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Human Mutation|September 17, 2011
Genotype-phenotype correlation in primary carnitine deficiencyEmily C Rose, Cristina Amat di San Filippo, Uzochi C Ndukwe Erlingsson, et al.
Human Mutation|September 17, 2011
SpliceAid 2: a database of human splicing factors expression data and RNA target motifsFrancesco Piva, Matteo Giulietti, Alessandra Ballone Burini, et al.
Human Mutation|September 17, 2011
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasiaMarine R-C Kraus, Séverine Clauin, Yvan Pfister, et al.
Human Mutation|September 17, 2011
Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangementsMarion Phylipsen, Attawut Chaibunruang, Ingrid P Vogelaar, et al.
Human Mutation|September 8, 2011
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPsRonen Levy, Vladimir Sobolev, Marvin Edelman
Human Mutation|September 8, 2011
Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE studyJennifer D Brooks, Sharon N Teraoka, Anne S Reiner, et al.
Human Mutation|September 16, 2011
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumoursKyriaki S Alatzoglou, Cynthia L Andoniadou, Daniel Kelberman, et al.
Human Mutation|October 6, 2011
Germline gain-of-function mutations of ALK disrupt central nervous system developmentLoïc de Pontual, Dania Kettaneh, Christopher T Gordon, et al.
Human Mutation|October 6, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Human Mutation|October 19, 2011
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasiaKotoka Nakamura, Liutao Du, Rashmi Tunuguntla, et al.
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