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Human Mutation|April 27, 2011
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutationFabian Schmid, Esther Glaus, Daniel Barthelmes, et al.
Human Mutation|April 27, 2011
ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resourceSujata Sinha, Michael L Black, Sarita Agarwal, et al.
Human Mutation|April 27, 2011
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patientsMónica Cozar, Roser Urreizti, Laura Vilarinho, et al.
Human Mutation|April 27, 2011
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictionsXiaoming Liu, Xueqiu Jian, Eric Boerwinkle
Human Mutation|May 28, 2011
Avoidance of pseudogene interference in the detection of 3' deletions in PMS2Cecily P Vaughn, Kimberly J Hart, Wade S Samowitz, et al.
Human Mutation|June 18, 2011
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited diseaseAndreas Wolf, Amke Caliebe, Nick S T Thomas, et al.
Human Mutation|June 18, 2011
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese familyKe Yao, Wei Wang, Yanan Zhu, et al.
Human Mutation|May 12, 2011
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexesRui Liu, Hannemieke D W van der Lei, Xuemin Wang, et al.
Human Mutation|December 16, 2014
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndromeSéverine Bacrot, Mathilde Doyard, Céline Huber, et al.
Human Mutation|December 16, 2014
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disabilityLars Björn Riecken, Hasan Tawamie, Carsten Dornblut, et al.
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