Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man

Uwe Kornak, Dagmar Kasper, Michael R. Bösl et al. · Cell · 2001 · 989 citations

Natural Sciences, Cell Biology, Molecular Genetics +17

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski · Cell · 2007 · 907 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Mechanisms for human genomic rearrangements

Wenli Gu, Feng Zhang, James R. Lupski · PathoGenetics · 2008 · 719 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Copy number variation detection and genotyping from exome sequence data

Niklas Krumm, Peter H. Sudmant, Arthur Ko et al. · Genome Research · 2012 · 676 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Annalisa Frattini, Paul J. Orchard, Cristina Sobacchi et al. · Nature Genetics · 2000 · 676 citations

Life Sciences, Genetics, Molecular Genetics +6