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Human Mutation|November 28, 2008
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relativesPaal Skytt Andersen, Ole Havndrup, Lotte Hougs, et al.
Human Mutation|November 21, 2008
A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis softwareSophia Zaimidou, Sjozef van Baal, Timothy D Smith, et al.
Human Mutation|November 22, 2008
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencingChristel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.
Human Mutation|June 5, 2007
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signalingKaori Sudo, Hidenori Ito, Ikuko Iwamoto, et al.
Human Mutation|June 8, 2007
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosisArtur V Cideciyan, Tomas S Aleman, Samuel G Jacobson, et al.
Human Mutation|May 9, 2007
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) geneFernanda R O Calderon, Amit R Phansalkar, David K Crockett, et al.
Human Mutation|May 12, 2007
Subtelomeric imbalances in phenotypically normal individualsIrina Balikova, Björn Menten, Thomy de Ravel, et al.
Human Mutation|January 30, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanismErich Roessler, Felicitas Lacbawan, Christèle Dubourg, et al.
Human Mutation|February 5, 2009
Systematic evaluation of the effect of common SNPs on pre-mRNA splicingAbdou ElSharawy, Bernd Hundrieser, Mario Brosch, et al.
Human Mutation|February 5, 2009
Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutantsHan-Tsang Wu, Yi-Ning Su, Chia-Cheng Hung, et al.
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