Michael J Bamshad
Overview
Explore the profile of Michael J Bamshad including associated specialties, affiliations and a list of published articles.
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283
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14192
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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.
Vollger M, Korlach J, Eldred K, Swanson E, Underwood J, Bohaczuk S, et al.
Nat Genet
. 2025 Jan;
57(2):469-479.
PMID: 39880924
Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome,...
3.
Dawood M, Heavner B, Wheeler M, Ungar R, LoTempio J, Wiel L, et al.
ArXiv
. 2025 Jan;
PMID: 39764392
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing,...
4.
Faino A, Gordon W, Buckingham K, Stilp A, Pace R, Raraigh K, et al.
Ann Am Thorac Soc
. 2025 Jan;
PMID: 39746161
Rationale: Chronic () airway infection is common and a key contributor to diminished lung function and early mortality in persons with cystic fibrosis (PwCF). Risk factors for chronic among PwCF...
5.
Mori T, Fujimaru T, Liu C, Patterson K, Yamamoto K, Suzuki T, et al.
Kidney Int Rep
. 2024 Dec;
9(12):3580-3591.
PMID: 39698362
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a well-described condition in which approximately 80% of all cases have a genetic explanation; and among sporadic cases without a family history,...
6.
Peron A, DArco F, Aldinger K, Smith-Hicks C, Zweier C, Gradek G, et al.
Eur J Hum Genet
. 2024 Oct;
33(3):312-324.
PMID: 39448799
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this,...
7.
Blue E, Huang S, Khan A, Golden-Grant K, Boyd B, Rosenthal E, et al.
Rare
. 2024 Oct;
2.
PMID: 39421685
Biallelic pathogenic variants in underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here,...
8.
Zalusky M, Gustafson J, Bohaczuk S, Mallory B, Reed P, Wenger T, et al.
Genet Med Open
. 2024 Oct;
2.
PMID: 39421454
Purpose: Rapid genetic testing in the critical care setting may guide diagnostic evaluation, direct therapies, and help families and care providers make informed decisions about goals of care. We tested...
9.
Danis D, Bamshad M, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody L, et al.
HGG Adv
. 2024 Oct;
6(1):100371.
PMID: 39394689
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual,...
10.
Ling H, Raraigh K, Pugh E, Aksit M, Zhang P, Pace R, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2203-2218.
PMID: 39260370
To identify modifier loci underlying variation in body mass index (BMI) in persons with cystic fibrosis (pwCF), we performed a genome-wide association study (GWAS). Utilizing longitudinal height and weight data,...