David E Godler
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Explore the profile of David E Godler including associated specialties, affiliations and a list of published articles.
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Citations
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Recent Articles
11.
Godler D, Butler M
Genes (Basel)
. 2021 Sep;
12(9).
PMID: 34573411
This Special Issue includes 15 peer-reviewed articles for publication by experts in Prader-Willi syndrome (PWS) and their reflective area of interest impacting this rare disorder [...].
12.
Bartlett E, Archibald A, Francis D, Ling L, Thomas R, Chandler G, et al.
Am J Med Genet A
. 2021 Sep;
188(1):304-309.
PMID: 34545686
The FMR1 premutation (PM:55-199 CGG) is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and when maternally transmitted is at risk of expansion to a hypermethylated full mutation (FM: ≥ 200...
13.
Martin E, Zhu Y, Kraan C, Kumar K, Godler D, Field M
J Med Genet
. 2021 Jul;
59(7):706-709.
PMID: 34321326
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset condition characterised by cerebellar ataxia and intention tremor, usually found in individuals with FMR1 premutation alleles (PM-CGG expansion of 55-199 repeats). Population...
14.
Baker E, Arora S, Amor D, Date P, Cross M, OBrien J, et al.
J Autism Dev Disord
. 2021 Jul;
53(4):1682-1692.
PMID: 34292487
The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with...
15.
Pandelache A, Francis D, Oertel R, Dickson R, Sachdev R, Ling L, et al.
Genes (Basel)
. 2021 Jun;
12(6).
PMID: 34073864
We describe a female with a 72 CGG premutation (PM) (CGG 55-199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The proband had a high risk...
16.
Jarmolowicz A, Baker E, Bartlett E, Francis D, Ling L, Gamage D, et al.
Am J Med Genet A
. 2021 Feb;
185(5):1498-1503.
PMID: 33544979
Fragile X syndrome (FXS) is caused by CGG expansions of ≥200 repeats (full mutation: FM). Typically, FM causes abnormal methylation of the FMR1 promoter and silencing of FMR1, leading to...
17.
Baker E, Butler M, Hartin S, Ling L, Bui M, Francis D, et al.
Transl Psychiatry
. 2020 Oct;
10(1):362.
PMID: 33116122
Chromosome 15 (C15) imprinting disorders including Prader-Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11-q13 region,...
18.
Kraan C, Baker E, Arpone M, Bui M, Ling L, Gamage D, et al.
Int J Mol Sci
. 2020 Oct;
21(20).
PMID: 33086711
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2...
19.
Baker E, Arpone M, Kraan C, Bui M, Rogers C, Field M, et al.
Sci Rep
. 2020 Jul;
10(1):11701.
PMID: 32678152
Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing...
20.
Shepherd D, Vos N, Reid S, Godler D, Guzys A, Moreno-Betancur M, et al.
Genes (Basel)
. 2020 Jul;
11(7).
PMID: 32630716
Prader-Willi syndrome (PWS) is a rare disorder caused by the loss of expression of genes on the paternal copy of chromosome 15q11-13. The main molecular subtypes of PWS are the...