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European Journal of Human Genetics : EJHG|July 18, 2013
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferaseIdan Cohen, Eldad Silberstein, Yonatan Perez, et al.
European Journal of Human Genetics : EJHG|July 18, 2013
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous familyYeşerin Yıldırım, Metin Kerem, Çiğdem Köroğlu, et al.
European Journal of Human Genetics : EJHG|December 6, 2012
Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensionsNajaf Amin, Jouke-Jan Hottenga, Narelle K Hansell, et al.
European Journal of Human Genetics : EJHG|December 6, 2012
Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalitiesFrancesco Fiorentino, Stefania Napoletano, Fiorina Caiazzo, et al.
European Journal of Human Genetics : EJHG|December 6, 2012
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer familiesGorka Ruiz de Garibay, Avellaneda Díaz, Belén Gaviña, et al.
European Journal of Human Genetics : EJHG|January 31, 2013
Inference of identity by descent in population isolates and optimal sequencing studiesDominik Glodzik, Pau Navarro, Veronique Vitart, et al.
European Journal of Human Genetics : EJHG|January 31, 2013
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder eventsStefan Aretz, Rossella Tricarico, Laura Papi, et al.
European Journal of Human Genetics : EJHG|January 31, 2013
Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndromeJean-Baptiste Le Pichon, Shihui Yu, Nataliya Kibiryeva, et al.
European Journal of Human Genetics : EJHG|January 24, 2013
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genesAurélie Vasson, Céline Leroux, Lucie Orhant, et al.
European Journal of Human Genetics : EJHG|January 24, 2013
Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talkKelly A McClellan, Erika Kleiderman, Lee Black, et al.
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