William B Rizzo

William B Rizzo, MD

  • Phone402-559-2560
Calculated based on number of publications stored in Pure and citations from Scopus
1977 …2024

Research activity per year

Network

D. A. Craft

  • Virginia Commonwealth University
  • Virginia Commonwealth University
  • University of Ume
  • Med. Coll. Virginia Virginia Cmw. U.
  • Umeå University
  • University of Nebraska Medical Center
  • Department of Pediatrics
  • Depts. of Pediat. and Human Genetics
  • Division of Genetics
  • The Hayward Genetics Center
  • Department of Neurology
  • Department of Human Genetics
  • Department of Pediatrics
  • Eastern Virginia Medical School
  • Department of Clinical Genetics
  • Genetics and IVF Institute
  • Tulane University
  • Department of Neurology
  • Louisiana State University
  • Department of Human Genetics
  • Department of Neurology
  • University of California at Davis
  • Louisiana State University
  • Louisiana State University Health Sciences Center

External person

G. Carney

  • Virginia Commonwealth University
  • University of Nebraska Medical Center
  • University of Nebraska
  • Departments of Human Genetics
  • Depts. of Pediat. and Human Genetics
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Nebraska Omaha
  • Division of Genetics
  • Nebraska Medicine

External person

J. D. Schulman

  • National Institutes of Health
  • Virginia Commonwealth University
  • Department of Pediatrics
  • Genetics and IVF Institute
  • Depts. of Pediat. and Human Genetics
  • Section on Human Biochemical Genetics
  • University of California at San Diego
  • Section on Human Biochemical Genetics Human Genetics Branch
  • Department of Pediatrics
  • University of Michigan, Ann Arbor
  • Departments of Pediatrics and Biological Chemistry
  • Section on Biochemical Genetics

External person

Dana S'Aulis

  • University of Nebraska Medical Center

External person

Eric T. Rush

  • University of Nebraska Medical Center
  • Children's Hospital and Medical Center
  • Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center
  • University of Nebraska Medical Center
  • Children's Hospital & Medical Center
  • University of Kansas
  • Children’s Mercy Kansas City
  • Department of Medicine and Surgery
  • Metabolic Bone Clinic
  • Department of Orthopaedic Surgery
  • Division of Medical Informatics
  • Department of Pediatrics
  • Department of Orthopaedic Surgery and Rehabilitation
  • Nebraska Medicine

External person

A. L. Dammann

  • Virginia Commonwealth University
  • University of Ume
  • Umeå University
  • Division of Genetics
  • The Hayward Genetics Center
  • Department of Neurology
  • Department of Human Genetics
  • Department of Pediatrics
  • Eastern Virginia Medical School
  • Department of Clinical Genetics
  • Genetics and IVF Institute
  • Tulane University
  • Department of Neurology
  • Louisiana State University
  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • University of California at Davis
  • Department of Pediatrics
  • National Institutes of Health
  • Louisiana State University
  • Louisiana State University Health Sciences Center

External person

Ann Moser

  • Kennedy Inst. Handicapped Children
  • Virginia Commonwealth University
  • Johns Hopkins University
  • Kennedy Krieger Institute
  • Depts. of Pediat. and Human Genetics
  • Division of Neurogenetics
  • Boston University
  • Department of Biophysics

External person

Mousumi Bose

  • Montclair State University
  • Department of Nutrition and Food Studies
  • Global Foundation for Peroxisomal Disorders

External person

John G. Compton

  • National Institutes of Health, Bethesda
  • GeneDx
  • National Institutes of Health
  • Natl. Inst. Arthr. Musculoskel. S.
  • MSC 2757, Building 6
  • National Institutes of Health
  • National Instruments
  • Laboratory of Skin Biology
  • Skin Biol. Lab. Natl. Inst. A.
  • Genetic Studies Section
  • Genetic Studies Section
  • GeneDX Inc
  • Genetic Studies Section
  • Laboratory of Skin Biology
  • OPKO Health, Inc.

External person

Geraldine R. Rogers

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • Natl. Inst. Arthr. Musculoskel. S.
  • National Institutes of Health
  • National Instruments
  • Laboratory of Skin Biology
  • Skin Biol. Lab. Natl. Inst. A.
  • Genetic Studies Section
  • Genetic Studies Section
  • Genetic Studies Section

External person

Nancy E. Braverman

  • McGill University
  • Departments of Human Genetics and Pediatrics

External person

Vincenzo De Laurenzi

  • National Institutes of Health, Bethesda
  • University of Rome Tor Vergata
  • Skin Biol. Lab. Natl. Inst. A.
  • Ist. Dermopatico Dell' Immacolata
  • Laboratory of Skin Biology
  • National Institutes of Health
  • Laboratory of Skin Biology
  • Ist. Dermopatico Dell' Immaculata

External person

J. N. Clore

  • Virginia Commonwealth University

External person

J. Li

  • Div. of Endocrinology and Metabolism
  • Virginia Commonwealth University

External person

M. W. Phillips

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics
  • Department of Pediatrics
  • National Institutes of Health

External person

R. T. Leshner

  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • Virginia Commonwealth University
  • University of California at Davis
  • Department of Pediatrics
  • National Institutes of Health
  • Departments of Neurology

External person

Jean Baptiste Roullet

  • Oregon Health and Science University
  • Department of Molecular and Medical Genetics
  • Department of Pediatrics
  • Department of Pharmacotherapy
  • Washington State University Spokane

External person

M. L. Williams

  • VA Medical Center
  • Duke University
  • Thomas Jefferson University
  • University of California at San Francisco
  • Dermatology Service
  • VA Medical Center
  • Department of Dermatology
  • Department of Pediatrics, Genetics
  • Department of Pediatrics
  • Department of Dermatology

External person

K. Michael Gibson

  • Department of Pharmacotherapy
  • Washington State University Spokane

External person

Nedialka G. Markova

  • National Institutes of Health, Bethesda
  • Laboratory of Skin Biology
  • Laboratory of Skin Biology
  • National Institutes of Health
  • Skin Biol. Lab. Natl. Inst. A.

External person

Raphael A. Zoeller

  • Boston University
  • Department of Biophysics
  • Department of Biophysics

External person

J. Avigan

  • National Institutes of Health
  • Laboratory of Cellular Metabolism

External person

Kelly Gawron

  • Department of Nutrition and Food Studies
  • Montclair State University

External person

T. L. Kelson

  • Virginia Commonwealth University
  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics
  • Department of Pediatrics

External person

William G. Blackard

  • Virginia Commonwealth University
  • Div. of Endocrinology and Metabolism
  • Depts. of Medicine and Pediatrics
  • Departments of Internal Medicine, Surgery, and Pediatrics
  • Department of Internal Medicine

External person

A. Odone

  • Virginia Commonwealth University
  • Myelin Project
  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • University of California at Davis

External person

S. S. Jennings

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • University of California at Davis
  • Laboratory of Cellular Metabolism
  • Department of Medicine
  • National Institutes of Health

External person

Zhili Lin

  • Virginia Commonwealth University
  • Department of Pediatrics
  • Depts. of Pediat. and Human Genetics
  • Division of Genetics

External person

B. Wolf

  • Virginia Commonwealth University
  • University of Connecticut
  • Department of Pediatrics
  • Depts. of Pathol. and Human Genetics
  • Department of Human Genetics
  • Department of Pediatrics
  • Depts. of Pediat. and Human Genetics

External person

William A. Gahl

  • National Institutes of Health
  • University of California at San Diego
  • University of Michigan, Ann Arbor
  • Intramural Program of the Office of Rare Diseases
  • National Institutes of Health, Bethesda

External person

M. L. Cintra

  • State University of Campinas (Unicamp)
  • State University of Campinas
  • Universidade Estadual de Campinas
  • Department of Pathology

External person

Amin Azzam

  • Virginia Commonwealth University
  • Div. of Endocrinology and Metabolism
  • Departments of Internal Medicine, Surgery, and Pediatrics
  • Department of Internal Medicine

External person

Amiya K. Hajra

  • School of Medicine
  • University of Michigan
  • University of Michigan, Ann Arbor
  • Department of Biochemistry
  • Department of Biological Chemistry
  • Department of Biological Chemistry
  • Boston University
  • Department of Biophysics

External person

Wilhelm Zuelzer

  • Virginia Commonwealth University

External person

David Kronn

  • University of Pittsburgh
  • New York Medical College
  • Department of Pediatrics

External person

G. Kapatos

  • National Institutes of Health
  • Laboratory of Neurochemistry

External person

Ozlem M. Herguner

  • Cukurova University Medical Faculty
  • Cukurova University
  • Department of Pediatric Neurology
  • Department of Pediatric Neurology

External person

Jennifer L. Goodwin

  • University of Nebraska Medical Center
  • Department of Orthopaedic Surgery and Rehabilitation
  • Nebraska Medicine

External person

Marcia Simon

  • State University of New York at Stony Brook
  • State University of New York
  • Stony Brook University
  • Department of Oral Biology and Pathology

External person

Sherri J. Bale

  • National Institutes of Health
  • Natl. Inst. Arthr. Musculoskel. S.
  • Thomas Jefferson University
  • National Institutes of Health
  • Laboratory of Skin Biology
  • Genetic Studies Section
  • National Instruments
  • Genetic Studies Section

External person

M. Bustin

  • National Institutes of Health, Bethesda
  • National Institutes of Health

External person

V. K. Proud

  • Virginia Commonwealth University
  • Child. Hosp. of King's Daughters
  • Eastern Virginia Medical School
  • Depts. of Pathol. and Human Genetics
  • Departments of Human Genetics
  • National Institutes of Health

External person

Faruk Incecik

  • Cukurova University Medical Faculty
  • Cukurova University
  • Department of Pediatric Neurology
  • Department of Pediatric Neurology

External person

M. Di Rocco

  • Istituto G. Gaslini
  • Virginia Commonwealth University
  • IRCCS Istituto Giannina Gaslini - Genova
  • University of Nebraska Medical Center
  • Department of Pediatrics
  • II Division of Pediatrics

External person

Dana R. Schules

  • Montclair State University
  • Department of Nutrition and Food Studies

External person

Ranjodh Gill

  • Virginia Commonwealth University

External person

Peter M. Steinert

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • National Institutes of Health
  • Laboratory of Skin Biology
  • Skin Biol. Lab. Natl. Inst. A.

External person

Markus A. Keller

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Tomi Pastinen

  • University of Missouri at Kansas City
  • Children’s Mercy Kansas City
  • Children’s Mercy Hospital and Research Institute

External person

Paul B. Lazarow

  • Mount Sinai School of Medicine
  • Icahn School of Medicine at Mount Sinai
  • Dept. of Cell Biology and Anatomy
  • Boston University
  • Department of Biophysics

External person

S. Kaufman

  • National Institutes of Health
  • Laboratory of Neurochemistry

External person

Janet Thomas

  • University of Pittsburgh
  • University of Colorado Denver
  • Department of Pediatrics
  • University of Colorado Anschutz Medical Campus

External person

J. A. Sgro

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • University of California at Davis

External person

Warren A. Cheung

  • Children’s Mercy Kansas City
  • Children’s Mercy Hospital and Research Institute

External person

Tom Curran

  • Children’s Mercy Research Institute

External person

Amy Pizzino

  • University of Pennsylvania
  • Children's National Medical Center
  • Department of Neurology
  • Division of Neurology
  • The Children's Hospital of Philadelphia

External person

Carl Schwendinger-Schreck

  • Children’s Mercy Kansas City
  • Children’s Mercy Hospital and Research Institute

External person

Richard J. Leventer

  • Univ. of Melbourne Dept. of Pediatrics
  • University of Melbourne
  • Royal Children's Hospital Department of Neurology
  • Department of Paediatrics

External person

Abraham Zlotogorski

  • Hebrew University of Jerusalem
  • Hadassah Hebrew University Medical Center
  • Hadassah University Medical Centre
  • Department of Dermatology
  • Department of Dermatology
  • Genetic Studies Section
  • National Institutes of Health

External person

M. E. Jensen

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • University of California at Davis
  • Department of Radiology
  • University of Virginia
  • Department of Radiology and Medical Imaging

External person

M. P. Auada

  • State University of Campinas (Unicamp)
  • State University of Campinas
  • Universidade Estadual de Campinas
  • Department of Internal Medicine

External person

I. Bernardini

  • National Institutes of Health
  • Medical Genetics Branch

External person

Gilad Evrony

  • New York University

External person

Melissa B. Gamble

  • Global Foundation for Peroxisomal Disorders

External person

Genevieve Bernard

  • McGill University
  • Departments of Pediatrics
  • Department of Neurology and Neurosurgery
  • Child Health and Human Development Program
  • Department of Pediatrics
  • Department of Medical Genetics
  • McGill University

External person

R. Jaitly

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • University of California at Davis

External person

Adeline Vanderver

  • George Washington University
  • Children's National Medical Center
  • School of Medicine and Health Services
  • Departments of Neurology
  • Mayo Clinic Rochester, MN
  • Department of Neurology
  • Center for Translational Science
  • University of Pennsylvania
  • Division of Neurology
  • School of Medicine and Health Sciences
  • The Children's Hospital of Philadelphia

External person

Hugo W. Moser

  • Kennedy Krieger Institute
  • Johns Hopkins University
  • Department of Psychiatry and Behavioral Sciences
  • Virginia Commonwealth University
  • The Kennedy Institute
  • Boston University
  • Department of Biophysics

External person

Lyuben N. Marekov

  • National Institutes of Health, Bethesda
  • National Institutes of Health
  • National Institutes of Health
  • Laboratory of Skin Biology
  • Skin Biol. Lab. Natl. Inst. A.

External person

M. B. Puzzi

  • State University of Campinas (Unicamp)
  • State University of Campinas
  • Universidade Estadual de Campinas
  • Department of Internal Medicine

External person

P. M. Elias

  • Duke University
  • University of California at San Francisco
  • Department of Dermatology
  • Department of Dermatology

External person

Michael F. Wangler

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

External person

S. F. Suchy

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics

External person

M. Dalakas

  • National Institutes of Health

External person

Susan H. Black

  • University of Ume
  • Virginia Commonwealth University
  • Umeå University
  • Division of Genetics
  • The Hayward Genetics Center
  • Department of Neurology
  • Department of Human Genetics
  • Department of Pediatrics
  • Eastern Virginia Medical School
  • Department of Clinical Genetics
  • Genetics and IVF Institute
  • Tulane University
  • Department of Neurology
  • Louisiana State University
  • Department of Pediatrics
  • Louisiana State University
  • Louisiana State University Health Sciences Center

External person

Emily Farrow

  • University of Missouri at Kansas City
  • Children’s Mercy Kansas City
  • Children’s Mercy Hospital and Research Institute

External person

Debra J. Boles

  • Department of Human Genetics
  • Virginia Commonwealth University
  • Department of Human Genetics

External person

William A. Gahl

  • National Institutes of Health, Bethesda

External person

Sumit Parikh

  • Cleveland Clinic Children's Hospital
  • Cleveland Clinic Foundation
  • Department of Neurogenetics/Neurometabolism

External person

K. Tabsh

  • UCLA School of Medicine
  • Virginia Commonwealth University
  • University of California at Los Angeles
  • Dept. Obstetrics and Gynecology
  • Department of Pediatrics
  • Department of Pediatrics
  • University of Washington
  • Department of Obstetrics and Gynecology
  • Children’s Medical Center
  • Children’s Medical Center

External person

Isabelle Thiffault

  • University of Missouri at Kansas City
  • Children’s Mercy Kansas City
  • Children’s Mercy Hospital and Research Institute

External person

Francois Mercier

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

Christof Von Kalle

  • German Cancer Research Center
  • Department of Translational Oncology
  • Ontario Institute for Cancer Research

External person

Kenton R. Holden

  • Medical University of South Carolina
  • Greenwood Genetics Center
  • Departments of Neurosciences (Neurology) and Pediatrics

External person

Zohar Argov

  • Hadassah Hebrew University Medical Center
  • Hadassah University Medical Centre
  • Department of Neurology

External person

Eugenio Montini

  • Fondazione Telethon
  • San Raffaele Telethon Institute for Gene Therapy

External person

Gösta Holmgren

  • Division of Genetics
  • The Hayward Genetics Center
  • Umeå University
  • Department of Neurology
  • Department of Human Genetics
  • Department of Pediatrics
  • Eastern Virginia Medical School
  • Department of Clinical Genetics
  • Genetics and IVF Institute
  • Tulane University
  • Department of Neurology
  • Virginia Commonwealth University
  • Louisiana State University
  • Louisiana State University
  • Louisiana State University Health Sciences Center

External person

J. N. Clore

  • Virginia Commonwealth University
  • Div. of Endocrinology and Metabolism
  • Div. of Endocrinology and Metabolism
  • Dept. of Internal Medicine
  • Depts. of Medicine and Pediatrics
  • Departments of Internal Medicine, Surgery, and Pediatrics
  • Div. of Endocrinology and Metabolism
  • Department of Internal Medicine
  • Department of Internal Medicine

External person

Jason Gardner

  • GlaxoSmithKline
  • Regenerative Medicine Discovery Performance Unit
  • Regenerative Medicine Discovery Performance Unit

External person

Carolyn A. Hoffman

  • SSADH Association

External person

M. E. Goldyne

  • VA Medical Center
  • Dermatology Service
  • VA Medical Center
  • University of California at San Francisco
  • Department of Medicine

External person

Davide Tonduti

  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
  • Department of Child Neurology

External person

Jawahir Y. Mohamed

  • King Faisal Specialist Hospital and Research Centre
  • Alfaisal University
  • Department of Genetics
  • King Faisal Specialist Hospital and Research Centre

External person

Carlo Dionisi-Vici

  • Bambino Gesu Hospital
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Department of Laboratory Medicine

External person

Marinette van der Graaf

  • Radboud University Nijmegen

External person

David J. Hamrock

  • National Institutes of Health
  • National Institutes of Health, Bethesda

External person

J. Michael Taylor

  • Maine Medical Center

External person

Cristian Groza

  • McGill University

External person

R. Bradley Troxler

  • University of Alabama at Birmingham
  • Department of Pediatrics

External person

Melissa Samons

  • University of Pittsburgh
  • Women and Children's Hospital of Buffalo

External person

Marsha A. Fraser

  • University of South Florida

External person

Mathew J. Edick

  • University of Pittsburgh
  • Michigan Public Health Institute
  • Michigan Public Health Institute
  • Michigan Public Health Institute

External person

J. G. Edwards

  • Division of Clinical Genetics
  • Dept. of Obstetrics/Gynecology

External person

Barbara K. Burton

  • Michael Reese Hospital
  • University of Pittsburgh
  • Children's Memorial Hospital
  • Medical Center
  • Department of Biochemistry
  • Northwestern University
  • Stellenbosch University

External person

Christopher Joseph

  • Kennedy Krieger Institute
  • The Hugo W. Moser Research Institute

External person

John M. Gomori

  • Hadassah Hebrew University Medical Center
  • Hadassah University Medical Centre
  • Department of Radiology

External person

Gregory Stephanopoulos

  • Massachusetts Institute of Technology

External person

M. R. Rivera-Vega

  • UNAM
  • Universidad Nacional Autónoma de México
  • Servicio de Genética
  • UNAM

External person

Sacha Ferdinandusse

  • University of Amsterdam

External person

Annette Feigenbaum

  • University of California at San Diego

External person

Chin to Fong

  • University of Pittsburgh
  • University of Rochester

External person

Alessandra Biffi

  • San Raffaele Scientific Institute
  • Vita-Salute San Raffaele University
  • Fondazione Telethon
  • TIGET Pediatric Clinical Research Unit
  • Pediatric Immunohematology and Bone Marrow Transplant Unit
  • IRCCS Ospedale San Raffaele
  • San Raffaele Telethon Institute for Gene Therapy
  • San Raffaele Hospital

External person

D. Costakos

  • Division of Clinical Genetics
  • Dept. of Obstetrics/Gynecology

External person

Laura A. Adang

  • University of Pennsylvania
  • Division of Neurology
  • The Children's Hospital of Philadelphia

External person

Michael Churchill

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

Meredith J. Ventura

  • Baylor College of Medicine

External person

Johanna L. Schmidt

  • Children's National Health System
  • Department of Neurology
  • Children's National Medical Center
  • Department of Neurology

External person

Fabrizio Benedicenti

  • Fondazione Telethon
  • San Raffaele Telethon Institute for Gene Therapy

External person

E. L. Sartorato

  • State University of Campinas (Unicamp)
  • Universidade Estadual de Campinas
  • Center of Molecular Biology and Genetic Engineering

External person

O. F. Brouwer

  • Division of Genetics
  • Department of Human Genetics
  • Department of Neurology
  • Virginia Commonwealth University
  • Department of Pediatrics
  • Leiden University

External person

Katie Coakley

  • University of Pittsburgh
  • Emory University

External person

Mousumi Bose

  • Global Foundation for Peroxisomal Disorders
  • Montclair State University
  • Department of Nutrition and Food Studies

External person

Mohamad Hasan Kariminejad

  • Kariminejad-Najmabadi Pathology and Genetics Center
  • Kariminejad-Najmabadi Pathology & Genetics Center

External person

J. G. Thoene

  • National Institutes of Health
  • University of California at San Diego
  • Section on Human Biochemical Genetics Human Genetics Branch
  • Department of Pediatrics
  • University of Michigan, Ann Arbor
  • Departments of Pediatrics and Biological Chemistry
  • Hayward Genetics Center
  • Tulane University

External person

Jean‐Paul ‐P Bonnefont

  • Department of Pediatrics
  • Université Paris 5
  • Université Paris Cité

External person

Jeffrey J. Johnston

  • Children’s Mercy Kansas City

External person

Giovanni Romeo

  • Instituto G Gaslini
  • IARC
  • International Agency for Research on Cancer
  • IRCCS Istituto Giannina Gaslini - Genova
  • University of Bologna
  • International XLP Consortium
  • International XLP Consortium
  • Servizio di Genetica Medica
  • S. Orsola-Malpighi Polyclinic
  • Azienda Ospedaliero-Universitaria di Bologna Policlinico S. Orsola – Malpighi

External person

Simone Leo

  • Distributed Computing Group
  • Sardegna Ricerche

External person

Juniper Lake

  • Pacific Biosciences

External person

Vykuntaraju K. Gowda

  • Indira Gandhi Institute of Child Health

External person

Ishwar C. Verma

  • Sir Ganga Ram Hospital
  • Center of Medical Genetics

External person

Stephanie Keller

  • Emory University
  • Division of Pediatric Neurology

External person

Laura Davis-Keppen

  • University of Pittsburgh
  • Sanford Children's Specialty Clinic
  • Sanford Children's Specialty Clinic
  • University of South Dakota

External person

B. Campbell

  • Laboratory of Cellular Metabolism
  • National Institutes of Health

External person

R. A. Roesel

  • Medical College of Georgia
  • Department of Cell and Molecular Biology
  • Augusta University

External person

Elia Stupka

  • San Raffaele Scientific Institute
  • Vita-Salute San Raffaele University
  • Center for Translational Genomics and BioInformatics
  • IRCCS Ospedale San Raffaele
  • San Raffaele Hospital

External person

Margaret Neville

  • Department of Physiology
  • University of Colorado Denver
  • Univ. of Colorado Health Sci. Ctr.
  • University of Colorado Anschutz Medical Campus

External person

Sue Lipinski

  • University of Pittsburgh
  • University of Michigan, Ann Arbor
  • University of Michigan
  • University of Michigan Health Systems

External person

Pranoot Tanpaiboon

  • Children's National Medical Center
  • Department of Genetics and Metabolism

External person

Joyanna Hansen

  • University of Pittsburgh
  • Oregon Health and Science University

External person

M. D. Koone

  • Duke University
  • Division of Dermatology

External person

Miriam Casiraghi

  • San Raffaele Scientific Institute
  • Fondazione Telethon
  • TIGET Pediatric Clinical Research Unit
  • IRCCS Ospedale San Raffaele
  • San Raffaele Telethon Institute for Gene Therapy
  • Vita-Salute San Raffaele University
  • San Raffaele Hospital

External person

Victor Neduva

  • GlaxoSmithKline
  • Molecular and Cellular Technologies

External person

Melissa L. DiBacco

  • Harvard University
  • Boston Children's Hospital

External person

Roger M. Loria

  • Virginia Commonwealth University
  • Department of Microbiology and Immunology

External person

N. Theroux

  • UCLA School of Medicine
  • University of California at Los Angeles
  • Dept. Obstetrics and Gynecology
  • Department of Pediatrics
  • University of Washington
  • Department of Obstetrics and Gynecology
  • Virginia Commonwealth University
  • Children’s Medical Center
  • Children’s Medical Center

External person

V. Lightner

  • Duke University
  • Division of Dermatology

External person

Nancy Ambrose

  • University of Pittsburgh
  • University of Nebraska
  • University of Nebraska-Lincoln

External person

P. D. Maaswinkel-Mooij

  • Virginia Commonwealth University
  • Division of Genetics
  • Department of Neurology
  • Department of Pediatrics
  • Department of Human Genetics
  • Leiden University
  • Department of Human Genetics
  • Department of Neurology
  • Department of Pediatrics

External person

Barbara Burton

  • University of Pittsburgh
  • Ann and Robert H. Lurie Children's Hospital of Chicago

External person

Elizabeth W. Scadden

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

Daniel M. Portik

  • Pacific Biosciences

External person

Roberto Zori

  • Department of Pediatrics in the College of Medicine
  • University of Florida
  • Department of Pediatrics/Genetics and Metabolism

External person

Shaza N. Al-Holou

  • University of Nebraska Medical Center
  • Thomas Jefferson University

External person

S. R. Pinnell

  • Duke University
  • Division of Dermatology

External person

Elizabeth Dorwart

  • University of Nebraska Medical Center

External person

Arun K. Das

  • School of Medicine
  • University of Michigan, Ann Arbor
  • Department of Biochemistry
  • Boston University
  • Department of Biophysics

External person

Edna Mancilla

  • University of Pennsylvania

External person

Julien Cobert

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

B. Dintiman

  • University of New Mexico
  • Department of Dermatology

External person

Lucia Z. Diaz

  • University of Texas Health Science Center at Houston
  • Department of Dermatology

External person

R. A. Knazek

  • National Institutes of Health

External person

Aaron M. Wenger

  • Pacific Biosciences

External person

J. Zenger-Hain

  • Virginia Commonwealth University
  • Department of Human Genetics

External person

Cristina Baldoli

  • San Raffaele Scientific Institute
  • Vita-Salute San Raffaele University
  • Neuroradiology Unit
  • IRCCS Ospedale San Raffaele
  • San Raffaele Hospital

External person

Fabio Ciceri

  • San Raffaele Scientific Institute
  • Vita-Salute San Raffaele University
  • Pediatric Immunohematology and Bone Marrow Transplant Unit
  • IRCCS Ospedale San Raffaele

External person

Marc C. Patterson

  • Children's National Health System
  • University of Nebraska Medical Center
  • Children's National Medical Center

External person

Christopher T. Saunders

  • Pacific Biosciences

External person

Leonard M. Milstone

  • Yale University
  • Department of Dermatology

External person

J. J. Schlesselman

  • University of California at San Diego
  • Section on Human Biochemical Genetics Human Genetics Branch
  • Department of Pediatrics
  • National Institutes of Health
  • University of Michigan, Ann Arbor
  • Departments of Pediatrics and Biological Chemistry

External person

Attilio Rovelli

  • San Gerardo Hospital
  • University of Milan - Bicocca
  • Pediatric Department
  • Azienda Ospedaliera San Gerardo Monza
  • Pediatric Department

External person

Raul C. Banagale

  • St Luke's Regional Medical Center
  • St. Luke's Regional Medical Center
  • Neonatal Intensive Care Unit

External person

Richard Hall

  • Pacific Biosciences

External person

Narasimhan Nagan

  • Esoterix Genetic Laboratories, LLC
  • Boston University
  • Association for Molecular Pathology Clinical Practice Committee
  • Esoterix Genetic Laboratories, LLC
  • Whole Genome Analysis Working Group
  • Department of Biophysics
  • Whole Genome Analysis Working Group
  • Association for Molecular Pathology

External person

P. Aubourg

  • Myelin Project
  • Institut national de la santé et de la recherche médicale

External person

Konradin Metze

  • State University of Campinas
  • Universidade Estadual de Campinas
  • Department of Pathology
  • National Research Council (CNPq)

External person

Morgan Zabel

  • University of Nebraska Medical Center

External person

Christopher W. Carr

  • University of Mississippi
  • Methodist University Hospital Memphis
  • Le Bonheur Children's Medical Center
  • Department of Medicine
  • Department of Pediatrics
  • Emory University
  • Department of Dermatology
  • Department of Preventive Medicine

External person

Leslie Hollowell

  • Children's National Medical Center
  • Complex Care Program

External person

James C. Diperna

  • Perkin Elmer Genetics

External person

Clare Edano

  • University of Pittsburgh
  • Ann and Robert H. Lurie Children's Hospital of Chicago

External person

Mitchell L. Shiffman

  • Intl. Liver Transplantation Society
  • University of Texas Southwestern Medical Center
  • Virginia Commonwealth University
  • Liver Institute of Virginia
  • Dept. of Internal Medicine
  • Department of Internal Medicine
  • Division of Gastroenterology and Hepatology
  • International Liver Transplantation Society Expert Panel on Liver Transplantation and HCV

External person

Dawn Peck

  • University of Pittsburgh
  • University of Missouri at Kansas City
  • University of Missouri
  • University of Missouri

External person

Heather Talbott

  • University of Nebraska Medical Center
  • Eppley Institute for Research in Cancer
  • Department of Biochemistry and Molecular Biology
  • Department of Obstetrics and Gynecology
  • Olson Center for Women's Health
  • Oregon Health and Science University
  • Nebraska Medicine

External person

Miriam Bloom

  • Children's National Medical Center
  • Complex Care Program
  • Division of Nephrology

External person

Shrikanta Chattophadhyay

  • Massachusetts Institute of Technology

External person

Ann Henderson Tilton

  • University of Ume
  • Umeå University
  • Division of Genetics
  • The Hayward Genetics Center
  • Department of Neurology
  • Department of Human Genetics
  • Department of Pediatrics
  • Eastern Virginia Medical School
  • Department of Clinical Genetics
  • Genetics and IVF Institute
  • Tulane University
  • Department of Neurology
  • Virginia Commonwealth University
  • Louisiana State University
  • Louisiana State University Health Sciences Center
  • Department of Neurology and Pediatrics
  • Louisiana State University

External person

S. Davis

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics
  • Department of Neurology
  • University of California at Davis

External person

Zoheb B. Kazi

  • Duke University
  • Department of Pediatrics
  • Division of Medical Genetics

External person

Johan van Hove

  • University of Colorado Denver
  • Department of Pediatrics
  • University of Colorado Anschutz Medical Campus

External person

Teryn Suhr

  • MLD Foundation

External person

John N. Hutchinson

  • Harvard University

External person

Xiaoying Hou

  • Olson Center for Women's Health
  • Department of Veterans Affairs Medical Center
  • University of Nebraska Medical Center
  • VA Medical Center
  • Olson Center for Women's Health
  • Department of Obstetrics and Gynecology
  • Department of Obstetrics and Gynecology
  • Department of Veterans Affairs
  • Nebraska Medicine

External person

Marta Sabbadini

  • University of California at San Francisco
  • Department of Pediatrics, Genetics

External person

David B. Sykes

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

Craig V. Baker

  • University of Texas Health Science Center at Houston
  • Department of Pediatrics—Division of Medical Genetics
  • University of Nebraska Medical Center

External person

Richard O. Jones

  • Division of Neurogenetics
  • Johns Hopkins University

External person

O. Hurko

  • National Institutes of Health

External person

Jane Kugler

  • Children's Hospital and Medical Center
  • University of Nebraska Medical Center
  • Boys Town National Research Hospital

External person

Joshua L. Bonkowsky

  • University of Utah
  • Division of Pediatric Neurology
  • Department of Pediatrics

External person

I. F. Braun

  • Virginia Commonwealth University
  • Department of Radiology

External person

P. Tortori-Donati

  • Istituto G. Gaslini
  • IRCCS Istituto Giannina Gaslini - Genova
  • Servizio di Neuroradiologia

External person

J. M. Hoeg

  • National Institutes of Health

External person

David Dimmock

  • Baylor College of Medicine
  • University of Pittsburgh
  • Medical College of Wisconsin
  • Department of Molecular and Human Genetics
  • University of California at Irvine
  • Rady Children’s Institute for Genomic Medicine

External person

Rory K. Coleman

  • Montclair State University
  • Department of Nutrition and Food Studies

External person

R. J A Wanders

  • Academic Medical Center
  • University of Amsterdam
  • Departments of Pediatrics Chemistry
  • Amsterdam University Medical Centers

External person

David D. Cuthbertson

  • University of South Florida

External person

Sara Elsbecker

  • University of Pittsburgh
  • University of Minnesota Twin Cities
  • Department of Pediatrics

External person

N. Sakuragawa

  • National Center of Neurology and Psychiatry Kodaira
  • Division of Inherited Metabolic Diseases

External person

Dennis Bartholomew

  • University of Pittsburgh
  • Nationwide
  • Nationwide Children’s Hospital

External person

Alessandro Aiuti

  • University of Rome Tor Vergata
  • University of Rome Tor Vergata
  • Vita-Salute San Raffaele University
  • Fondazione Telethon
  • TIGET Pediatric Clinical Research Unit
  • Pediatric Immunohematology and Bone Marrow Transplant Unit
  • IRCCS Ospedale San Raffaele
  • San Raffaele Telethon Institute for Gene Therapy
  • San Raffaele Hospital

External person

Neerja Gupta

  • All India Institute of Medical Sciences, New Delhi

External person

John Doench

  • Massachusetts Institute of Technology

External person

Emmanuel Scalais

  • Centre Hospitalier Saint Joseph-Espérance ; Rocourt
  • University of Liege
  • Department of Pediatrics

External person

Nalini A L Mehta

  • GlaxoSmithKline
  • Molecular and Cellular Technologies

External person

Jeffrey Chamberlain

  • Baylor College of Medicine
  • University of Michigan
  • University of Michigan, Ann Arbor
  • Institute for Molecular Genetics
  • Department of Human Genetics

External person

Serdal Gungor

  • Inönö University
  • Department of Pediatric Neurology

External person

John C. Browning

  • University of Texas at San Antonio
  • Department of Pediatrics
  • The University of Texas Health Science Center at San Antonio
  • University of Texas Health Science Center at San Antonio

External person

Rani Singh

  • University of Pittsburgh
  • Emory University

External person

Cynthia Cameron

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Cassie Bird

  • University of Pittsburgh
  • Medical College of Wisconsin

External person

R. R. McInnes

  • National Institutes of Health

External person

Alessandro Terrinoni

  • c/o University of Tor Vergata
  • University of Rome Tor Vergata
  • Ist. Dermopatico Dell' Immacolata

External person

R. G. Best

  • Division of Clinical Genetics
  • Dept. of Obstetrics/Gynecology

External person

Ryan Maddock

  • Children's National Medical Center
  • Division of Nephrology

External person

Simone Warrack

  • University of Nebraska Medical Center

External person

Christy Benson

  • Stanley M. Truhlsen Eye Institute
  • Stanley M. Truhlsen Eye Institute
  • Department of Ophthalmology and Visual Science
  • Department of Ophthalmology and Visual Sciences
  • Department of Ophthalmology and Visual Sciences
  • University of Nebraska Medical Center

External person

Ratna D. Puri

  • Sir Ganga Ram Hospital
  • Center of Medical Genetics

External person

Alison McVie-Wylie

  • Sanofi Genzyme
  • Sanofi-Aventis

External person

Neucimar J. Leite

  • State University of Campinas
  • Universidade Estadual de Campinas

External person

Priya S. Kishnani

  • University of Pittsburgh
  • Duke University
  • Department of Pediatrics
  • Division of Medical Genetics

External person

P. D. Kurth

  • National Institutes of Health
  • National Institutes of Health, Bethesda

External person

Francesca Fumagalli

  • Vita-Salute San Raffaele University
  • Fondazione Telethon
  • Neurology Unit
  • IRCCS Ospedale San Raffaele
  • TIGET Pediatric Clinical Research Unit

External person

Mohammed A. Aldahmesh

  • King Faisal Specialist Hospital and Research Centre
  • Alfaisal University
  • Department of Genetics
  • King Faisal Specialist Hospital and Research Centre

External person

Nemat Hashem

  • Ain-Shams Medical Genetics Clinic
  • Ain Shams University
  • Genetic Studies Section
  • National Institutes of Health
  • Ain-Shams Medical Genetics Clinic

External person

Melanie Goff

  • University of Pittsburgh
  • Nationwide

External person

Jessica Scott Schwoerer

  • University of Pittsburgh
  • University of Wisconsin-Madison
  • University of Wisconsin
  • University of Wisconsin
  • University of Wisconsin

External person

Tara Somer

  • University of Nebraska Medical Center

External person

L. G. Biesecker

  • University of Michigan
  • University of Michigan, Ann Arbor
  • Division of Pediatric Genetics
  • National Institutes of Health

External person

Gerald Feldman

  • University of Pittsburgh
  • Children's Hospital of Michigan

External person

Paul A. Watkins

  • Kennedy Krieger Research Institute
  • Kennedy Krieger Institute
  • Virginia Commonwealth University
  • Laboratory of Cellular Metabolism
  • National Institutes of Health

External person

David H. Harter

  • New York University
  • Division of Pediatric Neurosurgery

External person

M. Lee

  • Genetic Studies Section
  • National Institutes of Health

External person

Vasanthi Viswanathan

  • Massachusetts Institute of Technology

External person

David A. Padgett

  • Virginia Commonwealth University
  • Department of Microbiology and Immunology

External person

L. Lagae

  • University of Leuven
  • UZ Gasthuisberg
  • Department of Paediatrics
  • KU Leuven
  • Department of Paediatrics

External person

E. Veneselli

  • Istituto G. Gaslini
  • IRCCS Istituto Giannina Gaslini - Genova
  • Istituto Neuropsichiatria Infantile

External person

Marjo S. van der Knaap

  • Vrije Universiteit Amsterdam
  • Department of Child Neurology
  • Amsterdam UMC / VUMC

External person

Cordelia Orillac

  • New York University
  • Division of Pediatric Neurosurgery

External person

Jean Paul Sacré

  • Sart Tilman University Hospital
  • University of Liege
  • Department of Dermatopathology

External person

David J. Dow

  • GlaxoSmithKline
  • Molecular and Cellular Technologies

External person

Sudeshna Das

  • Massachusetts General Hospital

External person

Nathan H. McNeill

  • Institute of Metabolic Disease, Baylor University Medical Center
  • Baylor Health Care System

External person

Andrea Ballabio

  • Federico II University
  • Baylor College of Medicine
  • University of Naples Federico II
  • University of Toronto
  • University of Toronto
  • Institute for Molecular Genetics
  • Telethon Institute of Genetics and Medicine (TIGEM)
  • Fondazione Telethon
  • Department of Pediatrics
  • Jan and Dan Duncan Neurological Research Institute
  • Department of Pharmacology
  • University of Valencia
  • University of Michigan, Ann Arbor

External person

Maria Grazia Roncarolo

  • Vita-Salute San Raffaele University
  • DNAX Research Institute
  • Vita-Salute San Raffaele University
  • Schering-Plough Biopharma
  • Fondazione Telethon
  • TIGET Pediatric Clinical Research Unit
  • Pediatric Immunohematology and Bone Marrow Transplant Unit
  • IRCCS Ospedale San Raffaele
  • Merck
  • Stanford University
  • San Raffaele Telethon Institute for Gene Therapy
  • San Raffaele Hospital

External person

Giovanna Zambruno

  • IDI-IRCCS
  • IRCCS Istituto Dermopatico dell'Immacolata - Roma
  • Molecular Biology Laboratory

External person

Saleh Jaber

  • Hadassah Hebrew University Medical Center
  • Hadassah University Medical Centre
  • Department of Orthopedics

External person

Jana Mertz

  • Women and Children's Hospital of Buffalo

External person

S. Emami

  • VA Medical Center
  • Dermatology Service
  • VA Medical Center
  • Department of Dermatology
  • University of California at San Francisco

External person

Antoine H.C. Van Kampen

  • University of Amsterdam
  • Amsterdam University Medical Centers

External person

Andrea Calabria

  • Fondazione Telethon
  • San Raffaele Telethon Institute for Gene Therapy

External person

Adrya Stembridge

  • University of Pittsburgh
  • Emory University

External person

George Hoganson

  • University of Pittsburgh

External person

Nancy Smith

  • University of Pittsburgh
  • Johns Hopkins

External person

Richard K. Sterling

  • Virginia Commonwealth University
  • Dept. of Internal Medicine
  • Department of Internal Medicine
  • Division of Gastroenterology and Hepatology

External person

Sandy vanCalcar

  • University of Pittsburgh
  • Oregon Health and Science University

External person

Ubaldo Del Carro

  • San Raffaele Scientific Institute
  • Vita-Salute San Raffaele University
  • Neurology Unit
  • IRCCS Ospedale San Raffaele
  • San Raffaele Hospital

External person

Toshiyuki Mano

  • Osaka University Medical School
  • Osaka University
  • Department of Pediatrics

External person

Mohammadreza Barzgar

  • Skin Research Center, Shahid Beheshti University of Medical Sciences

External person

Ariana Kariminejad

  • Kariminejad-Najmabadi Pathology and Genetics Center
  • Kariminejad-Najmabadi Pathology & Genetics Center
  • Kariminejad-Najmabadi Pathology and Genetics Center

External person

Taraka R. Donti

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

External person

Nicole Jaffe

  • University of Pennsylvania
  • Department of Pediatrics
  • The Children's Hospital of Philadelphia

External person

Shaohui Zhai

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Crystal Sung

  • Sanofi Genzyme

External person

Natasha Shur

  • Pediatrics Genetics Group
  • Albany Medical College

External person

Eveline Teresa Hidalgo

  • New York University
  • Division of Pediatric Neurosurgery

External person

Jonathan C. Allen

  • University of Colorado Denver
  • University of Colorado Anschutz Medical Campus

External person

Haya Herscovitz

  • Boston University
  • Department of Biophysics
  • Department of Biophysics

External person

Sakir Altunbasak

  • Cukurova University Medical Faculty
  • Cukurova University
  • Department of Pediatric Neurology

External person

Jennie Wilkins

  • University of Pittsburgh
  • West Virginia University

External person

Thomas Langan

  • Hunter James Kelly Research Institute
  • SUNY Buffalo

External person

Dwight D. Koeberl

  • University of Pittsburgh
  • Duke University

External person

Shu Wei

  • University of Nebraska Medical Center

External person

Melissa Contos

  • University of Texas Southwestern Medical Center
  • Virginia Commonwealth University
  • University of Texas Southwestern Medical Center
  • Dept. of Internal Medicine
  • Department of Pathology
  • Department of Pathology
  • Department of Pathology

External person

J. E. Carroll

  • Medical College of Georgia
  • Department of Neurology
  • Division of Intensive Care
  • Augusta University

External person

Marjolein Breur

  • Vrije Universiteit Amsterdam
  • Amsterdam UMC / VUMC

External person

Terri Love

  • Children's Hospital & Medical Center
  • University of Nebraska Medical Center

External person

Andrew Hersh

  • New York University
  • Division of Pediatric Neurosurgery

External person

Ashley Swan

  • University of Pittsburgh
  • Medical College of Wisconsin

External person

S. L. Blethen

  • State University of New York
  • Stony Brook University
  • Department of Pediatrics

External person

A. B. Mukherjee

  • National Institutes of Health

External person

Sarah Hainline

  • University of Pittsburgh
  • Indiana University Bloomington

External person

Johannes Zschocke

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Gabriele Richard

  • GeneDx
  • GeneDx Inc
  • Thomas Jefferson University
  • GeneDx, Inc.
  • GeneDX Inc
  • Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine
  • OPKO Health, Inc.

External person

Kevin Larimore

  • BioMarin Pharmaceutical Inc.

External person

Richard Erbe

  • University of Pittsburgh
  • Women and Children's Hospital of Buffalo

External person

David J. Logan

  • Massachusetts Institute of Technology

External person

Sten Jagell

  • University of Ume
  • Umeå University
  • Division of Genetics
  • The Hayward Genetics Center
  • Department of Neurology
  • Department of Human Genetics
  • Department of Pediatrics
  • Eastern Virginia Medical School
  • Department of Clinical Genetics
  • Genetics and IVF Institute
  • Tulane University
  • Department of Neurology
  • Virginia Commonwealth University
  • Louisiana State University
  • Louisiana State University
  • Louisiana State University Health Sciences Center

External person

Leroy Hubert

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

External person

Hana M. Mansur

  • Montclair State University

External person

Sheela Shrestha

  • University of Pittsburgh
  • Ann and Robert H. Lurie Children's Hospital of Chicago

External person

Sonja Henry

  • University of Pittsburgh
  • University of Wisconsin-Madison
  • University of Wisconsin

External person

Langston Sherry

  • Ochsner Health System
  • Ochsner Health System

External person

Sheela Nampoothiri

  • Amrita Vishwa Vidyapeetham

External person

Moona Khoury

  • Carmel Medical Center
  • Department of Internal Medicine

External person

Orli Rosen

  • BioMarin Pharmaceutical Inc.

External person

Ankit K. Desai

  • Duke University
  • Department of Pediatrics
  • Division of Medical Genetics

External person

D. Levisohn

  • University of New Mexico
  • Department of Dermatology

External person

Ed Siefker

  • Creighton University
  • Department of Surgery
  • University of Nebraska Medical Center

External person

C. Borrone

  • Istituto G. Gaslini
  • IRCCS Istituto Giannina Gaslini - Genova

External person

Debra A. Crumrine

  • University of California at San Francisco
  • Department of Dermatology

External person

Cynthia A. Cameron

  • University of Pittsburgh
  • Michigan Public Health Institute
  • Michigan Public Health Institute
  • Michigan Public Health Institute

External person

Michaela Odone

  • Myelin Project

External person

Emily A. Khoury

  • University of Nebraska Medical Center

External person

Ryan J. Taft

  • Children's National Health System
  • George Washington University
  • School of Medicine and Health Services
  • Institute for Molecular Bioscience
  • Illumina, Inc.
  • University of Queensland
  • Children's National Medical Center
  • School of Medicine and Health Sciences
  • University of Queensland, Institute for Molecular Bioscience

External person

Georgianne L. Arnold

  • University of Pittsburgh
  • Department of Pediatrics

External person

Theresa Hart

  • University of Pittsburgh
  • University of Rochester

External person

Michèl A.A.P. Willemsen

  • Radboud University Nijmegen

External person

Gregory S. Heard

  • Virginia Commonwealth University
  • Depts. of Pathol. and Human Genetics

External person

G. V. Raymond

  • University of Minnesota Twin Cities
  • Department of Neurology
  • Kennedy Krieger Institute
  • Harvard University
  • Department of Neurology
  • Massachusetts General Hospital

External person

William J. Rowell

  • Pacific Biosciences

External person

Lauren Dwyer

  • University of Pittsburgh
  • University of Illinois at Urbana-Champaign
  • University of Illinois

External person

Susan Richards

  • Sanofi Genzyme
  • Sanofi-Aventis

External person

Gölen G. Mert

  • Cukurova University
  • Department of Pediatric Neurology

External person

Sabrina Canale

  • San Raffaele Scientific Institute
  • Fondazione Telethon
  • TIGET Pediatric Clinical Research Unit
  • IRCCS Ospedale San Raffaele
  • San Raffaele Telethon Institute for Gene Therapy
  • Vita-Salute San Raffaele University
  • San Raffaele Hospital

External person

P. Brosnan

  • Driscoll Children's Hospital

External person

Mohan Rajeshwari

  • Madurai Kamaraj University

External person

Alyssa Cady Keller

  • University of Nebraska Medical Center

External person

Alvaro Serrano Russi

  • University of Pittsburgh
  • University of Iowa

External person

M. E. Blanco-Aguirre

  • Servicio de Genética
  • Universidad Nacional Autónoma de México
  • UNAM

External person

Edward R B McCabe

  • Baylor College of Medicine
  • Institute for Molecular Genetics
  • Lillie Frank Abercrombie Section of Cardiology

External person

Laura Ball

  • Center for Translational Science
  • Children's National Medical Center
  • Department of Physical Medicine and Rehabilitation

External person

Rebecca Loman

  • University of Pittsburgh
  • Sanford Children's Specialty Clinic
  • Sanford Children's Specialty Clinic

External person

Alexandra M. Joseph

  • Sanofi Genzyme
  • Sanofi-Aventis

External person

Kara Goodin

  • University of Pittsburgh
  • University of Louisville

External person

Aimee C. Smidt

  • University of New Mexico
  • Department of Dermatology and Pediatrics

External person

Donna DiVito

  • University of Pennsylvania
  • Division of Neurology
  • The Children's Hospital of Philadelphia

External person

Guillaume Bourque

  • McGill University
  • Kyoto University

External person

Kiley Morgart

  • Kennedy Krieger Institute
  • Psychiatric Social Work Program

External person

Luigi Naldini

  • Vita-Salute San Raffaele University
  • Vita-Salute San Raffaele University
  • Fondazione Telethon
  • San Raffaele Telethon Institute for Gene Therapy

External person

J. P. Fryns

  • University Hospital Gasthuisberg
  • UZ Gasthuisberg
  • KU Leuven
  • Centre for Human Genetics

External person

Martin Giera

  • Leiden University

External person

Machelle Dawson

  • University of Pittsburgh
  • University of Nebraska
  • University of Nebraska-Lincoln

External person

Dean Suhr

  • MLD Foundation

External person

Julie R. Secor McVoy

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics

External person

Bita Bozorgmehr

  • Kariminejad-Najmabadi Pathology and Genetics Center
  • Kariminejad-Najmabadi Pathology & Genetics Center

External person

Bryan Hainline

  • University of Pittsburgh
  • Indiana University Bloomington

External person

Gert Van Goethem

  • University of Antwerp

External person

Byunggil Yoo

  • Children’s Mercy Kansas City

External person

Faridoddin Mirshahi

  • Virginia Commonwealth University
  • Dept. of Internal Medicine
  • Department of Internal Medicine
  • Division of Gastroenterology and Hepatology

External person

R. D. Azulay

  • Santa Casa de Misericórdia do Rio de Janeiro

External person

F. R. Brown

  • Johns Hopkins University

External person

Erin Prange

  • University of Pennsylvania
  • Division of Neurology
  • The Children's Hospital of Philadelphia

External person

M. Anitia Jennings

  • University of Nebraska Medical Center

External person

Mehmet N. Ozbek

  • Diyarbakir State Children Hospital
  • Department of Pediatric Endocrinology

External person

D. F. Barker

  • Genetic Epidemiology, University of Utah
  • University of Utah
  • Genetic Epidemiology

External person

Dongjun Lee

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

Andrea Codispoti

  • c/o University of Tor Vergata
  • University of Rome Tor Vergata
  • Ist. Dermopatico Dell' Immacolata

External person

Ayesha Ahmad

  • University of Pittsburgh
  • University of Michigan, Ann Arbor
  • University of Michigan
  • University of Michigan Health Systems

External person

Susan Berry

  • University of Pittsburgh
  • University of Minnesota Twin Cities

External person

Mingjin Li

  • BioMarin Pharmaceutical Inc.

External person

D. Cranin

  • Depts. of Pediat. and Human Genetics
  • Virginia Commonwealth University

External person

Marcus Fruttiger

  • University College London

External person

Juliana Trafrova

  • State University of New York
  • Stony Brook University
  • Department of Oral Biology and Pathology

External person

Melinda Dodge

  • University of Pittsburgh
  • University of Colorado Denver

External person

N. M. Verhoeven

  • Free University Hospital Amsterdam
  • Vrije Universiteit Amsterdam
  • Department of Clinical Chemistry
  • Amsterdam UMC / VUMC

External person

James W. Patterson

  • Virginia Commonwealth University

External person

J. G. Hacia

  • University of Southern California
  • Institute for Genetic Medicine
  • Department of Biochemistry and Molecular Biology
  • Department of Biochemistry and Molecular Biology
  • Department of Biochemistry and Molecular Biology

External person

Robert C. King

  • Program in Plant Biology and Conservation
  • Northwestern University

External person

Fowzan S. Alkuraya

  • Alfaisal University
  • King Faisal Specialist Hospital and Research Centre
  • King Khalid University
  • Department of Genetics
  • Department of Anatomy and Cell Biology
  • Department of Pediatrics
  • King Saud University
  • Department of Genetics
  • King Faisal Specialist Hospital and Research Centre

External person

Shona Gupta

  • Virginia Commonwealth University
  • Div. of Endocrinology and Metabolism

External person

Alexander Asamoah

  • University of Pittsburgh
  • University of Louisville

External person

Ayelet Zerem

  • Edith Wolfson Medical Center Israel

External person

Oded Abramsky

  • Hadassah Hebrew University Medical Center
  • Hadassah University Medical Centre
  • Department of Neurology

External person

K. Holbrook

  • UCLA School of Medicine
  • University of California at Los Angeles
  • Dept. Obstetrics and Gynecology
  • Department of Pediatrics
  • University of Washington
  • Department of Obstetrics and Gynecology
  • Virginia Commonwealth University
  • Children’s Medical Center
  • Children’s Medical Center

External person

Maria Escolar

  • University of Pittsburgh
  • Department of Pediatrics
  • Department of Pediatrics

External person

Clelia Di Serio

  • Vita-Salute San Raffaele University
  • Vita-Salute San Raffaele University

External person

D. A. Hahn

  • Medical College of Georgia
  • Division of Intensive Care
  • Augusta University

External person

Daniel W. Denman

  • University of California at San Diego
  • National Institutes of Health
  • University of Michigan, Ann Arbor

External person

Alexander Lossos

  • Hadassah University Hospital
  • Hadassah University Medical Centre
  • Department of Neurology

External person

Georgianne Arnold

  • University of Pittsburgh

External person

L. L. Judd

  • Virginia Commonwealth University
  • Depts. of Pediat. and Human Genetics

External person

T. S. Aguiar

  • Santa Casa de Misericórdia do Rio de Janeiro

External person

Kaitlyn P. Pellegrino

  • Children's Hospital and Medical Center
  • University of Nebraska Medical Center

External person

John C. Means

  • Children’s Mercy Kansas City

External person

Sangeetha Lakshman

  • University of Pittsburgh
  • Emory University

External person

Scott T. Younger

  • University of Missouri at Kansas City
  • Children’s Mercy Kansas City

External person

A. J. Jonas

  • University of California at San Diego
  • Section on Human Biochemical Genetics Human Genetics Branch
  • Department of Pediatrics
  • National Institutes of Health
  • University of Michigan, Ann Arbor
  • Departments of Pediatrics and Biological Chemistry

External person

Matthias Schmuth

  • Innsbruck Medical University

External person

Kathleen Davis

  • University of Nebraska Medical Center

External person

Michelle Kompare

  • University of Nebraska Medical Center

External person

Jean R. Pickford

  • Foundation for Ichthyosis and Related Skin Types

External person

M. Katharine Rudd

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

External person

Moise L. Levy

  • Dell
  • Pediatric Dermatology

External person

Kristi Bentler

  • University of Pittsburgh
  • Minnesota Department of Health

External person

Tara Chandra Narumanchi

  • University of Pittsburgh
  • West Virginia University

External person

Maria Sessa

  • Fondazione Telethon
  • Neurology Unit
  • IRCCS Ospedale San Raffaele
  • TIGET Pediatric Clinical Research Unit
  • San Raffaele Telethon Institute for Gene Therapy
  • Vita-Salute San Raffaele University
  • San Raffaele Hospital

External person

Loren D M Pena

  • University of Pittsburgh
  • Duke University

External person

Vionnie W.C. Yu

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

M. P. Somers

  • Virginia Commonwealth University
  • Departments of Human Genetics

External person

Shanthi Rangaswamy

  • Boston University
  • Department of Biophysics
  • Department of Biophysics

External person

Sara A. Elsbecker

  • University of Pittsburgh
  • University of Minnesota Twin Cities
  • Department of Pediatrics

External person

C. E. Steiner

  • State University of Campinas (Unicamp)
  • Universidade Estadual de Campinas
  • Department of Medical Genetics

External person

Margaret Gibson

  • Children’s Mercy Kansas City

External person

Tina K. Truong

  • New York University

External person

Sabrinamalone Jenkens

  • University of Nebraska Medical Center

External person

Jean‐Marie ‐M Saudubray

  • Department of Pediatrics
  • Université Paris 5
  • Université Paris Cité

External person

Borja Saez

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

Claudio Bordignon

  • MolMed
  • Vita-Salute San Raffaele University
  • MolMed S.p.A.

External person

Zachary Bailey

  • University of Nebraska Medical Center

External person

William K. Seltzer

  • University of Colorado Denver
  • Department of Pediatrics and Department of Biochemistry, Biophysics and Genetics
  • University of Colorado Anschutz Medical Campus
  • University of Colorado School of Medicine

External person

Boryana Koseva

  • Children’s Mercy Kansas City

External person

Jacque Waggoner

  • Hunter's Hope Foundation

External person

J. R. Dave

  • National Institutes of Health

External person

Jeffrey A. Towbin

  • Institute for Molecular Genetics
  • Baylor College of Medicine
  • Department of Pediatric Cardiology
  • Lillie Frank Abercrombie Section of Cardiology
  • Heart Institute
  • University of Cincinnati
  • Department of Pediatrics
  • Cincinnati Children's Hospital Medical Center
  • Le Bonheur Children's Medical Center
  • University of Tennessee Health Science Center

External person

P. Edward Purdue

  • Hospital for Special Surgery - New York
  • Hospital for Special Surgery
  • Mount Sinai School of Medicine
  • Icahn School of Medicine at Mount Sinai
  • University of Nebraska Medical Center
  • Dept. of Cell Biology and Anatomy

External person

Martina Cesani

  • Fondazione Telethon
  • San Raffaele Telethon Institute for Gene Therapy

External person

Lars Bullinger

  • Charité – Universitätsmedizin Berlin

External person

Mark A. Keibler

  • Massachusetts Institute of Technology

External person

Eyal Banin

  • Hadassah Hebrew University Medical Center
  • Hadassah University Medical Centre
  • Department of Ophthalmology

External person

T. van der Zalm

  • Gracewood State School and Hospital
  • Medical College of Georgia
  • Department of Radiology
  • Augusta University

External person

Lawrence Tamarkin

  • National Institutes of Health

External person

Priya S. Kishnani

  • Duke University
  • Duke University Medical Center
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Medical Genetics
  • University of Pittsburgh

External person

Randall L. Adam

  • State University of Campinas
  • Universidade Estadual de Campinas

External person

Loren S. Jack

  • Stanley M. Truhlsen Eye Institute
  • University of Nebraska Medical Center
  • Stanley M. Truhlsen Eye Institute
  • Stanley M. Truhlsen Eye Institute
  • Department of Ophthalmology and Visual Science
  • Ocular Imaging Reading and Research Center
  • Department of Ophthalmology and Visual Sciences
  • Department of Ophthalmology and Visual Sciences
  • Nebraska Medicine

External person

Biagio Didona

  • IDI-IRCCS
  • IRCCS Istituto Dermopatico dell'Immacolata - Roma
  • I Dermatology Division

External person

Nancy B. Esterly

  • Medical College of Wisconsin
  • Thomas Jefferson University
  • Department of Pediatrics
  • Children’s Hospital Milwaukee

External person

C. Medina

  • IMSS
  • CM de Occidente
  • Servicio de Genética, CM de Occidente

External person

Bram Heijs

  • Leiden University

External person

K. S. Roth

  • Virginia Commonwealth University
  • Department of Pediatrics
  • Division of Genetics

External person

Marybeth Hummel

  • University of Pittsburgh
  • West Virginia University

External person

R. K. Abramson

  • Division of Clinical Genetics

External person

Kaitlin Justice

  • University of Pittsburgh
  • Michigan Public Health Institute
  • Michigan Public Health Institute
  • Michigan Public Health Institute

External person

Rushdia Zareen Yusuf

  • Harvard University
  • Massachusetts General Hospital Cancer Center

External person

S. Yamaguchi

  • Gifu University

External person

Qin Sun

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

External person

G. R. Van Loon

  • Department of Medicine
  • University of Kentucky
  • Department of Veterans Affairs

External person

Luca Biasco

  • Fondazione Telethon
  • San Raffaele Telethon Institute for Gene Therapy

External person

Melisa J. Lopez

  • Global Foundation for Peroxisomal Disorders

External person

Cecilia Rajakaruna

  • University of Pittsburgh
  • University of Louisville

External person

Ana S.A. Cohen

  • University of Missouri at Kansas City
  • Children’s Mercy Kansas City

External person

Ron A. Wevers

  • Radboud University Nijmegen

External person

Elin Grundberg

  • University of Missouri at Kansas City
  • Children’s Mercy Kansas City

External person

Reetu Singh

  • Madurai Kamaraj University

External person

Kristin D'Aco

  • University of Pittsburgh
  • University of Rochester

External person

James F. Nigro

  • Baylor College of Medicine
  • Medical College of Wisconsin
  • Dept. of Pediatrics and Dermatology
  • Texas Children's Hospital Houston

External person

Stuart L. Schreiber

  • Broad Institute
  • Harvard University
  • Center for the Science of Therapeutics
  • Department of Chemistry and Chemical Biology
  • Probe Development Center
  • Massachusetts Institute of Technology
  • Probe Development Center
  • Center for the Science of Therapeutics

External person

Cristina Pedicelli

  • IDI-IRCCS
  • IRCCS Istituto Dermopatico dell'Immacolata - Roma
  • VII Dermatology Division

External person

Mathew J. Edick

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Nabil Kabbara

  • Rafic Hariri University Hospital
  • Lebanese University
  • Pediatric Hematology Oncology Division
  • Rafik Hariri University

External person

Manuel J. Santos

  • Mount Sinai School of Medicine
  • Icahn School of Medicine at Mount Sinai
  • Dept. of Cell Biology and Anatomy
  • Boston University
  • Department of Biophysics

External person

Pan Zhang

  • University of Nebraska Medical Center
  • VA Medical Center
  • Department of Obstetrics and Gynecology
  • Olson Center for Women's Health
  • Department of Obstetrics and Gynecology
  • Department of Veterans Affairs
  • Nebraska Medicine

External person

Joy M. Seacat

  • University of Colorado Denver
  • University of Colorado Anschutz Medical Campus

External person

Sarah H. Elsea

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

External person

Eric Heinz

  • Virginia Commonwealth University

External person

Jay Shapiro

  • Kennedy Krieger Institute
  • The Hugo W. Moser Research Institute

External person

Mary Karpinski

  • Women and Children's Hospital of Buffalo
  • Pediatric Multiple Sclerosis Center

External person

Siddhartha Mukherjee

  • Harvard University
  • Columbia University
  • Massachusetts General Hospital Cancer Center

External person

Adam F. Johnson

  • Children’s Mercy Kansas City

External person

Karen P. Hanley

  • Department of Dermatology
  • University of California at San Francisco

External person

Emily Phillips

  • University of Pittsburgh
  • University of Iowa

External person

M. Filocamo

  • Istituto G. Gaslini
  • IRCCS Istituto Giannina Gaslini - Genova

External person

Diane Africk

  • University of Ume
  • Umeå University
  • Division of Genetics
  • The Hayward Genetics Center
  • Department of Neurology
  • Department of Human Genetics
  • Department of Pediatrics
  • Eastern Virginia Medical School
  • Department of Clinical Genetics
  • Genetics and IVF Institute
  • Tulane University
  • Department of Neurology
  • Virginia Commonwealth University
  • Louisiana State University
  • Louisiana State University
  • Louisiana State University Health Sciences Center

External person

Arun J. Sanyal

  • Virginia Commonwealth University
  • Department of Medicine
  • Dept. of Internal Medicine
  • Department of Internal Medicine
  • Division of Infectious Diseases
  • Department of Internal Medicine
  • Division of Gastroenterology and Hepatology
  • Massey Cancer Center
  • Department of Medicine

External person

Howard L. Weiner

  • New York University
  • Division of Pediatric Neurosurgery

External person

R. W. Sawyer

  • Virginia Commonwealth University
  • Department of Radiology

External person

Kim C. Worley

  • 2471TAMU
  • Baylor College of Medicine
  • Texas A&M University
  • Human Genome Sequencing Center
  • Department of Molecular and Human Genetics
  • Institute for Molecular Genetics
  • Department of Animal Science
  • Department of Molecular and Human Genetics

External person

Fang Qiu

  • Biostatistics Department
  • 984375 Nebraska Medical Center
  • University of Nebraska
  • University of Nebraska Medical Center
  • Biostatistics Department
  • College of Public Health
  • College of Public Health
  • Department of Biostatistics
  • Department of Biostatistics
  • Department of Biostatistics
  • Department of Biostatistics
  • College of Public Health
  • Department of Pathology and Microbiology
  • Department of Ophthalmology and Visual Sciences
  • Department of Biostastics
  • Department of Biostatistics
  • College of Public Health
  • Experimental Immunology, Research in Cardiovascular Disease Laboratory
  • University of Nebraska Omaha
  • Children's Hospital
  • Department of Biostatistics Division
  • College of Public Health
  • College of Medicine
  • Nebraska Medicine

External person

Varunvenkat M. Srinivasan

  • Indira Gandhi Institute of Child Health

External person

J. Vockley

  • Mayo Clinic Rochester, MN
  • University of Pittsburgh
  • Department of Medical Genetics
  • Department of Pediatrics
  • Department of MedicalGenetics
  • Greenwood Genetics Center

External person

Kristi Bentler

  • University of Pittsburgh
  • Minnesota Department of Health

External person

Celeste Decker

  • BioMarin Pharmaceutical Inc.

External person

Pippa Staps

  • Radboud University Nijmegen

External person

Hanna Rosenmann

  • Hadassah Hebrew University Medical Center
  • Hadassah University Medical Centre
  • Department of Neurology

External person

Enrico Bertini

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • Department of Laboratory Medicine

External person

Maximilian Weustenfeld

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Marianne R. Neifert

  • University of Colorado Denver
  • University of Colorado Anschutz Medical Campus

External person

Krystal Baumert

  • Department of Health and Human Services

External person

Carol Campbell-Sargent

  • Virginia Commonwealth University
  • Dept. of Internal Medicine
  • Department of Internal Medicine
  • Division of Gastroenterology and Hepatology

External person

Seymour Packman

  • University of Iowa
  • University of Iowa
  • Department of Pediatrics
  • University of California at San Francisco
  • Department of Pediatrics, Genetics
  • Department of Pediatrics

External person

Dmitriy M. Niyazov

  • Ochsner Health System
  • Ochsner Health System

External person

Cherrie Huang

  • Massachusetts Institute of Technology

External person

Alain Verloes

  • Centre for Human Genetics, Liège University, Centre Hospitalier Saint Joseph-Espérance ; Rocourt
  • University of Liege
  • Hôpital Robert Debré AP-HP

External person

Hisham S. Alkuraya

  • King Fahad National Guard Hospital
  • King Fahd National Guard Hospital
  • King Faisal Specialist Hospital and Research Centre
  • Division of Ophthalmology
  • Department of Genetics
  • Alfaisal University
  • Ministry of National Guard – Health Affairs
  • King Faisal Specialist Hospital and Research Centre

External person

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