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Ganka V Douglas

Explore the profile of Ganka V Douglas including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 6
Citations 111
Followers 0
Related Specialties
Genetics
Neurology
Pediatrics
Top 10 Co-Authors
Lee-Jun C Wong
Wei Shen
Charlotte A Haaxma
Majid Alfadhel
Holly A Dubbs
Kenneth A Myers
Willy M Nillesen
Antonella Sferra
Marwan Nashabat
Stefan T Arold
Published In
J Hum Genet
Am J Hum Genet
Genet Med
Am J Med Genet A
Hum Genet
Affiliations
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Recent Articles
1.
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Steele J, Morrow M, Sarnat H, Alkhunaizi E, Brandt T, Chitayat D, et al.
Pediatr Neurol . 2021 Nov; 126:65-73. PMID: 34740135
Background: Semaphorins and plexins are ligands and cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth and guidance. PLXNA3 is a plexin gene located on the X...
2.
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies
Shen W, Heeley J, Carlston C, Acuna-Hidalgo R, Nillesen W, Dent K, et al.
Am J Med Genet A . 2017 Sep; 173(11):3022-3028. PMID: 28941052
De novo, germline variants in DNMT3A cause Tatton-Brown-Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic DNMT3A variants frequently occur in hematologic malignances,...
3.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Flex E, Niceta M, Cecchetti S, Thiffault I, Au M, Capuano A, et al.
Am J Hum Genet . 2016 Sep; 99(4):962-973. PMID: 27666370
Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated...
4.
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
Alfadhel M, Nashabat M, Qahtani H, Alfares A, Al Mutairi F, Al Shaalan H, et al.
Hum Genet . 2016 Aug; 135(11):1263-1268. PMID: 27481395
Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known...
5.
Diagnostic approaches to apparent homozygosity
Landsverk M, Douglas G, Tang S, Zhang V, Wang G, Wang J, et al.
Genet Med . 2012 May; 14(10):877-82. PMID: 22595940
Purpose: Sanger sequencing is a mainstay for the identification of gene mutations used in molecular diagnostic laboratories. However, in autosomal recessive disorders, failure of allele amplification can occur for a...
6.
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
Douglas G, Wiszniewska J, Lipson M, Witt D, McDowell T, Sifry-Platt M, et al.
J Hum Genet . 2011 Oct; 56(12):834-9. PMID: 22011815
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a heterogeneous group of disorders characterized by a reduction in the mtDNA copy number. We identified two patients with clinical presentations consistent with mtDNA...