Author details

Full Name

Elise Valkanas

Affiliation

Massachusetts General Hospital

ORCID

Career Start Year

2015

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37991862	High-Resolution and Noninvasive Fetal Exome Screening.	N Engl J Med	2023
37595579	Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.	Am J Hum Genet	2023
33977140	WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase.	Neurol Genet	2021
33536627	Author Correction: A structural variation reference for medical and population genetics.	Nature	2021
34054129	Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.	Genet Med	2021
30072743	Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.	Genet Med	2019
30345904	Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.	Physiol Genomics	2018
30240502	matchbox: An open-source tool for patient matching via the Matchmaker Exchange.	Hum Mutat	2018
30060766	Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.	Skelet Muscle	2018
27708273	The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.	J Hum Genet	2017
28603714	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2017
27513830	Phenotypic evolution of UNC80 loss of function.	Am J Med Genet A	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
27253732	Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.	Genet Med	2016
26119818	Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.	Am J Hum Genet	2015

1 - 15 of 15

Rebecca C Spillmann

Duke University School of Medicine

Career Start Year 2015

Number of shared co-authors 8

John Taylor

Oxford University Hospitals NHS Foundation Trust, Churchill Hospital

Career Start Year 2015

Number of shared co-authors 6

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 18

Mathieu Quinodoz

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 2014

Number of shared co-authors 2

Margaret Harr

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2013

Number of shared co-authors 9

Rebecca Truty

Invitae Corporation

Career Start Year 2012

Number of shared co-authors 2

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 31

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 25

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 25

Chandree L Beaulieu

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa

Career Start Year 2009

Number of shared co-authors 16

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 3

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 18

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 2

Kevin M Bowling

Washington University School of Medicine

Career Start Year 2006

Number of shared co-authors 6

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 22

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 7

Michael F Wangler

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 15

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 17

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 8

Daniel Danis

Biomedical Research Center, Slovak Academy of Sciences

Career Start Year 2003

Number of shared co-authors 13

Caroline F Wright

University of Exeter, Royal Devon and Exeter Hospital

Career Start Year 2003

Number of shared co-authors 19

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 6

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 21

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 20

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 7

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 10

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 39

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 19

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 23

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 20

row(s) 1 - 30 of 30

Daniel G MacArthur

Broad Institute of MIT and Harvard

Co-authored papers 9

Monkol Lek

Co-authored papers 5

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 5

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

Camilo Toro

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Cynthia J Tifft

National Human Genome Research Institute

Co-authored papers 4

David R Adams

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Elise Flynn

Royal Children's Hospital

Co-authored papers 4

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 3

Elizabeth Lee

National Institutes of Health

Co-authored papers 3

Murat Sincan

Boston University School of Public Health

Co-authored papers 3

Ben Weisburd

Broad Institute of MIT and Harvard

Co-authored papers 3

May Christine V Malicdan

National Human Genome Research Institute, National Institutes of Health