Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.7K citations · Full text

Single Nucleotide Polymorphism, Genetics, Genetic Epidemiology +20

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 · 6.6K citations

Protein Function, Functional Genomics, Non-synonymous Variants +13

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Complex Mutations, Genetics, Genetic Epidemiology +20

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Jouni Vesa, Elina Hellsten, Linda A. Verkruyse et al. · Nature · 1995 · 737 citations

Developmental Biology, Molecular Neuroscience, Medicine +3

Isolation of a novel gene underlying batten disease, CLN3

Terry J. Lerner, Rose‐Mary Boustany, John W. Anderson et al. · Cell · 1995 · 598 citations · Full text

Batten Disease, Genetic Disorder, Genetics +5