Kara L. Levine

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

Qing Shao, Kristin Lindstrom, Ruo‐Yang Shi et al. · Journal of Biological Chemistry · 2016 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Elisabetta Flex, Marcello Niceta, Serena Cecchetti et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

Wei Shen, Jennifer Heeley, Colleen M. Carlston et al. · American Journal of Medical Genetics Part A · 2017 · 49 citations

Life Sciences, Genetics, Molecular Genetics +16

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability

Chi-Ting Su, Jenq‐Wen Huang, Chih‐Kang Chiang et al. · Human Molecular Genetics · 2015 · 37 citations · Full text

Life Sciences, Biochemistry, Cell Biology +14