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Clinical Dysmorphology|February 26, 2015
A novel KIF7 mutation in two affected siblings with acrocallosal syndromeKadri Karaer, Zafer Yuksel, Amale Ichkou, et al.Birth Defects Research|January 10, 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1Séverine Bacrot, Charlotte Mechler, Naima Talhi, et al.Acta Neuropathologica Communications|February 21, 2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medullaAude Tessier, Nathalie Roux, Lucile Boutaud, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|December 15, 2015
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformationCaroline Alby, Valérie Malan, Lucile Boutaud, et al.Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.Pageof 1