Ganka V. Douglas

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

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Majid Alfadhel, Marwan Nashabat, Hanan Al Qahtani et al. · Human Genetics · 2016 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic approaches to apparent homozygosity

Megan Landsverk, Ganka V. Douglas, Sha Tang et al. · Genetics in Medicine · 2012 · 39 citations

Life Sciences, Genetics, Molecular Genetics +8

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Ganka V. Douglas, Joanna Wiszniewska, Mark Lipson et al. · Journal of Human Genetics · 2011 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13