Publications by authors named "Bruce D Gelb"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Bruce D Gelb

Am J Hum Genet· November 2025

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Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure.
Jacqueline A Odgis, Sabrina A Suckiel, Laura Golfinopoulos, Nicole R Kelly, Katherine E Bonini, Bruce D Gelb

Genet Med Open· October 2025

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Toward governance of artificial intelligence in pediatric healthcare.
Felix Richter, Emma Holmes, Florian Richter, Katherine Guttmann, Son Q Duong, Bruce D Gelb

NPJ Digit Med· October 2025

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Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation.
Tara A Lavelle, Jill L Maron, Stephen F Kingsmore, Ching-Hsuan Lin, Yingying Zhu, Bruce D Gelb

J Pediatr· October 2025

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Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Archana Rai, Jonathan Klonowski, Bo Yuan, Karen J Coveler, Zain Dardas, Bruce D Gelb

Am J Hum Genet· July 2025

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Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.
W Scott Watkins, Edgar J Hernandez, Thomas A Miller, Nathan R Blue, Raquel Mae Zimmerman, Bruce D Gelb

Nat Commun· July 2025

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Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.
Abhilash Suresh, Sarah U Morton, Daniel Quiat, Steven R DePalma, Joshua M Gorham, Bruce D Gelb

BMC Med Genomics· July 2025

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Efficient identification of de novo mutations in family trios: a consensus-based informatic approach.
Mariya Shadrina, Özem Kalay, Sinem Demirkaya-Budak, Charles A LeDuc, Wendy K Chung, Bruce D Gelb

Life Sci Alliance· June 2025

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Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
Benjamin A Harrison, Emma Mizrahi-Powell, John Pappas, Kristen Thomas, Subrahmanya Vasishta, Bruce D Gelb

J Clin Invest· June 2025

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Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.
Elizabeth R Feldman, Yunqi Li, David J Cutler, Tracie C Rosser, Stephanie B Wechsler, Bruce D Gelb

Genet Epidemiol· June 2025

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Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease.
Hyeokjin Kwon, Seungyeon Son, Sarah U Morton, David Wypij, John Cleveland, Bruce D Gelb

Med Image Anal· May 2025

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Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Michael C Sierant, Sheng Chih Jin, Kaya Bilguvar, Sarah U Morton, Weilai Dong, Bruce D Gelb

Proc Natl Acad Sci U S A· April 2025

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Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation.
Tara A Lavelle, Jill L Maron, Stephen F Kingsmore, Ching-Hsuan Lin, Yingying Zhu, Bruce D Gelb

medRxiv· April 2025

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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Emma H Wilcox, Ryan F Webb, Kezang C Tshering, Madeline Y Hughes, Hélène Cavé, Bruce D Gelb

Genet Med Open· April 2025

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Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.
Meltem Ece Kars, David Stein, Peter D Stenson, David N Cooper, Wendy K Chung, Bruce D Gelb

Am J Hum Genet· March 2025

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Modeling Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.
Tarsha Ward, Sarah U Morton, Gabriela Venturini, Warren Tai, Min Young Jang, Bruce D Gelb

J Am Heart Assoc· March 2025

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Recessive genetic contribution to congenital heart disease in 5,424 probands.
Weilai Dong, Sheng Chih Jin, Michael C Sierant, Ziyu Lu, Boyang Li, Bruce D Gelb

Proc Natl Acad Sci U S A· March 2025

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2024 ASHG presidential address: Incomplete penetrance and variable expressivity: Old concepts, new urgency.
Bruce D Gelb

Am J Hum Genet· March 2025

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Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study.
Jacqueline A Odgis, Nicole R Kelly, Monisha Sebastin, Laura Golfinopoulos, Beverly J Insel, Bruce D Gelb

Public Health Genomics· February 2025

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Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.
Enrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, Martina Brueckner, John Cleveland, Bruce D Gelb

iScience· February 2025

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Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Cordula M Wolf, Martin Zenker, Olga Boleti, Gabrielle Norrish, Mark Russell, Bruce D Gelb

JACC Basic Transl Sci· February 2025

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Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
Michelle A Ramos, Katherine E Bonini, Laura Scarimbolo, Nicole R Kelly, Beverly Insel, Bruce D Gelb

Am J Hum Genet· December 2024

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Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Archana Rai, Jonathan Klonowski, Bo Yuan, Karen J Coveler, Zain Dardas, Bruce D Gelb

medRxiv· November 2024

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The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, Madison R Hickingbotham, Tanner F Coleman, Bruce D Gelb

Am J Hum Genet· October 2024

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Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Jung Kim, Gina Ney, Megan N Frone, Jeremy S Haley, Uyenlinh L Mirshahi, Bruce D Gelb

medRxiv· October 2024

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