• 2092 Citations
  • 23 Scopus h-Index
20022020

Research output per year

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Network

Silvia Tortorelli

  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Departments of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology

External person

Dimitar Gavrilov

  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Departments of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine
  • Clinical Genomics

External person

Piero Rinaldo

  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Mayo Clinic College of Medicine
  • Yale University
  • Aarhus University
  • Division of Laboratory Genetics
  • Dept. of Lab. Med. and Pathology
  • Mayo Clinic School of Medicine
  • University of Alabama
  • Department of Laboratory Medicine and Pathology
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Research Unit for Molecular Medicine
  • Biochemical Genetics Laboratory
  • Department of Pediatric and Adolescent Medicine
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Department of Experimental Pathology and Laboratory Medicine
  • College of Medicine
  • Department of Clinical Genomics
  • Departments of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Laboratory Medicine
  • Department of Genetics
  • Division of Laboratory Genetics

External person

Kimiyo Raymond

  • Mayo Clinic School of Medicine
  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Laboratory Genetics
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Departments of Laboratory Medicine and Pathology
  • Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic

External person

M. J. Magera

  • Mayo Clinic College of Medicine
  • Dept. of Lab. Medicine and Pathology
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Biochemical Genetics Laboratory
  • Department of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology

External person

Coleman T. Turgeon

  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Biochemical Genetics Laboratory
  • Department of Laboratory Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Mayo Clinic College of Medicine
  • Center for Individualized Medicine, Mayo Clinic

External person

Dietrich Matern

  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Pediatric and Adolescent Medicine
  • Department of Medical Genetics
  • Research Unit for Molecular Medicine
  • Aarhus University
  • Biochemical Genetics Laboratory
  • Dept. of Lab. Medicine and Pathology
  • Department of Medical Genetics
  • Biochemical Genetics Laboratory
  • Department of Medical Genetics
  • Department of Laboratory Medicine and Pathology
  • Department of Medical Genetics
  • College of Medicine
  • Department of Clinical Genomics
  • Departments of Laboratory Medicine and Pathology
  • Department of Pediatrics
  • Clinical Genomics
  • Division of Laboratory Genetics
  • Department of Pediatrics
  • Duke University Medical Center
  • Dept. Lab. Medicine and Pathology
  • Department of Obstetrics and Gynecology
  • Departments of Laboratory Medicine and Pathology and Laboratory Genetics
  • University of Freiburg
  • Augusta University
  • Dept. of Lab. Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Experimental Pathology and Laboratory Medicine
  • University of Rochester
  • Heritable Disorder Branch
  • National Institutes of Health
  • Laboratory Medicine
  • Duke Children's Hosp./Health Center
  • Ludwig Maximilian University of Munich
  • Medical Genetics
  • Department of Pediatric and Adolescent Medicine
  • College of Medicine
  • University of Zurich

External person

Pinar Bayrak-Toydemir

  • University of Utah
  • Department of Pathology

External person

C. Bacino

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics

External person

Si Houn Hahn

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Department of Pediatric and Adolescent Medicine
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Biochemical Genetics Laboratory
  • Department of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Biochemical Genetics Laboratory
  • Laboratory Medicine

External person

Eva H. Baker

  • University of Minnesota
  • Department of Radiology
  • Department of Radiology
  • Center for Magnetic Resonance Research

External person

Roderick A. Capaldi

  • MitoSciences, Inc.
  • University of Oregon
  • Department of Biology
  • Institute of Molecular Biology
  • Department of Molecular Biology
  • Institute of Molecular Biology

External person

A. Balasubramanyam

  • Baylor College of Medicine
  • Department of Endocrinology, Metabolism and Diabetes
  • Endocrine Service
  • Michael E. DeBakey VA Medical Center

External person

Jonathan A. Bernstein

  • Perinatal Epidemiology and Health Outcomes Research Unit
  • Stanford University
  • Department of Pediatrics

External person

Pankaj B. Agrawal

  • Divisions of Genetics and Genomics and Newborn Medicine
  • Harvard University
  • Division of Genetics and Genomics

External person

Noemi Vidal-Folch

  • Mayo Clinic Rochester, MN
  • Mayo College of Medicine
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Departments of Laboratory Medicine and Pathology

External person

Mahshid Azamian

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine

External person

J. M. Lacey

  • Department of Laboratory Medicine and Pathology
  • Mayo College of Medicine
  • Mayo Clinic College of Medicine
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Division of Laboratory Genetics
  • Dept. of Lab. Medicine and Pathology

External person

David R. Adams

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Network
  • University of Ioannina
  • Department of Pediatrics
  • Undiagnosed Diseases Program
  • Office of the Director

External person

S. James Remington

  • Department of Physics
  • University of Oregon
  • Institute of Molecular Biology
  • Institute of Molecular Biology

External person

Dawn S. Peck

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Genetics

External person

Perry R. Loken

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Biochemical Genetics Laboratory
  • Mayo Clinic Rochester, MN
  • Division of Nephrology and Hypertension

External person

Ester Perales-Clemente

  • Center for Regenerative Medicine, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Center for Regenerative Medicine, Mayo Clinic
  • Department of Medicine and Transplant Center
  • Center for Regenerative Medicine
  • Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Wanek Program for Hypoplastic Left Heart Syndrome
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Center for Regenerative Medicine, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic

External person

Gerard T. Berry

  • Thomas Jefferson University
  • Harvard University
  • Division of Hematology/Oncology

External person

Michael S. Watson

  • American College of Medical Genetics
  • American Society Nuclear Cardiology

External person

Camille L. Birch

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Euan Ashley

  • United States Army
  • Stanford University
  • School of Medicine
  • Department of Family Medicine
  • Division of Cardiovascular Medicine
  • School of Medicine
  • Division of Cardiovascular Medicine
  • Stanford University

External person

Hugo J. Bellen

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Baylor College of Medicine
  • Department of Neuroscience
  • BCM
  • Howard Hughes Medical Institute

External person

George T. Hanson

  • Department of Chemistry
  • Invitrogen Corporation
  • University of Oregon
  • Institute of Molecular Biology
  • Institute of Molecular Biology

External person

Emily H. Smith

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Dept. of Lab. Medicine and Pathology
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Laboratory Medicine and Pathology

External person

Fred Lorey

  • California State Department of Health
  • Genetic Disease Screening Program
  • California Department of Public Heath
  • California Department of Public Health
  • California Department of Health Services
  • California Department of Public Health
  • California Department of Public Heath

External person

David McHugh

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Dept. of Lab. Medicine and Pathology
  • Department of Laboratory Medicine and Pathology

External person

Robert Aggeler

  • Department of Biology
  • University of Oregon
  • Institute of Molecular Biology
  • Institute of Molecular Biology

External person

Gessi Bentz Pino

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Catharine John

  • KK Women's and Children's Hospital
  • KK Women's and Children's Hospital

External person

Golam Sarwar

  • University of Chicago Research Bangladesh

External person

Christopher Lau

  • Memorial Sloan Kettering Cancer Center
  • Memorial Sloan-Kettering Cancer Center
  • Department of Pathology
  • National Institutes of Health
  • Undiagnosed Diseases Network

External person

Jonessy Quesada

  • Hospital Nacional de Niños
  • Hospital Nacional de Ninos Dr. Carlos Saenz Herrera

External person

Evans, Jared M.

  • Mayo Clinic Rochester, MN
  • Department of Health Sciences and Research, Mayo Clinic

External person

Tariqul Islam

  • University of Chicago Research Bangladesh

External person

Laura M. Amendola

  • University of Washington
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Department of Medicine, Division of Cardiology, University of Washington
  • Division of Medical Genetics

External person

Pengfei Liu

  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • BCM

External person

Francesca Teofoli

  • Azienda Ospedaliera Universitaria Integrata di Verona
  • Azienda Ospedaliera Universitaria Integrata di Verona

External person

J. Carl Pallais

  • Harvard University

External person

Amy Hietala

  • Minnesota Department of Health

External person

Jill Rosenfeld

  • PerkinElmer Inc.
  • PerkinElmer, Inc.
  • Signature Genomics
  • PerkinElmer, Inc.
  • Baylor College of Medicine
  • Signature Genomic Laboratories
  • Department of Molecular and Human Genetics
  • Exome Laboratory
  • Baylor Miraca Genetics Laboratory
  • PerkinElmer, Inc.
  • Baylor Genetics, LLC
  • BCM

External person

Consuelo Ruiz

  • Universidad Auto ́noma de Nuevo León
  • Universidad Autonoma de Nuevo Leon
  • Universidad Autó noma de Nuevo Leó n
  • Universidad Autonoma de Nuevo Leon

External person

M. Rahman

  • BRAC
  • Research and Evaluation Division
  • School of Medicine
  • Deakin University
  • La Trobe University
  • Department of Global Health
  • Research and Evaluation Division
  • University of Tokyo
  • BRAC University
  • University of Chicago Research Bangladesh

External person

Jón J. Jónsson

  • Landspitali-University of Iceland
  • University of Iceland
  • Department of Genetics and Molecular Medicine

External person

Roland Schoos

  • University of Liege
  • Centre Hospitalier Universitaire de Liège

External person

Adrienne Manning

  • Public Health Laboratory
  • Connecticut Agricultural Experiment Station
  • Connecticut Department

External person

Barbara Lesko

  • Indiana Newborn Screening Laboratory

External person

Claudia Carducci

  • Sapienza University of Rome
  • University of Rome La Sapienza

External person

Lars Mørkrid

  • Rikshospitalet-Radiumhospitalet HF
  • University of Oslo
  • KG Jebsen Center for Breast Cancer Research
  • Department of Medical Biochemistry
  • Department of Medical Biochemistry

External person

Darrin W. Sevier

  • Kentucky Department for Public Health

External person

Gary L. Hoffman

  • Screeningzentrum Hessen
  • University of Wisconsin-Madison
  • Screening-Zentrum Hessen

External person

Lawrence C. Greed

  • Princess Margaret Hospital for Children
  • Department of Clinical Biochemistry

External person

Jose Angel Cocho De Juan

  • Hospital Clínico Universitario
  • University of Santiago de Compostela

External person

Jasmin Torres

  • Florida Newborn Screening Program

External person

Yannis Dotsikas

  • University of Athens School of Pharmacy
  • National and Kapodistrian University of Athens
  • University of Athens

External person

Detlef Knoll

  • Auckland Hospital
  • Auckland City Hospital
  • Greenlane Clinical Centre

External person

Eleanor L. Stanley

  • Michigan Department of Community Health

External person

Jeremy Hart

  • Kentucky Department for Public Health
  • Division of Laboratory Services
  • Department of Pathology & Laboratory Medicine
  • University of Kentucky

External person

Amy L. White

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Sanders, Karen A.

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Biochemical Genetics Laboratory

External person

Michela Cassanello

  • G. Gaslini Institute
  • IRCCS Istituto Giannina Gaslini - Genova
  • Department of Pediatrics
  • University of Genoa

External person

David R. Lynch

  • University of Pennsylvania School of Medicine
  • University of Pennsylvania
  • Division of Oncology
  • Department of Neurology
  • Department of Pharmacology
  • Department of Pharmacology
  • Department of Neurology

External person

Glenn E. Palomaki

  • Brown University
  • University of Miami
  • Foundation for Blood Research
  • McMaster University
  • Women and Infants Hospital of Rhode Island
  • Department of Pathology and Laboratory Medicine
  • Department of Pathology
  • Department of Pathology and Laboratory Medicine
  • Department of Pathology and Molecular Medicine
  • Alpert Medical School
  • Women and Infants Hospital of Rhode Island
  • The Warren Alpert Medical School of Brown University
  • Department of Pathology and Molecular Medicine
  • McMaster University

External person

Lorenzo D. Botto

  • University of Utah
  • Department of Pediatrics

External person

William Hoffman

  • Washington State Department of Health

External person

Nancy N. Breen

  • Indiana Newborn Screening Laboratory

External person

David E. Sesser

  • Oregon State Public Health Laboratory

External person

Mark A. Morrissey

  • New York State Department of Health
  • Wadsworth Center for Laboratories and Research
  • Division of Environmental Health Sciences

External person

Jennifer B. McCormick

  • Department of Laboratory Medicine and Pathology
  • Mayo Clinic Rochester, MN
  • Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Mayo Clinic
  • Division of Health Care Policy and Research
  • Division of Hematology
  • Biomedical Ethics Research Unit
  • Division of General Internal Medicine
  • Biomedical Ethics Program
  • Biomedical Ethics Program
  • Department of Internal Medicine, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Hospital Pharmacy Services
  • Department of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine and Pathology
  • Department of Humanities
  • Pennsylvania State University
  • College of Medicine
  • Mayo College of Medicine
  • Stanford Center for Biomedical Ethics
  • Stanford University
  • East Tennessee State University
  • Division of Biostatistics
  • Division of General Internal Medicine
  • Department of Medicine
  • College of Medicine
  • Department of Healthcare Policy and Research
  • Division of General Internal Medicine
  • Department of Information Technology
  • College of Medicine
  • Department of Medicine
  • Pennsylvania State University

External person

Samantha Dean

  • The University of Chicago
  • Department of Public Health Sciences

External person

Mahera Abdulrahman

  • Dubai Heart Centre
  • Dubai Genetics Centre

External person

Giuseppe Giordano

  • Universita di Padova
  • Università di Padova
  • University of Padova
  • Clinical Genetics Unit

External person

Roger Eaton

  • New England Newborn Screening Program

External person

Patricia L. Hall

  • EGL Genetics
  • Department of Human Genetics
  • Emory University
  • Mayo College of Medicine

External person

James Murray

  • Institute of Molecular Biology
  • University of Oregon
  • Department of Biology
  • Department of Molecular Biology

External person

Muhammad G. Kibriya

  • Department of Health Studies, University of Chicago
  • The University of Chicago
  • University of Oulu
  • Department of Comprehensive Cancer Center, University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • Department of Public Health Sciences
  • Department of Clinical Chemistry and Biocenter Oulu
  • Laboratory of Cancer Genetics and Tumor Biology

External person

Marta Camilot

  • Azienda Ospedaliera Universitaria Integrata di Verona
  • Azienda Ospedaliera Universitaria Integrata di Verona

External person

Yannis L. Loukas

  • University of Athens School of Pharmacy
  • National and Kapodistrian University of Athens
  • University of Athens

External person

Dianne Webster

  • Auckland Hospital
  • Auckland City Hospital
  • Greenlane Clinical Centre

External person

Karen Weck

  • University of North Carolina
  • University of North Carolina at Chapel Hill
  • University of North Carolina
  • Department of Genetics
  • Department of Pathology
  • Department of Pathology and Laboratory Medicine, University of North Carolina
  • Department of Pathology and Laboratory Medicine
  • Carolina Center for Genome Sciences
  • Departments of Genetics and Pathology and Laboratory Medicine
  • The Association for Molecular Pathology

External person

Maria Argos

  • Department of Health Studies, University of Chicago
  • The University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • University of Illinois at Chicago
  • Department of Epidemiology and Biostatistics

External person

Sharon A. Willis

  • Oregon State Public Health Laboratory

External person

Jim Bonham

  • Sheffield Children's NHS Foundation Trust

External person

Elisabetta Pasquini

  • Meyer Children's Hospital
  • Azienda Ospedaliero Universitaria Meyer

External person

Veronica Wiley

  • Children's Hospital at Westmead
  • University of Sydney

External person

Jason S. Eckerman

  • Mayo College of Medicine
  • Biochemical Genetics Laboratory
  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Margherita Ruoppolo

  • Università Degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate
  • Università Degli Studi di Napoli Federico II
  • University of Naples Federico II

External person

Laura Vilarinho

  • National Institute of Health Doutor Ricardo Jorge
  • National Health Institute Doutor Ricardo Jorge Porto
  • National Health Institute Doutor Ricardo Jorge
  • Institute of Medical Genetics Jacinto de Magalhães

External person

Carlene Campbell

  • Missouri Public Health Laboratory
  • Missouri State Public Health Laboratory

External person

Eszter Karg

  • University of Szeged
  • University of Szeged
  • Department of Pediatrics

External person

Ayesha Ahmad

  • Children's Hospital of Michigan
  • University of Michigan, Ann Arbor
  • Department of Pediatrics

External person

Italo Antonozzi

  • Sapienza University of Rome
  • University of Rome La Sapienza

External person

Melanie Downing

  • Sheffield Children's NHS Foundation Trust

External person

Hyung Doo Park

  • Sungkyunkwan University School of Medicine
  • Sungkyunkwan University

External person

Giancarlo La Marca

  • Azienda Ospedaliero Universitaria Meyer
  • Department of Pharmacology
  • University of Florence

External person

Marzia Pasquali

  • University of Utah
  • School of Medicine
  • Department of Pediatrics
  • Department of Pathology

External person

Mary V. Gamble

  • Columbia University
  • Department of Environmental Health Sciences, Columbia University Mailman School of Public Health

External person

Margaret P. Adam

  • University of Washington

External person

Robert Currier

  • California Department of Public Heath
  • California Department of Public Health
  • California Department of Public Heath

External person

Julie McClure

  • University of North Carolina
  • University of North Carolina, Chapel Hill
  • University of North Carolina
  • Division of Genetics and Metabolism

External person

Barry Lewis

  • Princess Margaret Hospital for Children
  • Department of Clinical Biochemistry

External person

Bonifacio Dy

  • Florida Newborn Screening Program

External person

Muhammad Rakibuz-Zaman

  • University of Chicago Research Bangladesh

External person

Margretta R. Seashore

  • Yale University
  • Department of Genetics
  • Department of Pediatrics and Genetics
  • Department of Pediatrics
  • Department of Genetics

External person

Lindsay C. Burrage

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • BCM

External person

Roger Y. Tsien

  • Department of Pharmacology
  • Department of Chemistry and Biochemistry
  • University of California at San Diego
  • Dept. of Pharmacology

External person

Chloe M. Reuter

  • Stanford University

External person

Kimberley Turner

  • University of Iowa

External person

Md Yunus

  • International Centre for Diarrhoeal Disease Research Bangladesh

External person

Pranesh Chakraborty

  • Children's Hospital of Eastern Ontario
  • University of Ottawa
  • Centre hospitalier pour enfants de l'est de l'Ontario

External person

Joseph J. Orsini

  • Wadsworth Center for Laboratories and Research
  • Division of Environmental Health Sciences

External person

Christine D. McKeever

  • Health Laboratory Services
  • Tennessee Department of Health
  • National Health Laboratories
  • Tennessee Department

External person

Mouseline Torquado Domingos

  • Fundação Ecumênica de Proteção Ao Excepcional

External person

Petr Chrastina

  • General University Hospital in Prague
  • Charles University and General University Hospital
  • Charles University
  • Institute of Inherited Metabolic Disorders

External person

A. L. Studinski

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Erin Conboy

  • Mayo Clinic Rochester, MN
  • Clinical Genomics
  • Department of Medical Genetics
  • Center for Individualized Medicine, Mayo Clinic
  • Indiana University - Purdue University Indianapolis
  • Department of Pediatric and Adolescent Medicine
  • Biochemical Genetics Laboratory

External person

Stanton L. Berberich

  • University of Iowa
  • State Hygienic Laboratory

External person

B. D. Anderson

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • College of Medicine
  • Department of Laboratory Medicine and Pathology
  • Molecular Medicine Program
  • Department of Medical Genetics

External person

Lisa Emrick

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Pediatrics
  • BCM

External person

J. E. Abdenur

  • Division of Metabolic Disorders
  • Children's Hospital of Orange County
  • CHOC Children's
  • University of California at Irvine

External person

Issam Khneisser

  • Saint Joseph University

External person

Raquel Yahyaoui

  • Carlos Haya University Hospital
  • Hospital Regional Universitario Carlos Haya

External person

Aida Lemes

  • Instituto de Seguridad Social

External person

Farzana Jasmine

  • Department of Health Studies, University of Chicago
  • The University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • Department of Public Health Sciences

External person

Fizza Gulamali-Majid

  • Department of Health and Mental Hygiene

External person

Tijen Tanyalcin

  • Tanyalcin Medical Lab Selective Newborn Screening
  • Metabolism Unit
  • Tanyalcin Medical Lab Selective Newborn Screening and Metabolism Unit

External person

Lisa A. Schimmenti

  • University of Minnesota
  • Mayo Clinic Rochester, MN
  • Clinical Genomics
  • Department of Pediatrics and Ophthalmology
  • Gene Therapy Program
  • Arnold and Mabel Beckman Center for Transposon Research
  • Department of Pediatrics
  • Department of Pediatrics, Genetics and Metabolism
  • Department of Ophthalmology
  • Pediatrics and Genetics
  • Department of Genetics
  • Developmental Biology Center
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Department of Medicine Developmental Biology Center
  • Departments of Otorhinolaryngology-Head and Neck Surgery
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Department of Otorhinolaryngology, Mayo Clinic
  • Department of Otolaryngology-Head and Neck Surgery
  • Cancer Center

External person

Bridget Wilcken

  • Children's Hospital at Westmead
  • University of Sydney
  • Department of Biochemical Genetics
  • Discipline of Pediatrics and Child Health

External person

Patrick V. Hopkins

  • Missouri Public Health Laboratory
  • Missouri State Public Health Laboratory

External person

Majumdar, Ramanath

  • Mayo College of Medicine

External person

Inderneel Sahai

  • New England Newborn Screening Program

External person

Graham Sinclair

  • Children's and Women's Health Center
  • University of British Columbia

External person

Leifur Franzson

  • Landspitali-University of Iceland
  • University of Iceland
  • Department of Genetics and Molecular Medicine

External person

Sandrine Marie

  • Universite Catholique de Louvain
  • Laboratory of Physiological Chemistry

External person

Vincent J. Lynch

  • Department of Human Genetics
  • The University of Chicago

External person

Tim Davis

  • Washington State Department of Health

External person

Lin Tong

  • Department of Health Studies, University of Chicago
  • The University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • Department of Public Health Sciences

External person

Mary A. Seeterlin

  • Michigan Department of Community Health

External person

Mark McCann

  • Minnesota Department of Health

External person

Eric C. Deutsch

  • Division of Oncology
  • University of Pennsylvania
  • Department of Neurology
  • Department of Pharmacology
  • Department of Pharmacology

External person

Kramer, Karen A.

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Department of Laboratory Medicine and Pathology

External person

Yin Hsiu Chien

  • National Taiwan University

External person

Rosario Torres

  • Universidad Autó noma de Nuevo Leó n
  • Universidad Autonoma de Nuevo Leon

External person

Miao He

  • University of Pittsburgh School of Medicine
  • Children's Hospital of Pittsburgh
  • Emory University
  • University of Pittsburgh
  • Mayo Clinic Rochester, MN
  • Palmieri Metabolic Disease Laboratory
  • University of Pennsylvania
  • Department of Medical Genetics
  • Perelman School of Medicine
  • Department of Pathology and Laboratory Medicine
  • Departments of Pediatrics
  • Department of Human Genetics
  • Department of Pediatrics
  • Division of Laboratory Medicine

External person

Dianne M. Frazier

  • University of North Carolina
  • University of North Carolina, Chapel Hill
  • University of North Carolina
  • Division of Genetics and Metabolism

External person

David Cheillan

  • Hospices Civils de Lyon
  • Hospital Debrousse
  • Hospices civils de Lyon
  • Hôpital Debrousse
  • Hôpital Femme Mère Enfant
  • Centre de Référence des Maladies Héréditaires du Métabolisme

External person

Habibul Ahsan

  • Department of Comprehensive Cancer Center, University of Chicago
  • The University of Chicago
  • Roswell Park Cancer Institute
  • Department of Human Genetics
  • Department of Public Health Sciences
  • Department of Health Studies, University of Chicago
  • Center for Cancer Epidemiology and Prevention
  • Department of Medicine, University of Chicago
  • Department of Cancer Prevention and Control
  • Comprehensive Cancer Center
  • Institute for Population and Precision Health
  • Section of Gastroenterology
  • University of Chicago Department of Medicine
  • Cancer Prevention Institute of California
  • Fred Hutchinson Cancer Research Center
  • Public Health Sciences Division, Fred Hutchinson Cancer Research Center
  • Institute for Population and Precision Health
  • Department of Medicine

External person

Hugo Rocha

  • National Institute of Health Doutor Ricardo Jorge
  • National Health Institute Doutor Ricardo Jorge Porto
  • National Health Institute Doutor Ricardo Jorge

External person

Cecilia Queijo

  • Instituto de Seguridad Social

External person

Matthew T. Wheeler

  • Stanford University

External person

Cory Porter

  • Colorado Department of Public Health and Environment

External person

Gregg Marquardt

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Department of Laboratory Medicine and Pathology

External person

Kathy Tomashitis

  • South Carolina Department of Health and Environmental Control
  • South Carolina Department of Health and Environmental Control

External person

Joel B. Krier

  • Harvard University

External person

Michael F. Marusich

  • MitoSciences, Inc.
  • Institute of Molecular Biology
  • University of Oregon
  • Department of Biology
  • Department of Molecular Biology

External person

Maura Ruzhnikov

  • Stanford University

External person

Wuh Liang Hwu

  • National Taiwan University

External person

Bert Elvers

  • National Institute for Public Health and the Environment
  • National Institute of Public Health and the Environment

External person

S. Graham Caldwell

  • South Carolina Department of Health and Environmental Control

External person

Yuri Cleverthon Sica

  • Fundação Ecumênica de Proteção Ao Excepcional
  • Fundação Ecumênica de Proteção Ao Excepcional

External person

Elly Brokamp

  • Vanderbilt University

External person

Sherlykutty Sunny

  • New York State Department of Health
  • Wadsworth Center for Laboratories and Research
  • Division of Environmental Health Sciences

External person

Shawn Manos

  • Kansas Health and Environmental Laboratories
  • Kansas Department of Health and Environmental Laboratories

External person

Marie Francoise Vincent

  • Universite Catholique de Louvain

External person

Joseph H. Graziano

  • Columbia University
  • Department of Environmental Health Sciences, Columbia University Mailman School of Public Health

External person

David Bick

  • Medical College of Wisconsin
  • Department of Pediatrics

External person

J. Lim

  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • KK Women's and Children's Hospital
  • Mayo College of Medicine
  • KK Women's and Children's Hospital
  • Department of Laboratory Medicine and Pathology

External person

Alejandra Reuben

  • Hospital Nacional de Niños
  • Hospital Nacional de Ninos Dr. Carlos Saenz Herrera

External person

François Boemer

  • University of Liege
  • Centre Hospitalier Universitaire de Liège

External person

Colleen Peterson

  • Kansas Health and Environmental Laboratories
  • Kansas Department of Health and Environmental Laboratories

External person

Iole Maria Di Gangi

  • Universita di Padova
  • Università di Padova
  • University of Padova
  • Clinical Genetics Unit

External person

Soo Youn Lee

  • Sungkyunkwan University School of Medicine
  • Sungkyunkwan University

External person

Mark Dymerski

  • Colorado Department of Public Health and Environment

External person

Hasan Shahriar

  • University of Chicago Research Bangladesh

External person

Thomas A. Childs

  • Health Laboratory Services
  • Tennessee Department of Health
  • National Health Laboratories
  • Tennessee Department

External person

Margot A. Cousin

  • Mayo Clinic
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • University of Toronto
  • Department of Psychology
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Center for Clinical and Translational Science
  • Center for Clinical and Translational Science, Mayo Clinic

External person

Stephan Züchner

  • University of Miami
  • Department of Biology
  • Dr. John T. Macdonald Foundation
  • Division of Oncology-Hematology
  • Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics

External person

Marcia Lavochkin

  • New Hampshire Department of Health and Human Services

External person

Leslie Himstedt

  • Arkansas Department of Health

External person

Roberto Zori

  • Department of Pediatrics
  • University of Florida
  • Department of Pediatrics/Genetics and Metabolism

External person

David B. Goldstein

  • Duke University
  • Duke University Medical Centre
  • Duke University Medical Center
  • University College London
  • University College London
  • Columbia University
  • Institute for Genomic Medicine
  • Center for Human Genome Variation
  • Department of Biology
  • Institute for Genomic Medicine
  • Duke University Medical Center
  • Duke University

External person

Pallavi Patel

  • New Jersey Department of Health and Senior Services
  • State of New Jersey

External person

Joel Charrow

  • Children's Memorial Hospital

External person

Nicole M. Walley

  • Department of Pediatrics
  • Duke University
  • Center for Human Genome Variation
  • Duke University Medical Center

External person

Michele A. Lloyd-Puryear

  • United States Department of Health and Human Services
  • Health Resource Research Administration

External person

John A. Phillips

  • Vanderbilt University

External person

S. T. South

  • University of Utah
  • Departments of Pediatrics and Pathology
  • Department of Pathology
  • Ancestry.com Inc
  • Department of Pediatrics

External person

Ronald Koneski

  • Texas Department of State Health Services
  • Texas Department of State Health Services

External person

June Hynes

  • Memorial University of Newfoundland
  • Faculty of Medicine

External person

Judith St-Onge

  • University of Montreal
  • Centre of Excellence in Neuromics
  • Research Institute of the McGill University Health Centre

External person

Nael Nadif Kasri

  • Donders Institute for Brain

External person

Carlos R. Ferreira

  • Division of Genetics and Metabolism
  • Children's National Medical Center
  • National Institutes of Health

External person

J. Austin Hamm

  • East Tennessee Children's Hospital

External person

Pierre Allard

  • Biochemical Genetics Laboratory
  • University of Montreal

External person

Inmaculada González-Gallego

  • H.U. Virgen de la Arrixaca
  • Centro de Bioquímica y Genética Clínica
  • Lab Methabolopathies
  • Hospital Virgen de la Arrixaca

External person

Christine Vianey-Saban

  • Hospices Civils de Lyon
  • Service Maladies Héréditaries du Métabolisme
  • Hospices civils de Lyon
  • Service des Maladies Héréditaires du Métabolisme

External person

Ivo Kremensky

  • University Hospital of Obstetrics and Gynecology Maichin Dom
  • University Hospital of Obstetrics and Gynecology 'Maichin Dom', Bulgaria

External person

Robert Grier

  • Wayne State University

External person

Daniel Calame

  • BCM
  • Baylor College of Medicine

External person

Patricia A. Ward

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics

External person

David M. Hougaard

  • Statens Serum Institut
  • Section of Neonatal Screening and Hormones
  • Section of Neonatal Screening and Hormones
  • Department of Clinical Biochemistry and Immunology
  • iPSYCH
  • Center for Neonatal Screening
  • Lundbeck Foundation Initiative for Integrative Psychiatric Research
  • The Lundbeck Foundation Initiative for Integrative Psychiatric Research
  • H. Lundbeck A/S

External person

Maira Burin

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service

External person

Roy C. Levitt

  • University of Louvain
  • Johns Hopkins University
  • Universite Catholique de Louvain
  • Med. Dept. of O.
  • Genaera Corporation
  • Magainin Inst. of Molecular Medicine
  • McGill University
  • Ludwig Inst. for Cancer Research
  • Dept. Anesth. and Critical Care Med.
  • Anesthesiology and Critical Care Medicine

External person

Vandana Shashi

  • Duke University Medical Center
  • Duke University
  • Department of Pediatrics
  • Duke University Medical Center

External person

Stephanie L. Nett

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Samantha E. Roellinger

  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic

External person

Carmen Delgado Pecellin

  • Hospital Virgen Del Rocio
  • Hospital Universitario Virgen del Rocio

External person

Denis C. Lehotay

  • University of Saskatchewan

External person

Steve Baumgart

  • Children's National Medical Center

External person

Holly K. Tabor

  • University of Washington
  • Section of Neonatology

External person

James J. Pitt

  • Murdoch Children's Research Institute

External person

D. Cassiman

  • Departments of Internal Medicine and Pediatrics
  • KU Leuven
  • Department of Gastroenterology-Hepatology and Metabolic Center
  • Department of Pediatrics
  • Laboratory of Hepatology
  • Centre for Metabolic Diseases
  • Metabolic Center
  • Department of Hepatology

External person

Pei Tseng Lee

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine

External person

Rachel Fisher

  • University of Michigan, Ann Arbor
  • Department of Pediatrics

External person

Thomas C. Markello

  • Undiagnosed Diseases Program
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Office of the Director
  • Undiagnosed Diseases Network

External person

Derek Wong

  • University of California at Los Angeles
  • Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute

External person

Brianna K. Murray

  • Eastern Virginia Medical School

External person

Ana C. Andreazza

  • University of Toronto
  • Department of Psychiatry and Pharmacology
  • Department of Psychiatry and Pharmacology and Toxicology
  • Department of Psychiatry, University of Toronto
  • Department of Pharmacology and Toxicology
  • Center of Addiction and Mental Health

External person

Feldman, Gerald L.

  • Wayne State University

External person

Clover Carlisle

  • Delaware Public Health Laboratory

External person

Simina Ticau

  • Alnylam Pharmaceuticals

External person

John Wright

  • National Health Service

External person

Tom Long

  • College of American Pathologists
  • Department of Biostatistics

External person

Richard Lewis

  • 8C UHC
  • Wayne Stt. Univ. School of Medicine
  • Wayne State University
  • MI, USA
  • Amer. Assoc. of Electrodiagn. Med.
  • American Association of Neuromuscular & Electrodiagnostic Medicine, Rochester
  • School of Medicine
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Cedars-Sinai Medical Center

External person

Natalie Shallow

  • Vanderbilt University

External person

Jennifer J. Allen

  • Oklahoma State Department of Health

External person

Schultz, Matthew

  • Mayo Clinic Rochester, MN
  • Department of Laboratory Medicine

External person

Elizabeth A. Sellars

  • University of Arkansas for Medical Sciences
  • Division of Biostatistics
  • Section of Genetics and Metabolism

External person

Jimann Shin

  • Harvard University
  • Infinity Pharmaceuticals, Inc.
  • Department of Pediatric Oncology
  • Department of Pediatric Oncology
  • Infinity Pharmaceuticals, Inc.

External person

Gabor T. Marth

  • University of Utah
  • Boston College
  • Department of Biology
  • USTAR Center for Genetic Discovery

External person

Maria Iascone

  • Ospedali Riuniti Di Bergamo
  • Laboratorio di Genetica Medica

External person

Jeremy M. Harris

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Christine Saban

  • Hospices Civils de Lyon
  • Hospices civils de Lyon

External person

Maria Sierra García-Valdecasas Bermejo

  • Unidad de Metabolopatias Del Hospital Universitario Virgen Del Rocio
  • Hospital Universitario Virgen del Rocio

External person

Roberto Giugliani

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • Department of Genetics
  • INAGEMP

External person

E. Mitchell

  • Department of Laboratory Medicine and Pathology Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Medical Genetics

External person

Kinga Beckmann

  • Screeningzentrum Hessen
  • Screening-Zentrum Hessen

External person

Eleanor A. Mulcahy

  • Maine Department of Health and Human Services

External person

D. Marsden

  • Harvard University
  • Department of Genetics

External person

Osama Y. Al-Dirbashi

  • Children's Hospital of Eastern Ontario
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • University of Ottawa

External person

Cynthia J. Tifft

  • Children's National Medical Center
  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Office of the Director
  • Children's National Medical Center

External person

Kimberly J. Guthrie

  • Mayo Clinic Jacksonville, FL
  • Center for Individualized Medicine
  • Center for Individualized Medicine
  • Department of Clinical Genomics

External person

Maria L. Escolar

  • Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center
  • University of North Carolina at Chapel Hill
  • University of Pittsburgh
  • University of North Carolina
  • Program for the Study of Neurodevelopment in Rare Disorders
  • Division of Pediatric Endocrinology

External person

Alfredo Chardon Ramos

  • Puerto Rico Newborn Screening Program

External person

Debbie A. Lawlor

  • University of Bristol
  • MRC Integrative Epidemiology Unit (IEU), Universty of Bristol, Oakfield House
  • School of Social and Community Medicine
  • MRC Integrative Epidemiology Unit
  • MRC Centre for Causal Analyses in Translational Epidemiology
  • Department of Social Medicine
  • Population Health Science
  • Department of Cardiovascular Medicine
  • University of Oxford
  • Bristol NIHR Biomedical Research Centre

External person

Filippo Vairo

  • Mayo Clinic Rochester, MN
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic

External person

Shahira Ahmed Al Nuaimi

  • Dubai Genetics Centre
  • Dubai Heart Centre

External person

Shaina Archer

  • Alberta Health Services
  • Alberta Health Services

External person

A. McConkie-Rosell

  • Box 3028
  • Duke University Medical Center
  • Duke University
  • Department of Pediatrics
  • Department of Pediatrics
  • Div. of Pediatric Genetics
  • Department of Pediatrics
  • Duke University Medical Center
  • Department of Pediatrics

External person

Bruno Casetta

  • Applied Biosystems
  • Applied Biosystems

External person

Michio Hirano

  • Columbia University
  • Center for Translational and Systems Neuroimmunology

External person

Sheila Weiss

  • Washington State Department of Health

External person

Elaine Yee

  • Alnylam Pharmaceuticals

External person

Susan A. Lagerstedt

  • Mayo Clinic Rochester, MN
  • Mayo College of Medicine
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Biochemical Genetics Laboratory

External person

Sandy Fawbush

  • Kentucky Department for Public Health

External person

Carol Lim

  • Children's Hospital at Westmead
  • University of Sydney

External person

Rong Mao

  • University of Utah
  • Associated Regional and University Pathologist Laboratories
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics
  • Department of Pathology
  • Molecular Genetics Section
  • Inst. for Clin. and Exp. Pathology
  • School of Medicine
  • Department of Pathology

External person

Bent Norgaard-Pedersen

  • Statens Serum Institut

External person

Denis Cyr

  • Université de Sherbrooke
  • Université de Sherbrooke

External person

Petr Hornik

  • Charles University and General University Hospital
  • Charles University
  • Institute of Inherited Metabolic Disorders

External person

Rodrigue Rossignol

  • Institute of Molecular Biology
  • University of Oregon
  • Department of Biology

External person

Rosemarie Gerace

  • Women's and Children's Hospital Adelaide

External person

Sandor Turi

  • University of Szeged
  • University of Szeged

External person

Olaf Bodamer

  • University of Miami Miller School of Medicine
  • University of Miami
  • The Dr. John T. Macdonald Foundation
  • Department of Paediatrics
  • Medical University of Vienna
  • Dr. John T. Macdonald Foundation
  • Broad Institute
  • Harvard University
  • Department of Medicine
  • Bascom Palmer Eye Institute and Human Genomics

External person

Marissa Pelosi

  • Alnylam Pharmaceuticals

External person

Robert G. Best

  • University of South Carolina

External person

Helen Cathro

  • Department of Pathology and Laboratory Medicine
  • University of Virginia

External person

Sahar Abdel Atty Sharaf

  • Cairo University Faculty of Medicine
  • Kasr El-Aini School of Medicine
  • Cairo University

External person

Sarah Finer

  • Queen Mary University of London

External person

Virginia P. Sybert

  • University of Washington
  • Group Health Cooperative
  • Division of Medical Genetics
  • Department of Genetics
  • Division of Medical Genetics
  • University of Washington

External person

Joyce Lepage

  • University of Saskatchewan

External person

John J. Alexander

  • Department of Human Genetics
  • EGL Genetics
  • Emory University
  • Department of Human Genetics

External person

Julie A. Anderson

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Stacy J. Hartman

  • Mayo College of Medicine
  • Mayo Clinic
  • Mayo Clinic College of Medicine
  • Mayo Clinic Rochester
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Toray Industries Inc
  • Endocrin Research Unit
  • Cardiovascular Medicine
  • Division of Cardiovascular Medicine
  • Mayo Clinic
  • Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Endocrine Research Unit

External person

Stephen J. Martin

  • Louisiana Department of Health and Hospitals

External person

Philis Hoggatt

  • Mississippi Department of Health

External person

Timothy C. Wood

  • Greenwood Genetic Center
  • Greenwood Genetics Center
  • Metabolic Laboratory
  • Greenwood Genetics Center

External person

Keith W. Muir

  • University of Glasgow
  • Institute of Neuroscience & Psychology
  • University of Miami
  • Department of Neurology
  • Department of Neurology, University of Miami
  • University of Melbourne
  • KU Leuven
  • Laboratory of Neurobiology
  • Flanders Institute for Biotechnology
  • Department of Neurology
  • MacDonald Foundation Department of Human Genetics
  • Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine
  • University of Pennsylvania
  • Evelyn F. McKnight Brain Institute
  • American Heart Association
  • Columbia University
  • NPHS II
  • Yeshiva University
  • University of Greifswald
  • Department of Neurology
  • University of California at Los Angeles
  • Institute for Translational Genomics and Population Sciences
  • Dr. John T. Macdonald Foundation
  • Evelyn F. McKnight Brain Institute
  • Department of Epidemiology and Public Health Sciences
  • Biomedical Research Centre for Mental Health
  • King's College London

External person

Gajja S. Salomons

  • Vrije Universiteit Amsterdam
  • Metabolic Unit
  • Metabolic Unit
  • Metabolic Unit

External person

Debra Freedenberg

  • Vanderbilt University
  • Department of Pediatrics
  • Department of Pediatrics

External person

Ona Adair

  • Pennsylvania Department of Health

External person

Luciana R.C. Garcia

  • Associacao de Pais e Amigos dos Excepcionais de Sao Paulo

External person

Sônia Marchezi Hadachi

  • APAE
  • Associacao de Pais e Amigos dos Excepcionais de Sao Paulo

External person

Monica Frega

  • Donders Institute for Brain
  • University of Twente

External person

William A. Gahl

  • National Institutes of Health
  • Section on Human Biochemical Genetics
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Office of the Director
  • Office of the Clinical Dir.
  • NHGRI

External person

Laura E. Schultz-Rogers

  • Mayo Clinic Rochester, MN
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Clinical Genomics

External person

Oguz Kanca

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine

External person

John Newman

  • Vanderbilt School of Medicine
  • Vanderbilt University
  • T1218 Medical Center N
  • Department of Allergy, Pulmonary, and Critical Medicine
  • Division of Allergy

External person

Ali Pervaiz, M.

  • Mayo Clinic Rochester, MN

External person

Judith Benkendorf

  • American College of Medical Genetics

External person

Marie Morimoto

  • Rare Disease Foundation
  • University of British Columbia

External person

Lance H. Rodan

  • Harvard University
  • Divisions of Genetics and Genomics and Newborn Medicine
  • Department of Pediatrics
  • Division of Genetics and Genomics

External person

Carmen Delgado Pecellin

  • Unidad de Metabolopatias Del Hospital Universitario Virgen Del Rocio
  • Hospital Universitario Virgen del Rocio

External person

Frank Secreto

  • Division of Hematology, Mayo Clinic
  • Mayo Clinic College of Medicine
  • Department of Biochemistry and Molecular Biology
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine
  • Division of General Internal Medicine
  • Department of Orthopedic Surgery
  • Division of Cardiovascular Diseases
  • Div. of Hematol. and Int. Medicine
  • Division of Biochemistry and Molecular Biology
  • Department of Medicine and Transplant Center
  • Division of Hematology
  • Mayo Clinic College of Medicine
  • Wanek Program for Hypoplastic Left Heart Syndrome
  • Mayo Clinic College of Medicine

External person

Michelle Knowles

  • Institute of Molecular Biology
  • University of Oregon
  • Department of Chemistry

External person

David V. Erbe

  • Alnylam Pharmaceuticals

External person

J. M. Stoler

  • Harvard University
  • Division of Genetics
  • Department of Pediatrics

External person

Pedro Santiago-Borrero

  • Puerto Rico Newborn Screening Program

External person

Nassima Boudrahem-Addour

  • Research Institute of the McGill University Health Centre

External person

Julie S. Cohen

  • Division of Neurogenetics
  • Hugo W. Moser Research Institute
  • Kennedy Krieger Institute

External person

Sharon Linard

  • Ohio Department of Health
  • Ohio Department of Health

External person

Tonya D. McCallister

  • Oklahoma State Department of Health

External person

Madeline Graf

  • Stanford University

External person

Pascal Joset

  • University of Zurich

External person

D. E. Morbeck

  • Molecular Biology Mayo Clinic
  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Obstetrics and Gynecology
  • Division of Reproductive Endocrinology and Infertility
  • Division of Laboratory Genetics
  • Department of Biochemistry and Molecular Biology
  • Department of Biochemistry
  • Robert and Arlene Kogod Center on Aging
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Department of Biochemistry

External person

Neil Maffitt

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Department of Laboratory Medicine and Pathology

External person

Silvia Azzarello-Burri

  • University of Zurich

External person

Henrik Åhlman

  • Karolinska Universitetssjukhuset Huddinge
  • Karolinska Institutet

External person

Mootha, Vamsi K.

  • Harvard University

External person

Elizabeth L. Fieg

  • Harvard University

External person

Daniela Ombrone

  • Università Degli Studi di Napoli Federico II, CEINGE-Biotecnologie Avanzate
  • University of Naples Federico II

External person

Andrew Marcus

  • Institute of Molecular Biology
  • University of Oregon
  • Department of Chemistry

External person

Isabel Ibarra-González

  • Instituto de Investigaciones Biomédicas UNAM
  • Universidad Nacional Autonoma de Mexico

External person

Edward Randell

  • Memorial University of Newfoundland
  • Faculty of Medicine

External person

S. Lane Rutledge

  • University of Alabama at Birmingham

External person

Michael Woontner

  • University of Colorado Denver

External person

John E. Reddic

  • South Carolina Department of Health and Environmental Control

External person

David Van Heel

  • Queen Mary University of London
  • Queen Mary University of London
  • Blizard Institute of Cell and Molecular Science
  • Blizard Institute

External person

Dawn Earl

  • Children's Hospital and Regional Medical Center Seattle
  • Seattle Children's
  • Seattle Children's Hospital

External person

Julian A. Martínez-Agosto

  • Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute
  • University of California at Los Angeles
  • Department of Human Genetics

External person

Marcela Vela-Amieva

  • Instituto Nacional de Pediatria

External person

Davide Tonduti

  • University of Pavia
  • Fondazione IRCCS Istituto Neurologico Carlo Besta
  • University of Pavia
  • Department of Child Neurology
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
  • Department of Brain and Behavior
  • Department of Child Neurology and Psychiatry
  • Ospedale dei Bambini Vittore Buzzi

External person

Fariba Shaterferdosian

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Caleb Bupp

  • Spectrum Health
  • Michigan State University

External person

Cynthia S. Gubbels

  • Broad Institute
  • Harvard University
  • Division of Genetics and Genomics

External person

Sara Minnich

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

Sandra K. Loo

  • University of California at Los Angeles
  • Department of Psychiatry and Biobehavioral Science

External person

Donna M. Krasnewich

  • National Institutes of Health

External person

Fayza Abdelhamid Hassan

  • Faculty of Medicine
  • Kasr El-Aini School of Medicine
  • Cairo University
  • Faculty of Medicine

External person

Shinya Yamamoto

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Baylor College of Medicine
  • Department of Neuroscience

External person

David Viskochil

  • University of Utah

External person

Katrin Linda

  • Donders Institute for Brain

External person

Dragana Milosevic

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Molecular Medicine Program

External person

Pritha Chanana

  • Mayo Clinic Rochester, MN
  • Departments of Cardiovascular Medicine (Division of Heart Rhythm Services)
  • Department of Health Sciences and Research, Mayo Clinic
  • Department of Biomedical Statistics and Informatics
  • Center for Individualized Medicine, Mayo Clinic

External person

Emily G. Farrow

  • Children's Mercy Hospitals and Clinics
  • Department of Pediatrics
  • University of Missouri at Kansas City

External person

Patricia Scott

  • Delaware Public Health Laboratory

External person

Michael F. Wangler

  • Jan and Dan Duncan Neurological Research Institute
  • Department of Molecular and Human Genetics
  • Program in Developmental Biology
  • Baylor College of Medicine

External person

Dongxue Mao

  • Jan and Dan Duncan Neurological Research Institute
  • Baylor College of Medicine
  • Department of Pediatrics

External person

Ridsdale, Ross

  • Mayo Clinic Rochester, MN
  • Department of Laboratory Medicine

External person

Adrya Stembridge

  • Emory University
  • Department of Human Genetics

External person

Kristel F. Fijolek

  • West Virginia Department of Health and Human Resources

External person

Kenneth A. Pass

  • International Society of Newborn Screening

External person

Kelly Schoch

  • Department of Pediatrics
  • Duke University
  • Duke University Medical Center

External person

Martin Sillesen

  • University of Copenhagen
  • Harvard University
  • Department of Surgery
  • Department of Anesthesia
  • Division of Trauma, Emergency Surgery and Surgical Critical Care

External person

Anthony R. Gregg

  • Departments of Obstetrics and Gynecology and Maternal Fetal Medicine
  • Baylor University Medical Center at Dallas

External person

Joanna Crawford

  • University of Queensland

External person

Emanuela Scolamiero

  • Università Degli Studi di Napoli Federico II
  • University of Naples Federico II

External person

Lawrence Fisher

  • Children's Hospital of Eastern Ontario
  • Centre hospitalier pour enfants de l'est de l'Ontario
  • University of Ottawa

External person

Schon, Eric A.

  • Columbia University

External person

Ulrika Von Döbeln

  • Karolinska Universitetssjukhuset Huddinge
  • Karolinska Institutet

External person

Natalie Gallant

  • University of California at Los Angeles
  • Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute

External person

Mary Kay Koenig

  • University of Texas Health Science Center at Houston
  • Division of Child and Adolescent Neurology
  • Department of Pediatrics
  • University of Texas at Austin
  • Division of Child and Adolescent Neurology
  • Department of Pediatrics

External person

Maja Radulovic

  • Mayo Medical and Graduate School
  • 642B Guggenheim Building
  • Florida State University
  • Mayo College of Medicine
  • Mayo School of Graduate Medical Education
  • Mayo Clinic Rochester, MN
  • Neurobiology of Disease Graduate Program
  • Rehabilitation Medicine Research Center
  • Neurobiology of Disease Program
  • Department of Physical Medicine and Rehabilitation, Mayo Clinic
  • Neurobiology of Disease Program
  • College of Medicine
  • Center for Individualized Medicine, Mayo Clinic
  • Department of Physical Medicine and Rehabilitation
  • Rehabilitation Medicine Research Center

External person

Kerie Hughes

  • Michigan Public Health Institute

External person

Angelina E. Uno-Antonison

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Volk, Amber K.

  • Legacy Cancer Institute
  • Genetic Counseling

External person

Xiaojia Tang

  • Mayo Clinic Jacksonville, FL
  • Mayo Clinic Comprehensive Cancer Center
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Division of Biostatistics and Bioinformatics
  • Department of Health Sciences and Research, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Department of Cancer Biology
  • Center for Individualized Medicine, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Department of Health Sciences Research (Biostatistics)

External person

Barb Schweitzer

  • North Dakota Department of Health

External person

Yolanda González Irazabal

  • University Hospital Miguel Servet
  • University of Zaragoza

External person

Veronica Cornejo Espinoza

  • Universidad de Chile

External person

Kemppainen, Jennifer

  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics and Pediatrics

External person

Ubaldo Caruso

  • G. Gaslini Institute
  • IRCCS Istituto Giannina Gaslini - Genova
  • Department of Pediatrics
  • University of Genoa

External person

Mounif El-Youssef

  • Mayo College of Medicine
  • Mayo Clinic College of Medicine
  • Mayo Clinic Rochester, MN
  • Department of Pediatrics
  • Pediatric Gastroenterology
  • Department of Pediatric and Adolescent Medicine
  • Department of Neurology
  • Division of Gastroenterology and Hepatology
  • Division of Gastroenterology, Mayo Clinic, 200 First St SW
  • Department of Pediatrics
  • Division of Gastroenterology and Hepatology
  • Department of Pediatrics
  • Center for Individualized Medicine, Mayo Clinic
  • Division of Gastroenterological and General Surgery
  • Division of Gastroenterology and Hepatology
  • Division of Gastroenterology and Hepatology, Mayo Clinic

External person

Daryl A. Scott

  • Department of Molecular and Human Genetics
  • Department of Molecular Physiology and Biophysics
  • Baylor College of Medicine

External person

Karen A. Hunt

  • Queen Mary University of London

External person

Melissa M. Minter Baerg

  • Mayo Clinic Rochester, MN
  • Biochemical Genetics Laboratory

External person

L. Gilbert Vezina

  • Children's National Medical Center

External person

Eline J.H. Van Hugte

  • Donders Institute for Brain

External person

Michelle McClure

  • American College of Medical Genetics

External person

Gail P. Jarvik

  • University of Washington
  • Department of Medicine (Medical Genetics), University of Washington
  • Department of Genome Sciences
  • Department of Epidemiology, University of Washington School of Public Health
  • Division of Medical Genetics
  • Departments of Medicine (J.P.J.
  • Department of Medicine (Medical Genetics)
  • Departments of Medicine (Medical Genetics) and Genome Sciences
  • Department of Epidemiology, University of Washington
  • University of Washington

External person

Gemma Solé Guardia

  • Donders Institute for Brain

External person

Jacob L. McCauley

  • University of Miami
  • Department of Biology
  • Miller School of Medicine

External person

Heather C. Mefford

  • University of Washington
  • Division of Genetic Medicine
  • Section of Neonatology
  • University of Sydney
  • Department of Paediatrics and Child Health
  • Department of Neurology
  • University of Otago

External person

Eduard A. Struys

  • Vrije Universiteit Amsterdam
  • Metabolic Unit
  • Metabolic Unit

External person

Chirag Patel

  • Herston
  • Genetic Health Queensland
  • Royal Brisbane and Women's Hospital

External person

Olga Kochar

  • Department of Pathology and Laboratory Medicine
  • University of Virginia

External person

Luigina Spaccini

  • University of Milan

External person

Wendy Raskind

  • Univ. of Washington Sch. of Medicine
  • University of Washington
  • Department of Neurology
  • Clinical Research Division, Fred Hutchinson Cancer Research Center and Division of Medical Oncology, Department of Medicine, University of Washington School of Medicine

External person

Mark Cannon

  • Department of Chemistry
  • University of Oregon

External person

Gregory D. Jenkins

  • Mayo Clinic Rochester, MN
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic

External person

Barbara M. Eckerd

  • West Virginia Department of Health and Human Resources

External person

Alica Goldman

  • Baylor College of Medicine
  • Peter Kellaway Section of Neurophysiology in Neurology

External person

Coon, Lea M.

  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic

External person

Andrea Accogli

  • Division of Hematology/Oncology
  • Instituto Nazionale per la Ricerca sul Cancro
  • McGill University
  • University of Genoa
  • San Martino Hospital Genoa

External person

Katrina E. Kotzer

  • Mayo Clinic Rochester, MN
  • Mayo College of Medicine
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Medical Genetics

External person

Introne, Wendy

  • National Cancer Institute United States
  • National Institutes of Health

External person

Ward B. Jacox

  • Arizona Game and Fish Department

External person

Steven W. Taylor

  • MitoKor
  • Migenix Inc.

External person

May Christine V. Malicdan

  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Network
  • Section on Human Biochemical Genetics
  • Undiagnosed Diseases Program
  • Office of the Director

External person

Linda Spencer

  • Children's Hospital of Michigan

External person

Daniel L. Kraft

  • Mayo Clinic Rochester, MN
  • Department of Genetics
  • Department of Laboratory Medicine and Pathology
  • Center for Individualized Medicine, Mayo Clinic

External person

D. S. Rosenblatt

  • Royal Victoria Hospital Barrie
  • McGill University
  • Department of Human Genetics
  • Division of Medical Genetics

External person

Berry, Susan A.

  • University of Minnesota
  • Department of Ophthalmology
  • Pediatrics and Genetics
  • Department of Genetics

External person

R. A. Nace

  • Mayo Clinic College of Medicine
  • Mayo College of Medicine
  • Mayo Clinic Rochester, MN
  • Department of Molecular Medicine
  • Department of Molecular Medicine
  • Department of Molecular Medicine, Mayo Clinic
  • Department of Molecular Medicine
  • Department of Molecular Medicine
  • Center for Individualized Medicine, Mayo Clinic

External person

Donna M. Brown

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person

Maanasa Indaram

  • University of California at San Francisco
  • Department of Ophthalmology

External person

Martha J. Horike-Pyne

  • University of Washington
  • Division of Medical Genetics

External person

Robb K. Rowley

  • National Institutes of Health

External person

Joseph Loscalzo

  • University of California at Los Angeles
  • Harvard University
  • Brigham and Women's Hospital
  • Department of Molecular and Medical Pharmacology, University of California, Los Angeles (UCLA)
  • Department of Medicine

External person

Roshini S. Abraham

  • Mayo Clinic Rochester, MN
  • Pennsylvania State University Hershey
  • Mayo College of Medicine
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Laboratory Medicine

External person

Julie Luedtke

  • Nebraska Department of Health and Human Services

External person

Melissa A. Wilk

  • HudsonAlpha Institute of Biotechnology
  • HudsonAlpha Institute for Biotechnology

External person