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Author Details

Elly Brokamp
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
2018
12
7
PMIDPaper TitleJournal TitlePublished Year
36748709Practical considerations for reinterpretation of individual genetic variants.Genet Med2023
37606373GABRA1-Related Disorders: From Genetic to Functional Pathways.Ann Neurol2023
37930895Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.Bioinformatics2023
35767006Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.Genet Med2022
32190976Limitations of exome sequencing in detecting rare and undiagnosed diseases.Am J Med Genet A2020
33268356Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients.Sci Adv2020
32730690Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Mol Genet Genomic Med2020
30697974A multidisciplinary approach to the clinical management of Prader-Willi syndrome.Mol Genet Genomic Med2019
31238969Juvenile idiopathic arthritis associated with a mutation in GATA3.Arthritis Res Ther2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
30680851Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.J Genet Couns2019
29497923Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.J Genet Couns2018
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Collaborators

Kelly Schoch
Duke University School of Medicine
Co-authored papers 4
John A Phillips
Vanderbilt University Medical Center
Co-authored papers 3
Ellen Macnamara
Co-authored papers 3
Rebecca C Spillmann
Duke University School of Medicine
Co-authored papers 3
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 3
Rizwan Hamid
Vanderbilt University Medical Center
Co-authored papers 3
Kimberly H LeBlanc
National Institute on Drug Abuse
Co-authored papers 2
Allyn McConkie-Rosell
Duke University School of Medicine and Duke Health System
Co-authored papers 2
Bridget C O'Connor
University of Michigan ann arbor
Co-authored papers 2
Paul S Appelbaum
Center for Law, Columbia University Irving Medical Center
Co-authored papers 2
Janet S Sinsheimer
David Geffen School of Medicine
Co-authored papers 2
Vandana Shashi
Duke University School of Medicine
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Sara M Berger
Columbia University Irving Medical Center
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Donna M Martin
University of Michigan ann arbor
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E Clayton
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Jessica L Roberts
Health Law & Policy Institute, University of Houston Law Center
Co-authored papers 1
Jeremy L Warner
Vanderbilt University Medical Center
Co-authored papers 1
John J Mulvihill
University of Oklahoma
Co-authored papers 1
Jennifer A Sullivan
Duke University School of Medicine
Co-authored papers 1
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 1
Claudia B Catarino
Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
Co-authored papers 1
William W Stead
Vanderbilt University Medical Center
Co-authored papers 1
Dan M Roden
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Co-authored papers 1
John Schneider
Avalon Health Economics LLC
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Shruti Marwaha
Stanford University
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Mareike Simon
Abramson Family Cancer Research Institute, Perelman School of Medicine
Co-authored papers 1
Karolynn Siegel
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Release 1.2