Christian R Marshall
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Explore the profile of Christian R Marshall including associated specialties, affiliations and a list of published articles.
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197
Citations
15577
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Recent Articles
1.
Howell K, White S, McTague A, DGama A, Costain G, Poduri A, et al.
NPJ Genom Med
. 2025 Feb;
10(1):13.
PMID: 40016282
Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of...
2.
Pipko N, Oh R, Kaplan A, Shugar A, Szuto A, Weinstein M, et al.
Br J Dermatol
. 2024 Nov;
PMID: 39579378
No abstract available.
3.
Stark Z, Glazer D, Hofmann O, Rendon A, Marshall C, Ginsburg G, et al.
Nat Rev Genet
. 2024 Oct;
26(2):141-147.
PMID: 39375561
Genomic data from millions of individuals have been generated worldwide to drive discovery and clinical impact in precision medicine. Lowering the barriers to using these data collectively is needed to...
4.
Man A, Di Scipio M, McConkey H, Hough R, Stein N, Diehl E, et al.
Am J Med Genet A
. 2024 Sep;
197(2):e63864.
PMID: 39324309
Disorders of developmental delay can occur from pathogenic variants in genes responsible for epigenetic regulation. Heterozygous and biallelic pathogenic variants in TET3 have recently been described in TET3-related Beck-Fahrner syndrome...
5.
Pasternak Y, Vong L, Merico D, Abrego Fuentes L, Scott O, Sham M, et al.
J Allergy Clin Immunol Glob
. 2024 May;
3(3):100267.
PMID: 38800615
Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function. Biallelic pathogenic variants in...
6.
Oh R, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki K, et al.
HGG Adv
. 2024 Apr;
5(3):100299.
PMID: 38659227
Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology...
7.
Fehlings D, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald J, et al.
Nat Genet
. 2024 Mar;
56(4):585-594.
PMID: 38553553
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and...
8.
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.
9.
Asanad K, Greenfeld E, Scherer S, Yuen R, Marshall C, Lo K, et al.
Cureus
. 2024 Jan;
15(12):e51140.
PMID: 38283528
Purpose This article aims to report the first series of men with complete microduplications and their clinical and reproductive characteristics. Methods We sampled 3000 men who presented for reproductive urology...
10.
Price T, Hodgkinson V, Westbury G, Korngut L, Innes M, Marshall C, et al.
Can J Neurol Sci
. 2024 Jan;
51(5):660-671.
PMID: 38178730
Objectives: Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and represents a significant burden of care. An improved understanding of the epidemiology of SMA in Canada...