Kirsty McWalter
Overview
Explore the profile of Kirsty McWalter including associated specialties, affiliations and a list of published articles.
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94
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1390
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Recent Articles
1.
Wenger T, Scott A, Kruidenier L, Sikes M, Keefe A, Buckingham K, et al.
Am J Hum Genet
. 2025 Feb;
112(3):508-522.
PMID: 39999847
Access to a precise genetic diagnosis (PrGD) in critically ill newborns is limited and inequitable because the complex inclusion criteria used to prioritize testing eligibility omit many patients at high...
2.
McGivern B, Morrow M, Torti E, McWalter K, Wentzensen I, Monaghan K, et al.
HGG Adv
. 2024 Nov;
6(1):100387.
PMID: 39600096
MGA (OMIM: 616061) encodes a dual-specificity transcription factor that regulates the expression of Max-network and T-box family target genes, important in embryogenesis. Previous studies have linked MGA to various phenotypes,...
3.
Aref-Eshghi E, Anderson K, Boulay L, Brown K, Duis J, Giummo C, et al.
HGG Adv
. 2024 Nov;
6(1):100384.
PMID: 39568205
Runt-related transcription factor 1 translocated to 1 (RUNX1T1; also known as eight-twenty-one [ETO]) encodes a transcription regulator for hematopoietic genes and is well known for its involvement in hematologic malignancies,...
4.
Ziegler A, Koval-Burt C, Kay D, Suchy S, Begtrup A, Langley K, et al.
JAMA
. 2024 Oct;
333(3):232-240.
PMID: 39446378
Importance: The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic groups is not well understood. Objective: To report...
5.
Chundru V, Zhang Z, Walter K, Lindsay S, Danecek P, Eberhardt R, et al.
Nat Genet
. 2024 Sep;
56(10):2046-2053.
PMID: 39313616
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of...
6.
Ham H, Jing H, Lamborn I, Kober M, Koval A, Berchiche Y, et al.
Science
. 2024 Sep;
385(6715):eadd8947.
PMID: 39298586
Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in , which encodes G, a key component in heterotrimeric G...
7.
Banks E, Francis V, Lin S, Kharfallah F, Fonov V, Levesque M, et al.
Nat Commun
. 2024 Aug;
15(1):7239.
PMID: 39174524
Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a...
8.
Deb W, Rosenfelt C, Vignard V, Papendorf J, Moller S, Wendlandt M, et al.
Am J Hum Genet
. 2024 Jun;
111(7):1352-1369.
PMID: 38866022
Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are...
9.
Banks E, Francis V, Lin S, Kharfallah F, Fonov V, Levesque M, et al.
medRxiv
. 2024 Feb;
PMID: 38352438
Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of epilepsies in which altered brain development leads to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopment....
10.
Donkervoort S, Mohassel P, OLeary M, Bonner D, Hartley T, Acquaye N, et al.
Ann Clin Transl Neurol
. 2024 Feb;
11(3):629-640.
PMID: 38311799
Objective: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants...