Kristin McDonald Gibson

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 276 citations

Medicine, Genetics, Molecular Biology +7

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

Eric J. Horstick, Jeremy W. Linsley, James J. Dowling et al. · Nature Communications · 2013 · 259 citations · Full text

Life Sciences, Molecular Biology, Physiology +9

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala et al. · Genetics in Medicine · 2016 · 248 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara Skraban, Constance Wells, Preetha Markose et al. · The American Journal of Human Genetics · 2017 · 92 citations

Life Sciences, Neurology, Neuroscience +12

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Kristin McDonald Gibson, Addie I. Nesbitt, Kajia Cao et al. · Genetics in Medicine · 2017 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14