A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility

Annegien Broeks, Jos Urbanus, Arno Floore et al. · The American Journal of Human Genetics · 2000 · 240 citations · Full text

Breast Oncology, Breast Cancer–susceptibility, Genetics +5

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.

S. S. Raghavan, J Topol, Edwin H. Kolodny · PubMed · 1980 · 124 citations

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease

Nahid Tayebi, Barbara Stubblefield, Joseph K. Park et al. · The American Journal of Human Genetics · 2003 · 115 citations · Full text

Gaucher Disease, Genetics, Nonreciprocal Recombination +10

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations

Soo‐Kyung Choi, Song‐Ro Yoon, Peter Calabrese et al. · Proceedings of the National Academy of Sciences · 2008 · 88 citations · Full text

Genetics, Molecular Genetics, Germline Genetics +17

A mutation in SCARB2 is a modifier in gaucher disease

Arash Velayati, John DePaolo, Nidhi Gupta et al. · Human Mutation · 2011 · 78 citations · Full text

Mendelian Disorder, Gaucher Disease, Lysosomal Targeting +14