Chad Krilow
Overview
Explore the profile of Chad Krilow including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
5
Citations
266
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.
Bonnycastle L, Swift A, Mansell E, Lee A, Winnicki E, Li E, et al.
CRISPR J
. 2024 Feb;
7(1):53-67.
PMID: 38353623
We developed an efficient CRISPR prime editing protocol and generated isogenic-induced pluripotent stem cell (iPSC) lines carrying heterozygous or homozygous alleles for putatively causal single nucleotide variants at six type...
3.
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.
4.
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....
5.
Koblan L, Erdos M, Wilson C, Cabral W, Levy J, Xiong Z, et al.
Nature
. 2021 Jan;
589(7843):608-614.
PMID: 33408413
Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative C•G-to-T•A mutation (c.1824 C>T; p.G608G) in LMNA, the gene that encodes nuclear lamin A. This mutation causes RNA...