Paul J. Lockhart

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 734 citations · Full text

Developmental Biology, Developmental Genetics, Genetics +8

Isolation of a partial candidate gene for Menkes disease by positional cloning

Julian F. B. Mercer, Janie Livingston, Bryan Hall et al. · Nature Genetics · 1993 · 696 citations

Mendelian Disorder, Menkes Disease, Genetic Disorder +11

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.

Michael J. Petris, J. F. B. Mercer, Janetta G. Culvenor et al. · The EMBO Journal · 1996 · 638 citations · Full text

Protein Secretion, Ligand-regulated Transport, Signal Transduction +14

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

Parkin Protects against the Toxicity Associated with Mutant α-Synuclein

Leonard Petrucelli, Casey O’Farrell, Paul J. Lockhart et al. · Neuron · 2002 · 551 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Synaptic Signaling +8