Allyn McConkie‐Rosell

Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius et al. · Nature · 1988 · 670 citations

Medicine, Molecular Biology, Molecular Genetics +14

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Vandana Shashi, Allyn McConkie‐Rosell, Bruce Rosell et al. · Genetics in Medicine · 2013 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Oncogenic Point Mutations in the Human Retinoblastoma Gene: Their Application to Genetic Counseling

David W. Yandell, T Campbell, Siri H. Dayton et al. · New England Journal of Medicine · 1989 · 279 citations

Life Sciences, Genetics, Oncology +16

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

Allyn McConkie‐Rosell, Ave M. Lachiewicz, Gail A. Spiridigliozzi et al. · PubMed · 1993 · 169 citations

Life Sciences, Genetics, Molecular Genetics +12