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Joel B. Krier | Researchclopedia

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Joel B. Krier

Brigham and Women's Hospital ORCID

111

Works

5,262

Citations

40

h-index

70

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Cancer Genomics and Diagnostics

Affiliations

Broad Institute2017–2017

Brigham and Women's Hospital2014–2025

Boston Children's Hospital2019–2021

Michael E. DeBakey VA Medical Center2018–2018

The University of Texas MD Anderson Cancer Center2018–2018

Top Works

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis,Danielle R. Azzariti,et al.

2015482 citations

Genomic variations and chromosomal abnormalities

BRCA gene mutations in cancer

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan‐Birsoy,Jaclyn B. Murry,et al.

2019298 citations

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang,Rami Al‐Ouran,et al.

2017219 citations

The BabySeq project: implementing genomic sequencing in newborns

The BabySeq Project Team,Ingrid A. Holm,et al.

2018190 citations

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni,John J. Mulvihill,et al.

2017184 citations

Loss of function mutation in <i>LOX</i> causes thoracic aortic aneurysm and dissection in humans

Vivian S. Lee,Carmen M. Halabi,et al.

2016180 citations

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients

Jason L. Vassy,Kurt D. Christensen,et al.

2017166 citations

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Ragan Hart,Barbara B. Biesecker,et al.

2018160 citations

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Jason L. Vassy,Denise Lautenbach,et al.

2014134 citations