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Showing 51–67 of 67 results

Advanced filters: Author: Bruce E. Gelb Clear advanced filters

Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Alexander G. Bick
Joshua S. Weinstock
Pradeep Natarajan
Amendments and Corrections11 Mar 2021
Nature

Volume: 591, P: E27
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Brittany M. Wenger
Nihir Patel
Bruce D. Gelb
Research29 Sept 2020
Genetics in Medicine

Volume: 23, P: 94-102
Sampling the host response to SARS-CoV-2 in hospitals under siege

Alexander W. Charney
Nicole W. Simons
Miriam Merad
Correspondence27 Jul 2020
Nature Medicine

Volume: 26, P: 1157-1158
Author Correction: Clonal haematopoiesis and risk of chronic liver disease

Waihay J. Wong
Connor Emdin
Pradeep Natarajan
Amendments and Corrections03 Jul 2023
Nature

Volume: 619, P: E47
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Seyedeh M. Zekavat
Sanni Ruotsalainen
Sebastian Zoellner
Amendments and CorrectionsOpen Access23 Aug 2018
Nature Communications

Volume: 9, P: 1-3
Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

Ruti Parvari
Eli Hershkovitz
Bruce D. Gelb
Research21 Oct 2002
Nature Genetics

Volume: 32, P: 448-452
Crigler-Najjar Syndrome: An Unusual Course with Development of Neurologic Damage at Age Eighteen

Terrence F Blaschke
Paul D Berk
Jeanne G Waggoner
Research01 May 1974
Pediatric Research

Volume: 8, P: 573-590
Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Yang Luo
Masahiro Kanai
Soumya Raychaudhuri
Amendments and Corrections02 Nov 2021
Nature Genetics

Volume: 53, P: 1722
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Seyedeh M. Zekavat
Sanni Ruotsalainen
Sebastian Zoellner
Amendments and CorrectionsOpen Access01 Apr 2020
Nature Communications

Volume: 11, P: 1
Toward governance of artificial intelligence in pediatric healthcare

Felix Richter
Emma Holmes
Benjamin S. Glicksberg
ReviewsOpen Access30 Oct 2025
npj Digital Medicine

Volume: 8, P: 1-14
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis

Nathaniel M. Pearson
Christian Stolte
John M. Greally
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1998-2002
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues

Studies on 3D bioartificial cardiac tissues reveal the impacts of hypertrophic cardiomyopathy-associated RAF1 mutations on sarcomere structure, contractile behavior, Ca²⁺ handling, and intracellular signaling.

Saeideh Nakhaei-Rad
Fereshteh Haghighi
Mohammad R. Ahmadian
ResearchOpen Access21 Jun 2023
Communications Biology

Volume: 6, P: 1-18
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss
Hayley P. Lazar
Katherine Lachlan
Research07 Aug 2019
Genetics in Medicine

Volume: 22, P: 389-397
GUÍA: a digital platform to facilitate result disclosure in genetic counseling

Sabrina A. Suckiel
Jaqueline A. Odgis
Eimear E. Kenny
ResearchOpen Access02 Feb 2021
Genetics in Medicine

Volume: 23, P: 942-949
ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

Bruce D Gelb
Hélène Cavé
Lisa M Vincent
Research01 Mar 2018
Genetics in Medicine

Volume: 20, P: 1334-1345
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Rosalind Verheije
Gabriel S. Kupchik
Jeroen Breckpot
Research05 Oct 2018
European Journal of Human Genetics

Volume: 27, P: 278-290
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss
Hayley P. Lazar
Katherine Lachlan
Amendments and Corrections17 Dec 2019
Genetics in Medicine

Volume: 22, P: 669

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