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Human Mutation|February 11, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Byung Yoon Choi, Andrew K Stewart, Anne C Madeo, et al.
Human Mutation|January 30, 2009
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlationsRebecca L Margraf, David K Crockett, Patti M F Krautscheid, et al.
Human Mutation|January 30, 2009
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeatsBoi-Dinh Chung, Hülya Kayserili, Minrong Ai, et al.
Human Mutation|January 30, 2009
Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndromeMarietta E Kovacs, Janos Papp, Zoltan Szentirmay, et al.
Human Mutation|April 14, 2011
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interactionSusanne Thiele, Luisa de Sanctis, Ralf Werner, et al.
Human Mutation|March 25, 2011
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testingSamuel J Aronson, Eugene H Clark, Lawrence J Babb, et al.
Human Mutation|February 1, 2011
Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranesJ Des Parkin, James D San Antonio, Vadim Pedchenko, et al.
Human Mutation|February 1, 2011
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutationsPauline Krug, Vincent Morinière, Sandrine Marlin, et al.
Human Mutation|February 10, 2011
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?Mouna Messaoud Khelifi, Aliya Ishmukhametova, Philippe Khau Van Kien, et al.
Human Mutation|February 10, 2011
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defectsJared M Churko, Qing Shao, Xiang-qun Gong, et al.
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