David Dyment
Overview
Explore the profile of David Dyment including associated specialties, affiliations and a list of published articles.
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28
Citations
674
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Recent Articles
1.
Jolitz L, Helbig I, Fitzgerald M, McKeown Ruggiero S, Cohen S, Angelini C, et al.
Ann Neurol
. 2025 Jan;
97(3):561-570.
PMID: 39749750
Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited....
2.
Hayeems R, Luca S, Xiao B, Boswell-Patterson C, Venegas C, Abi Semaan C, et al.
Genet Med
. 2024 Nov;
27(1):101306.
PMID: 39489893
Purpose: To develop and assess the face and construct validity of the Clinician-reported Genetic Testing Utility Index (C-GUIDE) for genetic testing in prenatal care. Methods: After a literature review and...
3.
Symonds J, Park K, Mignot C, MacLeod S, Armstrong M, Ashrafian H, et al.
Epilepsia
. 2024 Sep;
65(11):3303-3323.
PMID: 39348199
Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited...
4.
van Karnebeek C, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, et al.
Genet Med
. 2024 Feb;
26(6):101104.
PMID: 38411040
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders...
5.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie M, Price E, et al.
Genet Med
. 2023 Nov;
26(2):101012.
PMID: 37924259
Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. Methods: We prospectively enrolled 297 probands who met eligibility criteria...
6.
White-Brown A, Choufani S, Weksberg R, Dyment D
Am J Med Genet A
. 2023 Jun;
191(10):2640-2646.
PMID: 37340855
Floating-Harbor syndrome (FLHS) is a neurodevelopmental disorder (NDD) caused by truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein gene (SRCAP). Truncating variants proximal to this...
7.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, et al.
Elife
. 2023 Jan;
12.
PMID: 36648066
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in were identified in individuals with...
8.
McConkey H, White-Brown A, Kerkhof J, Dyment D, Sadikovic B
Front Cell Dev Biol
. 2023 Jan;
10:1022683.
PMID: 36589751
Wolf-Hirschhorn syndrome (WHS) is caused by deletion of a critical region of the short arm of chromosome 4. Clinical features of WHS include distinct dysmorphic facial features, growth restriction, developmental...
9.
Levy M, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, et al.
Hum Mutat
. 2022 Jul;
43(11):1609-1628.
PMID: 35904121
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently...
10.
Levy M, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, et al.
HGG Adv
. 2022 Jan;
3(1):100075.
PMID: 35047860
Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical...