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Year Citation  Score
2021 Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, et al. Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth Defects Research. PMID 34491000 DOI: 10.1002/bdr2.1950  1
2021 Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, ... ... Lyonnet S, et al. Autoantibodies neutralizing type I IFNs are present in 4% of uninfected individuals over 70 years old and account for 20% of COVID-19 deaths. Science Immunology. 6. PMID 34413139 DOI: 10.1126/sciimmunol.abl4340  1
2021 Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, ... Lyonnet S, et al. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. Plos Genetics. 17: e1009698. PMID 34358225 DOI: 10.1371/journal.pgen.1009698  1
2021 Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, ... ... Lyonnet S, et al. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. American Journal of Human Genetics. PMID 34010604 DOI: 10.1016/j.ajhg.2021.04.020  1
2021 Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, ... ... Lyonnet S, et al. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Journal of Medical Genetics. PMID 33820833 DOI: 10.1136/jmedgenet-2020-107595  1
2021 Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemaly N, Rotig A, ... Lyonnet S, et al. Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood. PMID 33763700 DOI: 10.1182/blood.2020009810  0.04
2021 Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, ... ... Lyonnet S, et al. Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans. The Journal of Clinical Investigation. PMID 33497358 DOI: 10.1172/JCI145837  1
2021 Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, ... ... Lyonnet S, et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics. PMID 33434492 DOI: 10.1016/j.ajhg.2020.12.014  1
2020 Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, ... ... Lyonnet S, et al. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. European Journal of Medical Genetics. 104033. PMID 32781272 DOI: 10.1016/J.Ejmg.2020.104033  1
2020 Kong XF, Worley L, Rinchai D, Bondet V, Jithesh PV, Goulet M, Nonnotte E, Rebillat AS, Conte M, Mircher C, Gürtler N, Liu L, Migaud M, Elanbari M, Habib T, ... ... Lyonnet S, et al. Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome. Journal of Clinical Immunology. PMID 32572726 DOI: 10.1007/S10875-020-00803-9  1
2020 Abadie V, Hamiaux P, Ragot S, Legendre M, Malecot G, Burtin A, Attie-Bitach T, Lyonnet S, Bilan F, Gilbert-Dussardier B, Vaivre-Douret L. Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients. Orphanet Journal of Rare Diseases. 15: 136. PMID 32493418 DOI: 10.1186/S13023-020-01421-9  1
2020 Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, ... ... Lyonnet S, et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics. PMID 32413283 DOI: 10.1016/J.Ajhg.2020.04.010  1
2020 Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, ... ... Lyonnet S, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32376980 DOI: 10.1038/S41436-020-0792-7  1
2020 Faviez C, Chen X, Garcelon N, Neuraz A, Knebelmann B, Salomon R, Lyonnet S, Saunier S, Burgun A. Diagnosis support systems for rare diseases: a scoping review. Orphanet Journal of Rare Diseases. 15: 94. PMID 32299466 DOI: 10.1186/S13023-020-01374-Z  1
2020 Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, ... ... Lyonnet S, et al. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Journal of Medical Genetics. PMID 32277047 DOI: 10.1136/Jmedgenet-2019-106425  1
2020 Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, ... ... Lyonnet S, et al. The Deep Genome Project. Genome Biology. 21: 18. PMID 32008577 DOI: 10.1186/S13059-020-1931-9  0.01
2020 Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, ... ... Lyonnet S, et al. Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization. Molecular Genetics & Genomic Medicine. e1114. PMID 31985172 DOI: 10.1002/Mgg3.1114  1
2020 Boussion S, Lyonnet S, Zwaag BVD, Vogel MJ, Smol T, Mezel A, Manouvrier-Hanu S, Vincent-Delorme C, Vanlerberghe C. Fraser syndrome without cryptophthalmos: Two cases European Journal of Medical Genetics. 63: 103839. PMID 31923588 DOI: 10.1016/J.Ejmg.2020.103839  1
2020 Aeschlimann FA, Stolzenberg MC, Rieux-Laucat F, Bustaffa M, Quartier P, Lyonnet S, Romana S, Bader-Meunier B. Comment on: Monogenic mimics of Behçet's disease in the young. Rheumatology (Oxford, England). 59: e109-e111. PMID 31725163 DOI: 10.1093/Rheumatology/Kez543  1
2019 Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, ... ... Lyonnet S, et al. Growth charts in Kabuki syndrome 1. American Journal of Medical Genetics. Part A. PMID 31876365 DOI: 10.1002/Ajmg.A.61462  1
2019 Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, ... ... Lyonnet S, et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain : a Journal of Neurology. PMID 31834374 DOI: 10.1093/Brain/Awz379  1
2019 Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. American Journal of Medical Genetics. Part A. PMID 31654484 DOI: 10.1002/Ajmg.A.61364  1
2019 Chen X, Garcelon N, Neuraz A, Billot K, Lelarge M, Bonald T, Garcia H, Martin Y, Benoit V, Vincent M, Faour H, Douillet M, Lyonnet S, Saunier S, Burgun A. Phenotypic similarity for rare disease: ciliopathy diagnoses and subtyping. Journal of Biomedical Informatics. 103308. PMID 31622800 DOI: 10.1016/J.Jbi.2019.103308  1
2019 Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, ... Lyonnet S, et al. PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. Human Molecular Genetics. PMID 31600779 DOI: 10.1093/Hmg/Ddz237  1
2019 Hubert L, Cannata Serio M, Villoing-Gaudé L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C. SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures. Journal of Medical Genetics. PMID 31439720 DOI: 10.1136/Jmedgenet-2018-105927  1
2019 Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, ... ... Lyonnet S, et al. Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Frontiers in Genetics. 10: 611. PMID 31417602 DOI: 10.3389/Fgene.2019.00611  0.01
2019 Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, ... ... Lyonnet S, et al. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31363182 DOI: 10.1038/S41436-019-0623-X  1
2019 Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, ... ... Lyonnet S, et al. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. Human Mutation. PMID 31231873 DOI: 10.1002/Humu.23847  1
2019 Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, ... ... Lyonnet S, et al. Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature. PMID 30944482 DOI: 10.1038/S41586-019-1109-3  1
2019 Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, ... ... Lyonnet S, et al. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nature Communications. 10: 1180. PMID 30862798 DOI: 10.1038/S41467-019-08547-W  1
2019 Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, ... ... Lyonnet S, et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics. PMID 30827496 DOI: 10.1016/J.Ajhg.2019.01.010  1
2019 Boisgontier J, Tacchella JM, Lemaître H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, Lyonnet S, Le Quang Sang KH, Baujat G, Rio M, Boute O, et al. Anatomical and functional abnormalities on MRI in kabuki syndrome. Neuroimage. Clinical. 21: 101610. PMID 30497982 DOI: 10.1016/J.Nicl.2018.11.020  1
2019 Novo A, Woestelandt L, Rousselot-Pailley B, Leitgel M, Eutrope J, Rio M, Lyonnet S, Robel L. Prise en charge pédopsychiatrique des patients présentant un syndrome microdélétionnel 22q11.2 : du soin à la prévention Encephale-Revue De Psychiatrie Clinique Biologique Et Therapeutique. 45: 175-181. PMID 30470499 DOI: 10.1016/J.Encep.2018.09.011  1
2018 Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, ... ... Lyonnet S, et al. Correction: Arterial tortuosity syndrome: 40 new families and literature review. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30201961 DOI: 10.1038/S41436-018-0035-3  1
2018 Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn AC, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj-Rabia S, Jacquemont ML, Lacombe D, ... Lyonnet S, et al. Dermatological manifestations in cardiofaciocutaneous syndrome: A prospective multicentric study of 45 mutation-positive patients. The British Journal of Dermatology. PMID 30141192 DOI: 10.1111/Bjd.17077  1
2018 Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, et al. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. European Journal of Human Genetics : Ejhg. PMID 30006632 DOI: 10.1038/S41431-018-0135-1  1
2018 Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, ... ... Lyonnet S, et al. Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature. PMID 29899452 DOI: 10.1038/S41586-018-0217-9  1
2018 Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, ... ... Lyonnet S, et al. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain : a Journal of Neurology. PMID 29878067 DOI: 10.1093/Brain/Awy145  1
2018 Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, et al. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. American Journal of Medical Genetics. Part A. 176: 1091-1098. PMID 29681083 DOI: 10.1002/Ajmg.A.38684  1
2018 Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, ... ... Lyonnet S, et al. Arterial tortuosity syndrome: 40 new families and literature review. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29323665 DOI: 10.1038/Gim.2017.253  1
2018 Gordon CT, Tessier A, Demir Z, Goldenberg A, Oufadem M, Voisin N, Pingault V, Bienvenu T, Lyonnet S, Pontual Ld, Amiel J. The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function. Clinical Genetics. 93: 356-359. PMID 28456137 DOI: 10.1111/Cge.13046  1
2018 Bellaing AMd, Guimier A, Bajolle F, Turner C, Grove M, Dunn K, Katta G, Crozier I, Kidd A, Mayr J, Rotig A, Rago JD, Delahodde A, Lyonnet S, Kennedy H, et al. PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy Archives of Cardiovascular Diseases Supplements. 10: 282. DOI: 10.1016/J.Acvdsp.2018.06.021  1
2017 Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, ... ... Lyonnet S, et al. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. European Journal of Human Genetics : Ejhg. PMID 29255276 DOI: 10.1038/S41431-017-0007-0  1
2017 Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, ... ... Lyonnet S, et al. Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. American Journal of Human Genetics. 101: 1006-1012. PMID 29198720 DOI: 10.1016/J.Ajhg.2017.10.010  1
2017 Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, ... ... Lyonnet S, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175: 417-430. PMID 29178447 DOI: 10.1002/Ajmg.C.31591  1
2017 Gordon CT, Chopra M, Oufadem M, Alibeu O, Bras M, Boddaert N, Bole-Feysot C, Nitschké P, Abadie V, Lyonnet S, Amiel J. MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. American Journal of Medical Genetics. Part A. PMID 29159987 DOI: 10.1002/Ajmg.A.38536  1
2017 Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, ... ... Lyonnet S, et al. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain : a Journal of Neurology. 140: 2597-2609. PMID 28969387 DOI: 10.1093/Brain/Awx218  1
2017 Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, ... ... Lyonnet S, et al. FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. American Journal of Human Genetics. PMID 28965846 DOI: 10.1016/J.Ajhg.2017.09.007  1
2017 Di Pasquo E, Amiel J, Roth P, Malan V, Lind K, Chalouhi C, Soupre V, Gordon CT, Lyonnet S, Salomon LJ, Abadie V. Efficiency of prenatal diagnosis in Pierre Robin sequence. Prenatal Diagnosis. PMID 28950416 DOI: 10.1002/Pd.5162  1
2017 Guey S, Grangeon L, Brunelle F, Bergametti F, Amiel J, Lyonnet S, Delaforge A, Arnould M, Desnous B, Bellesme C, Hervé D, Schwitalla JC, Kraemer M, Tournier-Lasserve E, Kossorotoff M. De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy. Journal of Medical Genetics. 54: 550-557. PMID 28343148 DOI: 10.1136/Jmedgenet-2016-104432  1
2017 Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, ... ... Lyonnet S, et al. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clinical Genetics. PMID 28295206 DOI: 10.1111/Cge.13010  1
2017 Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, ... ... Lyonnet S, et al. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics. PMID 28285769 DOI: 10.1016/J.Ajhg.2017.02.008  1
2017 Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, ... ... Lyonnet S, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biology. 18: 48. PMID 28274275 DOI: 10.1186/S13059-017-1174-6  1
2017 Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, ... ... Lyonnet S, et al. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics. PMID 28067911 DOI: 10.1038/Ng.3765  1
2016 Carré A, Stoupa A, Karyiawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, et al. Mutations in BOREALIN cause Thyroid Dysgenesis. Human Molecular Genetics. PMID 28025328 DOI: 10.1093/Hmg/Ddw419  1
2016 Sreenivasan R, Gordon CT, Benko S, de Iongh R, Bagheri-Fam S, Lyonnet S, Harley V. Altered SOX9 genital tubercle enhancer region in hypospadias. The Journal of Steroid Biochemistry and Molecular Biology. PMID 27989796 DOI: 10.1016/J.Jsbmb.2016.10.009  1
2016 Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, ... ... Lyonnet S, et al. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. Human Molecular Genetics. PMID 27702942 DOI: 10.1093/Hmg/Ddw333  1
2016 Guimier A, Gordon CT, Godard F, Ravenscroft G, Oufadem M, Vasnier C, Rambaud C, Nitschke P, Bole-Feysot C, Masson C, Dauger S, Longman C, Laing NG, Kugener B, Bonnet D, ... ... Lyonnet S, et al. Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. American Journal of Human Genetics. PMID 27523598 DOI: 10.1016/J.Ajhg.2016.06.021  1
2016 Girard M, Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, Jeanpierre C, Henry C, Fabre M, Viremouneix L, Galmiche L, Debray D, Bole-Feysot C, Nitschke P, Pariente D, ... ... Lyonnet S, et al. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis. Human Mutation. PMID 27319779 DOI: 10.1002/Humu.23031  1
2016 Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, ... ... Lyonnet S, et al. Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Human Mutation. PMID 27302555 DOI: 10.1002/Humu.23026  1
2016 Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, ... ... Lyonnet S, et al. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. American Journal of Human Genetics. PMID 27108797 DOI: 10.1016/J.Ajhg.2016.03.004  1
2016 Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, ... ... Lyonnet S, et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics. 98: 541-552. PMID 26942287 DOI: 10.1016/J.Ajhg.2016.02.004  1
2016 Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, ... ... Lyonnet S, et al. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. European Journal of Human Genetics : Ejhg. PMID 26757980 DOI: 10.1038/Ejhg.2015.273  1
2016 Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers H. Isolation and transcriptional profiling of embryonic human neural crest cells F1000research. 5. DOI: 10.7490/F1000Research.1111339.1  1
2016 Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, ... ... Lyonnet S, et al. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia European Journal of Human Genetics. DOI: 10.1038/ejhg.2015.273  1
2016 Cordier J, Fischer A, Guillevin L, Fiessinger J, Lyonnet S, Barois A, Bégué P, Bouvenot G, Brice A, Buffet C, Cartier-Lacave N, Delpech M, Éléfant É, Giudicelli C, Godeau P, et al. Maladies rares, le modèle français Bulletin De L Academie Nationale De Medecine. 200: 979-991. DOI: 10.1016/S0001-4079(19)30690-9  1
2015 Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, El Chehadeh S, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, et al. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey. Clinical Genetics. PMID 26582393 DOI: 10.1111/Cge.12696  1
2015 Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, ... ... Lyonnet S, et al. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nature Genetics. PMID 26437028 DOI: 10.1038/Ng.3376  1
2015 Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, et al. Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. European Journal of Human Genetics : Ejhg. PMID 26395554 DOI: 10.1038/Ejhg.2015.192  1
2015 Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, ... ... Lyonnet S, et al. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. The Journal of Clinical Investigation. 125: 3585-99. PMID 26280580 DOI: 10.1172/Jci80102  1
2015 Cherkaoui Jaouad I, Laarabi FZ, Chafai Elalaoui S, Lyonnet S, Henrion-Caude A, Sefiani A. Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. Molecular Syndromology. 6: 77-82. PMID 26279652 DOI: 10.1159/000430970  1
2015 Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, ... ... Lyonnet S, et al. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. American Journal of Human Genetics. 97: 311-8. PMID 26166481 DOI: 10.1016/J.Ajhg.2015.06.003  1
2015 Brioude F, Netchine I, Praz F, Jule ML, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, et al. Mutations of the imprinted CDKN1C gene as a cause of the overgrowth Beckwith Wiedemann syndrome: clinical spectrum and functional characterization. Human Mutation. PMID 26077438 DOI: 10.1002/Humu.22824  1
2015 Bhatia S, Gordon CT, Foster RG, Melin L, Abadie V, Baujat G, Vazquez MP, Amiel J, Lyonnet S, van Heyningen V, Kleinjan DA. Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish. Plos Genetics. 11: e1005193. PMID 26030420 DOI: 10.1371/Journal.Pgen.1005193  1
2015 Lind K, Aubry MC, Belarbi N, Chalouhi C, Couly G, Benachi A, Lyonnet S, Abadie V. Prenatal diagnosis of Pierre Robin Sequence: Accuracy and ability to predict phenotype and functional severity Prenatal Diagnosis. 35: 853-858. PMID 25982360 DOI: 10.1002/Pd.4619  1
2015 Arnaud M, Barat-Houari M, Gatinois V, Sanchez E, Lyonnet S, Touitou I, Geneviève D. [Kabuki syndrome: Update and review]. Archives De PéDiatrie : Organe Officiel De La SociéTe FrançAise De PéDiatrie. 22: 653-60. PMID 25934606 DOI: 10.1016/J.Arcped.2015.03.020  1
2015 Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, ... ... Lyonnet S, et al. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. American Journal of Medical Genetics. Part A. 167: 1587-92. PMID 25899569 DOI: 10.1002/Ajmg.A.36898  1
2015 Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects Clinical Genetics. 88: 405-415. PMID 25865758 DOI: 10.1111/Cge.12596  1
2015 Thevenon J, Michot C, Bole C, Nitschke P, Nizon M, Faivre L, Munnich A, Lyonnet S, Bonnefont JP, Portes VD, Amiel J. RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. American Journal of Medical Genetics. Part A. 167: 1908-12. PMID 25846674 DOI: 10.1002/Ajmg.A.37094  1
2015 Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, ... ... Lyonnet S, et al. Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. American Journal of Human Genetics. 96: 581-96. PMID 25839327 DOI: 10.1016/J.Ajhg.2015.02.014  1
2015 Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25790162 DOI: 10.1038/Gim.2015.29  1
2015 Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, ... ... Lyonnet S, et al. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics. 96: 519-31. PMID 25772936 DOI: 10.1016/J.Ajhg.2015.01.015  1
2015 El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, ... ... Lyonnet S, et al. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. European Journal of Human Genetics : Ejhg. 23: 1010-8. PMID 25351778 DOI: 10.1038/Ejhg.2014.230  1
2015 Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. European Journal of Human Genetics : Ejhg. 23: 621-7. PMID 25138100 DOI: 10.1038/Ejhg.2014.156  1
2015 Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, ... Lyonnet S, et al. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics : Ejhg. 23: 481-5. PMID 25026904 DOI: 10.1038/Ejhg.2014.132  1
2015 El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, ... ... Lyonnet S, et al. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 European Journal of Human Genetics. 23: 1010-1018. DOI: 10.1038/ejhg.2014.230  1
2015 Tavares VLR, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, ... Lyonnet S, et al. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect European Journal of Human Genetics. 23: 481-485. DOI: 10.1038/ejhg.2014.132  1
2015 Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, Chehadeh-Djebbar SE, Laurent N, Faivre L, Sztriha L, Zombor M, ... ... Lyonnet S, et al. Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318)) American Journal of Human Genetics. 97: 1923. DOI: 10.1016/J.Ajhg.2015.07.011  1
2014 Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, et al. Further delineation of the KAT6B molecular and phenotypic spectrum. European Journal of Human Genetics : Ejhg. PMID 25424711 DOI: 10.1038/ejhg.2014.248  1
2014 Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, ... ... Lyonnet S, et al. Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Human Mutation. 35: 1011-20. PMID 24934569 DOI: 10.1002/Humu.22606  1
2014 Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, et al. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome. Human Molecular Genetics. 23: 5763-73. PMID 24916376 DOI: 10.1093/Hmg/Ddu290  1
2014 Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet Journal of Rare Diseases. 9: 74. PMID 24884629 DOI: 10.1186/1750-1172-9-74  1
2014 Gordon CT, Cunniff CM, Green GE, Zechi-Ceide RM, Johnson JM, Henderson A, Petit F, Kokitsu-Nakata NM, Guion-Almeida ML, Munnich A, Cunningham ML, Lyonnet S, Amiel J. Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome. American Journal of Medical Genetics. Part A. 164: 1850-3. PMID 24677549 DOI: 10.1002/Ajmg.A.36505  1
2014 Lehalle D, Sanlaville D, Guimier A, Plouvier E, Leblanc T, Galmiche L, Radford I, Romana S, Colleaux L, de Pontual L, Lyonnet S, Amiel J. Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion. American Journal of Medical Genetics. Part A. 164: 1310-7. PMID 24665034 DOI: 10.1002/Ajmg.A.36452  1
2014 Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, ... ... Lyonnet S, et al. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Human Mutation. 35: 478-85. PMID 24470203 DOI: 10.1002/Humu.22517  1
2014 Gordon CT, Lyonnet S. Enhancer mutations and phenotype modularity. Nature Genetics. 46: 3-4. PMID 24370740 DOI: 10.1038/Ng.2861  1
2014 Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, ... ... Lyonnet S, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Human Molecular Genetics. 23: 2279-89. PMID 24319099 DOI: 10.1093/Hmg/Ddt618  1
2014 Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, ... ... Lyonnet S, et al. C5orf42 is the major gene responsible for OFD syndrome type VI. Human Genetics. 133: 367-77. PMID 24178751 DOI: 10.1007/S00439-013-1385-1  1
2014 Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, ... ... Lyonnet S, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Human Mutation. 35: 137-46. PMID 24166846 DOI: 10.1002/Humu.22470  1
2014 Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, ... ... Lyonnet S, et al. Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. Human Genetics. 133: 299-310. PMID 24142340 DOI: 10.1007/S00439-013-1380-6  1
2014 Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, ... ... Lyonnet S, et al. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. Journal of Medical Genetics. 51: 21-7. PMID 24133203 DOI: 10.1136/Jmedgenet-2013-101939  1
2014 Lyonnet S. G is for Genes: The Impact of Genetics on Education and Achievement, By Kathryn Asbury and Robert Plomin. John Wiley‐Blackwell; 1 edition (December 4, 2013), 216 pp, ISBN‐10: 1118482816. ISBN‐13: 978‐1118482810 Birth Defects Research Part a-Clinical and Molecular Teratology. 100: 991-991. DOI: 10.1002/Bdra.23334  0.01
2013 Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, et al. Pathways systematically associated to Hirschsprung's disease. Orphanet Journal of Rare Diseases. 8: 187. PMID 24289864 DOI: 10.1186/1750-1172-8-187  1
2013 Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, ... ... Lyonnet S, et al. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. American Journal of Human Genetics. 93: 1118-25. PMID 24268655 DOI: 10.1016/J.Ajhg.2013.10.023  1
2013 Clouthier DE, Passos-Bueno MR, Tavares AL, Lyonnet S, Amiel J, Gordon CT. Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 163: 306-17. PMID 24123988 DOI: 10.1002/Ajmg.C.31376  1
2013 Sanchez-Castro M, Gordon CT, Petit F, Nord AS, Callier P, Andrieux J, Guérin P, Pichon O, David A, Abadie V, Bonnet D, Visel A, Pennacchio LA, Amiel J, Lyonnet S, et al. Congenital heart defects in patients with deletions upstream of SOX9. Human Mutation. 34: 1628-31. PMID 24115316 DOI: 10.1002/Humu.22449  1
2013 Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, ... ... Lyonnet S, et al. Finger creases lend a hand in Kabuki syndrome. European Journal of Medical Genetics. 56: 556-60. PMID 23933090 DOI: 10.1016/J.Ejmg.2013.07.005  1
2013 Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. American Journal of Medical Genetics. Part A. 161: 2339-46. PMID 23913798 DOI: 10.1002/Ajmg.A.36066  1
2013 Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, ... ... Lyonnet S, et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics. 22: 5121-35. PMID 23906836 DOI: 10.1093/Hmg/Ddt366  1
2013 Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, et al. Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. Developmental Biology. 382: 320-9. PMID 23707863 DOI: 10.1016/J.Ydbio.2013.05.019  1
2013 Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, ... Lyonnet S, et al. Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. Plos One. 8: e62519. PMID 23671607 DOI: 10.1371/Journal.Pone.0062519  1
2013 Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, ... ... Lyonnet S, et al. Clinical and molecular spectrum of renal malformations in kabuki syndrome Journal of Pediatrics. 163: 742-746. PMID 23535010 DOI: 10.1016/J.Jpeds.2013.02.032  1
2013 Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, ... ... Lyonnet S, et al. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clinical Genetics. 84: 507-21. PMID 23506379 DOI: 10.1111/Cge.12094  1
2013 Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, et al. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Human Molecular Genetics. 22: 2652-61. PMID 23466526 DOI: 10.1093/Hmg/Ddt114  1
2013 Bandiera S, Cartault F, Jannot AS, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A. Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia. Plos One. 8: e54791. PMID 23382970 DOI: 10.1371/Journal.Pone.0054791  1
2013 Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, ... ... Lyonnet S, et al. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Journal of Medical Genetics. 50: 174-86. PMID 23315542 DOI: 10.1136/Jmedgenet-2012-101331  1
2013 Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, ... ... Lyonnet S, et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. American Journal of Human Genetics. 92: 265-70. PMID 23312594 DOI: 10.1016/J.Ajhg.2012.12.003  1
2013 Thouvenin B, Djadi-Prat J, Chalouhi C, Pierrot S, Lyonnet S, Couly G, Abadie V. Developmental outcome in Pierre Robin sequence: a longitudinal and prospective study of a consecutive series of severe phenotypes. American Journal of Medical Genetics. Part A. 161: 312-9. PMID 23303695 DOI: 10.1002/Ajmg.A.35773  1
2013 Santoro C, Malan V, Bertoli M, Boddaert N, Vidaud D, Lyonnet S. Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009. Clinical Dysmorphology. 22: 42-3. PMID 23207425 DOI: 10.1097/Mcd.0B013E32835B8Ea4  1
2013 Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, ... ... Lyonnet S, et al. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clinical Genetics. 84: 86-90. PMID 23036093 DOI: 10.1111/Cge.12013  1
2012 Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, ... ... Lyonnet S, et al. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Journal of Medical Genetics. 49: 737-46. PMID 23188108 DOI: 10.1136/Jmedgenet-2012-101173  1
2012 Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, ... ... Lyonnet S, et al. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Journal of Medical Genetics. 49: 698-707. PMID 23024289 DOI: 10.1136/Jmedgenet-2012-100926  1
2012 Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, ... ... Lyonnet S, et al. TCTN3 mutations cause Mohr-Majewski syndrome. American Journal of Human Genetics. 91: 372-8. PMID 22883145 DOI: 10.1016/J.Ajhg.2012.06.017  1
2012 Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, et al. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. American Journal of Human Genetics. 90: 907-14. PMID 22560091 DOI: 10.1016/J.Ajhg.2012.04.002  1
2012 Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, et al. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. American Journal of Human Genetics. 90: 740-5. PMID 22464250 DOI: 10.1016/J.Ajhg.2012.03.003  1
2012 Cartault F, Munier P, Benko E, Desguerre I, Hanein S, Boddaert N, Bandiera S, Vellayoudom J, Krejbich-Trotot P, Bintner M, Hoarau JJ, Girard M, Génin E, de Lonlay P, Fourmaintraux A, ... ... Lyonnet S, et al. Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy. Proceedings of the National Academy of Sciences of the United States of America. 109: 4980-5. PMID 22411793 DOI: 10.1073/Pnas.1111596109  1
2012 Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, ... Lyonnet S, et al. Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. European Journal of Human Genetics : Ejhg. 20: 917-20. PMID 22395866 DOI: 10.1038/Ejhg.2012.35  1
2012 Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC. ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. Plos One. 7: e30677. PMID 22303449 DOI: 10.1371/Journal.Pone.0030677  1
2012 Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, et al. CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology. 142: 453-462.e3. PMID 22155368 DOI: 10.1053/J.Gastro.2011.11.038  1
2012 Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, et al. Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Brain : a Journal of Neurology. 135: e199; author reply e. PMID 21609947 DOI: 10.1093/Brain/Awr108  1
2012 Vergult S, Krgovic D, Loeys B, Lyonnet S, Liedén A, Anderlid B, Sharkey F, Joss S, Mortier G, Menten B. Nasal speech in patients with 12q15 microdeletions European Journal of Human Genetics. 20: 367-367. DOI: 10.1038/Ejhg.2011.230  1
2012 Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, et al. Erratum: A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome ((The American Journal of Human Genetics (2012) 90 (907-914)) American Journal of Human Genetics. 90. DOI: 10.1016/J.Ajhg.2012.05.013  1
2011 Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, ... ... Lyonnet S, et al. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. Journal of Medical Genetics. 48: 825-30. PMID 22051515 DOI: 10.1136/Jmedgenet-2011-100255  1
2011 De Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, Brugière L, Delattre O, Vekemans M, ... ... Lyonnet S, et al. Germline gain-of-function mutations of ALK disrupt central nervous system development Human Mutation. 32: 272-276. PMID 21972109 DOI: 10.1002/Humu.21442  1
2011 Bandiera S, Hanein S, Lyonnet S, Henrion-Caude A. Mitochondria as novel players of the cellular RNA interference. Journal of Biological Chemistry. 286. PMID 21926178 DOI: 10.1074/Jbc.L111.240259  1
2011 de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, et al. Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nature Genetics. 43: 1026-30. PMID 21892160 DOI: 10.1038/Ng.915  1
2011 Benko S, Gordon CT, Amiel J, Lyonnet S. [Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence]. Biologie Aujourd'Hui. 205: 111-24. PMID 21831342 DOI: 10.1051/Jbio/2011010  1
2011 Girard M, Jannot AS, Besnard M, Leutenegger AL, Jacquemin E, Lyonnet S, Henrion-Caude A. Polynesian ecology determines seasonality of biliary atresia. Hepatology (Baltimore, Md.). 54: 1893-4. PMID 21748760 DOI: 10.1002/hep.24534  1
2011 Bandiera S, Rüberg S, Girard M, Cagnard N, Hanein S, Chrétien D, Munnich A, Lyonnet S, Henrion-Caude A. Nuclear outsourcing of RNA interference components to human mitochondria. Plos One. 6: e20746. PMID 21695135 DOI: 10.1371/Journal.Pone.0020746  1
2011 Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, ... ... Lyonnet S, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Human Mutation. 32: 1118-27. PMID 21618648 DOI: 10.1002/Humu.21542  1
2011 Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, ... ... Lyonnet S, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics. 43: 601-6. PMID 21552264 DOI: 10.1038/Ng.826  1
2011 Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S, Glorion C, Lyonnet S, Zerah M, Kemlin I, Rodriguez D, Bastuji-Garin S, Wolkenstein P. Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet Journal of Rare Diseases. 6: 18. PMID 21542925 DOI: 10.1186/1750-1172-6-18  1
2011 Vergult S, Krgovic D, Loeys B, Lyonnet S, Liedén A, Anderlid BM, Sharkey F, Joss S, Mortier G, Menten B. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. European Journal of Human Genetics : Ejhg. 19: 1032-7. PMID 21505450 DOI: 10.1038/Ejhg.2011.67  1
2011 Geneviève D, de Pontual L, Amiel J, Lyonnet S. Genetic factors in isolated and syndromic esophageal atresia. Journal of Pediatric Gastroenterology and Nutrition. 52: S6-8. PMID 21499049 DOI: 10.1097/Mpg.0B013E318213316A  1
2011 Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, ... ... Lyonnet S, et al. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Journal of Medical Genetics. 48: 417-21. PMID 21415077 DOI: 10.1136/Jmg.2010.087544  1
2011 Salomon J, Espinosa-Parrilla Y, Goulet O, Al-Qabandi W, Guigue P, Canioni D, Bruneau J, Alzahrani F, Almuhsen S, Cerf-Bensussan N, Jeanpierre M, Brousse N, Lyonnet S, Munnich A, Smahi A. A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. European Journal of Medical Genetics. 54: 319-22. PMID 21315192 DOI: 10.1016/J.Ejmg.2011.01.009  1
2011 Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, ... ... Lyonnet S, et al. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. European Journal of Human Genetics : Ejhg. 19: 602-6. PMID 21224895 DOI: 10.1038/Ejhg.2010.225  1
2011 Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation. 32: 70-2. PMID 20979233 DOI: 10.1002/Humu.21384  1
2010 Amiel J, Benko S, Gordon CT, Lyonnet S. Disruption of long-distance highly conserved noncoding elements in neurocristopathies. Annals of the New York Academy of Sciences. 1214: 34-46. PMID 21175683 DOI: 10.1111/J.1749-6632.2010.05878.X  1
2010 Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, ... ... Lyonnet S, et al. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Human Mutation. 31: 1134-41. PMID 20690116 DOI: 10.1002/Humu.21329  1
2010 Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W. Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient. American Journal of Medical Genetics Part A. 152: 2143-2143. PMID 20635357 DOI: 10.1002/Ajmg.A.33512  1
2010 Pontual Ld, Lyonnet S, Amiel J, » RI«Aen. Anomalies de développement et prédisposition aux tumeurs de l’enfant Archives De Pediatrie. 17: 1220-1227. PMID 20598868 DOI: 10.1016/J.Arcped.2010.05.017  1
2010 Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, ... ... Lyonnet S, et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. American Journal of Human Genetics. 87: 60-74. PMID 20598273 DOI: 10.1016/J.Ajhg.2010.06.007  1
2010 Reiber JJ, Sznajer Y, Posteguillo EGEG, Müller D, Lyonnet S, Baumann C, Just WW. Additional Clinical and Molecular Analyses of TFAP2A in Patients With the Branchio-Oculo-Facial Syndrome American Journal of Medical Genetics Part A. 152: 994-999. PMID 20358615 DOI: 10.1002/Ajmg.A.33331  1
2010 Edouard T, Combier J, Nédélec A, Bel-Vialar S, Métrich M, Conte-Auriol F, Lyonnet S, Parfait B, Tauber M, Salles J, Lezoualc'h F, Yart A, Raynal P. Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling Molecular and Cellular Biology. 30: 2498-2507. PMID 20308328 DOI: 10.1128/Mcb.00646-09  1
2010 Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, et al. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency. American Journal of Medical Genetics. Part A. 152: 622-9. PMID 20186794 DOI: 10.1002/Ajmg.A.33291  1
2010 Bandiera S, Hatem E, Lyonnet S, Henrion-Caude A. microRNAs in diseases: from candidate to modifier genes Clinical Genetics. 77: 306-313. PMID 20132241 DOI: 10.1111/J.1399-0004.2010.01370.X  1
2010 Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, ... ... Lyonnet S, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Human Mutation. 31: 113-26. PMID 19894250 DOI: 10.1002/Humu.21154  1
2010 Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Merrer ML, Lyonnet S, Martin-Coignard D, Mathieu M, et al. Molecular analysis of pericentrin gene ( PCNT ) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families Journal of Medical Genetics. 47: 797-802. PMID 19643772 DOI: 10.1136/Jmg.2009.067298  1
2010 Parisot P, Bajolle F, Attié-Bittach T, Thomas S, Goudefroye G, Abadie V, Lyonnet S, Bonnet D. 321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations Archives of Cardiovascular Diseases Supplements. 2: 104-105. DOI: 10.1016/S1878-6480(10)70323-2  1
2010 Attias D, Stheneur C, Roy C, Faivre L, Collod-Beroud G, Detaint D, Delrue MA, Plauchu H, Claustres M, Lyonnet S, Vahanian A, Boileau C, Jondeau G. 314 - Outcomes and prognosis in patient with TGFBR2 or FBN1 gene mutation Archives of Cardiovascular Diseases Supplements. 2: 102-103. DOI: 10.1016/S1878-6480(10)70316-5  1
2010 Pontual LD, Brugieres L, Valteau-Couanet D, Frebourg T, Michon J, Doz F, Delattre O, Janoueix-Lerosey I, Lyonnet S, Amiel J. CL088 - Prédisposition génétique au neuroblastome Archives De Pediatrie. 17: 23-24. DOI: 10.1016/S0929-693X(10)70301-8  1
2010 Cretolle C, Zerah M, Lyonnet S, Fekete C. CL033 - Syndrome de Currarino : Analyse clinique et génétique de 80 cas Archives De Pediatrie. 17: 10. DOI: 10.1016/S0929-693X(10)70249-9  0.08
2010 Arnaud A, Crétolle C, Babarit C, Galmiche L, Munnich A, Lyonnet S, Vekemans M, Etchevers H, Sarnacki S. CL004 - Expression de marqueurs de pluripotence dans des cellules de tératome sacro-coccygien Archives De Pediatrie. 17: 2. DOI: 10.1016/S0929-693X(10)70220-7  1
2010 Nédélec A, Edouard T, Combier JP, Bel-Vialar S, Métrich M, Conte-Auriol F, Lyonnet S, Parfait B, Tauber M, Salles JP, Lezoualc’h F, Yart A, Raynal P. R39: Impact des mutations de PTPN11 (SHP2) responsables du syndrome LEOPARD sur la signalisation PI3K/Akt/GSK-3beta induite par l’epidermal growth factor (EGF) : implication dans la tumorogenèse ? Bulletin Du Cancer. 97. DOI: 10.1016/S0007-4551(15)30956-5  1
2009 Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. The C20orf133 gene is disrupted in a patient with Kabuki syndrome. Bmj Case Reports. 2009. PMID 21720541 DOI: 10.1136/Bcr.06.2009.1994  1
2009 Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, Delrue M, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Kien PKV, Lacombe D, Merrer ML, ... Lyonnet S, et al. Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders Circulation. 120: 2541-2549. PMID 19996017 DOI: 10.1161/Circulationaha.109.887042  1
2009 Puig I, Champeval D, De Santa Barbara P, Jaubert F, Lyonnet S, Larue L. Deletion of Pten in the mouse enteric nervous system induces ganglioneuromatosis and mimics intestinal pseudoobstruction. The Journal of Clinical Investigation. 119: 3586-96. PMID 19884655 DOI: 10.1172/Jci39929  1
2009 Bourdeaut F, Janoueix-Lerosey I, Lucchesi C, Paris R, Ribeiro A, Pontual Ld, Amiel J, Lyonnet S, Pierron G, Michon J, Peuchmaur M, Delattre O. Cholinergic switch associated with morphological differentiation in neuroblastoma The Journal of Pathology. 219: 463-472. PMID 19768740 DOI: 10.1002/Path.2614  1
2009 de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proceedings of the National Academy of Sciences of the United States of America. 106: 13921-6. PMID 19666486 DOI: 10.1073/Pnas.0901219106  1
2009 Gordon CT, Tan TY, Benko S, Fitzpatrick D, Lyonnet S, Farlie PG. Long-range regulation at the SOX9 locus in development and disease. Journal of Medical Genetics. 46: 649-56. PMID 19473998 DOI: 10.1136/Jmg.2009.068361  1
2009 Clément-Ziza M, Gentien D, Lyonnet S, Thiery JP, Besmond C, Decraene C. Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling. Bmc Genomics. 10: 246. PMID 19470167 DOI: 10.1186/1471-2164-10-246  1
2009 Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, Baracé Cd, Vouhe P, Pouard P, Vuillaumier-Barrot S, Dupré T, Keyzer Yd, Sidi D, Seta N, Bonnet D, Lonlay Pd. Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia) Journal of Medical Genetics. 46: 287-288. PMID 19357119 DOI: 10.1136/Jmg.2008.057620  1
2009 Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A. Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Human Mutation. 30: 771-5. PMID 19306335 DOI: 10.1002/Humu.20944  1
2009 De Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, ... ... Lyonnet S, et al. Mutational, functional, and expression studies of the TCF4 gene in pitt-hopkins syndrome Human Mutation. 30: 669-676. PMID 19235238 DOI: 10.1002/Humu.20935  1
2009 Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, ... ... Lyonnet S, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics. 41: 359-64. PMID 19234473 DOI: 10.1038/Ng.329  1
2009 Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-daire V, Colleaux L. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation Journal of Medical Genetics. 46: 635-640. PMID 19126570 DOI: 10.1136/Jmg.2008.062034  1
2009 Trochet D, Mathieu Y, Pontual Ld, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, Amiel J. In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. Human Mutation. 30: E421-31. PMID 19058226 DOI: 10.1002/Humu.20923  1
2009 Bertoli M, Boddaert N, Raoul O, Amiel J, Lyonnet S. Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay. Clinical Dysmorphology. 18: 110-111. PMID 19057380 DOI: 10.1097/Mcd.0B013E32831Db26F  1
2009 Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. European Journal of Human Genetics : Ejhg. 17: 454-66. PMID 19002211 DOI: 10.1038/Ejhg.2008.214  1
2009 Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. European Journal of Human Genetics : Ejhg. 17: 434-43. PMID 18854860 DOI: 10.1038/Ejhg.2008.192  1
2009 Golzio C, Havis E, Nuel G, Babarit C, Munnich A, Vekemans M, Lyonnet S, Etchevers H. Program/Abstract # 500 Developmental Biology. 331: 528. DOI: 10.1016/J.Ydbio.2009.05.528  1
2008 Clément-Ziza M, Munnich A, Lyonnet S, Jaubert F, Besmond C. Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions Rna. 14: 2698-2704. PMID 18945804 DOI: 10.1261/Rna.1261708  1
2008 Janoueix-Lerosey I, Lequin D, Brugières L, Ribeiro A, Pontual Ld, Combaret V, Raynal V, Puisieux A, Schleiermacher G, Pierron G, Valteau-Couanet D, Frebourg T, Michon J, Lyonnet S, Amiel J, et al. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma Nature. 455: 967-970. PMID 18923523 DOI: 10.1038/Nature07398  1
2008 Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Parc JL, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, ... Lyonnet S, et al. Identification of 23 TGFBR2 and 6 TGFBR1 Gene Mutations and Genotype-phenotype Investigations in 457 Patients with Marfan Syndrome Type I and II, Loeys-Dietz Syndrome and Related Disorders Human Mutation. 29. PMID 18781618 DOI: 10.1002/Humu.20871  1
2008 Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers HC. Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Human Molecular Genetics. 17: 3411-25. PMID 18689800 DOI: 10.1093/Hmg/Ddn235  1
2008 De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, ... ... Lyonnet S, et al. Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatric Research. 64: 689-94. PMID 18670370 DOI: 10.1203/Pdr.0B013E318187Dd0E  1
2008 de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. The Journal of Experimental Medicine. 205: 1543-50. PMID 18591412 DOI: 10.1084/Jem.20080321  1
2008 Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S. Spectrum of HLXB9 Gene Mutations in Currarino Syndrome and Genotype-Phenotype Correlation Human Mutation. 29: 903-910. PMID 18449898 DOI: 10.1002/Humu.20718  1
2008 Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). Human Mutation. 29: 770. PMID 18407552 DOI: 10.1002/Humu.20727  1
2008 Girard M, Jacquemin E, Munnich A, Lyonnet S, Henrion-Caude A. miR-122, a paradigm for the role of microRNAs in the liver. Journal of Hepatology. 48: 648-56. PMID 18291553 DOI: 10.1016/J.Jhep.2008.01.019  1
2008 Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. American Journal of Respiratory and Critical Care Medicine. 177: 906-11. PMID 18079495 DOI: 10.1164/Rccm.200707-1079Oc  1
2008 Schluth C, Gesny R, Borck G, Redon R, Abadie V, Kleinfinger P, Munnich A, Lyonnet S, Colleaux L. New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. American Journal of Medical Genetics. Part A. 146: 93-6. PMID 18076123 DOI: 10.1002/Ajmg.A.31869  1
2008 Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, De Pontual L, Clement-Ziza M, Munnich A, ... ... Lyonnet S, et al. Hirschsprung disease, associated syndromes and genetics: A review Journal of Medical Genetics. 45: 1-14. PMID 17965226 DOI: 10.1136/Jmg.2007.053959  1
2008 Viot-Szoboszlai G, Amiel J, Doz F, Prieur M, Couturier J, Zucker J, Henry I, Munnich A, Vekemans M, Lyonnet S. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clinical Genetics. 53: 278-280. PMID 9650765 DOI: 10.1111/J.1399-0004.1998.Tb02696.X  1
2008 Tellier AL, Lyonnet S, Cormier-Daire V, Lonlay Pd, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Merrer ML, Nivelon A, Philip N, Briard ML, Munnich A. Increased paternal age in CHARGE association. Clinical Genetics. 50: 548-550. PMID 9147897 DOI: 10.1111/J.1399-0004.1996.Tb02736.X  1
2008 Gatterre P, Girard M, Lacaille F, Sauvat F, Vanderbecken S, Brugieres L, Lyonnet S, Verkarre V, Galmiche-Rolland L, Freneaux P, Fabre M, Aerts I. SFCE-P35 – Cancérologie – A propos de trois cas familiaux de tumeurs hépatiques malignes Archives De Pediatrie. 15: 1017. DOI: 10.1016/S0929-693X(08)72377-7  1
2008 Pontual LD, Galego J, Plouin P, Soufflet C, Motte J, Durandy A, Lyonnet S, Amiel J. SFP-P214 – Génétique – Identification des bases moléculaires du syndrome de Pitt-Hopkins, une encéphalopathie convulsivante associé à une anomalie du contrôle central de la ventilation Archives De Pediatrie. 15: 1006. DOI: 10.1016/S0929-693X(08)72342-X  1
2007 Gruchy N, Jacquemont M, Lyonnet S, Labrune P, Kamel IE, Siffroi J, Portnoï M. Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter American Journal of Medical Genetics Part A. 143: 2417-2422. PMID 17853488 DOI: 10.1002/Ajmg.A.31931  1
2007 de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. European Journal of Cancer (Oxford, England : 1990). 43: 2366-72. PMID 17765533 DOI: 10.1016/J.Ejca.2007.07.016  1
2007 Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach A, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability Clinical Genetics. 72: 112-121. PMID 17661815 DOI: 10.1111/J.1399-0004.2007.00821.X  1
2007 Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. The C20orf133 gene is disrupted in a patient with Kabuki syndrome. Journal of Medical Genetics. 44: 562-9. PMID 17586838 DOI: 10.1136/Jmg.2007.049510  1
2007 Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, ... ... Lyonnet S, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. American Journal of Human Genetics. 81: 170-9. PMID 17564974 DOI: 10.1086/519494  1
2007 Trochet D, de Pontual L, Keren B, Munnich A, Vekemans M, Lyonnet S, Amiel J. Polyalanine expansions might not result from unequal crossing-over. Human Mutation. 28: 1043-4. PMID 17559084 DOI: 10.1002/Humu.20562  1
2007 Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. American Journal of Human Genetics. 80: 1179-87. PMID 17503335 DOI: 10.1086/518177  1
2007 Coudé FX, Mignot C, Lyonnet S, Munnich A. Early grade repetition and inattention associated with neurofibromatosis type 1. Journal of Attention Disorders. 11: 101-105. PMID 17494836 DOI: 10.1177/1087054707299398  1
2007 Geneviève D, Pontual LD, Amiel J, Sarnacki S, Lyonnet S. An overview of isolated and syndromic oesophageal atresia. Clinical Genetics. 71: 392-399. PMID 17489843 DOI: 10.1111/J.1399-0004.2007.00798.X  1
2007 Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, et al. Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. Journal of Medical Genetics. 44: 537-40. PMID 17468296 DOI: 10.1136/Jmg.2006.048736  1
2007 Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. American Journal of Human Genetics. 80: 988-93. PMID 17436254 DOI: 10.1086/515582  1
2007 Etchevers HC, Amiel J, Lyonnet S. [Genetic and molecular bases of neurocristopathies]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie. 14: 668-72. PMID 17434298 DOI: 10.1016/J.Arcped.2007.02.072  1
2007 Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, ... ... Lyonnet S, et al. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Human Mutation. 28: 523-4. PMID 17397051 DOI: 10.1002/Humu.9489  1
2007 de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, ... Lyonnet S, et al. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. Human Mutation. 28: 790-6. PMID 17397038 DOI: 10.1002/Humu.20517  1
2007 Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nature Genetics. 39: 454-6. PMID 17353897 DOI: 10.1038/Ng1993  1
2007 Crétolle C, Sarnacki S, Amiel J, Geneviève D, Encha-Razavi F, Zrelli S, Zérah M, Nihoul Fékété C, Lyonnet S. Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism. American Journal of Medical Genetics. Part A. 143: 871-4. PMID 17352395 DOI: 10.1002/Ajmg.A.31655  1
2007 Khen-Dunlop N, Lortat-Jacob S, Thibaud E, Clément-Ziza M, Lyonnet S, Nihoul-Fekete C. Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls. The Journal of Urology. 177: 1107-1111. PMID 17296423 DOI: 10.1016/J.Juro.2006.11.003  1
2007 Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. American Journal of Human Genetics. 80: 186-94. PMID 17160906 DOI: 10.1086/510499  1
2007 Basel-Vanagaite L, Pelet A, Steiner Z, Munnich A, Rozenbach Y, Shohat M, Lyonnet S. Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease. European Journal of Human Genetics. 15: 242-245. PMID 17091122 DOI: 10.1038/Sj.Ejhg.5201733  1
2007 Lyonnet S. En route towards genetic medicine in practice: a clinical genetics guide in the post genomic era European Journal of Human Genetics. 15: 907-907. DOI: 10.1038/Sj.Ejhg.5201864  0.01
2006 Etchevers HC, Amiel J, Lyonnet S. Molecular bases of human neurocristopathies. Advances in Experimental Medicine and Biology. 589: 213-34. PMID 17076285 DOI: 10.1007/978-0-387-46954-6_14  1
2006 Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics. 43: 843-9. PMID 16840569 DOI: 10.1136/Jmg.2006.043166  1
2006 Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, Blois MCD, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. American Journal of Human Genetics. 78: 1066-1074. PMID 16685657 DOI: 10.1086/504301  1
2006 Romano S, Boddaert N, Desguerre I, Hubert L, Salomon R, Seidenwurm D, Bahi-Buisson N, Nabbout R, Sonigo P, Lyonnet S, Brunelle F, Munnich A, Lonlay Pd. Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. Neuropediatrics. 37: 42-45. PMID 16541367 DOI: 10.1055/S-2006-923838  1
2006 Coudé FX, Mignot C, Lyonnet S, Munnich A. Academic Impairment is the Most Frequent Complication of Neurofibromatosis Type-1 (NF1) in Children Behavior Genetics. 36: 660-664. PMID 16474913 DOI: 10.1007/S10519-005-9040-9  1
2006 de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, Amiel J. Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. Journal of Medical Genetics. 43: 419-23. PMID 16443855 DOI: 10.1136/Jmg.2005.040113  1
2006 Coudé FX, Mignot C, Lyonnet S, Munnich A. Discontinuity in the fall of left-handedness in a French population: a May '68 effect? Laterality. 11: 33-35. PMID 16414913 DOI: 10.1080/13576500500219262  1
2006 Crétolle C, Zérah M, Jaubert F, Sarnacki S, Révillon Y, Lyonnet S, Nihoul-Fékété C. New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). Journal of Pediatric Surgery. 41: 126-131. PMID 16410121 DOI: 10.1016/J.Jpedsurg.2005.10.053  1
2006 Hermeziu B, Sanlaville D, Girard M, Léonard C, Lyonnet S, Jacquemin E. Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. Journal of Pediatric Gastroenterology and Nutrition. 42: 114-6. PMID 16385265 DOI: 10.1097/01.Mpg.0000184429.34001.68  1
2006 Boddaert N, Mochel F, Meresse I, Seidenwurm D, Cachia A, Brunelle F, Lyonnet S, Zilbovicius M. Parieto-occipital grey matter abnormalities in children with Williams syndrome. Neuroimage. 30: 721-5. PMID 16380272 DOI: 10.1016/J.Neuroimage.2005.10.051  1
2006 Limal J, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Bouc YL. Noonan syndrome: relationships between genotype, growth, and growth factors. The Journal of Clinical Endocrinology and Metabolism. 91: 300-306. PMID 16263833 DOI: 10.1210/Jc.2005-0983  1
2006 Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, ... ... Lyonnet S, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Journal of Medical Genetics. 43: 211-217. PMID 16169932 DOI: 10.1136/Jmg.2005.036160  1
2006 Sanlaville D, Delnatte C, Mougenot JF, Vermeesch JR, Houdayer C, Blois MCD, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Reply to Salviati et al. American Journal of Human Genetics. 79: 596-597. DOI: 10.1086/507152  1
2005 Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Human Molecular Genetics. 14: 3697-708. PMID 16249188 DOI: 10.1093/Hmg/Ddi401  1
2005 Geneviève D, Walter E, Gorry P, Jacquemont ML, Dupic L, Layet V, Munnich A, Cormier-Daire V, Dommergues M, Lyonnet S, Mitanchez D. Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenatal Diagnosis. 25: 997-9. PMID 16231297 DOI: 10.1002/Pd.1231  1
2005 Clément-Ziza M, Brody Y, Munnich A, Lyonnet S, Besmond C. GeneRetriever: Software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays Biotechniques. 39: 180-184. PMID 16116789 DOI: 10.2144/05392Bm04  1
2005 Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia S, Petit C, Couderc R, Garabédian EN, Marlin S. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. American Journal of Medical Genetics. Part A. 137: 225-7. PMID 16059934 DOI: 10.1002/Ajmg.A.30765  1
2005 Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V. Clinical and molecular overlap in overgrowth syndromes. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 137: 4-11. PMID 16010674 DOI: 10.1002/Ajmg.C.30060  1
2005 Clément-Ziza M, Khen N, Gonzales J, Crétolle-Vastel C, Picard JY, Tullio-Pelet A, Besmond C, Munnich A, Lyonnet S, Nihoul-Fékété C. Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly. American Journal of Medical Genetics. Part A. 137: 98-9. PMID 16007613 DOI: 10.1002/Ajmg.A.30833  1
2005 Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) Journal of Medical Genetics. 42: 551-557. PMID 15994876 DOI: 10.1136/Jmg.2005.030759  1
2005 Bourdeaut F, Trochet D, Janoueix-Lerosey I, Ribeiro A, Deville A, Coz C, Michiels J, Lyonnet S, Amiel J, Delattre O. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Cancer Letters. 228: 51-58. PMID 15949893 DOI: 10.1016/J.Canlet.2005.01.055  1
2005 Nolen MC, Lyonnet S. Table ronde : grand-parentalitéGrands-parents et pratiques de génétiqueGrandparents and genetics Archives De Pediatrie. 12. PMID 15904840 DOI: 10.1016/J.Arcped.2005.03.012  1
2005 Castanet M, Leenhardt L, Léger J, Simon-Carré A, Lyonnet S, Pelet A, Czernichow P, Polak M. Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatric Research. 57: 908-913. PMID 15845640 DOI: 10.1203/01.Pdr.0000161409.04177.36  1
2005 Nardo GD, Tullio-Pelet A, Annese V, Stanghellini V, Barbara G, Latiano A, Andriulli A, Cremon C, Salvioli B, Volta U, Corinaldesi R, Lyonnet S, Giorgio RD. Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus Digestive and Liver Disease. 37: 312-315. PMID 15843079 DOI: 10.1016/J.Dld.2004.11.006  1
2005 Girard M, Amiel J, Fabre M, Pariente D, Lyonnet S, Jacquemin E. Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism? American Journal of Medical Genetics. Part A. 135: 186-9. PMID 15832360 DOI: 10.1002/Ajmg.A.30724  1
2005 Dridi SM, Bertaud AF, Tchen SI, Senni K, Ejeil AL, Pellat B, Lyonnet S, Bonnet D, Charpiot P, Godeau G. Vascular wall remodeling in patients with supravalvular aortic stenosis and williams beuren syndrome Journal of Vascular Research. 42: 190-201. PMID 15832055 DOI: 10.1159/000085141  1
2005 Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, ... ... Lyonnet S, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. European Journal of Human Genetics : Ejhg. 13: 690-3. PMID 15770228 DOI: 10.1038/Sj.Ejhg.5201383  1
2005 Pelet A, de Pontual L, Clément-Ziza M, Salomon R, Mugnier C, Matsuda F, Lathrop M, Munnich A, Feingold J, Lyonnet S, Abel L, Amiel J. Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease. Journal of Medical Genetics. 42: e18. PMID 15744028 DOI: 10.1136/Jmg.2004.028746  1
2005 Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. American Journal of Human Genetics. 76: 421-6. PMID 15657873 DOI: 10.1086/428366  1
2005 Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z. A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. Brain : a Journal of Neurology. 128: 42-51. PMID 15548556 DOI: 10.1093/Brain/Awh338  1
2005 Castanet M, Sura-Trueba S, Chauty A, Carré A, Roux Nd, Heath S, Léger J, Lyonnet S, Czernichow P, Polak M. Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes. European Journal of Human Genetics. 13: 232-239. PMID 15547625 DOI: 10.1038/Sj.Ejhg.5201321  1
2005 Boddaert N, Mochel F, Lyonnet S, Meresse I, Brunelle F, Zilbovicius M. Anomalies du sillon parieto-occipital dans le syndrome de Williams Journal De Radiologie. 86: 1411. DOI: 10.1016/S0221-0363(05)75725-5  1
2004 Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. Journal of Medical Genetics. 41: e128. PMID 15591270 DOI: 10.1136/Jmg.2004.026666  1
2004 Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology. 127: 1386-90. PMID 15521008 DOI: 10.1053/J.Gastro.2004.07.022  1
2004 Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S. Polyalanine expansions in human Human Molecular Genetics. 13. PMID 15358730 DOI: 10.1093/Hmg/Ddh251  1
2004 Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J. PHOX2B gene mutation in a patient with late-onset central hypoventilation. Pediatric Pulmonology. 38: 349-51. PMID 15334515 DOI: 10.1002/Ppul.20074  1
2004 Geneviève D, Amiel J, Viot G, Merrer ML, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. American Journal of Medical Genetics Part A. 129: 64-68. PMID 15266618 DOI: 10.1002/Ajmg.A.30144  1
2004 Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, et al. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. Clinical Genetics. 66: 122-7. PMID 15253762 DOI: 10.1111/J.1399-0004.2004.00288.X  1
2004 Genin E, Tullio-Pelet A, Begeot F, Lyonnet S, Abel L. Estimating the age of rare disease mutations: the example of Triple-A syndrome Journal of Medical Genetics. 41: 445-449. PMID 15173230 DOI: 10.1136/Jmg.2003.017962  1
2004 Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, et al. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. Journal of Medical Genetics. 41: 381-6. PMID 15121778 DOI: 10.1136/Jmg.2003.014829  1
2004 Espinosa-Parrilla Y, Encha-Razavi F, Attié-Bitach T, Martinovic J, Morichon-Delvallez N, Munnich A, Vekemans M, Lyonnet S, Amiel J. Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum. Prenatal Diagnosis. 24: 298-301. PMID 15065106 DOI: 10.1002/Pd.865  1
2004 Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, Pontual Ld, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. American Journal of Human Genetics. 74: 761-764. PMID 15024693 DOI: 10.1086/383253  1
2004 Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. American Journal of Human Genetics. 74: 715-20. PMID 14997421 DOI: 10.1086/383093  1
2004 Gaultier C, Amiel J, Dauger S, Trang H, Lyonnet S, Gallego J, Simonneau M. Genetics and early disturbances of breathing control. Pediatric Research. 55: 729-33. PMID 14739359 DOI: 10.1203/01.Pdr.0000115677.78759.C5  1
2004 Ruemmele FM, Vannerom P, Canioni D, Olschwang S, Martelli H, Brousse N, Jan D, Goulet O, Lyonnet S, Mougenot J. P0842 Early Onset Pten Hamartomatous Syndrome Journal of Pediatric Gastroenterology and Nutrition. 39. DOI: 10.1097/00005176-200406001-00966  1
2003 Sztriha L, Espinosa-Parrilla Y, Gururaj A, Amiel J, Lyonnet S, Gerami S, Johansen JG. Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). Neuropediatrics. 34: 322-5. PMID 14681759 DOI: 10.1055/S-2003-44671  1
2003 Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. American Journal of Medical Genetics. Part A. 123: 204-7. PMID 14598350 DOI: 10.1002/Ajmg.A.20289  1
2003 Goldenberg A, Milh M, de Lagausie P, Mesnage R, Benarif F, de Blois MC, Munnich A, Lyonnet S, Cormier-Daire V. Werner mesomelic dysplasia with Hirschsprung disease. American Journal of Medical Genetics. Part A. 123: 186-9. PMID 14598345 DOI: 10.1002/Ajmg.A.20285  1
2003 de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, ... ... Lyonnet S, et al. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Human Molecular Genetics. 12: 3173-80. PMID 14532329 DOI: 10.1093/Hmg/Ddg339  1
2003 Lyonnet S, Munnich A. Impact de l' information genetique dans les maladies pas comme les autres Archives De Pediatrie. 10. PMID 14509747 DOI: 10.1016/S0929-693X(03)90387-3  1
2003 Raqbi F, Bihan CL, Morisseau-Durand M, Dureau P, Lyonnet S, Abadie V. Early prognostic factors for intellectual outcome in CHARGE syndrome Developmental Medicine & Child Neurology. 45: 483-488. PMID 12828403 DOI: 10.1017/S0012162203000896  1
2003 Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Merrer ML, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes Journal of Medical Genetics. 40: 436-440. PMID 12807965 DOI: 10.1136/Jmg.40.6.436  1
2003 Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM. Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. Molecular Genetics and Metabolism. 78: 186-192. PMID 12649063 DOI: 10.1016/S1096-7192(03)00016-7  1
2003 Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genetics. 33: 459-61. PMID 12640453 DOI: 10.1038/Ng1130  1
2003 Amiel J, Pelet A, Trang H, de Pontual L, Simonneau M, Munnich A, Gaultier C, Lyonnet S. Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse). American Journal of Medical Genetics. Part A. 117: 18-20. PMID 12548735 DOI: 10.1002/Ajmg.A.10934  1
2003 Shojaei-Brosseau T, Bonaïti-Pellie C, Lyonnet S, Feingold J, Lucet V. Vagal overactivity: a risk factor of sudden infant death syndrome? Archives of Disease in Childhood. 88: 88. PMID 12495979 DOI: 10.1136/Adc.88.1.88  1
2002 Faivre L, Merrer ML, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Clinical and genetic heterogeneity of Seckel syndrome American Journal of Medical Genetics. 112: 379-383. PMID 12376940 DOI: 10.1002/Ajmg.10677  1
2002 Espinosa-Parrilla Y, Amiel J, Augé J, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Expression of the SMADIP1 gene during early human development. Mechanisms of Development. 114: 187-91. PMID 12175509 DOI: 10.1016/S0925-4773(02)00062-X  1
2002 Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, De Prost Y, Courtois G, Munnich A, Lyonnet S, Vabres P. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. The Journal of Investigative Dermatology. 119: 70-6. PMID 12164927 DOI: 10.1046/J.1523-1747.2002.01809.X  1
2002 Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, et al. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. Journal of Medical Genetics. 39: 266-70. PMID 11950856 DOI: 10.1136/Jmg.39.4.266  1
2002 Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. A CGH study of 27 patients with CHARGE association. Clinical Genetics. 61: 135-8. PMID 11940088 DOI: 10.1034/J.1399-0004.2002.610208.X  1
2002 Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D. Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology. 58: 962-965. PMID 11914417 DOI: 10.1212/Wnl.58.6.962  1
2002 Pinson S, Créange A, Barbarot S, Stalder JF, Chaix Y, Rodriguez D, Sanson M, Bernheim A, d'Incan M, Doz F, Stoll C, Combemale P, Kalifa C, Zeller J, Teillac-Hamel D, ... Lyonnet S, et al. [Neurofibromatosis 1: recommendations for management]. Archives De PéDiatrie : Organe Officiel De La SociéTe FrançAise De PéDiatrie. 9: 49-60. PMID 11865551 DOI: 10.1016/S0929-693X(01)00695-9  1
2002 Amiel J, Faivre L, Wilson L, Le Merrer M, Munnich A, Winter R, Lyonnet S, Cormier-Daire V, Stumm M. Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: A "Sotos-like" syndrome? [9] Journal of Medical Genetics. 39: 148-152. PMID 11836369 DOI: 10.1136/Jmg.39.2.148  1
2002 Viot G, Lacombe D, David A, Mathieu M, Broca Ad, Faivre L, Gigarel N, Munnich A, Lyonnet S, Merrer ML, Cormier-Daire V. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. American Journal of Medical Genetics. 107: 1-4. PMID 11807859 DOI: 10.1002/Ajmg.10028  1
2002 Sanlaville D, Lyonnet S, Amiel J. Le syndrome CHARGE Journal De PéDiatrie Et De PuéRiculture. 15: 209-214. DOI: 10.1016/S0987-7983(02)83059-6  1
2001 Sandrini F, Farmakidis C, Kirschner LS, Wu S, Tullio-Pelet A, Lyonnet S, Metzger DL, Bourdony CJ, Tiosano D, Chan W, Stratakis CA. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. The Journal of Clinical Endocrinology and Metabolism. 86: 5433-5437. PMID 11701718 DOI: 10.1210/Jcem.86.11.8037  1
2001 Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, ... Lyonnet S, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. American Journal of Human Genetics. 69: 1210-7. PMID 11673821 DOI: 10.1086/324591  1
2001 Holder-Espinasse M, de Blois MC, Faivre L, Romana S, Uteza Y, Munnich A, Lyonnet S, Cormier-Daire V, Amiel J. Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report. Clinical Dysmorphology. 10: 253-5. PMID 11665998 DOI: 10.1097/00019605-200110000-00003  1
2001 Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J. Pierre Robin sequence: a series of 117 consecutive cases. The Journal of Pediatrics. 139: 588-90. PMID 11598609 DOI: 10.1067/Mpd.2001.117784  1
2001 Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Merrer ML, Tanaka H, Till M, Touraine R, Toutain A, ... ... Lyonnet S, et al. Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures American Journal of Human Genetics. 69: 1370-1377. PMID 11595972 DOI: 10.1086/324342  1
2001 Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T. TP63 gene mutation in ADULT syndrome European Journal of Human Genetics. 9: 642-645. PMID 11528512 DOI: 10.1038/Sj.Ejhg.5200676  1
2001 Edery P, Deist FL, Briard M, Debré M, Munnich A, Griscelli C, Fischer A, Lyonnet S. B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? Journal of Medical Genetics. 38: 488-493. PMID 11476068 DOI: 10.1136/Jmg.38.7.488  1
2001 De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. The Journal of Pediatrics. 139: 111-6. PMID 11445803 DOI: 10.1067/Mpd.2001.115018  1
2001 Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, et al. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. European Journal of Human Genetics : Ejhg. 9: 319-27. PMID 11378819 DOI: 10.1038/Sj.Ejhg.5200591  1
2001 Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J. Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors The Journal of Clinical Endocrinology and Metabolism. 86: 2009-2014. PMID 11344199 DOI: 10.1210/Jcem.86.5.7501  1
2001 Boudjemline Y, Fermont L, Bidois JL, Lyonnet S, Sidi D, Bonnet D. Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study The Journal of Pediatrics. 138: 520-524. PMID 11295715 DOI: 10.1067/Mpd.2001.112174  1
2001 Amiel J, Attie-Bitach T, Marianowski R, Cormier-Daire V, Abadie V, Bonnet D, Gonzales M, Chemouny S, Brunelle F, Munnich A, Manach Y, Lyonnet S. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome American Journal of Medical Genetics. 99: 124-127. PMID 11241470 DOI: 10.1002/1096-8628(20010301)99:2<124::Aid-Ajmg1114>3.0.Co;2-9  1
2001 Viot G, Pannier E, Faivre L, Tantau J, Fallet-Bianco C, Dupont JM, Jouannet P, Aubry MC, Lyonnet S, Cabrol D. A new case of exomphalos, short limbs, and macrogonadism syndrome. Journal of Medical Genetics. 38: E8. PMID 11238685 DOI: 10.1136/Jmg.38.3.E8  1
2001 Imessaoudene B, Bonnefont J, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male Journal of Medical Genetics. 38: 171-174. PMID 11238684 DOI: 10.1136/Jmg.38.3.171  1
2001 Korsch E, Steinkuhle J, Massin M, Lyonnet S, Touraine RL. Impaired autonomic control of the heart by SOX10 mutation European Journal of Pediatrics. 160: 68-69. PMID 11195028 DOI: 10.1007/S004310000624  1
2001 Salomon R, Tellier A, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler M, Broyer M. PAX2 mutations in oligomeganephronia Kidney International. 59: 457-462. PMID 11168927 DOI: 10.1046/J.1523-1755.2001.059002457.X  1
2001 Amiel J, Faivre L, MarianowskI R, Bonnet D, Couly G, Manach Y, Merrer ML, Cormier-Daire V, Munnich A, Lyonnet S. Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases. Clinical Dysmorphology. 10: 15-18. PMID 11152141 DOI: 10.1097/00019605-200101000-00003  1
2001 Fuchs S, Amiel J, Claudel S, Lyonnet S, Corvol P, Pinet F. Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling. Molecular Medicine. 7: 115-124. DOI: 10.1007/Bf03401945  1
2000 Cross SJ, Ching YH, Li QY, Arsmtrong-Buisseret L, Spranger S, Lyonnet S, Bonnet D, Penttinen M, Jonveaux P, Leheup B, Mortier G, Van Ravenswaaij C, Gardiner CA, Brook JD, Newbury-Ecob R. The mutation spectrum in Holt-Oram syndrome [1] Journal of Medical Genetics. 37: 785-787. PMID 11183182 DOI: 10.1136/Jmg.37.10.785  1
2000 Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier A, Augé J, Bouissou F, Antignac C, Gubler M, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. European Journal of Human Genetics. 8: 820-826. PMID 11093271 DOI: 10.1038/Sj.Ejhg.5200539  1
2000 Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, Laet Md, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain J, Weissenbach J, ... ... Lyonnet S, et al. Mutant WD-repeat protein in triple-A syndrome Nature Genetics. 26: 332-335. PMID 11062474 DOI: 10.1038/81642  1
2000 Abadie V, Wiener-Vacher S, Morisseau-Durand M, Porée C, Amiel J, Amanou L, Peigné C, Lyonnet S, Manac'h Y. Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development European Journal of Pediatrics. 159: 569-574. PMID 10968232 DOI: 10.1007/S004319900409  1
2000 Aggoun Y, Sidi D, Levy BI, Lyonnet S, Kachaner J, Bonnet D. Mechanical properties of the common carotid artery in Williams syndrome Heart. 84: 290-293. PMID 10956293 DOI: 10.1136/Heart.84.3.290  1
2000 Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, Laët Md, Chaouachi B, Hannachi R, Bakiri F, Brauner R, Chaussain J, Munnich A, Lyonnet S. Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome. European Journal of Human Genetics. 8: 613-620. PMID 10951524 DOI: 10.1038/Sj.Ejhg.5200508  1
2000 Castanet M, Lyonnet S, Bonaïti-Pellié C, Polak M, Czernichow P, Léger J. Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. The New England Journal of Medicine. 343: 441-442. PMID 10939901 DOI: 10.1056/Nejm200008103430614  1
2000 Abadie V, Bonnet D, Lyonnet S, Couly G. Dysfonctionnement du tronc cérébral et cardiopathies congénitales Archives De Pediatrie. 7: 145. PMID 10904689 DOI: 10.1016/S0929-693X(00)80016-0  1
2000 Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N. Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up Journal of Medical Genetics. 37: 525-528. PMID 10882756 DOI: 10.1136/Jmg.37.7.525  1
2000 Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. Journal of Medical Genetics. 37: 520-4. PMID 10882755 DOI: 10.1136/Jmg.37.7.520  1
2000 Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. American Journal of Medical Genetics. 93: 85-8. PMID 10869107 DOI: 10.1002/1096-8628(20000717)93:2<85::Aid-Ajmg1>3.0.Co;2-B  1
2000 Faivre L, Bonnefont J-, Lyonnet S, Munnich A, Vekemans M. Improvement of cystic fibrosis using antitumoral drugs: a hypothesis. Medical Hypotheses. 54: 580-581. PMID 10859642 DOI: 10.1054/Mehy.1999.0899  1
2000 Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, ... ... Lyonnet S, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. American Journal of Human Genetics. 66: 1496-503. PMID 10762540 DOI: 10.1086/302895  1
2000 Lohmann L, Chelloug N, Rosales B, Guérin C, Lyonnet S, Jonveaux P, Simon-Bouy B. Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report. Prenatal Diagnosis. 20: 156-8. PMID 10694690 DOI: 10.1002/(Sici)1097-0223(200002)20:2<156::Aid-Pd758>3.0.Co;2-J  0.01
2000 Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann J, Pelet A, Nihoul-Fékété C, Vekemans M, Munnich A, Lyonnet S. Génétique moléculaire de la maladie de Hirschsprung: un modèle de neurocristopathie multigénique. Biologie Aujourd'Hui. 194: 125-128. DOI: 10.1051/Jbio/2000194030125  1
2000 Pingault V, Guiochon‐Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P. Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness : A developmental neural crest syndrome related to a SOX10 mutation Annals of Neurology. 48: 671-676. DOI: 10.1002/1531-8249(200010)48:4<671::Aid-Ana17>3.0.Co;2-8  1
1999 Dridi SM, Ghomrasseni S, Bonnet D, Aggoun Y, Vabres P, Bodemer C, Lyonnet S, Prost Yd, Fraitag S, Pellat B, Sidi D, Godeau G. Skin elastic fibers in Williams syndrome. American Journal of Medical Genetics. 87: 134-138. PMID 10533027 DOI: 10.1002/(Sici)1096-8628(19991119)87:2<134::Aid-Ajmg4>3.0.Co;2-R  1
1999 Picard C, Couderc S, Skojaei T, Salomon R, Lonlay PD, Merrer ML, Munnich A, Lyonnet S, Amiel J. Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement. Clinical Genetics. 56: 170-172. PMID 10517259 DOI: 10.1034/J.1399-0004.1999.560216.X  1
1999 Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S. Genetics of limb anomalies in humans Trends in Genetics. 15: 409-417. PMID 10498937 DOI: 10.1016/S0168-9525(99)01823-5  1
1999 Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clinical Genetics. 55: 478-482. PMID 10450867 DOI: 10.1034/J.1399-0004.1999.550614.X  1
1999 Amiel J, Lonlay Pd, Francannet C, Picard A, Bruel H, Rabier D, Merrer ML, Verhoeven N, Jakobs C, Lyonnet S, Munnich A. Facial anomalies in D-2-hydroxyglutaric aciduria. American Journal of Medical Genetics. 86: 124-129. PMID 10449646 DOI: 10.1002/(Sici)1096-8628(19990910)86:2<124::Aid-Ajmg7>3.0.Co;2-Q  1
1999 Lyonnet S, Morichon N, Dommergues M, Dumez Y, Briard ML, Vekemans M, Munnich A. Apport de la génétique Archives De Pediatrie. 6. PMID 10370496 DOI: 10.1016/S0929-693X(99)80428-X  1
1999 Takahashi M, Iwashita T, Santoro M, Lyonnet S, Lenoir GM, Billaud M. Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? Human Mutation. 13: 331-336. PMID 10220148 DOI: 10.1002/(Sici)1098-1004(1999)13:4<331::Aid-Humu11>3.0.Co;2-#  1
1999 Kara-Mostefa A, Raoul O, Lyonnet S, Amiel J, Munnich A, Vekemans M, Magnier S, Ossareh B, Bonnefont J. Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. American Journal of Human Genetics. 64: 1475-1478. PMID 10205282 DOI: 10.1086/302362  1
1999 Baala L, Rabia SH, Zlotogora J, Kabbaj K, Chhoul H, Munnich A, Lyonnet S, Sefiani A. Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. American Journal of Human Genetics. 64: 651-653. PMID 9973304 DOI: 10.1086/302239  1
1999 Amiel J, Cormier-Daire V, Journeau P, Mussat P, Munnich A, Lyonnet S. Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? Journal of Medical Genetics. 36: 561-564. DOI: 10.1136/Jmg.36.7.561  1
1999 Bonnet D, Fermont L, Kachaner J, Sidi D, Amiel J, Lyonnet S, Munnich A. Tricuspid atresia and conotruncal malformations in five families Journal of Medical Genetics. 36: 349-350. DOI: 10.1136/Jmg.36.4.349  1
1999 Myers SM, Salomon R, Goessling A, Pelet A, Eng C, Deimling AV, Lyonnet S, Mulligan LM. Investigation of germline GFRα-1 mutations in Hirschsprung disease Journal of Medical Genetics. 36: 217-220. DOI: 10.1136/Jmg.36.3.217  1
1999 Faivre L, Delezoide A-, Narcy F, Razavi F, Bouvier R, Cormier-Daire V, Briard M-, Lyonnet S, Vekemans M, Munnich A, Merrer ML. A new lethal syndrome of exomphalos, short limbs, and macrogonadism Journal of Medical Genetics. 36: 131-136. DOI: 10.1136/Jmg.36.2.131  1
1999 Shojaei T, Lacombe D, Lyonnet S, Amiel J, Philip N. Approche clinique de l'enfant dysmorphique Journal De PéDiatrie Et De PuéRiculture. 12: 75-80. DOI: 10.1016/S0987-7983(99)80225-4  1
1998 Attié-Bitach T, Abitbol M, Gérard M, Delezoide AL, Augé J, Pelet A, Amiel J, Pachnis V, Munnich A, Lyonnet S, Vekemans M. Expression of the RET proto-oncogene in human embryos. American Journal of Medical Genetics. 80: 481-6. PMID 9880212 DOI: 10.1002/(Sici)1096-8628(19981228)80:5<481::Aid-Ajmg8>3.0.Co;2-6  1
1998 Iserin L, Lonlay Pd, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. European Journal of Pediatrics. 157: 881-884. PMID 9835429 DOI: 10.1007/S004310050959  1
1998 de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. Ebstein anomaly associated with rearrangements of chromosomal region 11q. American Journal of Medical Genetics. 80: 157-9. PMID 9805133 DOI: 10.1002/(Sici)1096-8628(19981102)80:2<157::Aid-Ajmg12>3.0.Co;2-U  1
1998 Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P, Merrer ML. Presentation of six cases of Stüve-Wiedemann syndrome. Pediatric Radiology. 28: 776-780. PMID 9799300 DOI: 10.1007/S002470050464  1
1998 Limai J, Bonnet D, Bouc YL, Leheup B, Lyonnet S. Le syndrome de noonan: une énigme Archives De Pediatrie. 5: 715-718. PMID 9759268 DOI: 10.1016/S0929-693X(98)80049-3  1
1998 Saugier-Veber P, Martin C, Meur NL, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, et al. Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis Human Mutation. 12: 259-266. PMID 9744477 DOI: 10.1002/(Sici)1098-1004(1998)12:4<259::Aid-Humu7>3.0.Co;2-A  1
1998 Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, Attié T, Bachy B, Munnich A, Lyonnet S. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Human Molecular Genetics. 7: 1449-1452. PMID 9700200 DOI: 10.1093/Hmg/7.9.1449  1
1998 Cormier‐Daire V, Superti‐Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Lonlay PD, Giedion A, Maroteaux P, Merrer ML. Clinical homogeneity of the Stüve‐Wiedemann syndrome and overlap with the Schwartz‐Jampel syndrome type 2 American Journal of Medical Genetics. 78: 146-149. PMID 9674905 DOI: 10.1002/(Sici)1096-8628(19980630)78:2<146::Aid-Ajmg9>3.0.Co;2-M  1
1998 Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, ... ... Lyonnet S, et al. CHARGE syndrome: report of 47 cases and review. American Journal of Medical Genetics. 76: 402-9. PMID 9556299 DOI: 10.1002/(Sici)1096-8628(19980413)76:5<402::Aid-Ajmg7>3.0.Co;2-O  1
1998 Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, Munnich A, Sidi D, Bonnet D. Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of fallot and pulmonary atresia-ventricular septal defect Heart. 79: 186-190. PMID 9538314 DOI: 10.1136/Hrt.79.2.186  1
1998 Pelet A, Geneste O, Edery P, Pasini A, Chappuis S, Atti T, Munnich A, Lenoir G, Lyonnet S, Billaud M. Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. Journal of Clinical Investigation. 101: 1415-1423. PMID 9502784 DOI: 10.1172/Jci375  1
1998 Amiel J, Salomon R, Attié T, Pelet A, Trang H, Mokhtari M, Gaultier C, Munnich A, Lyonnet S. Mutations of the RET-GDNF signaling pathway in Ondine's curse. American Journal of Human Genetics. 62: 715-717. PMID 9497256 DOI: 10.1086/301759  1
1998 Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nature Genetics. 18: 171-3. PMID 9462749 DOI: 10.1038/Ng0298-171  1
1998 Doray B, Salomon R, Amiel J, Pelet A, Attié T, Munnich A, Lyonnet S. Mutation du gène neurturine dans la maladie de Hirschsprung: argument en faveur du modèle multigénique Archives De Pediatrie. 5: 582. DOI: 10.1016/S0929-693X(99)80335-2  1
1998 Amiel J, Lacombe D, Attié T, Munnich A, Lyonnet S. Des malformations congénitales aux tumeurs de l'enfant Archives De Pediatrie. 5: 88. DOI: 10.1016/S0929-693X(98)81257-8  1
1998 Baud O, Lyonnet S, Cormie V, Quintana E, Michon J, Pacquement H, Brugière L, Desjardins L, Turleau C, Zucker J, Doz F. Réinoblastome et anomalies cytogénétiques : à propos de 20 cas Archives De Pediatrie. 5: 700. DOI: 10.1016/S0929-693X(98)80186-3  1
1997 Lonlay-Debeney Pd, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. Features of DiGeorge syndrome and CHARGE association in five patients. Journal of Medical Genetics. 34: 986-989. PMID 9429139 DOI: 10.1136/Jmg.34.12.986  1
1997 Bader-Meunier B, Tchernia G, Miélot F, Fontaine JL, Thomas C, Lyonnet S, Lavergne JM, Dommergues JP. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. The Journal of Pediatrics. 130: 885-9. PMID 9202609 DOI: 10.1016/S0022-3476(97)70273-7  1
1997 Edery P, Munnich A, Lyonnet S, Eng C. Ret in human development and oncogenesis Bioessays. 19: 389-395. PMID 9174404 DOI: 10.1002/Bies.950190506  1
1997 Bienvenu T, Bousquet S, Lyonnet S, Kaplan J, Beldjord C. 1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene. Human Heredity. 47: 173-175. PMID 9156329 DOI: 10.1159/000154407  1
1997 Cormier-Daire V, Merrer ML, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Prezygotic origin of the isochromosome 12p in Pallister‐Killian syndrome American Journal of Medical Genetics. 69: 166-168. PMID 9056554 DOI: 10.1002/(Sici)1096-8628(19970317)69:2<166::Aid-Ajmg9>3.0.Co;2-N  1
1997 Bonnet D, Cormier-Daire V, Kachaner J, Szezepanski I, Souillard P, Sidi D, Munnich A, Lyonnet S. Microsatellite DNA markers detects 95% of chromosome 22q11 deletions American Journal of Medical Genetics. 68: 182-184. PMID 9028455 DOI: 10.1002/(Sici)1096-8628(19970120)68:2<182::Aid-Ajmg12>3.0.Co;2-Q  1
1997 Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis ARJ, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury ( T ) gene family Nature Genetics. 15: 21-29. PMID 8988164 DOI: 10.1038/Ng0197-21  1
1997 Grab JJ, Dreno B, Delaunay M, Chastang C, Cupissol D, Guillot B, Souteyrand P, Sassolas B, Cesarini JP, Lyonnet S, Lok C, Mansat E, Lacour JP, Thomas L, Beylot M, et al. Long term results of an adjuvant therapy with low doses IFN-??2A in resected primary melanoma thicker than 1.5 mm without clinically detectable node metastases: 113 Melanoma Research. 7. DOI: 10.1097/00008390-199706001-00113  1
1997 Cormier-Daire V, Brauner R, Edery P, Lyonnet S, Munnich A. Le syndrome de floating-harbor: présentation d'une nouvelle observation et revue de la littérature Archives De Pediatrie. 4: 230. DOI: 10.1016/S0929-693X(97)86570-0  1
1997 Salomon R, Attié T, Amiel J, Nihoul-Fékété C, Munnich A, Lyonnet S. Crêtes neurales et malformations congénitales Archives De Pediatrie. 4: 693-694. DOI: 10.1016/S0929-693X(97)83382-9  1
1997 Bidaud C, Salomon R, Camp GV, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. European Journal of Human Genetics. 5: 247-251. DOI: 10.1007/Bf03405925  1
1996 Raas-Rothschild A, Manouvrier S, Gonzales M, Farriaux JP, Lyonnet S, Munnich A. Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. Journal of Medical Genetics. 33: 996-1001. PMID 9004130 DOI: 10.1136/Jmg.33.12.996  1
1996 Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nature Genetics. 14: 345-347. PMID 8896569 DOI: 10.1038/Ng1196-345  1
1996 Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Human Molecular Genetics. 5: 355-7. PMID 8852660 DOI: 10.1093/Hmg/5.3.355  1
1996 Lyonnet S, Bonnefont J, Briard M, Munnich A. L'essor de la génetique: quels bénéfices pour les enfants? Archives De Pediatrie. 3. PMID 8796075 DOI: 10.1016/0929-693X(96)86100-8  1
1996 Abadie V, Chéron G, Lyonnet S, Hubert P, Morisseau-Durand MP, Jan D, Manac'h Y, Couly G. [Isolated neonatal dysfunction of brainstem]. Archives De PéDiatrie : Organe Officiel De La SociéTe FrançAise De PéDiatrie. 3: 130-6. PMID 8785532 DOI: 10.1016/0929-693X(96)85063-9  1
1996 l'enfant d, Abadie V, Depondt E, Farriaux J, Lepercq J, Lyonnet S, Maurin N, Baulny HOd, Vidailhet M. La grossesse et l'enfant de mère phénylcétonurique Archives De Pediatrie. 3: 489-496. PMID 8763723 DOI: 10.1016/0929-693X(96)86411-6  1
1996 Caron P, Attié T, David D, Amiel J, Brousset F, Roger P, Munnich A, Lyonnet S. C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease The Journal of Clinical Endocrinology and Metabolism. 81: 2731-2733. PMID 8675603 DOI: 10.1210/Jcem.81.7.8675603  1
1996 Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RMW, Martelli H, Bidaud C, Munnich A, Lyonnet S. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) Nature Genetics. 12: 442-444. PMID 8630502 DOI: 10.1038/Ng0496-442  1
1996 Villard L, Gecz J, Mattéi JF, Fontés M, Saugier-Veber P, Munnich A, Lyonnet S. XNP mutation in a large family with Juberg-Marsidi syndrome. Nature Genetics. 12: 359-60. PMID 8630485 DOI: 10.1038/Ng0496-359  1
1996 Bonnet D, Sidi D, Souillard P, Szezepanski I, Kachaner J, Munnich A, Lyonnet S. Diagnostic rapide de la microdélétion interstitielle du chromosome 22 chez les nouveau-nés ayant une cardiopathie conotruncale Archives De Pediatrie. 3: 735-736. DOI: 10.1016/0929-693X(96)87112-0  1
1995 Attié T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Human Molecular Genetics. 4: 2407-2409. PMID 8634719 DOI: 10.1093/Hmg/4.12.2407  1
1995 Héron D, Lyonnet S, Iserin L, Munnich A, Padovani J. Sternal cleft : case report and review of a series of nine patients American Journal of Medical Genetics. 59: 154-156. PMID 8588577 DOI: 10.1002/Ajmg.1320590207  1
1995 Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Upper limb malformations in DiGeorge syndrome. American Journal of Medical Genetics. 56: 39-41. PMID 7747784 DOI: 10.1002/Ajmg.1320560111  1
1995 Saugier-Veber P, Munnich A, Lyonnet S, Toutain A, Moraine C, Piussan C, Mathieu M, Gibbons RJ. Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? American Journal of Medical Genetics. 55: 300-301. PMID 7726226 DOI: 10.1002/Ajmg.1320550310  1
1995 Cormier-Daire V, Lyonnet S, Lehnert A, Martin D, Salomon R, Patey N, Broyer M, Ricour C, Munnich A. Craniosynostosis and kidney malformation in a case of Hennekam syndrome. American Journal of Medical Genetics. 57: 66-68. PMID 7645602 DOI: 10.1002/Ajmg.1320570115  1
1995 Attié T, Till M, Pelet A, Edery P, Bonnet JP, Munnich A, Lyonnet S. Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease. Journal of Medical Genetics. 32: 312-313. PMID 7643365 DOI: 10.1136/Jmg.32.4.312  1
1995 Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, Ponder BAJ, Lyonnet S. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease Human Molecular Genetics. 4: 1381-1386. PMID 7581377 DOI: 10.1093/Hmg/4.8.1381  1
1995 Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carre M, Parrot Rouleau F, Menget A, Bonardi JM, Lyonnet S, Bonnefont JP, Munnich A. Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia Prenatal Diagnosis. 15: 757-761. PMID 7479595 DOI: 10.1002/Pd.1970150812  1
1995 Héron D, Villemeur TBd, Munnich A, Lyonnet S. Filippi syndrome: a new case with skeletal abnormalities. Journal of Medical Genetics. 32: 659-661. PMID 7473664 DOI: 10.1136/Jmg.32.8.659  1
1995 Lyonnet S, Brice A, Zlotogora J. Israel-France binational symposium on 'hereditary diseases, molecular diagnosis and gene therapy'. European Journal of Human Genetics. 3: 378-381. DOI: 10.1159/000472327  1
1995 Attié T, Pelet A, Eng C, Nihoul-Fékété C, Munnich A, Lyonnet S. Mutations du proto-oncogène RET dans la maladie de Hirschsprung Archives De Pediatrie. 2: 399-400. DOI: 10.1016/0929-693X(95)90207-J  1
1995 Gilbert-Dussardier B, Bonneau D, Gigarel N, Merrer ML, Lyonnet S, Philip N, Weissenbach J, Mattei M, Munnich A. Un nouveau marqueur du chromosome 7 révèle une hémizygotie de la région de l'élastine chez 75% de patients présentant un syndrome de Williams Archives De Pediatrie. 2: 399. DOI: 10.1016/0929-693X(95)90205-H  1
1995 Abadie V, Cheron G, Lyonnet S, Morisseau M, Couly G. Le dysfonctionnement néonatal du trone cérébral Archives De Pediatrie. 2: 399. DOI: 10.1016/0929-693X(95)90204-G  1
1995 Parent P, Floch J, Merrer ML, Lyonnet S, Bonneau D, Mathieu M, Maroteaux P, Parseau Ld, Floch H, Munnich A. Approche de la localisation du gène du nanisme diastrophique: à partir de l'analyse de sept familles Archives De Pediatrie. 2: 396. DOI: 10.1016/0929-693X(95)90196-A  1
1994 Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M. Three new cases of the Schinzel-Giedion syndrome and review of the literature. American Journal of Medical Genetics. 50: 90-3. PMID 8160760 DOI: 10.1002/Ajmg.1320500120  1
1994 Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékété C, Ponder BAJ, Munnich A. Mutations of the RET proto-oncogene in Hirschsprung's disease Nature. 367: 378-380. PMID 8114939 DOI: 10.1038/367378A0  1
1994 Coucke P, Vits L, Camp GV, Serville F, Lyonnet S, Kenwrick S, Rosenthal A, Wehnert M, Munnich A, Willems PJ. Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family Human Molecular Genetics. 3: 671-673. PMID 8069317 DOI: 10.1093/Hmg/3.4.671  1
1994 Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, Kachaner J, Munnich A, Lyonnet S. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12 Nature Genetics. 6: 405-408. PMID 8054983 DOI: 10.1038/Ng0494-405  1
1994 Pelet A, Attie T, Goulet O, Eng C, Ponder BJ, Munnich A, Lyonnet S. De-novo mutations of the RET proto-oncogene in Hirschsprung's disease. The Lancet. 344: 1769-1770. PMID 7997019 DOI: 10.1016/S0140-6736(94)92908-4  1
1994 Attie T, Pelet A, Sarda P, Eng C, Edery P, Mulligan LM, Ponder BAJ, Munnich A, Lyonnet S. A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease Human Molecular Genetics. 3: 1439-1440. PMID 7987334 DOI: 10.1093/Hmg/3.8.1439  1
1994 Gregersen N, Winter V, Lyonnet S, Saudubray JM, Wendel U, Jensen TG, Andresen BS, Kølvraa S, Lehnert W, Bolund L, Christensen E, Bross P. Molecular Genetic Characterization and Urinary Excretion Pattern of Metabolites in Two Families~with MCAD Deficiency due to Compound Heterozygosity with a 13 Base Pair Insertion in One Allele Journal of Inherited Metabolic Disease. 17: 169-184. PMID 7967471 DOI: 10.1007/Bf00711614  1
1994 Edery P, Attié T, Mulligan LM, Pelet A, Eng C, Ponder BAJ, Munnich A, Lyonnet S. A novel polymorphism in the coding sequence of the human RET proto-oncogene Human Genetics. 94: 579-580. PMID 7959702 DOI: 10.1007/Bf00211034  1
1994 Chadefaux-Vekemans B, Rolland MO, Lyonnet S, Rabier D, Divry P, Kamoun P. Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant) Prenatal Diagnosis. 14: 417-418. PMID 7916155 DOI: 10.1002/Pd.1970140517  0.01
1994 Mulligan LM, Eng C, Attlé T, Lyonnet S, Marsh DJ, Hyland VJ, Robinson BG, Frilling A, Verellen-Dumoulln C, Safar A, Venter DJ, Munnich A, Ponder BAJ. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene Human Molecular Genetics. 3: 2163-2167. PMID 7881414 DOI: 10.1093/Hmg/3.12.2163  1
1994 Edery P, Manach Y, Merrer ML, Till M, Vignal A, Lyonnet S, Munnich A. Apparent genetic homogeneity of the treacher Collins-Franceschetti syndrome American Journal of Medical Genetics. 52: 174-177. PMID 7802004 DOI: 10.1002/Ajmg.1320520210  1
1994 Lyonnet S, Attié T, Edery P, Nihoul-Fékété C, Munnich A. Génétique de la maladie de Hirschsprung Journal De PéDiatrie Et De PuéRiculture. 7: 328-331. DOI: 10.1016/S0987-7983(05)80398-6  1
1994 Ponder B, Mulligan L, Eng C, Edery P, Lyonnet S, Smith D, Tunnacliffe A, Kwok J. The multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease are due to different mutations in the receptor tyrosine kinase ret Cancer Genetics and Cytogenetics. 77: 158. DOI: 10.1016/0165-4608(94)90272-0  1
1993 Camp GV, Vits L, Coucke P, Lyonnet S, Schrander-Stumpel C, Darby J, Holden J, Munnich A, Willems PJ. A duplication in the L1CAM gene associated with X–linked hydrocephalus Nature Genetics. 4: 421-425. PMID 8401593 DOI: 10.1038/Ng0893-421  1
1993 Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genetics. 4: 346-50. PMID 8401580 DOI: 10.1038/Ng0893-346  1
1993 Serville F, Benit P, Saugier P, Vibert M, Royer G, Pelet A, Chery M, Munnich A, Lyonnet S. Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers. Prenatal Diagnosis. 13: 435-439. PMID 8372068 DOI: 10.1002/Pd.1970130603  1
1993 Flintoff WF, Bahuau M, Lyonnet S, Gilgenkrantz S, Lacombe D, Marcon F, Levilliers J, Kachaner J, Munnich A, Le Merrer M. No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families American Journal of Medical Genetics. 46: 700-705. PMID 8362913 DOI: 10.1002/Ajmg.1320460621  1
1993 Abadie V, Jaruzelska J, Lyonnet S, Millasseau P, Berthelon M, Rey F, Munnich A, Rey J. IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria Human Molecular Genetics. 2: 31-34. PMID 8098245 DOI: 10.1093/Hmg/2.1.31  1
1993 Jaruzelska J, Matuszak R, Lyonnet S, Rey F, Rey J, Filipowicz J, Borski K, Munnich A. Genetic background of clinical homogeneity of phenylketonuria in Poland. Journal of Medical Genetics. 30: 232-234. PMID 8097262 DOI: 10.1136/Jmg.30.3.232  1
1993 Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SLC, Shiloh Y. A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. Human Genetics. 90: 645-649. PMID 8095248 DOI: 10.1007/Bf00202483  1
1992 Lyonnet S, Schwartz G, Gatin G, Prost Yd, Munnich A, Merrer ML. Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? Journal of Medical Genetics. 29: 68-69. PMID 1552551 DOI: 10.1136/Jmg.29.1.68  1
1992 Merrer ML, Othmane KB, Stanescu V, Lyonnet S, Maldergem LV, Royer G, Munnich A, Maroteaux P. The Gene for Hereditary Multiple Exostoses Does Not Map To the Langer-giedion Region (8q23-q24) Journal of Medical Genetics. 29: 713-715. PMID 1433231 DOI: 10.1136/Jmg.29.10.713  1
1992 Lyonnet S, Pelet A, Royer G, Delrieu O, Serville F, Marec BL, Gruensteudel A, Pfeiffer RA, Briard M, Dubay C, Hors-Cayla M, Merrer Ml, Munnich A. The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52. Genomics. 14: 508-510. PMID 1427869 DOI: 10.1016/S0888-7543(05)80254-X  1
1992 Serville F, Lyonnet S, Pelet A, Reynaud M, Louail C, Munnich A, Merrer ML. X-linked hydrocephalus: clinical heterogeneity at a single gene locus. European Journal of Pediatrics. 151: 515-518. PMID 1396913 DOI: 10.1007/Bf01957757  1
1992 Caillaud C, Vilarinho L, Vilarinho A, Rev F, Bertheion M, Santos R, Lyonnet S, Briard M, Osorio RV, Rev J, Munnich A. Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal. Human Genetics. 89: 69-72. PMID 1349566 DOI: 10.1007/Bf00207045  1
1991 Roux C, Rey F, Lyonnet S, Nizard S, Mulliez N, Munnich A. An animal model for maternal phenylketonuria. Journal of Medical Genetics. 28: 718-719. PMID 1941970 DOI: 10.1136/Jmg.28.10.718  1
1991 Dumez Y, Dommergues M, Lyonnet S, Tada K, Kaplan J, Mandelbrot L. First‐trimester prenatal diagnosis in quintuplets: A practical approach using step‐by‐step embryo reduction Prenatal Diagnosis. 11: 737-740. PMID 1788180 DOI: 10.1002/Pd.1970110912  1
1991 Craemer DD, Zweens M, Lyonnet S, Wanders R, Poll-The B, Schutgens R, Waelkens J, Saudubray J, Roels F. Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. Virchows Archiv. 419: 523-525. PMID 1750197 DOI: 10.1007/Bf01650683  1
1991 Melle D, Verelst P, Rey F, Berthelon M, Francois B, Munnich A, Lyonnet S. Two distinct mutations at a single BamHI site in phenylketonuria. Journal of Medical Genetics. 28: 38-40. PMID 1671881 DOI: 10.1136/Jmg.28.1.38  1
1991 Craemer DD, Zweens M, Lyonnet S, Wanders R, Poll-The B, Waelkens J, Schutgens R, Saudubray J, Roels F. Peroxisomes are enlarged in two patients with peroxisomal diseases: Novel cases Micron and Microscopica Acta. 22: 263-264. DOI: 10.1016/0739-6260(91)90013-P  1
1990 Nicolas J, Thivolet J, Kanitakis J, Lyonnet S. Response of discoid and subacute cutaneous lupus erythematosus to recombinant interferon alpha 2a. Journal of Investigative Dermatology. 95. PMID 2258631 DOI: 10.1111/1523-1747.Ep12875049  0.01
1990 Thompson GN, Walter JH, Bresson JL, Ford GC, Lyonnet SL, Chalmers RA, Saudubray JM, Leonard JV, Halliday D. Sources of propionate in inborn errors of propionate metabolism Metabolism. 39: 1133-1137. PMID 2233273 DOI: 10.1016/0026-0495(90)90084-P  1
1990 Thompson GN, Chalmers RA, Walter JH, Bresson JL, Lyonnet SL, Reed PJ, Saudubray JM, Leonard JV, Halliday D. The use of metronidazole in management of methylmalonic and propionic acidaemias. European Journal of Pediatrics. 149: 792-6. PMID 2226555 DOI: 10.1007/BF01957284  1
1989 Mangeney M, Cardot P, Lyonnet S, Coupe C, Benarous R, Munnich A, Girard J, Chambaz J, Bereziat G. Apolipoprotein‐E‐gene expression in rat liver during development in relation to insulin and glucagon Febs Journal. 181: 225-230. PMID 2653821 DOI: 10.1111/J.1432-1033.1989.Tb14715.X  1
1989 Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei J, Rey J, Rey F, Munnich A. CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics. 5: 936-939. PMID 2574153 DOI: 10.1016/0888-7543(89)90137-7  1
1989 Lyonnet S, Bonnefont JP, Saudubray JM, Nihoule-Fekete C, Brunelle F. Localisation Of Focal Lesion Permitting Partial Pancreatectomy In Infants The Lancet. 334: 671. PMID 2570912 DOI: 10.1016/S0140-6736(89)90907-0  1
1988 Lyonnet S, Caillaud C, Rey F, Berthelon M, Frezal J, Rey J, Munnich A. Guthrie Cards For Detection Of Point Mutations In Phenylketonuria The Lancet. 332: 507. PMID 2900424 DOI: 10.1016/S0140-6736(88)90148-1  1
1988 Lyonnet S, Coupé C, Girard J, Kahn A, Munnich A. In vivo regulation of glycolytic and gluconeogenic enzyme gene expression in newborn rat liver. Journal of Clinical Investigation. 81: 1682-1689. PMID 2838519 DOI: 10.1172/Jci113506  1
1987 Ogier H, Munnich A, Lyonnet S, Vaulont S, Reach G, Kahn A. Dietary and hormonal regulation of L-type pyruvate kinase gene expression in rat small intestine Febs Journal. 166: 365-370. PMID 3038539 DOI: 10.1111/J.1432-1033.1987.Tb13524.X  1
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