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
Citations
1641
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Recent Articles
1.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, et al.
Science
. 2024 Oct;
386(6721):516-525.
PMID: 39480921
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core...
2.
Yu Z, Carmichael J, Collins G, DAgostino M, Lessard M, Firth H, et al.
Hum Mol Genet
. 2024 May;
33(17):1506-1523.
PMID: 38776958
The ubiquitin-proteasome system mediates the degradation of a wide variety of proteins. Proteasome dysfunction is associated with neurodegenerative diseases and neurodevelopmental disorders in humans. Here we identified mutations in PSMC5,...
3.
XiangWei W, Perszyk R, Liu N, Xu Y, Bhattacharya S, Shaulsky G, et al.
Cell Mol Life Sci
. 2023 Nov;
80(11):345.
PMID: 37921875
AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a critical...
4.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Jain V, Foo S, Chooi S, Moss C, Goodwin R, Berland S, et al.
Eur J Hum Genet
. 2023 Sep;
31(12):1421-1429.
PMID: 37704779
Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants...
5.
Pickrell W, Fry A
Pract Neurol
. 2023 Jan;
23(2):111-119.
PMID: 36639246
An understanding of epilepsy genetics is important for adult neurologists, as making a genetic diagnosis gives clinical benefit. In this review, we describe the key features of different groups of...
6.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein C, Holder-Espinasse M, et al.
Neurology
. 2022 Oct;
99(14):e1511-e1526.
PMID: 36192182
Background And Objectives: is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism,...
7.
Brock S, Laquerriere A, Marguet F, Myers S, Hongjie Y, Baralle D, et al.
J Med Genet
. 2022 Apr;
60(2):183-192.
PMID: 35393335
Background: Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in or , genes which encode for subunits of the N-methyl-D-aspartate receptor...
8.
Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, et al.
Eur J Hum Genet
. 2021 Oct;
30(1):95-100.
PMID: 34645992
White-Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental Disorders study and clinical testing, we identified 12 individuals from 10 families...
9.
von der Lippe C, Tveten K, Prescott T, Holla O, Busk O, Burke K, et al.
Am J Med Genet A
. 2021 Sep;
188(1):272-282.
PMID: 34515416
By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID),...
10.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson H, Bradley L, et al.
Genet Med
. 2021 Mar;
23(7):1202-1210.
PMID: 33674768
Purpose: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Methods: Genetic and clinical details of new and published individuals with pathogenic KDM6A...