Bruce D Gelb
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Explore the profile of Bruce D Gelb including associated specialties, affiliations and a list of published articles.
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249
Citations
11104
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Recent Articles
1.
Gelb B
Am J Hum Genet
. 2025 Mar;
112(3):461-466.
PMID: 40054435
This article is based on the address given by the author at the 2024 meeting of The American Society of Human Genetics (ASHG) in Denver, CO. A video of the...
2.
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, et al.
Proc Natl Acad Sci U S A
. 2025 Mar;
122(10):e2419992122.
PMID: 40030011
Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the...
3.
Ward T, Morton S, Venturini G, Tai W, Jang M, Gorham J, et al.
J Am Heart Assoc
. 2025 Mar;
14(5):e036860.
PMID: 40028843
Background: SMAD2 is a coregulator that binds a variety of transcription factors in human development. Heterozygous loss-of-function and missense variants are identified in patients with congenital heart disease (CHD) or...
4.
Kars M, Stein D, Stenson P, Cooper D, Chung W, Gruber P, et al.
Am J Hum Genet
. 2025 Feb;
112(3):583-598.
PMID: 39983722
Congenital heart disease (CHD) is the most common congenital anomaly and a leading cause of infant morbidity and mortality. Despite extensive exploration of the monogenic causes of CHD over the...
5.
Mondragon-Estrada E, Newburger J, DePalma S, Brueckner M, Cleveland J, Chung W, et al.
iScience
. 2025 Jan;
28(2):111707.
PMID: 39877905
Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the...
6.
Odgis J, Kelly N, Sebastin M, Golfinopoulos L, Scarimbolo L, Insel B, et al.
Public Health Genomics
. 2025 Jan;
28(1):85-101.
PMID: 39827879
Introduction: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study...
7.
Kim J, Ney G, Frone M, Haley J, Mirshahi U, Astiazaran-Symonds E, et al.
medRxiv
. 2025 Jan;
PMID: 39802765
Purpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with...
8.
Rai A, Klonowski J, Yuan B, Coveler K, Dardas Z, Egab I, et al.
medRxiv
. 2024 Nov;
PMID: 39606420
Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. Due to low known genetic etiology of congenital heart disease (CHD) cases (less than 40%), we used...
9.
Ramos M, Bonini K, Scarimbolo L, Kelly N, Insel B, Suckiel S, et al.
Am J Hum Genet
. 2024 Nov;
111(12):2607-2617.
PMID: 39566494
Underrepresentation in clinical genomics research limits the generalizability of findings and the benefits of scientific discoveries. We describe the impact of patient-centered, data-driven recruitment and retention strategies in a pediatric...
10.
Smith H, Zettler B, Genetti C, Hickingbotham M, Coleman T, Lebo M, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2094-2106.
PMID: 39288765
Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015-2019), a randomized controlled...