W Scott Watkins
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Explore the profile of W Scott Watkins including associated specialties, affiliations and a list of published articles.
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53
Citations
2725
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Recent Articles
1.
Duran J, Watkins W, Neklason D, Jorde L
G3 (Bethesda)
. 2024 Dec;
15(2).
PMID: 39663846
This study presents a frequency-specific, pedigree-based assessment of hearing acuity heritability. We analysed 34 Utah Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees comprising 464 individuals, using whole-genome sequencing (WGS) and...
2.
Porubsky D, Dashnow H, Sasani T, Logsdon G, Hallast P, Noyes M, et al.
bioRxiv
. 2024 Aug;
PMID: 39149261
Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess...
3.
Watkins W, Hernandez E, Miller T, Blue N, Zimmerman R, Griffiths E, et al.
medRxiv
. 2024 May;
PMID: 38746151
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here,...
4.
Zimmerman R, Hernandez E, Watkins W, Blue N, Tristani-Firouzi M, Yandell M, et al.
Am J Cardiol
. 2023 Jun;
201:224-226.
PMID: 37385178
No abstract available.
5.
Steely C, Watkins W, Baird L, Jorde L
Genome Biol
. 2022 Dec;
23(1):253.
PMID: 36510265
Background: Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia,...
6.
Hateley S, Lopez-Izquierdo A, Jou C, Cho S, Schraiber J, Song S, et al.
Nat Commun
. 2021 Nov;
12(1):6442.
PMID: 34750360
The genetic architecture of atrial fibrillation (AF) encompasses low impact, common genetic variants and high impact, rare variants. Here, we characterize a high impact AF-susceptibility allele, KCNQ1 R231H, and describe...
7.
Musfee F, Agopian A, Goldmuntz E, Hakonarson H, Morrow B, Taylor D, et al.
Genes (Basel)
. 2021 Apr;
12(5).
PMID: 33925651
There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant...
8.
Watkins W, Feusier J, Thomas J, Goubert C, Mallick S, Jorde L
Genome Biol Evol
. 2020 May;
12(6):779-794.
PMID: 32359137
Ongoing retrotransposition of Alu, LINE-1, and SINE-VNTR-Alu elements generates diversity and variation among human populations. Previous analyses investigating the population genetics of mobile element insertions (MEIs) have been limited by...
9.
Goubert C, Thomas J, Payer L, Kidd J, Feusier J, Watkins W, et al.
Nucleic Acids Res
. 2020 Feb;
48(6):e36.
PMID: 32067044
Alu retrotransposons account for more than 10% of the human genome, and insertions of these elements create structural variants segregating in human populations. Such polymorphic Alus are powerful markers to...
10.
Watkins W, Hernandez E, Wesolowski S, Bisgrove B, Sunderland R, Lin E, et al.
Nat Commun
. 2019 Oct;
10(1):4722.
PMID: 31624253
The genetic architecture of sporadic congenital heart disease (CHD) is characterized by enrichment in damaging de novo variants in chromatin-modifying genes. To test the hypothesis that gene pathways contributing to...