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European Journal of Human Genetics : EJHG|February 3, 2019
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)Aline Chassagne, Aurore Pélissier, Françoise Houdayer, et al.Human Mutation|September 25, 2009
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationSoumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, et al.Journal of Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.American Journal of Human Genetics|November 4, 2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and MiceLara De Tomasi, Pierre David, Camille Humbert, et al.The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.Pageof 6