Journal of Medical Genetics

Journal Abbreviation: J MED GENET
ISSN: 0022-2593
eISSN: 1468-6244
Publisher: BMJ Publishing Group

Publications (20)

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Unpublished / Preprint

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Abstract

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing (2016) Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, et al. Journal article Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (2016) Mignot C, Von Stuelpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, et al. Journal article PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS (2016) Southey MC, Goldgar DE, Winqvist R, Pylkas K, Couch F, Tischkowitz M, Foulkes WD, et al. Journal article Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum (2016) Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, et al. Journal article Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development (2015) Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, et al. Journal article Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 (2014) Boehm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, et al. Journal article The clinical significance of small copy number variants in neurodevelopmental disorders (2014) Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, et al. Journal article Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia (2011) Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A Journal article Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon (2011) Pacho F, Zambruno G, Calabresi V, Kiritsi D, Schneider H Journal article