Concepedia

Leah W. Burke

LW

Statistics

Publications

14

Citations

804

H-Index

13

Active since

1995

Affiliations

University of Washington(Current)

University of Vermont Medical Center

University of Vermont

University of Minnesota

Dartmouth–Hitchcock Medical Center

Leah W. Burke is an author at University of Washington specializing in medical genetics, genetics, and human genetics.

Publications per year

1995–2021

14

Publications

14

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

, , +17

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes et al. · Genetics in Medicine · 2018 · 93 citations · Full text

, , +11

Kabuki Syndrome: Underdiagnosed Recognizable Pattern in Cleft Palate Patients

Leah W. Burke, Marilyn C. Jones · The Cleft Palate-Craniofacial Journal · 1995 · 76 citations

, , +14

Transcriptional repression by the orphan steroid receptor RVR/Rev-erb beta is dependent on the signature motif and helix 5 in the E region: functional evidence for a biological role of RVR in myogenesis

Leah W. Burke · Nucleic Acids Research · 1996 · 72 citations · Full text

, , +17

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Elke Botzenhart, Andrew Green, Helena G. Ilyina et al. · Human Mutation · 2005 · 69 citations

, , +13

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