Kevin P Hall
Overview
Explore the profile of Kevin P Hall including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
1822
Followers
0
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Recent Articles
1.
Kingsmore S, Wright M, Smith L, Liang Y, Mowrey W, Protopsaltis L, et al.
Am J Hum Genet
. 2024 Dec;
111(12):2618-2642.
PMID: 39642867
Genome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major impediment to gNBS is imprecision due to variants classified...
2.
Kingsmore S, Smith L, Kunard C, Bainbridge M, Batalov S, Benson W, et al.
Am J Hum Genet
. 2023 Jun;
110(6):1017.
PMID: 37267897
No abstract available.
3.
Kingsmore S, Smith L, Kunard C, Bainbridge M, Batalov S, Benson W, et al.
Am J Hum Genet
. 2022 Aug;
109(9):1605-1619.
PMID: 36007526
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development....
4.
Owen M, Lefebvre S, Hansen C, Kunard C, Dimmock D, Smith L, et al.
Nat Commun
. 2022 Jul;
13(1):4057.
PMID: 35882841
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with...
5.
Owen M, Niemi A, Dimmock D, Speziale M, Nespeca M, Chau K, et al.
N Engl J Med
. 2021 Jun;
384(22):2159-2161.
PMID: 34077649
No abstract available.
6.
Bentley D, Balasubramanian S, Swerdlow H, Smith G, Milton J, Brown C, et al.
Nature
. 2008 Nov;
456(7218):53-9.
PMID: 18987734
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400-800 base pair) reads, but the existence of reference sequences...