Kevin McCall
Overview
Explore the profile of Kevin McCall including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
14
Citations
347
Followers
0
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Recent Articles
1.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, et al.
Ann Clin Transl Neurol
. 2023 Mar;
10(5):787-801.
PMID: 37000947
Objective: The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible...
2.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale A, Gannon S, et al.
Am J Hum Genet
. 2021 Mar;
108(3):530-531.
PMID: 33667397
No abstract available.
3.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale A, Gannon S, et al.
Am J Hum Genet
. 2021 Feb;
108(2):368.
PMID: 33545031
No abstract available.
4.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale A, Gannon S, et al.
Am J Hum Genet
. 2020 Dec;
108(1):100-114.
PMID: 33352116
Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can...
5.
Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, et al.
Nat Commun
. 2018 Oct;
9(1):4171.
PMID: 30301978
Genetic factors predictive of severe adolescent idiopathic scoliosis (AIS) are largely unknown. To identify genetic variation associated with severe AIS, we performed an exome-wide association study of 457 severe AIS...
6.
Haller G, Alvarado D, McCall K, Mitra R, Dobbs M, Gurnett C
Nat Methods
. 2016 Oct;
13(11):923-924.
PMID: 27694911
Large-scale mutagenesis of target DNA sequences allows researchers to comprehensively assess the effects of single-nucleotide changes. Here we demonstrate the construction of a systematic allelic series (SAS) using massively parallel...
7.
Alvarado D, McCall K, Hecht J, Dobbs M, Gurnett C
J Med Genet
. 2016 Jan;
53(4):250-5.
PMID: 26729820
Background: Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. Objective: To report chromosome 12q13.13 microdeletions ranging from 13 to...
8.
Haller G, Alvarado D, McCall K, Yang P, Cruchaga C, Harms M, et al.
Hum Mol Genet
. 2015 Nov;
25(1):202-9.
PMID: 26566670
Adolescent idiopathic scoliosis (AIS) is a complex inherited spinal deformity whose etiology has been elusive. While common genetic variants are associated with AIS, they explain only a small portion of...
9.
Ha K, Buchan J, Alvarado D, McCall K, Vydyanath A, Luther P, et al.
Hum Mol Genet
. 2013 Jul;
22(24):4967-77.
PMID: 23873045
Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are associated with distal arthrogryposis type 1 and lethal...
10.
Alvarado D, McCall K, Aferol H, Silva M, Garbow J, Spees W, et al.
Hum Mol Genet
. 2011 Jul;
20(20):3943-52.
PMID: 21775501
Clubfoot affects 1 in 1000 live births, although little is known about its genetic or developmental basis. We recently identified a missense mutation in the PITX1 bicoid homeodomain transcription factor...