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Office
41 Avenue Louis Pasteur
Boston, MA 02115Phone+1 312-942-5000- Is this information wrong?
Education & Training
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
Certifications & Licensure
MA State Medical License 2011 - 2026
IL State Medical License 2006 - 2011- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 5 citationsA novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg, Lama AlAbdi, Klaus Mayer, Koray Ütkür, Kristin G Monaghan, Joel Krier, ...> ;Genetics in Medicine. 2022 Jul 1
- 10 citationsCommonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves, Barbara N. Pusey, Stephan Züchner, Elizabeth Blue, Hane Le...> ;Genetics in Medicine. 2021 Feb 12
- 2 citationsIdentification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.Xianru Jiao, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Stefano D'Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Pan Gong, Katheryn Grand, Pedro A. Sanchez-Lara, ...> ;Frontiers in Pharmacology. 2020 Dec 18
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Journal Articles
- Secondary Findings from Clinical Genomic Sequencing: Prevalence, Patient Perspectives, Family History Assessment, and Health-Care Costs from a Multisite StudyKyle 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
Press Mentions
Clinical Gene Discovery Program Solves 30 Medical MysteriesSeptember 18th, 2018
16 Medical Mysteries Finally Solved by DNA TestingMarch 20th, 2019
Hospital Affiliations
Brigham and Women's HospitalBoston, Massachusetts
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