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
21.
Vandervore L, Schot R, Milanese C, Smits D, Kasteleijn E, Fry A, et al.
Am J Hum Genet
. 2019 Nov;
105(6):1126-1147.
PMID: 31735293
The redox state of the neural progenitors regulates physiological processes such as neuronal differentiation and dendritic and axonal growth. The relevance of endoplasmic reticulum (ER)-associated oxidoreductases in these processes is...
22.
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, et al.
Clin Genet
. 2019 Mar;
95(5):607-614.
PMID: 30859550
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced...
23.
Turnpenny P, Wright M, Sloman M, Caswell R, van Essen A, Gerkes E, et al.
Am J Hum Genet
. 2018 Dec;
103(6):1054-1055.
PMID: 30526864
No abstract available.
24.
Turnpenny P, Wright M, Sloman M, Caswell R, van Essen A, Gerkes E, et al.
Am J Hum Genet
. 2018 Oct;
103(5):786-793.
PMID: 30343942
PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive complex 1 (PRC1),...
25.
Myers K, White S, Mohammed S, Metcalfe K, Fry A, Wraige E, et al.
Epilepsy Res
. 2018 Aug;
147:121.
PMID: 30104120
No abstract available.
26.
Gardner J, Cushion T, Niotakis G, Olson H, Grant P, Scott R, et al.
Brain Sci
. 2018 Aug;
8(8).
PMID: 30087272
The gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures...
27.
Romaniello R, Arrigoni F, Fry A, Bassi M, Rees M, Borgatti R, et al.
Eur J Med Genet
. 2018 Jul;
61(12):744-754.
PMID: 30016746
A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed...
28.
Myers K, White S, Mohammed S, Metcalfe K, Fry A, Wraige E, et al.
Epilepsy Res
. 2018 Jan;
140:166-170.
PMID: 29367179
Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment,...
29.
Fry A, Fawcett K, Zelnik N, Yuan H, Thompson B, Shemer-Meiri L, et al.
Brain
. 2018 Jan;
141(3):698-712.
PMID: 29365063
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring...
30.
Hamdan F, Myers C, Cossette P, Lemay P, Spiegelman D, Laporte A, et al.
Am J Hum Genet
. 2017 Nov;
101(5):664-685.
PMID: 29100083
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform...