Differential Diagnosis between Pendred and Pseudo-Pendred Syndromes: Clinical, Radiologic, and Molecular Studies

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Lorraine A. Everett, Benjamin Gläser, John C. Beck et al. · Nature Genetics · 1997 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +4

The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 941 citations

Life Sciences, Genetics, Molecular Genetics +14

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The Pendred syndrome gene encodes a chloride-iodide transport protein

Daryl A. Scott, Rong Wang, Trisha Kreman et al. · Nature Genetics · 1999 · 567 citations

Life Sciences, Genetics, Molecular Genetics +10