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 · 767 citations · Full text

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 · 551 citations · Full text

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 · 505 citations · Full text

Knockout Mouse, Genetic Disorder, Natural Sciences +8

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 · 501 citations · Full text

Hemidesmosome Formation, Developmental Biology, Alpha 6 +14

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 · 441 citations · Full text

Lineage Plasticity, Tissue Development, Neurologic Degeneration +6