Jacqueline K Rainger
Overview
Explore the profile of Jacqueline K Rainger including associated specialties, affiliations and a list of published articles.
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12
Citations
1231
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Recent Articles
1.
Reijns M, Thompson L, Carlos Acosta J, Black H, Sanchez-Luque F, Diamond A, et al.
PLoS Biol
. 2020 Dec;
18(12):e3001030.
PMID: 33320856
With the ongoing COVID-19 (Coronavirus Disease 2019) pandemic, caused by the novel coronavirus SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2), there is a need for sensitive, specific, and affordable diagnostic...
2.
Mackenzie K, Carroll P, Martin C, Murina O, Fluteau A, Simpson D, et al.
Nature
. 2017 Jul;
548(7668):461-465.
PMID: 28738408
DNA is strictly compartmentalized within the nucleus to prevent autoimmunity; despite this, cyclic GMP-AMP synthase (cGAS), a cytosolic sensor of double-stranded DNA, is activated in autoinflammatory disorders and by DNA...
3.
Shaw N, Brand H, Kupchinsky Z, Bengani H, Plummer L, Jones T, et al.
Nat Genet
. 2017 May;
49(6):969.
PMID: 28546579
No abstract available.
4.
Shaw N, Brand H, Kupchinsky Z, Bengani H, Plummer L, Jones T, et al.
Nat Genet
. 2017 Jan;
49(2):238-248.
PMID: 28067909
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that...
5.
McEntagart M, Williamson K, Rainger J, Wheeler A, Seawright A, De Baere E, et al.
Am J Hum Genet
. 2016 Apr;
98(5):981-992.
PMID: 27108798
Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals...
6.
Metsu S, Rainger J, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, et al.
Hum Mutat
. 2014 Sep;
35(11):1295-300.
PMID: 25196122
We report de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in...
7.
Ansari M, Rainger J, Murray J, Hanson I, Firth H, Mehendale F, et al.
Eur J Med Genet
. 2014 Sep;
57(10):587-95.
PMID: 25195018
Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated...
8.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson K, et al.
Am J Hum Genet
. 2014 Jun;
94(6):915-23.
PMID: 24906020
We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational...
9.
Gerth-Kahlert C, Williamson K, Ansari M, Rainger J, Hingst V, Zimmermann T, et al.
Mol Genet Genomic Med
. 2014 Feb;
1(1):15-31.
PMID: 24498598
Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations - anophthalmia and/or severe microphthalmia - seen in a single specialist ophthalmology center. The mutation...
10.
Williamson K, Rainger J, Floyd J, Ansari M, Meynert A, Aldridge K, et al.
Am J Hum Genet
. 2014 Jan;
94(2):295-302.
PMID: 24462371
Exome sequence analysis of affected individuals from two families with autosomal-dominant inheritance of coloboma identified two different cosegregating heterozygous nonsense mutations (c.370C>T [p.Arg124*] and c. 1066G>T [p.Glu356*]) in YAP1. The...