Colleen M Carlston
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Explore the profile of Colleen M Carlston including associated specialties, affiliations and a list of published articles.
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13
Citations
252
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Recent Articles
1.
Gudmundsson S, Carlston C, ODonnell-Luria A
Hum Genet
. 2023 Feb;
143(4):545-549.
PMID: 36739343
Reference population databases like the Genome Aggregation Database (gnomAD) have improved our ability to interpret the human genome. Variant frequencies and frequency-derived tools (such as depletion scores) have become fundamental...
2.
Penon-Portmann M, Carlston C, Martin P, Slavotinek A
Mol Syndromol
. 2022 Sep;
13(4):337-342.
PMID: 36158056
Witteveen-Kolk syndrome (WITKOS; OMIM #613406) is a recently described, rare neurodevelopmental syndrome characterized by mild intellectual disability and a recognizable facial gestalt. WITKOS is caused by heterozygous loss-of-function variants in...
3.
Dias K, Carlston C, Blok L, de Hayr L, Nawaz U, Evans C, et al.
Genet Med
. 2022 Aug;
24(9):1952-1966.
PMID: 35916866
Purpose: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor...
4.
Panici B, Nakajima H, Carlston C, Ozadam H, Cenik C, Sarinay Cenik E
Genomics
. 2021 Apr;
113(4):1895-1905.
PMID: 33862179
Non-canonical intronic variants are a poorly characterized yet highly prevalent class of alterations associated with Mendelian disorders. Here, we report the first RNA expression and splicing analysis from a family...
5.
Bean L, Funke B, Carlston C, Gannon J, Kantarci S, Krock B, et al.
Genet Med
. 2019 Nov;
22(3):453-461.
PMID: 31732716
Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient....
6.
Carlston C, Bleyl S, Andrews A, Meyers L, Brown S, Bayrak-Toydemir P, et al.
Am J Med Genet A
. 2019 Feb;
179(5):792-796.
PMID: 30773818
The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss-of-function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC). A two-year-old...
7.
Burrage L, Reynolds J, Baratang N, Phillips J, Wegner J, McFarquhar A, et al.
Am J Hum Genet
. 2019 Feb;
104(3):422-438.
PMID: 30773277
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts,...
8.
Carlston C, Ferdinandusse S, Hobert J, Mao R, Longo N
JIMD Rep
. 2018 Jun;
43:103-109.
PMID: 29923089
Loss-of-function and hypomorphic ECHS1 variants are associated with mitochondrial short-chain enoyl-CoA hydratase deficiency, an inborn error of valine metabolism. We report an 8-year-old boy with developmental delay, ataxia, hemiplegia, and...
9.
DeMille D, Carlston C, Tam O, Palumbos J, Stalker H, Mao R, et al.
Am J Med Genet A
. 2018 Mar;
176(4):945-950.
PMID: 29575629
Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic...
10.
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,...