James J. Dowling

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Clement Y. Chow, Yanling Zhang, James J. Dowling et al. · Nature · 2007 · 511 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival.

James J. Dowling, Q C Yu, Elaine Fuchs · The Journal of Cell Biology · 1996 · 502 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +13

Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

Lifei Guo, Linda Degenstein, James J. Dowling et al. · Cell · 1995 · 442 citations · Full text

Life Sciences, Cell Biology, Genetics +15