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Molecular Psychiatry|November 29, 2023
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndromeJérémie Courraud, Camille Engel, Angélique Quartier, et al.European Journal of Human Genetics : EJHG|October 25, 2012
Dynamin 2 homozygous mutation in humans with a lethal congenital syndromeOlga S Koutsopoulos, Christine Kretz, Claudia M Weller, et al.Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.European Journal of Human Genetics : EJHG|October 31, 2013
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionAmélie Piton, Hélène Poquet, Claire Redin, et al.European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.American Journal of Medical Genetics. Part A|June 4, 2016
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndromeAlice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, et al.European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.American Journal of Human Genetics|January 17, 2003
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin, W Ted Brown, Anne Glicksman, et al.American Journal of Human Genetics|March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyClotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.Proceedings of the National Academy of Sciences of the United States of America|October 29, 2017
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagyMeghna Kannan, Efil Bayam, Christel Wagner, et al.Pageof 21