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American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
Brain : a Journal of Neurology|September 14, 2013
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelAndrea H Németh, Alexandra C Kwasniewska, Stefano Lise, et al.
Human Molecular Genetics|January 11, 2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali, Paul T Christie, Irina V Grigorieva, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
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