Author details

Full Name

Amanda L Bergner

Affiliation

Vagelos College of Physicians and Surgeons, Columbia University

ORCID

Career Start Year

2006

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36740579	Clinical utility of exome sequencing in a pediatric epilepsy cohort.	Epilepsia	2023
37353999	Knowledge and beliefs about epilepsy genetics among Hispanic and non-Hispanic patients.	Epilepsia	2023
36748185	The utility of limited Spanish proficiency in interpreted genetic counseling sessions.	J Genet Couns	2023
34893972	Genetic testing for the epilepsies: A systematic review.	Epilepsia	2022
34855258	A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination.	J Genet Couns	2022
34218495	The evolution of genetic counseling graduate education in New York City during the COVID-19 pandemic: In the eye of the storm.	J Genet Couns	2021
32167623	Reflections on diversity, equity, and inclusion in genetic counseling education.	J Genet Couns	2020
32602153	Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.	J Genet Couns	2020
28932961	Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.	J Genet Couns	2018
29649040	Improvement in Patient-reported Hearing After Treatment With Bevacizumab in People With Neurofibromatosis Type 2.	Otol Neurotol	2018
27759912	Creation of an international registry to support discovery in schwannomatosis.	Am J Med Genet A	2017
28272539	Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.	Eur J Hum Genet	2017
27618824	The Dynamics of a Genetic Counseling Peer Supervision Group.	J Genet Couns	2017
27050651	Health-related Quality of Life of Individuals With Neurofibromatosis Type 2: Results From the NF2 Natural History Study.	Otol Neurotol	2016
27333894	2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.	J Genet Couns	2016
27527648	Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials.	Neurology	2016
26976425	Efficacy and Biomarker Study of Bevacizumab for Hearing Loss Resulting From Neurofibromatosis Type 2-Associated Vestibular Schwannomas.	J Clin Oncol	2016
25786243	Dystrophic spinal deformities in a neurofibromatosis type 1 murine model.	PLoS One	2015
24501699	Incidental parenchymal magnetic resonance imaging findings in the brains of patients with neurofibromatosis type 2.	Neuroimage Clin	2014
25251809	Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.	Am J Med Genet A	2014
25339217	Clinical response to bevacizumab in schwannomatosis.	Neurology	2014
24362817	Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.	Nat Genet	2014
22832780	Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1.	J Child Neurol	2013
23165953	Increased risk of breast cancer in women with NF1.	Am J Med Genet A	2012
19875383	Metanephric stromal tumor arising in a patient with neurofibromatosis type 1 syndrome.	Int J Surg Pathol	2011
20418136	Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.	Mol Genet Metab	2010
18798333	Mutation analysis of B3GALTL in Peters Plus syndrome.	Am J Med Genet A	2008
16816004	Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.	Pediatrics	2006

1 - 28 of 28

Elly Brokamp

Vanderbilt Genetics Institute, Vanderbilt University Medical Center

Career Start Year 2018

Number of shared co-authors 1

Whitley V Kelley

HudsonAlpha Institute for Biotechnology

Career Start Year 2017

Number of shared co-authors 2

Jennefer N Kohler

Stanford Center for Undiagnosed Diseases

Career Start Year 2017

Number of shared co-authors 2

Morgan Similuk

National Institute of Allergy and Infectious Diseases, National Institutes of Health

Career Start Year 2016

Number of shared co-authors 1

Laura M Amendola

Illumina Inc.

Career Start Year 2013

Number of shared co-authors 3

Sawona Biswas

University of California San Francisco

Career Start Year 2013

Number of shared co-authors 3

Kelly M East

HudsonAlpha Institute for Biotechnology

Career Start Year 2012

Number of shared co-authors 3

Leila Jamal

Center for Cancer Research, National Cancer Institute

Career Start Year 2012

Number of shared co-authors 4

Sarah Scollon

Texas Children's Cancer Center, Texas Children's Hospital

Career Start Year 2012

Number of shared co-authors 3

Kathleen F Mittendorf

Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center

Career Start Year 2011

Number of shared co-authors 1

Kandamurugu Manickam

Nationwide Children's Hospital, The Ohio State University College of Medicine

Career Start Year 2010

Number of shared co-authors 1

Lauren Chad

Hospital for Sick Children, Canada University of Toronto

Career Start Year 2008

Number of shared co-authors 0

Julia Wynn

Vagelos College of Physicians and Surgeons, Columbia University

Career Start Year 2007

Number of shared co-authors 4

Adam H Buchanan

Genomic Medicine Institute, Geisinger Medical Center

Career Start Year 2005

Number of shared co-authors 8

Flavia M Facio

Invitae Corporation

Career Start Year 2004

Number of shared co-authors 2

Danya F Vears

University of Melbourne

Career Start Year 2004

Number of shared co-authors 1

Holly K Tabor

Stanford Center for Biomedical Ethics (SCBE), Stanford University

Career Start Year 2000

Number of shared co-authors 7

Brian H Shirts

Institute for Public Health Genetics, University of Washington

Career Start Year 2000

Number of shared co-authors 2

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 5

Sharon Aufox

Northwestern University, Center for Genetic Medicine

Career Start Year 1996

Number of shared co-authors 3

Janet L Williams

Genomic Medicine Institute

Career Start Year 1994

Number of shared co-authors 3

Robin L Bennett

University of Washington

Career Start Year 1992

Number of shared co-authors 4

William A Faucett

Genomic Medicine Institute

Career Start Year 1991

Number of shared co-authors 5

Kathleen A Leppig

Kaiser Permanente Washington

Career Start Year 1987

Number of shared co-authors 3

Barbara B Biesecker

and Translational Research Center

Career Start Year 1987

Number of shared co-authors 5

Ingrid A Holm

Harvard Medical School

Career Start Year 1985

Number of shared co-authors 8

Marc S Williams

University of Washington Medical Center

Career Start Year 1985

Number of shared co-authors 8

Barbara A Bernhardt

Thomas Jefferson University

Career Start Year 1980

Number of shared co-authors 7

Wylie Burke

The Heart Institute, Cincinnati Children's Hospital Medical Center

Career Start Year 1975

Number of shared co-authors 4

Joann Bodurtha

Johns Hopkins McKusick-Nathans Department of Genetic Medicine

Career Start Year 1974

Number of shared co-authors 5

row(s) 1 - 30 of 30

Jaishri O Blakeley

Johns Hopkins University

Co-authored papers 7

Juli Bollinger

Berman Institute of Bioethics, Johns Hopkins University

Co-authored papers 3

Cynthia A James

Johns Hopkins University

Co-authored papers 3

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 2

Brigitte C Widemann

Co-authored papers 2

Carolyn D Applegate

Johns Hopkins University School of Medicine

Co-authored papers 2

Allan J Belzberg

Johns Hopkins University School of Medicine

Co-authored papers 2

Rebecca Nagy

Guardant Health Inc.

Co-authored papers 1

Rakesh K Jain

Massachusetts General Hospital, Harvard Medical School

Co-authored papers 1

Wendy R Uhlmann

University of Michigan School of Medicine ann arbor

Co-authored papers 1

David K Crossman

University of Alabama at Birmingham

Co-authored papers 1

Matthias A Karajannis

Co-authored papers 1

Christopher K Zalewski

Co-authored papers 1

Anat Stemmer-Rachamimov

Massachusetts General Hospital

Co-authored papers 1

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Co-authored papers 1

David Zagzag

Co-authored papers 1

Melanie F Myers

Cincinnati Children's Hospital Medical Center

Co-authored papers 1

Wendy S Vargas

Columbia University Medical Center

Co-authored papers 1

Julie Hoover-Fong

Johns Hopkins University

Co-authored papers 1

Carrie L Blout

Department of Medicine Brigham and Women's Hospital and Harvard Medical School

Co-authored papers 1

Shannon Langmead

Johns Hopkins University School of Medicine

Co-authored papers 1

Stephanie J Brewster

Boston Children's Hospital

Co-authored papers 1

Katie L Lewis

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 1

Katie Fiallos

Kimmel Cancer Center, Johns Hopkins University School of Medicine

Co-authored papers 1

Lori C Jordan

Vanderbilt University Medical Center

Co-authored papers 1

Debra J H Mathews

Carlsberg Laboratory, Case Western Reserve University, Johns Hopkins Medicine, Johns Hopkins School of Medicine, Johns Hopkins School of Public Health, Johns Hopkins University, National Academy of Sciences, Pennsylvania State University, Presidential Commission for the Study of Bioethical Issues

Co-authored papers 1

Tristan T Sands

Columbia University Irving Medical Center

Co-authored papers 1

Kelly E Ormond

Stanford University School of Medicine

Co-authored papers 1

Hudson H Freeze

Co-authored papers 1

Pedram Argani

The Johns Hopkins Hospital

Co-authored papers 1