Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Heng Li, Jue Ruan, Richard Durbin · Genome Research · 2008 · 2.7K citations · Full text

Life Sciences, Bioinformatics, Biology +17

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Tom Walsh, Ming K. Lee, Silvia Casadei et al. · Proceedings of the National Academy of Sciences · 2010 · 491 citations

Life Sciences, Genetics, Oncology +17

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

Tom Walsh, Hashem Shahin, T. Elkan Miller et al. · The American Journal of Human Genetics · 2010 · 288 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical and biochemical spectrum of D‐bifunctional protein deficiency

Sacha Ferdinandusse, Simone Denis, P. A. W. Mooyer et al. · Annals of Neurology · 2005 · 195 citations

Life Sciences, Biochemistry, Pediatrics +17

Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis

E.G. van Grunsven, E. van Berkel, Petra A.W. Mooijer et al. · The American Journal of Human Genetics · 1999 · 107 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16