JoelBrettKrierMDMMSc

Clinical Genetics

Physician

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Boston Children’s Hospital/Harvard Medical SchoolResidency, Medical Genetics and Genomics, 2011 - 2014
Rush University Medical CenterResidency, Internal Medicine/Pediatrics, 2006 - 2010
University of Pittsburgh School of MedicineClass of 2006

PubMed

7 citations
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis
Genetics in Medicine. 2022-07-01
1 citations
Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia
Andrew B. Stergachis, Joel B. Krier, Sai Merugumala, Gerard T. Berry, Alexander P. Lin
Molecular Genetics and Metabolism Reports. 2021-03-13
13 citations
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc
Genetics in Medicine. 2021-02-12

Journal Articles

Secondary Findings from Clinical Genomic Sequencing: Prevalence, Patient Perspectives, Family History Assessment, and Health-Care Costs from a Multisite Study
Kyle B Brothers, Joel B Krier, Benjamin S Wilfond, Jonathan S Berg, Laura M Amendola, Sharon E Plon, Jason L Vassy, Gail P Jarvik, Heidi L Rehm, Robert C Green, Nature