Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

Life Sciences, Bioinformatics, Molecular Biology +15

Xeroderma Pigmentosum Group F Caused by a Defect in a Structure-Specific DNA Repair Endonuclease

Anneke M. Sijbers, Wouter de Laat, Rafael R. Ariza et al. · Cell · 1996 · 544 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Massimo Bogliolo, Beatrice Schuster, Chantal Stoepker et al. · The American Journal of Human Genetics · 2013 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake et al. · Nature Genetics · 2012 · 212 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz et al. · The American Journal of Human Genetics · 2013 · 205 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11