William B Rizzo, MD

  • 6004 Citations
  • 35 h-Index
1977 …2020

Research output per year

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Network

Donny W Suh, MD

Person: Member, Academic, Clinician

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

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

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

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

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

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

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

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

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

Braverman, Nancy E.

  • McGill University
  • Departments of Human Genetics and Pediatrics
  • Research Institute of the McGill University Health Center

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

S'Aulis, Dana

  • University of Nebraska Medical Center

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

J. Li

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

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

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

William A. Gahl

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

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

Cintra, M. L.

  • 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

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

Herguner, Ozlem M.

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

External person

Goodwin, Jennifer L.

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

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

Mousumi Bose

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

External person

Incecik, Faruk

  • 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

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

Samiksha Fouzdar-Jain

  • Children's Hospital and Medical Center
  • Department of Pediatric Ophthalmology
  • University of Nebraska Medical Center
  • Department of Ophthalmology and Visual Sciences
  • Children's Hospital & Medical Center

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

Wilhelm Zuelzer

  • Department of Internal Medicine
  • Virginia Commonwealth University
  • Div. of Endocrinology and Metabolism

External person

S. Kaufman

  • National Institutes of Health
  • Laboratory of Neurochemistry

External person

Thomas, Janet

  • University of Pittsburgh
  • University of Colorado Denver
  • Department of Pediatrics

External person

J. A. Sgro

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

External person

Amy Pizzino

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

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

Gawron, Kelly

  • Department of Nutrition and Food Studies
  • Montclair State University

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

Auada, M. P.

  • 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

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
  • Research Institute of the McGill University Health Center

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

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

Puzzi, M. B.

  • 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

External person

Debra J. Boles

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

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

Christof Von Kalle

  • German Cancer Research Center
  • Department of Translational Oncology

External person

Kenton R. Holden

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

External person

Argov, Zohar

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

External person

Montini, Eugenio

  • Fondazione Telethon

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

External person

Gardner, Jason

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

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

External person

Dionisi-Vici, Carlo

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

External person

R. Bradley Troxler

  • University of Alabama at Birmingham
  • Department of Pediatrics

External person

Samons, Melissa

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

External person

Mathew J. Edick

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

External person

J. G. Edwards

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

External person

Brian J. Corden

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

External person

Barbara K. Burton

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

External person

Christopher Joseph

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

External person

James W. Patterson

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

External person

Gomori, John M.

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

External person

M. R. Rivera-Vega

  • UNAM
  • Universidad Nacional Autonoma de Mexico
  • Servicio de Genética

External person

Annette Feigenbaum

  • University of California at San Diego

External person

Fong, Chin to

  • University of Pittsburgh
  • University of Rochester

External person

Biffi, Alessandra

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

External person

D. Costakos

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

External person

Laura A. Adang

  • University of Pennsylvania
  • Division of Neurology

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

Benedicenti, Fabrizio

  • Fondazione Telethon

External person

Sartorato, E. L.

  • 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

Coakley, Katie

  • 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

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

External person

Simone Leo

  • Distributed Computing Group
  • Sardegna Ricerche

External person

Verma, Ishwar C.

  • Sir Ganga Ram Hospital
  • Center of Medical Genetics

External person

Stephanie Keller

  • Emory University
  • Division of Pediatric Neurology

External person

Davis-Keppen, Laura

  • University of Pittsburgh
  • Sanford Children's Specialty Clinic

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

Stupka, Elia

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

External person

Margaret Neville

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

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

Hansen, Joyanna

  • University of Pittsburgh
  • Oregon Health and Science University

External person

M. D. Koone

  • Duke University
  • Division of Dermatology
  • Duke University Medical Center

External person

Casiraghi, Miriam

  • San Raffaele Scientific Institute
  • Fondazione Telethon
  • TIGET Pediatric Clinical Research Unit

External person

Neduva, Victor

  • GlaxoSmithKline
  • Molecular and Cellular Technologies

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
  • Duke University Medical Center

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

Burton, Barbara

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

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

External person

S. R. Pinnell

  • Duke University
  • Division of Dermatology
  • Duke University 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

B. Dintiman

  • University of New Mexico
  • Department of Dermatology

External person

Diaz, Lucia Z.

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

External person

R. A. Knazek

  • National Institutes of Health

External person

J. Zenger-Hain

  • Virginia Commonwealth University
  • Department of Human Genetics

External person

Baldoli, Cristina

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

External person

Ciceri, Fabio

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

External person

Marc C. Patterson

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

External person

Milstone, Leonard M.

  • 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

Banagale, Raul C.

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

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

Metze, Konradin

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

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

Schules, Dana R.

  • Montclair State University
  • Department of Nutrition and Food Studies

External person

Edano, Clare

  • 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

Peck, Dawn

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

External person

Miriam Bloom

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

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

L. Tamarkin

  • National Institutes of Health

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
  • Duke University Medical Center
  • Division of Medical Genetics

External person

van Hove, Johan

  • University of Colorado Denver
  • Department of Pediatrics

External person

Teryn Suhr

  • MLD Foundation

External person

Keller, Markus A.

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Sabbadini, Marta

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

External person

Baker, Craig V.

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

External person

Jones, Richard O.

  • Division of Neurogenetics
  • Johns Hopkins University

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

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

Coleman, Rory K.

  • 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

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

Bartholomew, Dennis

  • University of Pittsburgh
  • Nationwide

External person

Aiuti, Alessandro

  • 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 San Raffaele Scientific Institute

External person

Gupta, Neerja

  • All India Institute of Medical Sciences

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

Gungor, Serdal

  • Inönö University
  • Department of Pediatric Neurology

External person

Browning, John C.

  • University of Texas at San Antonio
  • Department of Pediatrics

External person

Singh, Rani

  • University of Pittsburgh
  • Emory University

External person

Cameron, Cynthia

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Bird, Cassie

  • University of Pittsburgh
  • Medical College of Wisconsin

External person

R. R. McInnes

  • National Institutes of Health

External person

Terrinoni, Alessandro

  • 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

Benson, Christy

  • 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

Puri, Ratna D.

  • Sir Ganga Ram Hospital
  • Center of Medical Genetics

External person

Alison McVie-Wylie

  • Sanofi Genzyme
  • Sanofi-Aventis

External person

Leite, Neucimar J.

  • State University of Campinas
  • Universidade Estadual de Campinas

External person

Priya S. Kishnani

  • University of Pittsburgh
  • Duke University
  • Department of Pediatrics
  • Duke University Medical Center
  • 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 San Raffaele Scientific Institute
  • TIGET Pediatric Clinical Research Unit

External person

Mohammed A. Aldahmesh

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

External person

Nemat Hashem

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

External person

Goff, Melanie

  • 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

Somer, Tara

  • 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

Feldman, Gerald

  • 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

Harter, David H.

  • New York University
  • Division of Pediatric Neurosurgery

External person

M. Lee

  • Genetic Studies Section
  • National Institutes of Health

External person

O. Hurko

  • National Institutes of Health

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

External person

Orillac, Cordelia

  • New York University
  • Division of Pediatric Neurosurgery

External person

Jean Paul Sacré

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

External person

Dow, David J.

  • GlaxoSmithKline
  • Molecular and Cellular Technologies

External person

Gibson, K. Michael

  • Department of Pharmacotherapy
  • Washington State University Spokane

External person

McNeill, Nathan H.

  • Institute of Metabolic Disease, Baylor University Medical Center
  • Baylor University Medical Center at Dallas

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

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 San Raffaele Scientific Institute
  • Merck

External person

Zambruno, Giovanna

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

External person

Jaber, Saleh

  • 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

Calabria, Andrea

  • Fondazione Telethon

External person

Stembridge, Adrya

  • University of Pittsburgh
  • Emory University

External person

Hoganson, George

  • University of Pittsburgh

External person

Smith, Nancy

  • 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

vanCalcar, Sandy

  • University of Pittsburgh
  • Oregon Health and Science University

External person

Del Carro, Ubaldo

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

External person

Toshiyuki Mano

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

External person

Barzgar, Mohammadreza

  • 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

External person

Zhai, Shaohui

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Sung, Crystal

  • Sanofi Genzyme

External person

Shur, Natasha

  • Pediatrics Genetics Group
  • Albany Medical College

External person

Hidalgo, Eveline Teresa

  • New York University
  • Division of Pediatric Neurosurgery

External person

Jonathan C. Allen

  • University of Colorado Denver

External person

Haya Herscovitz

  • Boston University
  • Department of Biophysics
  • Department of Biophysics

External person

Altunbasak, Sakir

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

External person

Wilkins, Jennie

  • 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

Wei, Shu

  • 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

Hersh, Andrew

  • New York University
  • Division of Pediatric Neurosurgery

External person

Swan, Ashley

  • 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

Zschocke, Johannes

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Eric Heinz

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

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

External person

Kevin Larimore

  • BioMarin Pharmaceutical Inc.

External person

Erbe, Richard

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

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

External person

Leroy Hubert

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

External person

Shrestha, Sheela

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

External person

Henry, Sonja

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

External person

Sherry, Langston

  • Ochsner Health System

External person

Nampoothiri, Sheela

  • Amrita Vishwa Vidyapeetham

External person

Khoury, Moona

  • Carmel Medical Center
  • Department of Internal Medicine

External person

Rosen, Orli

  • BioMarin Pharmaceutical Inc.

External person

Ankit K. Desai

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

J. M. Taylor

  • VA Medical Center
  • Dermatology Service
  • VA Medical Center
  • Maine Medical Center

External person

C. Borrone

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

External person

Crumrine, Debra A.

  • 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

External person

Michaela Odone

  • Myelin Project

External person

Ryan J. Taft

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

External person

Arnold, Georgianne L.

  • University of Pittsburgh
  • Department of Pediatrics

External person

Hart, Theresa

  • University of Pittsburgh
  • University of Rochester

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

External person

Dwyer, Lauren

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

External person

Susan Richards

  • Sanofi Genzyme
  • Sanofi-Aventis

External person

Mert, Gölen G.

  • Cukurova University
  • Department of Pediatric Neurology

External person

Canale, Sabrina

  • San Raffaele Scientific Institute
  • Fondazione Telethon
  • TIGET Pediatric Clinical Research Unit

External person

Russi, Alvaro Serrano

  • University of Pittsburgh
  • University of Iowa

External person

M. E. Blanco-Aguirre

  • Servicio de Genética
  • Universidad Nacional Autonoma de Mexico

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

W. A. Gahl

  • National Institutes of Health, Bethesda
  • Natl. Inst. Child Hlth. Hum. D.
  • National Institutes of Health
  • Heritable Disorders Branch
  • Office of the Clinical Director
  • Medical Genetics Branch
  • Intramural Program of the Office of Rare Diseases
  • Office of the Clinical
  • 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
  • Medical Genetics Branch

External person

Loman, Rebecca

  • University of Pittsburgh
  • Sanford Children's Specialty Clinic

External person

Alexandra M. Joseph

  • Sanofi Genzyme
  • Sanofi-Aventis

External person

Goodin, Kara

  • University of Pittsburgh
  • University of Louisville

External person

Smidt, Aimee C.

  • University of New Mexico
  • Department of Dermatology and Pediatrics

External person

Donna DiVito

  • University of Pennsylvania
  • Division of Neurology

External person

Kiley Morgart

  • Kennedy Krieger Institute
  • Psychiatric Social Work Program

External person

Naldini, Luigi

  • Vita-Salute San Raffaele University
  • Vita-Salute San Raffaele University
  • Fondazione Telethon

External person

J. P. Fryns

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

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

W. A. Gahl

  • National Institutes of Health, Bethesda

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

External person

Jennings, M. Anitia

  • University of Nebraska Medical Center

External person

Ozbek, Mehmet N.

  • 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

Codispoti, Andrea

  • 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

Li, Mingjin

  • BioMarin Pharmaceutical Inc.

External person

D. Cranin

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

External person

Juliana Trafrova

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

External person

Dodge, Melinda

  • University of Pittsburgh
  • University of Colorado Denver

External person

M. A.S. van Duyn

  • Johns Hopkins University

External person

N. M. Verhoeven

  • Free University Hospital Amsterdam
  • Vrije Universiteit Amsterdam
  • Department of Clinical Chemistry

External person

Hacia, J. G.

  • 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

External person

Shona Gupta

  • Virginia Commonwealth University
  • Div. of Endocrinology and Metabolism

External person

Asamoah, Alexander

  • University of Pittsburgh
  • University of Louisville

External person

Ayelet Zerem

  • Edith Wolfson Medical Center Israel

External person

Abramsky, Oded

  • 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

Di Serio, Clelia

  • 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

Lossos, Alexander

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

External person

Arnold, Georgianne

  • University of Pittsburgh

External person

L. L. Judd

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

External person

Gamble, Melissa B.

  • Global Foundation for Peroxisomal Disorders

External person

T. S. Aguiar

  • Santa Casa de Misericórdia do Rio de Janeiro

External person

Lakshman, Sangeetha

  • University of Pittsburgh
  • Emory University

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

Schmuth, Matthias

  • Innsbruck Medical University

External person

Kathleen Davis

  • University of Nebraska Medical Center

External person

Kompare, Michelle

  • University of Nebraska Medical Center

External person

Pickford, Jean R.

  • Foundation for Ichthyosis and Related Skin Types

External person

M. Katharine Rudd

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

External person

Levy, Moise L.

  • Dell
  • Pediatric Dermatology

External person

Bentler, Kristi

  • University of Pittsburgh
  • Minnesota Department of Health

External person

Narumanchi, Tara Chandra

  • University of Pittsburgh
  • West Virginia University

External person

David J. Hamrock

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

External person

Maria Sessa

  • Fondazione Telethon
  • Neurology Unit
  • IRCCS San Raffaele Scientific Institute
  • TIGET Pediatric Clinical Research Unit

External person

Loren D M Pena

  • University of Pittsburgh
  • Duke University

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

Steiner, C. E.

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

External person

Jenkens, Sabrinamalone

  • University of Nebraska Medical Center

External person

Jean‐Marie ‐M Saudubray

  • Department of Pediatrics
  • Université Paris 5

External person

Claudio Bordignon

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

External person

William K. Seltzer

  • University of Colorado Denver
  • Department of Pediatrics and Department of Biochemistry, Biophysics and Genetics

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

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

Cesani, Martina

  • Fondazione Telethon

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

Priya S. Kishnani

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

External person

Adam, Randall L.

  • 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

External person

Didona, Biagio

  • 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

K. S. Roth

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

External person

Hummel, Marybeth

  • University of Pittsburgh
  • West Virginia University

External person

Kaitlin Justice

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

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

Biasco, Luca

  • Fondazione Telethon

External person

Rajakaruna, Cecilia

  • University of Pittsburgh
  • University of Louisville

External person

D'Aco, Kristin

  • University of Pittsburgh
  • University of Rochester

External person

James F. Nigro

  • Baylor College of Medicine
  • Medical College of Wisconsin
  • Dept. of Pediatrics and Dermatology

External person

Pedicelli, Cristina

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

External person

Edick, Mathew J.

  • 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

Joy M. Seacat

  • University of Colorado Denver

External person

Sarah H. Elsea

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

External person

G. F. Reed

  • 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

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

Karen P. Hanley

  • Department of Dermatology
  • University of California at San Francisco

External person

Phillips, Emily

  • 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

External person

Daniel W. Denman

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

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

Weiner, Howard L.

  • 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

J. Vockley

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

External person

Bentler, Kristi

  • University of Pittsburgh
  • Minnesota Department of Health

External person

Decker, Celeste

  • BioMarin Pharmaceutical Inc.

External person

Rosenmann, Hanna

  • 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

Weustenfeld, Maximilian

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Marianne R. Neifert

  • University of Colorado Denver

External person

Carol Campbell-Sargent

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

External person

R. K. Abramson

  • Division of Clinical Genetics

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

Niyazov, Dmitriy M.

  • Ochsner Health System

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

External person

Jamie Fraser

  • Children's National Medical Center

External person

S. A. Cuevas-Covarrubias

  • UNAM
  • Universidad Nacional Autonoma de Mexico
  • Servicio de Genética

External person

Ali Fatemi

  • Kennedy Krieger Institute
  • Johns Hopkins University
  • Moser Center for Leukodystrophies and Neurogenetics Service
  • The Hugo W. Moser Research Institute

External person

Mahadevan, Meena

  • Montclair State University
  • Department of Nutrition and Food Studies

External person

R. J.Mc Kinlay Gardner

  • Department of Pediatrics
  • University of Otago

External person

X. M. Zhu

  • Baylor College of Medicine
  • Institute for Molecular Genetics

External person

Rise, Janae

  • University of Nebraska Medical Center

External person

Enrique Chaves-Carballo

  • 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

External person

Engelking, Paula

  • University of Pittsburgh
  • Medical College of Wisconsin

External person

Cicalese, Maria Pia

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

External person

Plati, Tiziana

  • Fondazione Telethon

External person

Roullet, J. B.

  • Oregon Health and Science University

External person

Paul Levy

  • University of Pittsburgh
  • Children's Hospital at Montefiore
  • Children's Hospital
  • Children's Hospital

External person

Martino, Sabata

  • University of Perugia
  • University of Perugia
  • Department of Experimental Medicine and Biochemical Sciences

External person

Ayodele A. Alaiya

  • King Faisal Specialist Hospital and Research Center
  • King Faisal Specialist Hospital and Research Centre
  • Alfaisal University
  • Proteomics Unit

External person

Rhead, William

  • University of Pittsburgh
  • Medical College of Wisconsin

External person

E. N. Moudrianakis

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

External person

Esperanza Font-Montgomery

  • University of Pittsburgh
  • University of Missouri at Kansas City
  • University of Missouri
  • Medical Genetics Branch
  • National Institutes of Health
  • University of Missouri

External person

Boucher, Philip

  • University of Nebraska Medical Center

External person

Hilary Vernon

  • University of Pittsburgh
  • Johns Hopkins
  • Johns Hopkins
  • Johns Hopkins

External person

Gerry Melino

  • University of Rome Tor Vergata
  • University Tor Vergata
  • University of Rome Tor Vergata
  • Department of Experimental Medicine and Surgery
  • MRC Toxicology Unit
  • Ist. Dermopatico Dell' Immacolata
  • Mondino-Tor Vergata Center for Experimental Neurobiology
  • Medical Research Council
  • University of Leicester
  • Department of Experimental Medicine

External person

Bruce McClary

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

External person

Shaohui Zhai

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

External person

Keith van Haren

  • Stanford University
  • Department of Neurology

External person

Stein, Quinn

  • University of Pittsburgh
  • Sanford Children's Specialty Clinic

External person

Schmidt, Manfred

  • German Cancer Research Center
  • Department of Translational Oncology

External person

Walsh-Vockley, Cate

  • University of Pittsburgh
  • Medical College of Wisconsin

External person

C. Jakobs

  • Free University Hospital Amsterdam
  • Vrije Universiteit Amsterdam
  • Department of Clinical Chemistry

External person

Boelens, Jaap J.

  • Utrecht University
  • Pediatric Blood and Marrow Transplantation Program

External person

Nicola Longo

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

External person

R. D. Snyder

  • University of New Mexico
  • Department of Neurology

External person

Edwin M. Stone

  • Univ. of Iowa Hospitals and Clinics
  • University of Iowa Carver College of Medicine
  • University of Iowa
  • Carver College of Medicine
  • Department of Ophthalmology
  • Department of Ophthalmology
  • Departments of Ophthalmology and Visual Sciences
  • Department of Ophthalmology and Visual Sciences
  • Usher Syndrome Center
  • Boys Town National Research Hospital

External person

Edit Tarcsa

  • National Institutes of Health
  • National Institutes of Health
  • Laboratory of Skin Biology

External person

Yilmaz, Mustafa

  • Cukurova University
  • Department of Pediatric Immunology

External person

Jackson, Kelly

  • University of Pittsburgh
  • University of Louisville

External person

Nicole I. Wolf

  • Vrije Universiteit Amsterdam
  • Department of Child Neurology

External person

Matthias Möhrenschlager

  • Tech. Universität München
  • Technical University of Munich
  • Klin./Poliklin. Dermatol./A.

External person

Deborah L. Renaud

  • Mayo Clinic Rochester, MN
  • Division of Child and Adolescent Neurology

External person

Hiner, Sally J.

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

G. S. Harper

  • National Institutes of Health

External person

Engelstad, Holly

  • University of Nebraska Medical Center

External person

Steinberg, Steven J.

  • Johns Hopkins University
  • Institute of Genetic Medicine and Department of Neurology

External person

Gianluigi Zanetti

  • Research and Development in Sardinia (CRS4)
  • Distributed Computing Group
  • Distributed Computing Group
  • Sardegna Ricerche

External person

Sarah H. Evans

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

External person

Omar Sherbini

  • University of Pennsylvania
  • Division of Neurology

External person

J. Chemke

  • National Institutes of Health
  • Section on Biochemical Genetics

External person

Sally J. Hiner

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

External person

Mohammad A. Sadiq

  • Stanley M. Truhlsen Eye Institute
  • University of Nebraska Medical Center
  • Ocular Imaging Research and Reading Center (OIRRC)
  • Stanley M. Truhlsen Eye Institute
  • University of Nebraska
  • Stanley M. Truhlsen Eye Institute
  • Ocular Imaging Reading and Research Center
  • Ocular Imaging Research and Reading Center
  • University of Nebraska-Lincoln

External person

Paul A. Harris

  • Department of Internal Medicine
  • Virginia Commonwealth University

External person

P. Brosnan

  • Driscoll Children's Hospital

External person

S. H. Kofman-Alfaro

  • UNAM
  • Universidad Nacional Autonoma de Mexico
  • Servicio de Genética

External person

Lorioli, Laura

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

External person

Susan A. Berry

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

External person

Amy Waldman

  • University of Pennsylvania
  • Division of Neurology

External person

Leslie K. Larkins

  • University of Michigan
  • University of Michigan, Ann Arbor
  • Department of Biological Chemistry
  • Department of Biological Chemistry

External person

Guy Helman

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

External person

Segel, Reeval

  • Medical Genetics Institute
  • Shaare Zedek Medical Center

External person

J. A. Schneider

  • 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

J. E. Fox

  • Schneider Children's Hospital

External person

J. Bernar

  • National Institutes of Health

External person

Eidelpes, Reiner

  • University of Innsbruck

External person

Clare E. Casey

  • University of Colorado Denver

External person

Vockley, Jerry

  • University of Pittsburgh
  • Department of Pediatrics

External person

Alexandrino, F.

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

External person

Nancy D. Leslie

  • University of Cincinnati
  • University of Pittsburgh
  • Cincinnati Children's Hospital Medical Center
  • Division of Human Genetics
  • Mass Spectrometry Laboratory

External person

Schweighardt, Becky

  • BioMarin Pharmaceutical Inc.

External person

V. A C Luketic

  • Virginia Commonwealth University
  • University of Texas Southwestern Medical Center
  • University of Texas Southwestern Medical Center
  • Virginia Commonwealth University School of Medicine
  • Dept. of Internal Medicine
  • School of Medicine
  • Department of Medicine
  • Division of Gastroenterology
  • Department of Internal Medicine
  • Division of Gastroenterology and Hepatology

External person

Paradisi, Mauro

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

External person

V. Reid Sutton

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

External person

Hernan Amartino

  • Hospital Universitario Austral

External person

Giuliana Vallanti

  • MolMed
  • MolMed S.p.A.

External person

Powers, Racheal

  • University of Pittsburgh
  • Cincinnati Children's Hospital Medical Center

External person

Mark E. Wilkinson

  • University of Iowa
  • Carver College of Medicine
  • Department of Ophthalmology and Visual Sciences

External person

Ada Hamosh

  • University of Pittsburgh
  • Johns Hopkins
  • Johns Hopkins
  • Johns Hopkins

External person

Marcus J. Miller

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

External person

Mohammad R. Mohebbi

  • University of Iowa

External person

M. Valdes-Flores

  • Centro Nacional de Rehabilitación (Ortopedia)
  • Servicio de Genética

External person