Andrew E Fry
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Explore the profile of Andrew E Fry including associated specialties, affiliations and a list of published articles.
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57
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1641
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Recent Articles
11.
Faundes V, Jennings M, Crilly S, Legraie S, Withers S, Cuvertino S, et al.
Nat Commun
. 2021 Feb;
12(1):833.
PMID: 33547280
The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only protein to...
12.
Ragoussis V, Pagnamenta A, Haines R, Giacopuzzi E, McClatchey M, Sampson J, et al.
J Med Genet
. 2021 Feb;
59(4):366-369.
PMID: 33547136
No abstract available.
13.
Balasubramanian M, Dingemans A, Albaba S, Richardson R, Yates T, Cox H, et al.
Eur J Hum Genet
. 2021 Jan;
29(4):625-636.
PMID: 33437032
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported...
14.
Fry A, Marra C, Derrick A, Pickrell W, Higgins A, Naude J, et al.
Am J Hum Genet
. 2020 Nov;
108(1):176-185.
PMID: 33245860
Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Na) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including...
15.
Oegema R, Barakat T, Wilke M, Stouffs K, Amrom D, Aronica E, et al.
Nat Rev Neurol
. 2020 Sep;
16(11):618-635.
PMID: 32895508
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and...
16.
McClatchey M, du Toit Z, Vaughan R, Whatley S, Martins S, Hegde S, et al.
Eur J Med Genet
. 2020 Jun;
63(9):103972.
PMID: 32531461
Mutations in the TRIM8 gene have been described in patients with severe developmental delay, intellectual disability and epilepsy. Only six patients have been described to date. All the previous mutations...
17.
Zaman T, Helbig K, Clatot J, Thompson C, Kang S, Stouffs K, et al.
Ann Neurol
. 2020 Jun;
88(2):348-362.
PMID: 32515017
Objective: Pathogenic variants in SCN3A, encoding the voltage-gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic,...
18.
Durkin A, Albaba S, Fry A, Morton J, Douglas A, Beleza A, et al.
Am J Med Genet A
. 2020 Apr;
182(7):1637-1654.
PMID: 32319732
With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). As...
19.
Aagaard Nolting L, Brasch-Andersen C, Cox H, Kanani F, Parker M, Fry A, et al.
Clin Genet
. 2020 Mar;
97(6):927-932.
PMID: 32170730
Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We...
20.
Yates T, Drucker M, Barnicoat A, Low K, Gerkes E, Fry A, et al.
Hum Mutat
. 2020 Feb;
41(5):1042-1050.
PMID: 32097528
Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioral abnormalities, and seizures. Only 11 affected individuals have been reported to date, and...