Sophie Thomas - Publications

Affiliations: 
2005-2010 INSERM U781, Paris, France 

73 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Ghesh L, Denis Musquer M, Devisme L, Stichelbout M, Boutaud L, Elkhartoufi N, Vaast P, Boute O, Riteau AS, Le Vaillant C, Winer N, Joubert M, Bezieau S, Thomas S, Attie-Bitach T, et al. The first Two non-Finnish HYLS1 Variants: expanding the phenotypic spectrum of Hydrolethalus Syndrome. Clinical Genetics. PMID 34212369 DOI: 10.1111/cge.14021  1
2021 Malins S, Owen R, Wright I, Borrill H, Limond J, Gibson F, Grundy RG, Bailey S, Clifford SC, Lowis S, Lemon J, Hayes L, Thomas S. Acceptance and commitment therapy for young brain tumour survivors: study protocol for an acceptability and feasibility trial. Bmj Open. 11: e051091. PMID 34078638 DOI: 10.1136/bmjopen-2021-051091  0.01
2021 Jacola LM, Partanen M, Lemiere J, Hudson MM, Thomas S. Assessment and Monitoring of Neurocognitive Function in Pediatric Cancer. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. JCO2002444. PMID 33886364 DOI: 10.1200/JCO.20.02444  0.01
2021 Allen MT, Thompson BC, Atkinson B, Fyfe CE, Scanlan MJ, Stephen RE, Thomas SI, Welsh GN, Wrigley R, McLeay A, Beck S, Dockerty JD. Emergency Department presentations in the Southern District of New Zealand during the 2020 COVID-19 pandemic lockdown. Emergency Medicine Australasia : Ema. PMID 33586331 DOI: 10.1111/1742-6723.13749  0.01
2020 Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, ... ... Thomas S, et al. Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Clinical Genetics. PMID 32621347 DOI: 10.1111/Cge.13801  1
2020 Thomas SR, Bonsignore R, Escudero Sanchez J, Meier-Menches SM, Brown C, Wolf M, Barone G, Luk LY, Casini A. Exploring the chemoselectivity towards cysteine arylation by cyclometalated Au(III) compounds: new mechanistic insights. Chembiochem : a European Journal of Chemical Biology. PMID 32511840 DOI: 10.1002/Cbic.202000262  0.01
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, ... ... Thomas S, et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics. PMID 32413283 DOI: 10.1016/J.Ajhg.2020.04.010  1
2020 Thomas SR, Casini A. Gold compounds for catalysis and metal-mediated transformations in biological systems. Current Opinion in Chemical Biology. 55: 103-110. PMID 32086166 DOI: 10.1016/J.Cbpa.2019.12.007  0.01
2020 Bonsignore R, Thomas S, Klooster W, Coles S, Bourissou D, Jenkins R, Barone G, Casini A. Carbon-Phosphorus Coupling from C^N Cyclometalated Au(III) Complexes. Chemistry (Weinheim An Der Bergstrasse, Germany). PMID 31994237 DOI: 10.1002/Chem.201905392  0.01
2019 Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, ... ... Thomas S, et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet Journal of Rare Diseases. 14: 137. PMID 31196221 DOI: 10.1186/S13023-019-1074-9  0.01
2019 Thomas S, Boutaud L, Reilly ML, Benmerah A. Cilia in hereditary cerebral anomalies. Biology of the Cell. PMID 31177551 DOI: 10.1111/Boc.201900012  0.12
2019 Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, ... ... Thomas S, et al. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet Journal of Rare Diseases. 14: 118. PMID 31142378 DOI: 10.1186/s13023-019-1080-y  0.01
2019 Wenzel M, Bonsignore R, Thomas S, Bourissou D, Barone G, Casini A. Cyclometalated Au(III) Complexes for Cysteine Arylation in Zinc Finger Protein Domains: Towards Controlled Reductive Elimination. Chemistry (Weinheim An Der Bergstrasse, Germany). PMID 30990916 DOI: 10.1002/Chem.201901535  0.01
2019 Woods B, Wenzel MN, Williams T, Thomas SR, Jenkins RL, Casini A. -Functionalized Metallacages as Host-Guest Systems for the Anticancer Drug Cisplatin. Frontiers in Chemistry. 7: 68. PMID 30834242 DOI: 10.3389/Fchem.2019.00068  0.01
2019 Wenzel MN, Mósca AF, Graziani V, Aikman B, Thomas SR, de Almeida A, Platts JA, Re N, Coletti C, Marrone A, Soveral G, Casini A. Insights into the Mechanisms of Aquaporin-3 Inhibition by Gold(III) Complexes: the Importance of Non-Coordinative Adduct Formation. Inorganic Chemistry. PMID 30645101 DOI: 10.1021/Acs.Inorgchem.8B03233  0.01
2018 Putoux A, Baas D, Paschaki M, Morlé L, Maire C, Attié-Bitach T, Thomas S, Durand B. Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice. Human Molecular Genetics. PMID 30445565 DOI: 10.1093/Hmg/Ddy392  1
2018 Keetley R, Kelly L, Whitehouse WP, Thomas S, Bennett E, Chow G, Fletcher A, Williams J. Early discharge and rehabilitation in paediatric acquired brain and neurological injury: a transferable model. Archives of Disease in Childhood. Education and Practice Edition. PMID 30343269 DOI: 10.1136/archdischild-2018-315096  0.01
2018 Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. Human Molecular Genetics. PMID 29771326 DOI: 10.1093/Hmg/Ddy179  1
2018 Quélin C, Loget P, Boutaud L, Elkhartoufi N, Milon J, Odent S, Fradin M, Demurger F, Pasquier L, Thomas S, Attié-Bitach T. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. American Journal of Medical Genetics. Part A. PMID 29704304 DOI: 10.1002/Ajmg.A.38685  1
2018 Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, ... ... Thomas S, et al. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. American Journal of Medical Genetics. Part A. 176: 1091-1098. PMID 29681083 DOI: 10.1002/Ajmg.A.38684  1
2018 Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T. A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. Birth Defects Research. PMID 29356416 DOI: 10.1002/Bdr2.1204  1
2018 Bacrot S, Mechler C, Talhi N, Martin-Coignard D, Roth P, Michot C, Ichkou A, Alibeu O, Nitschke P, Thomas S, Vekemans M, Razavi F, Boutaud L, Attie-Bitach T. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. Birth Defects Research. PMID 29316359 DOI: 10.1002/Bdr2.1191  1
2017 Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, ... ... Thomas S, et al. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain : a Journal of Neurology. 140: 2597-2609. PMID 28969387 DOI: 10.1093/Brain/Awx218  1
2017 Boeva V, Louis-Brennetot C, Peltier A, Durand S, Pierre-Eugène C, Raynal V, Etchevers HC, Thomas S, Lermine A, Daudigeos-Dubus E, Geoerger B, Orth MF, Grünewald TGP, Diaz E, Ducos B, et al. Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. Nature Genetics. PMID 28740262 DOI: 10.1038/Ng.3921  1
2017 Laquerriere A, Maillard C, Cavallin M, Chapon F, Marguet F, Molin A, Sigaudy S, Blouet M, Benoist G, Fernandez C, Poirier K, Chelly J, Thomas S, Bahi-Buisson N. Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations. Journal of Neuropathology and Experimental Neurology. 76: 195-205. PMID 28395088 DOI: 10.1093/Jnen/Nlw124  1
2017 Maillard C, Cavallin M, Piquand K, Philbert M, Bault JP, Millischer AE, Moshous D, Rio M, Gitiaux C, Boddaert N, Masson C, Thomas S, Bahi-Buisson N. Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. American Journal of Medical Genetics. Part A. PMID 28168853 DOI: 10.1002/Ajmg.A.38061  1
2017 Attié-Bitach T, Thomas S, Vekemans M. Apport du séquençage haut débit dans la compréhension des formes sévères de ciliopathies Morphologie. 101: 252. DOI: 10.1016/J.Morpho.2017.07.031  1
2016 Thomas S, Vanlerberghe-Masutti F, Mistral P, Loiseau A, Boissot N. Insight into the durability of plant resistance to aphids from a demo-genetic study of Aphis gossypii in melon crops. Evolutionary Applications. 9: 756-68. PMID 27330552 DOI: 10.1111/eva.12382  0.01
2016 Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, et al. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. Plos Genetics. 12: e1005894. PMID 26967905 DOI: 10.1371/Journal.Pgen.1005894  1
2016 Boissot N, Thomas S, Chovelon V, Lecoq H. NBS-LRR-mediated resistance triggered by aphids: viruses do not adapt; aphids adapt via different mechanisms. Bmc Plant Biology. 16: 25. PMID 26801763 DOI: 10.1186/s12870-016-0708-5  0.01
2016 Plackett R, Thomas S, Thomas S. Professionals' views on the use of smartphone technology to support children and adolescents with memory impairment due to acquired brain injury. Disability and Rehabilitation. Assistive Technology. 1-8. PMID 26730647 DOI: 10.3109/17483107.2015.1127436  1
2016 Xu P, Thomas S, Dellinger A, Etchevers H, Vekemans M, Gilbert JR, Speer MC. Transcriptome analysis of genes involved in neural tube closure during human embryonic development using Long-SAGE F1000research. 5. DOI: 10.7490/F1000Research.1111340.1  1
2016 Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers H. Isolation and transcriptional profiling of embryonic human neural crest cells F1000research. 5. DOI: 10.7490/F1000Research.1111339.1  1
2015 Alby C, Malan V, Boutaud L, Marangoni MA, Bessières B, Bonniere M, Ichkou A, Elkhartoufi N, Bahi-Buisson N, Sonigo P, Millischer AE, Thomas S, Ville Y, Vekemans M, Encha-Razavi F, et al. Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 26663670 DOI: 10.1002/Bdra.23472  1
2015 Fay V, Thomas S, Slade P. Maternal-fetal medicine specialists' experiences of conducting feticide as part of termination of pregnancy: a qualitative study. Prenatal Diagnosis. PMID 26531671 DOI: 10.1002/pd.4720  1
2015 Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Journal of Medical Genetics. 52: 657-65. PMID 26275418 DOI: 10.1136/Jmedgenet-2014-102838  1
2015 Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, ... Thomas S, et al. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. American Journal of Human Genetics. 97: 311-8. PMID 26166481 DOI: 10.1016/J.Ajhg.2015.06.003  1
2015 Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, et al. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. The Journal of Cell Biology. 209: 129-42. PMID 25869670 DOI: 10.1083/Jcb.201411087  1
2015 Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. European Journal of Human Genetics : Ejhg. 23: 621-7. PMID 25138100 DOI: 10.1038/Ejhg.2014.156  1
2015 Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype Journal of Medical Genetics. DOI: 10.1136/jmedgenet-2014-102838  1
2015 Attie-Bitach T, Alby C, Boutaud L, Malan V, Bahi-Buisson N, Ichkou A, Ville Y, Bole-Feysot C, Nitschke P, Thomas S, Razavi F, Vekemans M. Du séquençage haut débit au phénotype : intérêt majeur de l’examen fœtopathologique dans l’exploration des anomalies du corps calleux Morphologie. 99: 165. DOI: 10.1016/J.Morpho.2015.09.036  1
2015 Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, Chehadeh-Djebbar SE, Laurent N, Faivre L, Sztriha L, Zombor M, ... ... Thomas S, et al. Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318)) American Journal of Human Genetics. 97: 1923. DOI: 10.1016/J.Ajhg.2015.07.011  1
2014 Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, et al. A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. Journal of the American Society of Nephrology : Jasn. 25: 2435-43. PMID 24876116 DOI: 10.1681/Asn.2013101126  1
2014 Mouton-Liger F, Sahún I, Collin T, Lopes Pereira P, Masini D, Thomas S, Paly E, Luilier S, Même S, Jouhault Q, Bennaï S, Beloeil JC, Bizot JC, Hérault Y, Dierssen M, et al. Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome. Neurobiology of Disease. 63: 92-106. PMID 24291518 DOI: 10.1016/J.Nbd.2013.11.016  0.01
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, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Human Mutation. 35: 137-46. PMID 24166846 DOI: 10.1002/Humu.22470  1
2013 Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics : Ejhg. 21: 1074-8. PMID 23386033 DOI: 10.1038/Ejhg.2012.305  1
2013 Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, et al. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clinical Genetics. 84: 86-90. PMID 23036093 DOI: 10.1111/Cge.12013  1
2012 Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, et al. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics. 49: 713-20. PMID 23125460 DOI: 10.1136/Jmedgenet-2012-101016  1
2012 McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature Medicine. 18: 1423-8. PMID 22941275 DOI: 10.1038/Nm.2860  1
2012 Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, et al. TCTN3 mutations cause Mohr-Majewski syndrome. American Journal of Human Genetics. 91: 372-8. PMID 22883145 DOI: 10.1016/J.Ajhg.2012.06.017  1
2012 Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG. Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). Birth Defects Research. Part a, Clinical and Molecular Teratology. 94: 683-92. PMID 22806986 DOI: 10.1002/Bdra.23040  1
2012 Thomas S, Boissot N, Vanlerberghe-Masutti F. What do spring migrants reveal about sex and host selection in the melon aphid? Bmc Evolutionary Biology. 12: 47. PMID 22471629 DOI: 10.1186/1471-2148-12-47  0.01
2012 Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9. PMID 22282472 DOI: 10.1126/Science.1213506  1
2011 Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, et al. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. Journal of Medical Genetics. 48: 825-30. PMID 22051515 DOI: 10.1136/Jmedgenet-2011-100255  1
2011 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, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics. 43: 601-6. PMID 21552264 DOI: 10.1038/Ng.826  1
2011 Mouton-Liger F, Thomas S, Rattenbach R, Magnol L, Larigaldie V, Ledru A, Herault Y, Verney C, Créau N. PCP4 (PEP19) overexpression induces premature neuronal differentiation associated with Ca(2+) /calmodulin-dependent kinase II-δ activation in mouse models of Down syndrome. The Journal of Comparative Neurology. 519: 2779-802. PMID 21491429 DOI: 10.1002/cne.22651  0.01
2010 Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmeijer A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, et al. BBS10 mutations are common in 'Meckel'-type cystic kidneys. Journal of Medical Genetics. 47: 848-52. PMID 20805367 DOI: 10.1136/Jmg.2010.079392  1
2010 Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, et al. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Human Mutation. 31: 1134-41. PMID 20690116 DOI: 10.1002/Humu.21329  1
2010 Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, Van Haeringen A, Mortier G, Nampoothiri S, Pušeljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a sotos-like or a Marshall-Smith Syndrome American Journal of Human Genetics. 87: 189-198. PMID 20673863 DOI: 10.1016/J.Ajhg.2010.07.001  1
2010 Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, ... ... Thomas S, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42: 619-25. PMID 20512146 DOI: 10.1038/Ng.594  1
2010 Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation. 31: E1319-31. PMID 20232449 DOI: 10.1002/Humu.21239  1
2010 Boissot N, Thomas S, Sauvion N, Marchal C, Pavis C, Dogimont C. Mapping and validation of QTLs for resistance to aphids and whiteflies in melon. Tag. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik. 121: 9-20. PMID 20180095 DOI: 10.1007/s00122-010-1287-8  0.01
2010 Parisot P, Bajolle F, Attié-Bittach T, Thomas S, Goudefroye G, Abadie V, Lyonnet S, Bonnet D. 321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations Archives of Cardiovascular Diseases Supplements. 2: 104-105. DOI: 10.1016/S1878-6480(10)70323-2  1
2009 Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Human Mutation. 30: 1574-82. PMID 19777577 DOI: 10.1002/Humu.21116  1
2009 de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proceedings of the National Academy of Sciences of the United States of America. 106: 13921-6. PMID 19666486 DOI: 10.1073/Pnas.0901219106  1
2009 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, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics. 41: 359-64. PMID 19234473 DOI: 10.1038/Ng.329  1
2008 Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers HC. Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Human Molecular Genetics. 17: 3411-25. PMID 18689800 DOI: 10.1093/Hmg/Ddn235  1
2007 de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. European Journal of Cancer (Oxford, England : 1990). 43: 2366-72. PMID 17765533 DOI: 10.1016/J.Ejca.2007.07.016  1
2007 Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. American Journal of Human Genetics. 80: 1179-87. PMID 17503335 DOI: 10.1086/518177  1
2007 Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, et al. Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. Journal of Medical Genetics. 44: 537-40. PMID 17468296 DOI: 10.1136/Jmg.2006.048736  1
2006 Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N, Vekemans M, Attié-Bitach T, Etchevers HC. Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenatal Diagnosis. 26: 1201-5. PMID 17075794 DOI: 10.1002/Pd.1588  1
2003 Thiery E, Thomas S, Vacher S, Delezoide A-, Delabar JM, Créau N. Chromosome 21 KIR channels in brain development. Journal of Neural Transmission-Supplement. 105-15. PMID 15068243 DOI: 10.1007/978-3-7091-6721-2_9  0.12
2003 Thomas S, Thiery E, Aflalo R, Vayssettes C, Verney C, Berthuy I, Créau N. PCP4 is highly expressed in ectoderm and particularly in neuroectoderm derivatives during mouse embryogenesis. Gene Expression Patterns : Gep. 3: 93-7. PMID 12609609 DOI: 10.1016/S1567-133X(02)00100-X  0.01
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