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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
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, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. Mougou-Zerelli S, et al. Among authors: thomas s. Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. Hum Mutat. 2009. PMID: 19777577 Free PMC article.
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
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, Vekemans M, Bouvier R, Attie-Bitach T. Putoux A, et al. Among authors: thomas s. J Med Genet. 2010 Dec;47(12):848-52. doi: 10.1136/jmg.2010.079392. Epub 2010 Aug 30. J Med Genet. 2010. PMID: 20805367
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
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, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Putoux A, et al. Among authors: thomas s. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. J Med Genet. 2012. PMID: 23125460
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
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, Attié-Bitach T. Thomas S, et al. Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138100 Free PMC article.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
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, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S. Alby C, et al. Among authors: thomas s. Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166481 Free PMC article.
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
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, Lifton RP, Lawson JA, Garfa-Traore M, Otto EA, Bastin P, Caillaud C, Kaplan J, Rozet JM, Hildebrandt F. Perrault I, et al. Among authors: thomas s. J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14. J Med Genet. 2015. PMID: 26275418 Free PMC article.
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
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, Attié-Bitach T. Alby C, et al. Among authors: thomas s. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):36-46. doi: 10.1002/bdra.23472. Epub 2015 Dec 14. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663670
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
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, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N. Cavallin M, et al. Among authors: thomas s. Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218. Brain. 2017. PMID: 28969387
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