Stephen F Kingsmore
Overview
Explore the profile of Stephen F Kingsmore including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
157
Citations
10598
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Kobayashi E, Tobin L, Arenchild M, Benson W, Coufal N, Juarez E, et al.
Genet Med
. 2025 Mar;
:101403.
PMID: 40062436
Purpose: To explore long-term trajectories of children who received rapid genome sequencing (RGS) in intensive care settings. Methods: We examined the electronic health records (EHR) of 67 critically ill pediatric...
2.
McCarty R, Saade D, Munot P, Laverty C, Pinz H, Zou Y, et al.
Ann Clin Transl Neurol
. 2025 Feb;
PMID: 39923201
Objective: While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII-related disorders have previously been documented. Methods: We...
3.
Kingsmore S, Wright M, Olsen L, Schultz B, Protopsaltis L, Averbuj D, et al.
Am J Hum Genet
. 2024 Dec;
111(12):2643-2667.
PMID: 39642868
Large prospective clinical trials are underway or planned that examine the clinical utility and cost effectiveness of genome-based newborn screening (gNBS). One gNBS platform, BeginNGS, currently screens 53,575 variants for...
4.
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...
5.
Vong K, Alvarez Y, Noel G, Barton S, Chung C, Howarth R, et al.
bioRxiv
. 2024 Oct;
PMID: 39386543
The neural crest generates numerous cell types, but conflicting results leave developmental origins unresolved. Here using somatic mosaic variants as cellular barcodes, we infer embryonic clonal dynamics of trunk neural...
6.
Oltman S, Rogers E, Baer R, Amsalu R, Bandoli G, Chambers C, et al.
JAMA Pediatr
. 2024 Sep;
178(11):1183-1191.
PMID: 39250160
Importance: Sudden infant death syndrome (SIDS) is a major cause of infant death in the US. Previous research suggests that inborn errors of metabolism may contribute to SIDS, yet the...
7.
Jones D, Hartung J, Lasalle E, Borquez A, Murillo V, Guidugli L, et al.
Life Sci Alliance
. 2024 May;
7(8).
PMID: 38777371
Pathogenic and likely pathogenic variants in the gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a...
8.
Rodriguez K, Vaught J, Salz L, Foley J, Boulil Z, Van Dongen-Trimmer H, et al.
Pediatr Crit Care Med
. 2024 Apr;
25(8):699-709.
PMID: 38668387
Objectives: Analysis of the clinical utility of rapid whole-genome sequencing (rWGS) outside of the neonatal period is lacking. We describe the use of rWGS in PICU and cardiovascular ICU (CICU)...
9.
Chung C, Yang X, Hevner R, Kennedy K, Vong K, Liu Y, et al.
Nature
. 2024 Apr;
629(8011):384-392.
PMID: 38600385
Debate remains around the anatomical origins of specific brain cell subtypes and lineage relationships within the human forebrain. Thus, direct observation in the mature human brain is critical for a...
10.
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Jobanputra V, Schroeder B, Rehm H, Shen W, Spiteri E, Nakouzi G, et al.
NPJ Genom Med
. 2024 Mar;
9(1):23.
PMID: 38538605
No abstract available.