Ki Pang

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

Alexandre Bolze, Minji Byun, David McDonald et al. · The American Journal of Human Genetics · 2010 · 184 citations · Full text

Human Fadd Deficiency, Functional Genomics, Mendelian Disorder +7

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Ghayda Mirzaa, David Parry, Andrew E. Fry et al. · Nature Genetics · 2014 · 148 citations · Full text

Disease Mechanism, Genetic Disorder, Pathogenesis +5

Recovery of mouse neuromuscular junctions from single and repeated injections of botulinum neurotoxin A

Alexander Rogozhin, Ki Pang, É. A. Bukharaeva et al. · The Journal of Physiology · 2008 · 117 citations · Full text

Synaptic Transmission, Neurotransmission, Peripheral Nerve +19

Loss-of-function mutations in<i>ISCA2</i>disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

Joseph T. Alaimo, Arnaud Besse, Charlotte L. Alston et al. · Human Mutation · 2018 · 27 citations · Full text

Mtdna Depletion, Engineering, Genetics +24