Amelia Kirby
Overview
Explore the profile of Amelia Kirby including associated specialties, affiliations and a list of published articles.
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12
Citations
1097
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Recent Articles
1.
Fares A, Desai A, Case L, Sharon C, Klinepeter A, Kirby A, et al.
Mol Genet Metab Rep
. 2024 Sep;
41:101141.
PMID: 39314994
Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in...
2.
Wright C, Quaife N, Ramos-Hernandez L, Danecek P, Ferla M, Samocha K, et al.
Am J Hum Genet
. 2021 May;
108(6):1083-1094.
PMID: 34022131
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare...
3.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha K, et al.
Am J Hum Genet
. 2021 Apr;
108(6):1138-1150.
PMID: 33909992
ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here,...
4.
Navalkele P, Guzman M, Kirby A, Pinz H, Kemp J
J Neuropathol Exp Neurol
. 2020 Oct;
79(11):1250-1252.
PMID: 33085974
No abstract available.
5.
Manole A, Efthymiou S, OConnor E, Mendes M, Jennings M, Maroofian R, et al.
Am J Hum Genet
. 2020 Aug;
107(2):311-324.
PMID: 32738225
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families,...
6.
Castilla-Vallmanya L, Selmer K, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, et al.
Genet Med
. 2020 May;
22(7):1215-1226.
PMID: 32376980
Purpose: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and...
7.
Burton B, Hoganson G, Fleischer J, Grange D, Braddock S, Hickey R, et al.
J Pediatr
. 2019 Sep;
214:165-167.e1.
PMID: 31477379
Objectives: To assess the outcome of population-based newborn screening for mucopolysaccharidosis type II (MPS II) during the first year of screening in Illinois. Study Design: Tandem mass spectrometry was used...
8.
Lee J, Becker B, Kirby A, Knutsen A
Ann Allergy Asthma Immunol
. 2018 Apr;
121(1):125-126.
PMID: 29653236
No abstract available.
9.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
Zarate Y, Smith-Hicks C, Greene C, Abbott M, Siu V, Calhoun A, et al.
Am J Med Genet A
. 2018 Feb;
176(4):925-935.
PMID: 29436146
SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to...
10.
Bray-Aschenbrenner A, Feldenberg L, Kirby A, Fitzpatrick C, Josephsen J
Pediatrics
. 2017 Aug;
140(3).
PMID: 28798146
A 3-day-old term, male infant presented to the emergency department for evaluation of bloody stools. The infant was born after an uncomplicated pregnancy followed by a normal spontaneous vaginal delivery....