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Human Mutation|November 19, 2009
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseasesAnne Friedrich, Nicolas Garnier, Nicolas Gagnière, et al.
The EMBO Journal|July 25, 2020
Spatial control of nucleoporin condensation by fragile X-related proteinsArantxa Agote-Aran, Stephane Schmucker, Katerina Jerabkova, et al.
Human Molecular Genetics|February 25, 2010
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophyStéphane Fourcade, Montserrat Ruiz, Cristina Guilera, et al.
Acta Neuropathologica|October 8, 2010
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathiesAnne Toussaint, Belinda Simone Cowling, Karim Hnia, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effectMireille Cossée, Bénédicte Demeer, Patricia Blanchet, et al.
European Journal of Human Genetics : EJHG|July 11, 2006
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie Laurier, Corinne Stoetzel, Jean Muller, et al.
Human Molecular Genetics|April 25, 2008
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasisAnna Buj-Bello, Françoise Fougerousse, Yannick Schwab, et al.
Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.
Nature Genetics|March 8, 2011
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisBertrand Isidor, Pierre Lindenbaum, Olivier Pichon, et al.
Diabetes Care|September 18, 2013
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencingAmélie Bonnefond, Julien Philippe, Emmanuelle Durand, et al.
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