Kirk J. Hogan

Lamin B1 duplications cause autosomal dominant leukodystrophy

Quasar Saleem Padiath, Kazumasa Saigoh, Raphael Schiffmann et al. · Nature Genetics · 2006 · 399 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

A calcium channel mutation causing hypokalemic periodic paralysis

K Jurkat-Rott, Frank Lehmann‐Horn, Alexis Elbaz et al. · Human Molecular Genetics · 1994 · 314 citations

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 268 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +8

Pharmacogenetic determinants of interindividual variability in bupropion hydroxylation by cytochrome P450 2B6 in human liver microsomes

Leah M. Hesse, Ping He, Soundararajan Krishnaswamy et al. · Pharmacogenetics · 2004 · 190 citations

Genetics, Human Polymorphism, Metabolomic Profiling +16

Adverse Effect of Nitrous Oxide in a Child with 5,10-Methylenetetrahydrofolate Reductase Deficiency

Rebecca R. Selzer, David S. Rosenblatt, Renata Laxová et al. · New England Journal of Medicine · 2003 · 188 citations

Redox Biology, Oxidative Stress, Reactive Nitrogen Specie +16