| Year |
Citation |
Score |
| 2024 |
Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, Mosnier I, Lyonnet S, Brioude F, Serey Gaut M, Marlin S. HDR syndrome: Large cohort and systematic review. Clinical Genetics. PMID 38940299 DOI: 10.1111/cge.14583 |
0.314 |
|
| 2024 |
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A. Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. Bmc Medical Informatics and Decision Making. 24: 134. PMID 38789985 DOI: 10.1186/s12911-024-02538-8 |
0.512 |
|
| 2024 |
Hennocq Q, Garcelon N, Bongibault T, Bouygues T, Marlin S, Amiel J, Boutaud L, Douillet M, Lyonnet S, Pingault V, Picard A, Rio M, Attie-Bitach T, Khonsari RH, Roux N. Artificial intelligence-based diagnosis in fetal pathology using external ear shapes. Prenatal Diagnosis. PMID 38635411 DOI: 10.1002/pd.6577 |
0.546 |
|
| 2024 |
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, et al. Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome. Scientific Reports. 14: 2330. PMID 38282012 DOI: 10.1038/s41598-024-52691-3 |
0.552 |
|
| 2023 |
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, et al. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101059. PMID 38158857 DOI: 10.1016/j.gim.2023.101059 |
0.605 |
|
| 2023 |
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, ... ... Lyonnet S, et al. Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. American Journal of Human Genetics. PMID 37963460 DOI: 10.1016/j.ajhg.2023.10.013 |
0.336 |
|
| 2023 |
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, ... ... Lyonnet S, et al. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European Journal of Human Genetics : Ejhg. PMID 37872275 DOI: 10.1038/s41431-023-01474-x |
0.541 |
|
| 2023 |
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, ... ... Lyonnet S, et al. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101007. PMID 37860968 DOI: 10.1016/j.gim.2023.101007 |
0.549 |
|
| 2023 |
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, et al. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes. Frontiers in Pediatrics. 11: 1171277. PMID 37664547 DOI: 10.3389/fped.2023.1171277 |
0.558 |
|
| 2022 |
Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, Michot C, Baujat G, Rio M, Cormier-Daire V, Abadie V, Sarnacki S, Delacourt C, Lyonnet S, Attié-Bitach T, et al. Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. American Journal of Medical Genetics. Part A. PMID 36271508 DOI: 10.1002/ajmg.a.62989 |
0.586 |
|
| 2022 |
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, et al. Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 15: 871557. PMID 35571366 DOI: 10.3389/fnmol.2022.871557 |
0.662 |
|
| 2021 |
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, et al. TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 14: 757646. PMID 35002618 DOI: 10.3389/fnmol.2021.757646 |
0.714 |
|
| 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 |
0.592 |
|
| 2021 |
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, ... ... Lyonnet S, et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics. PMID 33909992 DOI: 10.1016/j.ajhg.2021.04.007 |
0.381 |
|
| 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 |
0.542 |
|
| 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 |
0.334 |
|
| 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 |
0.352 |
|
| 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 |
0.363 |
|
| 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 |
0.553 |
|
| 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 |
0.719 |
|
| 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 |
0.409 |
|
| 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 |
0.406 |
|
| 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 |
0.506 |
|
| 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 |
0.447 |
|
| 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 |
0.424 |
|
| 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 |
0.324 |
|
| 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 |
0.422 |
|
| 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 |
0.367 |
|
| 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 |
0.404 |
|
| 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 |
0.492 |
|
| 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 |
0.466 |
|
| 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 |
0.409 |
|
| 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 |
0.382 |
|
| 2019 |
Bessis D, Morice‐Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn A, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj‐Rabia S, Jacquemont M, Lacombe D, ... Lyonnet S, et al. Dermatological manifestations in cardiofaciocutaneous syndrome British Journal of Dermatology. 180: e17-e17. DOI: 10.1111/Bjd.17371 |
0.391 |
|
| 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 |
0.474 |
|
| 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 |
0.391 |
|
| 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 |
0.438 |
|
| 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 |
0.467 |
|
| 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 |
0.787 |
|
| 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 |
0.338 |
|
| 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 |
0.352 |
|
| 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 |
0.371 |
|
| 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 |
0.643 |
|
| 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 |
0.442 |
|
| 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 |
0.649 |
|
| 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 |
0.482 |
|
| 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 |
0.783 |
|
| 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 |
0.376 |
|
| 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 |
0.435 |
|
| 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 |
0.429 |
|
| 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 |
0.461 |
|
| 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 |
0.408 |
|
| 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 |
0.496 |
|
| 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 |
0.484 |
|
| 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 |
0.401 |
|
| 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 |
0.302 |
|
| 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 |
0.421 |
|
| 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 |
0.459 |
|
| 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 |
0.517 |
|
| 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 |
0.404 |
|
| 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 |
0.447 |
|
| 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 |
0.52 |
|
| 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 |
0.767 |
|
| 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 |
0.338 |
|
| 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 |
0.597 |
|
| 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 |
0.324 |
|
| 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 |
0.404 |
|
| 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 |
0.491 |
|
| 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 |
0.436 |
|
| 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 |
0.779 |
|
| 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 |
0.502 |
|
| 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 |
0.341 |
|
| 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 |
0.325 |
|
| 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 |
0.307 |
|
| 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 |
0.393 |
|
| 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 |
0.487 |
|
| 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 |
0.505 |
|
| 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 |
0.369 |
|
| 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 |
0.637 |
|
| 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 |
0.697 |
|
| 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 |
0.405 |
|
| 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 |
0.742 |
|
| 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 |
0.409 |
|
| 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 |
0.777 |
|
| 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 |
0.306 |
|
| 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 |
0.372 |
|
| 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 |
0.371 |
|
| 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 |
0.356 |
|
| 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 |
0.315 |
|
| 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 |
0.457 |
|
| 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 |
0.666 |
|
| 2014 |
Gordon CT, Lyonnet S. Enhancer mutations and phenotype modularity. Nature Genetics. 46: 3-4. PMID 24370740 DOI: 10.1038/Ng.2861 |
0.45 |
|
| 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 |
0.413 |
|
| 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 |
0.524 |
|
| 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 |
0.785 |
|
| 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 |
0.51 |
|
| 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 |
0.389 |
|
| 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 |
0.322 |
|
| 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 |
0.469 |
|
| 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 |
0.398 |
|
| 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 |
0.409 |
|
| 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 |
0.376 |
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| 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 |
0.474 |
|
| 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 |
0.467 |
|
| 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 |
0.391 |
|
| 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 |
0.423 |
|
| 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 |
0.495 |
|
| 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 |
0.517 |
|
| 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 |
0.321 |
|
| 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 |
0.45 |
|
| 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 |
0.658 |
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| 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 |
0.382 |
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| 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 |
0.659 |
|
| 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 |
0.672 |
|
| 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 |
0.468 |
|
| 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 |
0.792 |
|
| 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 |
0.512 |
|
| 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 |
0.392 |
|
| 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 |
0.352 |
|
| 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 |
0.378 |
|
| 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 |
0.78 |
|
| 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 |
0.805 |
|
| 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 |
0.644 |
|
| 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 |
0.436 |
|
| 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 |
0.62 |
|
| 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 |
0.812 |
|
| 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 |
0.407 |
|
| 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 |
0.465 |
|
| 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 |
0.721 |
|
| 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 |
0.414 |
|
| 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 |
0.35 |
|
| 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 |
0.46 |
|
| 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 |
0.451 |
|
| 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 |
0.826 |
|
| 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 |
0.705 |
|
| 2011 |
van der Werf CS, Wabbersen TD, Hsiao N, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Schreiber RA, Hoffenberg EJ, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, te Meerman GJ, et al. Identification of the Gene Underlying Congenital Short Bowel Syndrome, Pointing to Its Major Role in Intestinal Development Gastroenterology. 140: S-89. DOI: 10.1016/S0016-5085(11)60364-8 |
0.781 |
|
| 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 |
0.373 |
|
| 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 |
0.818 |
|
| 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 |
0.355 |
|
| 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 |
0.421 |
|
| 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 |
0.506 |
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| 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 |
0.386 |
|
| 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 |
0.428 |
|
| 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 |
0.526 |
|
| 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 |
0.709 |
|
| 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 |
0.386 |
|
| 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 |
0.367 |
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| 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 |
0.339 |
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| 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 |
0.717 |
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| 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 |
0.345 |
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| 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 |
0.487 |
|
| 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 |
0.46 |
|
| 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 |
0.345 |
|
| 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 |
0.349 |
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| 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 |
0.837 |
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| 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 |
0.391 |
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| 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 |
0.419 |
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| 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 |
0.356 |
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| 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 |
0.835 |
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| 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 |
0.8 |
|
| 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 |
0.435 |
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| 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 |
0.468 |
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| 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 |
0.391 |
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| 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 |
0.405 |
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| 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 |
0.738 |
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| 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 |
0.438 |
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| 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 |
0.772 |
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| 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 |
0.373 |
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| 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 |
0.316 |
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| 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 |
0.831 |
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| 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 |
0.511 |
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| 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 |
0.419 |
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| 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 |
0.359 |
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| 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 |
0.448 |
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| 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 |
0.33 |
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| 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 |
0.311 |
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| 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 |
0.335 |
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| 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 |
0.345 |
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| 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 |
0.836 |
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| 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 |
0.655 |
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| 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 |
0.491 |
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| 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 |
0.847 |
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| 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 |
0.812 |
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| 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 |
0.449 |
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| 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 |
0.782 |
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| 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 |
0.458 |
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| 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 |
0.725 |
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| 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 |
0.839 |
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| 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 |
0.661 |
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| 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 |
0.807 |
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| 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 |
0.483 |
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| 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 |
0.383 |
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| 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 |
0.851 |
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| 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 |
0.455 |
|
| 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 |
0.727 |
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| 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 |
0.419 |
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| 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 |
0.372 |
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| 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 |
0.434 |
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| 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 |
0.474 |
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| 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 |
0.317 |
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| 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 |
0.32 |
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| 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 |
0.362 |
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| 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 |
0.799 |
|
| 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 |
0.437 |
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| 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 |
0.432 |
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| 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 |
0.479 |
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| 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 |
0.35 |
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| 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 |
0.399 |
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| 2005 |
Pinto G, Abadie V, Mesnage R, Blustajn J, Cabrol S, Amiel J, Hertz-Pannier L, Bertrand AM, Lyonnet S, Rappaport R, Netchine I. CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. The Journal of Clinical Endocrinology and Metabolism. 90: 5621-6. PMID 16030162 DOI: 10.1210/Jc.2004-2474 |
0.359 |
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| 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 |
0.421 |
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| 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 |
0.376 |
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| 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 |
0.506 |
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| 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 |
0.502 |
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| 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 |
0.411 |
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| 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 |
0.506 |
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| 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 |
0.416 |
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| 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 |
0.371 |
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| 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 |
0.435 |
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| 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 |
0.52 |
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| 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 |
0.788 |
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| 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 |
0.477 |
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| 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 |
0.302 |
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| 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 |
0.522 |
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| 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 |
0.819 |
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| 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 |
0.331 |
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| 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 |
0.535 |
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| 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 |
0.405 |
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| 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 |
0.38 |
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| 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 |
0.466 |
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| 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 |
0.835 |
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| 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 |
0.457 |
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| 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 |
0.519 |
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| 2004 |
Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio-Pelet A, Lyonnet S, de Villemeur TB. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 344-6. PMID 15022193 DOI: 10.1002/Mds.10660 |
0.472 |
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| 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 |
0.5 |
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| 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 |
0.478 |
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| 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 |
0.348 |
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| 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 |
0.479 |
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| 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 |
0.344 |
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| 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 |
0.373 |
|
| 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 |
0.66 |
|
| 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 |
0.485 |
|
| 2003 |
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N. Lamin a truncation in Hutchinson-Gilford progeria. Science (New York, N.Y.). 300: 2055. PMID 12702809 DOI: 10.1126/Science.1084125 |
0.381 |
|
| 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 |
0.842 |
|
| 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 |
0.445 |
|
| 2003 |
Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Human Molecular Genetics. 11: 2051-9. PMID 12165566 DOI: 10.1093/Hmg/11.17.2051 |
0.423 |
|
| 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 |
0.426 |
|
| 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 |
0.409 |
|
| 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 |
0.797 |
|
| 2002 |
Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nature Genetics. 31: 89-93. PMID 11953745 DOI: 10.1038/Ng868 |
0.636 |
|
| 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 |
0.358 |
|
| 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 |
0.367 |
|
| 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 |
0.495 |
|
| 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 |
0.386 |
|
| 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 |
0.347 |
|
| 2002 |
Bahuau M, Pelet A, Vidaud D, Lamireau T, LeBail B, Munnich A, Vidaud M, Lyonnet S, Lacombe D. GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. Journal of Medical Genetics. 38: 638-43. PMID 11565554 DOI: 10.1136/Jmg.38.9.638 |
0.417 |
|
| 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 |
0.487 |
|
| 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 |
0.46 |
|
| 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 |
0.354 |
|
| 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 |
0.502 |
|
| 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 |
0.517 |
|
| 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 |
0.392 |
|
| 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 |
0.305 |
|
| 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 |
0.321 |
|
| 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 |
0.563 |
|
| 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 |
0.395 |
|
| 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 |
0.427 |
|
| 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 |
0.32 |
|
| 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 |
0.645 |
|
| 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 |
0.412 |
|
| 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 |
0.386 |
|
| 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 |
0.496 |
|
| 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 |
0.698 |
|
| 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 |
0.511 |
|
| 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 |
0.345 |
|
| 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 |
0.418 |
|
| 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 |
0.336 |
|
| 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 |
0.368 |
|
| 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 |
0.432 |
|
| 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 |
0.316 |
|
| 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 |
0.491 |
|
| 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 |
0.331 |
|
| 2000 |
Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proceedings of the National Academy of Sciences of the United States of America. 97: 268-73. PMID 10618407 DOI: 10.1073/Pnas.97.1.268 |
0.457 |
|
| 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 |
0.545 |
|
| 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 |
0.465 |
|
| 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 |
0.318 |
|
| 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 |
0.333 |
|
| 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 |
0.381 |
|
| 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 |
0.383 |
|
| 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 |
0.332 |
|
| 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-# |
0.37 |
|
| 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 |
0.334 |
|
| 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 |
0.756 |
|
| 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 |
0.395 |
|
| 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 |
0.358 |
|
| 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 |
0.452 |
|
| 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 |
0.414 |
|
| 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 |
0.367 |
|
| 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 |
0.334 |
|
| 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 |
0.327 |
|
| 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 |
0.402 |
|
| 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 |
0.357 |
|
| 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 |
0.44 |
|
| 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 |
0.485 |
|
| 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 |
0.415 |
|
| 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 |
0.451 |
|
| 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 |
0.429 |
|
| 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 |
0.363 |
|
| 1998 |
Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. American Journal of Medical Genetics. 75: 265-72. PMID 9475595 DOI: 10.1002/(Sici)1096-8628(19980123)75:3<265::Aid-Ajmg8>3.0.Co;2-P |
0.473 |
|
| 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 |
0.53 |
|
| 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 |
0.388 |
|
| 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 |
0.393 |
|
| 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 |
0.362 |
|
| 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 |
0.461 |
|
| 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 |
0.443 |
|
| 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 |
0.351 |
|
| 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 |
0.335 |
|
| 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 |
0.487 |
|
| 1997 |
Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. American Journal of Medical Genetics. 66: 347-55. PMID 8985499 DOI: 10.1002/(Sici)1096-8628(19961218)66:3<347::Aid-Ajmg20>3.0.Co;2-L |
0.427 |
|
| 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 |
0.536 |
|
| 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 |
0.372 |
|
| 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 |
0.491 |
|
| 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 |
0.48 |
|
| 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 |
0.367 |
|
| 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 |
0.517 |
|
| 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 |
0.464 |
|
| 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 |
0.386 |
|
| 1995 |
Dow E, Cross S, Wolgemuth DJ, Lyonnet S, Mulligan LM, Mascari M, Ladda R, Williamson R. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred. American Journal of Medical Genetics. 53: 75-80. PMID 7802041 DOI: 10.1002/Ajmg.1320530116 |
0.412 |
|
| 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 |
0.416 |
|
| 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 |
0.332 |
|
| 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 |
0.417 |
|
| 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 |
0.442 |
|
| 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 |
0.49 |
|
| 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 |
0.384 |
|
| 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 |
0.395 |
|
| 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 |
0.408 |
|
| 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 |
0.339 |
|
| 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 |
0.408 |
|
| 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 |
0.461 |
|
| 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 |
0.412 |
|
| 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 |
0.414 |
|
| 1994 |
Fournier B, Saudubray JM, Benichou B, Lyonnet S, Munnich A, Clevers H, Poll-The BT. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. The Journal of Clinical Investigation. 94: 526-31. PMID 8040306 DOI: 10.1172/Jci117365 |
0.375 |
|
| 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 |
0.398 |
|
| 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 |
0.301 |
|
| 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 |
0.407 |
|
| 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 |
0.314 |
|
| 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 |
0.405 |
|
| 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 |
0.387 |
|
| 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 |
0.396 |
|
| 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 |
0.452 |
|
| 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 |
0.38 |
|
| 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 |
0.324 |
|
| 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 |
0.365 |
|
| 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 |
0.449 |
|
| 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 |
0.449 |
|
| 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 |
0.461 |
|
| 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 |
0.376 |
|
| 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 |
0.379 |
|
| 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 |
0.36 |
|
| 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 |
0.465 |
|
| 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 |
0.392 |
|
| 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 |
0.444 |
|
| 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 |
0.445 |
|
| 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 |
0.379 |
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