Concepedia

Laura Russell

LR

Statistics

Publications

26

Citations

1.9K

H-Index

21

Active since

1981

Affiliations

McGill University(Current)

McGill University Health Centre

Montreal Children's Hospital

National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institutes of Health

Laura Russell is an author at McGill University specializing in genetics, molecular genetics, and human genetics.

Publications per year

1981–2020

26

Publications

26

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby et al. · The American Journal of Human Genetics · 2002 · 373 citations · Full text

, , +12

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

Laura Russell, John J. DiGiovanna, Geraldine R. Rogers et al. · Nature Genetics · 1995 · 362 citations

, , +11

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

, , +16

The Axial Mesodermal Dysplasia Spectrum

Laura Russell, David D. Weaver, Marilyn J. Bull · PEDIATRICS · 1981 · 139 citations

, , +10

Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.

Laura Russell, John J. DiGiovanna, Nemat Hashem et al. · PubMed · 1994 · 99 citations

, , +12

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