Jordan Lerner‐Ellis

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Adam Shlien, Brittany Campbell, Richard de Borja et al. · Nature Genetics · 2015 · 381 citations · Full text

Life Sciences, Genetics, Oncology +14

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Jordan Lerner‐Ellis, Jamie C. Tirone, Peter D. Pawelek et al. · Nature Genetics · 2005 · 376 citations

Life Sciences, Genetics, Molecular Genetics +7

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

Doua Bakry, Melyssa Aronson, Carol Durno et al. · European Journal of Cancer · 2014 · 235 citations

Life Sciences, Genetics, Molecular Genetics +16

Spectrum of mutations in<i>MMACHC</i>, allelic expression, and evidence for genotypeâphenotype correlations

Jordan Lerner‐Ellis, Natascia Anastasio, Junhui Liu et al. · Human Mutation · 2009 · 214 citations

Life Sciences, Genetics, Molecular Genetics +17

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17