Tamieka Whyte

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 385 citations · Full text

Public Health, Genetics, Molecular Genetics +17

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17

SGK196 Is a Glycosylation-Specific <i>O</i> -Mannose Kinase Required for Dystroglycan Function

Takako Yoshida‐Moriguchi, Tobias Willer, Mary E. Anderson et al. · Science · 2013 · 219 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Miriam Schmidts, Yuqing Hou, Claudio R. Cortés et al. · Nature Communications · 2015 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn et al. · The American Journal of Human Genetics · 2017 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14