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Human Mutation|August 10, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsGijs W E Santen, Emmelien Aten, Anneke T Vulto-van Silfhout, et al.
Human Mutation|August 15, 2013
Ferroportin diseases: functional studies, a link between genetic and clinical phenotypeLénaïck Détivaud, Marie-Laure Island, Anne-Marie Jouanolle, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Human Mutation|September 4, 2013
UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor geneNaomi C Wake, Christopher J Ricketts, Mark R Morris, et al.
Human Mutation|September 4, 2013
Small insertions are more deleterious than small deletions in human genomesShengfeng Huang, Jie Li, Anlong Xu, et al.
Human Mutation|October 12, 2013
Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translationNaresh R Thumati, Xi-Lei Zeng, Hilda H T Au, et al.
Human Mutation|August 6, 2013
In vitro secretion deficits are common among human coagulation factor XIII subunit B missense mutants: correlations with patient phenotypes and molecular modelsArijit Biswas, Anne Thomas, Carville G Bevans, et al.
Human Mutation|August 6, 2013
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experienceAudrey Sabbagh, Eric Pasmant, Apolline Imbard, et al.
Human Mutation|October 11, 2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaSarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, et al.
Human Mutation|March 19, 2013
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharingAnnet Sollie, Rolf H Sijmons, Dick Lindhout, et al.
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