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Author Details

Eden Haverfield
Invitae Corporation
2005
27
14
PMIDPaper TitleJournal TitlePublished Year
36621880Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med2023
37535880Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.JCO Precis Oncol2023
35783293The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Front Genet2022
34037665Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.JAMA Cardiol2021
34732190Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.BMC Med2021
34404389Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.BMC Med2021
31239557Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)".Genet Med2019
30245515Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.Genet Med2019
29300372Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.Genet Med2018
30240112Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.Am J Med Genet A2018
26697951FTO variant associated with malformation syndrome.Am J Med Genet A2016
26633542Clinical application of whole-exome sequencing across clinical indications.Genet Med2016
26283062Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.J Genet Couns2016
27446933Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.Front Cardiovasc Med2016
27133397Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.Am J Med Genet A2016
25356966Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.Genet Med2015
26235985Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.Am J Hum Genet2015
25923035Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.Pediatr Dev Pathol2015
25914815Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.Clin Case Rep2015
25758935Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.J Inherit Metab Dis2015
24218399Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.Prenat Diagn2014
20729791A pharmacogenetic study of vorinostat glucuronidation.Pharmacogenet Genomics2010
19050731Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.Eur J Hum Genet2009
19701948SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.Hum Mutat2009
19545555Comparison of performance of three commercial platforms for warfarin sensitivity genotyping.Clin Chim Acta2009
15388579UGT1A1 variation and gallstone formation in sickle cell disease.Blood2005
15806398Genetic evidence in support of a shared Eurasian-North African dairying origin.Hum Genet2005
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Collaborators

Edward D Esplin
Invitae Corporation
Co-authored papers 8
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 7
Robert L Nussbaum
Invitae Corporation
Co-authored papers 6
Megan T Cho
Co-authored papers 4
Kathryn E Hatchell
Invitae Corporation
Co-authored papers 3
Peter J Hulick
Neaman Center for Personalized Medicine, NorthShore University HealthSystem
Co-authored papers 2
Margaret Harr
Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
Kelly E Ormond
Stanford University School of Medicine
Co-authored papers 2
Scott M Weissman
Center for Medical Genetics, NorthShore University HealthSystem
Co-authored papers 2
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Co-authored papers 2
Daniel E Pineda-Alvarez
Invitae Corporation
Co-authored papers 2
Tara J Schmidlen
Invitae Corporation
Co-authored papers 2
Elizabeth W Karlson
Brigham and Women's Hospital
Co-authored papers 1
James S Booth
University of Alabama at Birmingham.
Co-authored papers 1
Cong Liu
Columbia University Irving Medical Center, Columbia University
Co-authored papers 1
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 1
Richard R Sharp
Biomedical Ethics, Mayo Clinic and Foundation
Co-authored papers 1
Valentina Hernandez
Co-authored papers 1
Josh F Peterson
Vanderbilt University Medical Center
Co-authored papers 1
Susan Brown Trinidad
University of Washington
Co-authored papers 1
Devin Absher
Kaiser Permanente Research Bank
Co-authored papers 1
Jennifer E Below
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
Co-authored papers 1
Perciliz L Tan
Center for Human Disease Modeling, Duke University School of Medicine
Co-authored papers 1
Scott Topper
Invitae Corporation
Co-authored papers 1
James S Ware
Co-authored papers 1
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Jodell E Linder
Vanderbilt University Medical Center
Co-authored papers 1
Cynthia A Prows
Cincinnati Children's Hospital Medical Center
Co-authored papers 1
Christin Hoell
Northwestern University, Center for Genetic Medicine
Co-authored papers 1
Megan J Puckelwartz
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
Co-authored papers 1
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