Paul Kruszka
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Explore the profile of Paul Kruszka including associated specialties, affiliations and a list of published articles.
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87
Citations
937
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Recent Articles
1.
Chen X, Baker D, Dolzhenko E, Devaney J, Noya J, Berlyoung A, et al.
Nat Commun
. 2025 Mar;
16(1):2340.
PMID: 40057485
Variant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes by phasing all haplotypes of paralogous genes together....
2.
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...
3.
Lin A, Kruszka P
Am J Med Genet C Semin Med Genet
. 2025 Jan;
e32129.
PMID: 39804034
Given the overwhelming volume of medical information, medical guidelines play a key role in informing clinicians and payors and guidelines directly affect how patients, and their families will be treated....
4.
Sabeh P, Dumas S, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al.
Am J Hum Genet
. 2024 Dec;
112(1):75-86.
PMID: 39721588
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29...
5.
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,...
6.
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...
7.
Cope H, Milko L, Jalazo E, Crissman B, Foreman A, Powell B, et al.
Genet Med
. 2024 Oct;
26(12):101290.
PMID: 39375994
Purpose: Research is underway worldwide to investigate the feasibility, acceptability, and utility of sequencing-based newborn screening. Different methods have been used to select gene-condition pairs for screening, leading to highly...
8.
Borroto M, Michaud C, Hudon C, Agrawal P, Agre K, Applegate C, et al.
Genes (Basel)
. 2024 Aug;
15(8).
PMID: 39202393
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well,...
9.
Blanton L, San Roman A, Wood G, Buscetta A, Banks N, Skaletsky H, et al.
Cell Genom
. 2024 Aug;
4(9):100628.
PMID: 39111319
Recent in vitro studies of human sex chromosome aneuploidy showed that the Xi ("inactive" X) and Y chromosomes broadly modulate autosomal and Xa ("active" X) gene expression. We tested these...
10.
Blanton L, San Roman A, Wood G, Buscetta A, Banks N, Skaletsky H, et al.
bioRxiv
. 2024 Apr;
PMID: 38562807
Recent studies of human sex chromosome aneuploidy showed that the Xi ("inactive" X) and Y chromosomes broadly modulate autosomal and Xa ("active" X) gene expression in two cell types. We...