William B Rizzo, MD

Professor

  • 5752 Citations
  • 34 h-Index
1977 …2019
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Network

Donny W Suh, MD

Person: Member, Academic, Clinician

Craft, D. A.

  • 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

External person

Carney, G.

  • 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

Schulman, J. D.

  • 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

Clore, J. N.

  • 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

Rush, Eric T.

  • 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

Dammann, A. L.

  • 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

External person

Moser, Ann

  • 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

Compton, John G.

  • 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

Rogers, Geraldine R.

  • 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

De Laurenzi, Vincenzo

  • 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

Phillips, M. W.

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

External person

Leshner, R. T.

  • 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

Li, J.

  • 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

Williams, M. L.

  • 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

Markova, Nedialka G.

  • 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

Zoeller, Raphael A.

  • Boston University
  • Department of Biophysics
  • Department of Biophysics

External person

Avigan, J.

  • National Institutes of Health
  • Laboratory of Cellular Metabolism

External person

Kelson, T. L.

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

External person

Gahl, W. A.

  • 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

External person

Blackard, William G.

  • 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

Odone, A.

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

External person

Jennings, S. S.

  • 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

Lin, Zhili

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

External person

Wolf, B.

  • 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

Azzam, Amin

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

External person

Hajra, Amiya K.

  • 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

Kronn, David

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

External person

Kapatos, G.

  • National Institutes of Health
  • Laboratory of Neurochemistry

External person

Bose, Mousumi

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

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

Simon, Marcia

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

External person

Bale, Sherri J.

  • 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

Bustin, M.

  • National Institutes of Health, Bethesda

External person

Proud, V. K.

  • 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

Incecik, Faruk

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

External person

Di Rocco, M.

  • 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

Steinert, Peter M.

  • 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

Lazarow, Paul B.

  • 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

Zuelzer, Wilhelm

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

External person

Kaufman, S.

  • National Institutes of Health
  • Laboratory of Neurochemistry

External person

Thomas, Janet

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

External person

Sgro, J. A.

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

External person

Leventer, Richard J.

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

External person

Gill, Ranjodh

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

External person

Zlotogorski, Abraham

  • 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

Jensen, M. E.

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

External person

Auada, M. P.

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

External person

Bernardini, I.

  • National Institutes of Health
  • Medical Genetics Branch

External person

Abdul-Rahman, Omar A.

  • University of Mississippi
  • University of Nebraska Medical Center
  • Department of Pediatrics
  • Department of Pediatrics
  • Division of Medical Genetics
  • Division of Genetics

External person

Jaitly, R.

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

External person

Moser, Hugo W.

  • 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

Marekov, Lyuben N.

  • 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

Elias, P. M.

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

External person

Wangler, Michael F.

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

External person

Suchy, S. F.

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

External person

Dalakas, M.

  • National Institutes of Health

External person

Black, Susan H.

  • 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

External person

Boles, Debra J.

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

External person

Parikh, Sumit

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

External person

Tabsh, K.

  • 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

External person

Von Kalle, Christof

  • German Cancer Research Center
  • Department of Translational Oncology

External person

Holden, Kenton R.

  • 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

Holmgren, Gösta

  • 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

External person

Gardner, Jason

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

External person

Goldyne, M. E.

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

External person

Tonduti, Davide

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

External person

Mohamed, Jawahir Y.

  • 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

Mertz, Jana

  • Women and Children's Hospital of Buffalo

External person

Troxler, R. Bradley

  • University of Alabama at Birmingham
  • Department of Pediatrics

External person

Samons, Melissa

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

External person

Edick, Mathew J.

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Edwards, J. G.

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

External person

Corden, Brian J.

  • 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

Burton, Barbara K.

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

External person

Joseph, Christopher

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

External person

Patterson, James W.

  • 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

Rivera-Vega, M. R.

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

External person

Feigenbaum, Annette

  • 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

Gahl, William A.

  • National Institutes of Health, Bethesda

External person

Adang, Laura A.

  • University of Pennsylvania
  • Division of Neurology

External person

Ventura, Meredith J.

  • Baylor College of Medicine

External person

Schmidt, Johanna L.

  • 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

Coakley, Katie

  • University of Pittsburgh
  • Emory University

External person

Kariminejad, Mohamad Hasan

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

External person

Thoene, J. G.

  • 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

Bonnefont, Jean‐Paul ‐P

  • Department of Pediatrics
  • Université Paris 5

External person

Romeo, Giovanni

  • 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

Verma, Ishwar C.

  • Sir Ganga Ram Hospital
  • Center of Medical Genetics

External person

Keller, Stephanie

  • Emory University
  • Division of Pediatric Neurology

External person

Davis-Keppen, Laura

  • University of Pittsburgh
  • Sanford Children's Specialty Clinic

External person

Campbell, B.

  • Laboratory of Cellular Metabolism
  • National Institutes of Health

External person

van Duyn, M. A.S.

  • Johns Hopkins University

External person

Roesel, R. A.

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

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

Neville, Margaret

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

External person

Lipinski, Sue

  • University of Pittsburgh
  • University of Michigan, Ann Arbor

External person

Tanpaiboon, Pranoot

  • Children's National Medical Center

External person

Abramson, R. K.

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

External person

Hansen, Joyanna

  • University of Pittsburgh
  • Oregon Health and Science University

External person

Koone, M. D.

  • Duke University
  • Division of Dermatology

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

Loria, Roger M.

  • Virginia Commonwealth University
  • Department of Microbiology and Immunology

External person

Theroux, N.

  • 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

External person

Lightner, V.

  • Duke University
  • Division of Dermatology

External person

Ambrose, Nancy

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

External person

Maaswinkel-Mooij, P. D.

  • 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

Zori, Roberto

  • Department of Pediatrics in the College of Medicine
  • University of Florida

External person

Pinnell, S. R.

  • Duke University
  • Division of Dermatology

External person

Das, Arun K.

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

External person

Dintiman, B.

  • 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

Knazek, R. A.

  • National Institutes of Health

External person

Zenger-Hain, J.

  • 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

Patterson, Marc C.

  • 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

Schlesselman, J. J.

  • 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

Rovelli, Attilio

  • 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

Nagan, Narasimhan

  • 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

Hurko, O.

  • National Institutes of Health

External person

Aubourg, P.

  • 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

Larimore, Kevin

  • BioMarin Pharmaceutical Inc.

External person

Bose, Mousumi

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

External person

Carr, Christopher W.

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

External person

Hollowell, Leslie

  • Children's National Medical Center
  • Complex Care Program

External person

Brouwer, O. F.

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

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

Shiffman, Mitchell L.

  • 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

Bloom, Miriam

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

External person

Lee, Jongsoon

  • Department of Biochemistry
  • Boston University

External person

Tilton, Ann Henderson

  • 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

External person

Tamarkin, L.

  • National Institutes of Health

External person

Davis, S.

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

External person

Kazi, Zoheb B.

  • Duke University
  • Department of Pediatrics

External person

van Hove, Johan

  • University of Colorado Denver
  • Department of Pediatrics

External person

Suhr, Teryn

  • 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

Fouzdar-Jain, Samiksha

  • 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

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

Bonkowsky, Joshua L.

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

External person

Braun, I. F.

  • Virginia Commonwealth University
  • Department of Radiology

External person

Tortori-Donati, P.

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

External person

Hoeg, J. M.

  • National Institutes of Health

External person

Dimmock, David

  • Baylor College of Medicine
  • University of Pittsburgh
  • Medical College of Wisconsin
  • Department of Molecular and Human Genetics

External person

Roullet, Jean Baptiste

  • 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

Wanders, R. J A

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

External person

Elsbecker, Sara

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

External person

Sakuragawa, N.

  • 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

Scalais, Emmanuel

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

External person

Mehta, Nalini A L

  • GlaxoSmithKline
  • Molecular and Cellular Technologies

External person

Chamberlain, Jeffrey

  • 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

McInnes, R. R.

  • 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

Best, R. G.

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

External person

Maddock, Ryan

  • 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

External person

Puri, Ratna D.

  • Sir Ganga Ram Hospital
  • Center of Medical Genetics

External person

McVie-Wylie, Alison

  • Sanofi Genzyme

External person

Leite, Neucimar J.

  • State University of Campinas
  • Universidade Estadual de Campinas

External person

Kishnani, Priya S.

  • University of Pittsburgh
  • Duke University
  • Department of Pediatrics

External person

Kurth, P. D.

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

External person

Ball, Laura

  • Children's National Medical Center

External person

Aldahmesh, Mohammed A.

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

External person

Hashem, Nemat

  • 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

Schwoerer, Jessica Scott

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

External person

Bertini, Enrico

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

External person

Somer, Tara

  • University of Nebraska Medical Center

External person

Biesecker, L. G.

  • University of Michigan
  • University of Michigan, Ann Arbor
  • Division of Pediatric Genetics

External person

Feldman, Gerald

  • University of Pittsburgh
  • Children's Hospital of Michigan

External person

Watkins, Paul A.

  • 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

Padgett, David A.

  • Virginia Commonwealth University
  • Department of Microbiology and Immunology

External person

Lagae, L.

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

External person

Veneselli, E.

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

External person

van der Knaap, Marjo S.

  • Vrije Universiteit Amsterdam
  • Department of Child Neurology

External person

Orillac, Cordelia

  • New York University
  • Division of Pediatric Neurosurgery

External person

Sacré, Jean Paul

  • 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

Ballabio, Andrea

  • 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

Roncarolo, Maria Grazia

  • 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

Emami, S.

  • 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

Sterling, Richard K.

  • 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

Pizzino, Amy

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

External person

Mano, Toshiyuki

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

External person

Barzgar, Mohammadreza

  • Skin Research Center, Shahid Beheshti University of Medical Sciences

External person

James, Paul F.

  • Boston University
  • Department of Biophysics

External person

Kariminejad, Ariana

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

External person

Donti, Taraka R.

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

External person

Jaffe, Nicole

  • 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

Allen, Jonathan C.

  • University of Colorado Denver

External person

Leo, Simone

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

External person

Yamaguchi, S.

  • Gifu University

External person

Herscovitz, Haya

  • 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

Langan, Thomas

  • Hunter James Kelly Research Institute

External person

Koeberl, Dwight D.

  • University of Pittsburgh
  • Duke University

External person

Wei, Shu

  • University of Nebraska Medical Center

External person

Contos, Melissa

  • 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

External person

Carroll, J. E.

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

External person

Hersh, Andrew

  • New York University
  • Division of Pediatric Neurosurgery

External person

Swan, Ashley

  • University of Pittsburgh
  • Medical College of Wisconsin

External person

Blethen, S. L.

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

External person

Mukherjee, A. B.

  • National Institutes of Health

External person

Hainline, Sarah

  • University of Pittsburgh
  • Indiana University Bloomington

External person

Zschocke, Johannes

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Heinz, Eric

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

External person

Richard, Gabriele

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

External person

Erbe, Richard

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

External person

Jagell, Sten

  • 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

External person

Hubert, Leroy

  • 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

Desai, Ankit K.

  • Duke University
  • Department of Pediatrics

External person

Levisohn, D.

  • University of New Mexico
  • Department of Dermatology

External person

Taylor, J. M.

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

External person

Borrone, C.

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

External person

Crumrine, Debra A.

  • University of California at San Francisco
  • Department of Dermatology

External person

Cameron, Cynthia A.

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Odone, Michaela

  • Myelin Project

External person

Taft, Ryan J.

  • 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

External person

Arnold, Georgianne L.

  • University of Pittsburgh
  • Department of Pediatrics

External person

Hart, Theresa

  • University of Pittsburgh
  • University of Rochester

External person

Shapiro, Jay

  • Kennedy Krieger Institute

External person

Heard, Gregory S.

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

External person

Raymond, G. V.

  • University of Minnesota
  • 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

Fumagalli, Francesca

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

External person

Richards, Susan

  • Sanofi Genzyme

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

Blanco-Aguirre, M. E.

  • Servicio de Genética
  • Universidad Nacional Autonoma de Mexico

External person

McCabe, Edward R B

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

External person

Loman, Rebecca

  • University of Pittsburgh
  • Sanford Children's Specialty Clinic

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

DiVito, Donna

  • University of Pennsylvania
  • Division of Neurology

External person

Morgart, Kiley

  • 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

Fryns, J. P.

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

External person

Dawson, Machelle

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

External person

Suhr, Dean

  • MLD Foundation

External person

Secor McVoy, Julie R.

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

External person

Bozorgmehr, Bita

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

External person

Hainline, Bryan

  • University of Pittsburgh
  • Indiana University Bloomington

External person

Gahl, W. A.

  • National Institutes of Health, Bethesda

External person

Mirshahi, Faridoddin

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

External person

Brown, F. R.

  • Johns Hopkins University

External person

Prange, Erin

  • 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

Barker, D. F.

  • 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

Ahmad, Ayesha

  • University of Pittsburgh
  • University of Michigan, Ann Arbor

External person

Berry, Susan

  • University of Pittsburgh
  • University of Minnesota

External person

Li, Mingjin

  • BioMarin Pharmaceutical Inc.

External person

Cranin, D.

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

External person

Trafrova, Juliana

  • 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

Verhoeven, N. M.

  • 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

Alkuraya, Fowzan S.

  • 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

External person

Gupta, Shona

  • Virginia Commonwealth University
  • Div. of Endocrinology and Metabolism

External person

Asamoah, Alexander

  • University of Pittsburgh
  • University of Louisville

External person

Zerem, Ayelet

  • Edith Wolfson Medical Center Israel

External person

Abramsky, Oded

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

External person

Holbrook, K.

  • 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

External person

Escolar, Maria

  • University of Pittsburgh
  • Department of Pediatrics

External person

Di Serio, Clelia

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

External person

Hahn, D. A.

  • Medical College of Georgia
  • Division of Intensive Care

External person

Lossos, Alexander

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

External person

Arnold, Georgianne

  • University of Pittsburgh

External person

Judd, L. L.

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

External person

Gamble, Melissa B.

  • Global Foundation for Peroxisomal Disorders

External person

Bernard, Genevieve

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

External person

Lakshman, Sangeetha

  • University of Pittsburgh
  • Emory University

External person

Jonas, A. J.

  • 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

Kompare, Michelle

  • University of Nebraska Medical Center

External person

Pickford, Jean R.

  • Foundation for Ichthyosis and Related Skin Types

External person

Rudd, M. Katharine

  • 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

Hamrock, David J.

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

External person

Pena, Loren D M

  • University of Pittsburgh
  • Duke University

External person

Somers, M. P.

  • Virginia Commonwealth University
  • Departments of Human Genetics

External person

Rangaswamy, Shanthi

  • Boston University
  • Department of Biophysics
  • Department of Biophysics

External person

Elsbecker, Sara A.

  • University of Pittsburgh
  • University of Minnesota
  • 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

Saudubray, Jean‐Marie ‐M

  • Department of Pediatrics
  • Université Paris 5

External person

Bordignon, Claudio

  • MolMed
  • Vita-Salute San Raffaele University
  • MolMed SpA

External person

Seltzer, William K.

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

External person

Aguiar, T. S.

  • Santa Casa of Rio de Janeiro University
  • Universidade Federal do Rio de Janeiro
  • Department of Dermatology

External person

Waggoner, Jacque

  • Hunter's Hope Foundation

External person

Dave, J. R.

  • National Institutes of Health

External person

Towbin, Jeffrey A.

  • 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

External person

Purdue, P. Edward

  • 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

Banin, Eyal

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

External person

van der Zalm, T.

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

External person

Kishnani, Priya S.

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

External person

Adam, Randall L.

  • State University of Campinas
  • Universidade Estadual de Campinas

External person

Sessa, Maria

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

External person

Jack, Loren S.

  • 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

External person

Didona, Biagio

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

External person

Vanderver, Adeline

  • University of Pennsylvania
  • Children's National Medical Center

External person

Esterly, Nancy B.

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

External person

Medina, C.

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

External person

Roth, K. S.

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

External person

Hummel, Marybeth

  • University of Pittsburgh
  • West Virginia University

External person

Justice, Kaitlin

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Sun, Qin

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

External person

Van Loon, G. R.

  • 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

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

Kabbara, Nabil

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

External person

Santos, Manuel J.

  • 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

Seacat, Joy M.

  • University of Colorado Denver

External person

Elsea, Sarah H.

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

External person

Reed, G. F.

  • 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

Karpinski, Mary

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

External person

Hanley, Karen P.

  • Department of Dermatology
  • University of California at San Francisco

External person

Phillips, Emily

  • University of Pittsburgh
  • University of Iowa

External person

Filocamo, M.

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

External person

Africk, Diane

  • 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

External person

Denman, Daniel W.

  • 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

Fraser, Jamie

  • Children's National Medical Center

External person

Sanyal, Arun J.

  • 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

Sawyer, R. W.

  • Virginia Commonwealth University
  • Department of Radiology

External person

Worley, Kim C.

  • 2471TAMU
  • Baylor College of Medicine
  • Texas A and 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

Vockley, J.

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

External person

Bernard, Geneviève

  • McGill University Health Center
  • Laurentian University
  • University of Montreal
  • McGill University
  • Departments of Pediatrics

External person

Bentler, Kristi

  • University of Pittsburgh
  • Minnesota Department of Health

External person

Lee, Minjoo

  • Natl. Inst. Arthr. Musculoskel. S.
  • National Instruments
  • Genetic Studies Section
  • Genetic Studies Section
  • National Institutes 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

Nigro, James F.

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

External person

Weustenfeld, Maximilian

  • Division of Human Genetics
  • Innsbruck Medical University

External person

Neifert, Marianne R.

  • University of Colorado Denver

External person

Campbell-Sargent, Carol

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

External person

Packman, Seymour

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

External person

Niyazov, Dmitriy M.

  • Ochsner Health System

External person

Verloes, Alain

  • Centre for Human Genetics, Liège University, Centre Hospitalier Saint Joseph-Espérance ; Rocourt
  • University of Liege

External person

Alkuraya, Hisham S.

  • 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

Cuevas-Covarrubias, S. A.

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

External person

Fatemi, Ali

  • 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

Azulay, R. D.

  • Santa Casa of Rio de Janeiro University
  • Universidade Federal do Rio de Janeiro
  • Department of Dermatology

External person

Pizzino, Amy

  • Children's National Health System
  • Department of Neurology

External person

Gardner, R. J.Mc Kinlay

  • Department of Pediatrics
  • University of Otago

External person

Zhu, X. M.

  • Baylor College of Medicine
  • Institute for Molecular Genetics

External person

Rise, Janae

  • University of Nebraska Medical Center

External person

Chaves-Carballo, Enrique

  • 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

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

Levy, Paul

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

External person

Martino, Sabata

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

External person

Alaiya, Ayodele A.

  • 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

Vanderver, Adeline

  • Children's National Health System
  • George Washington University
  • School of Medicine and Health Services
  • Department of Neurology
  • Departments of Neurology
  • Mayo Clinic Rochester, MN

External person

Moudrianakis, E. N.

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

External person

Font-Montgomery, Esperanza

  • 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

Vernon, Hilary

  • University of Pittsburgh
  • Johns Hopkins
  • Johns Hopkins

External person

Melino, Gerry

  • 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

McClary, Bruce

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

External person

Zhai, Shaohui

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

van Haren, Keith

  • 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

Jakobs, C.

  • 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

Longo, Nicola

  • Division of Medical Genetics
  • University of Utah

External person

Snyder, R. D.

  • University of New Mexico
  • Department of Neurology

External person

Stone, Edwin M.

  • 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

External person

Tarcsa, Edit

  • 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

Wolf, Nicole I.

  • Vrije Universiteit Amsterdam
  • Department of Child Neurology

External person

Möhrenschlager, Matthias

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

External person

Renaud, Deborah L.

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

External person

Hiner, Sally J.

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Harper, G. S.

  • 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

Zanetti, Gianluigi

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

External person

Evans, Sarah H.

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

External person

Sherbini, Omar

  • University of Pennsylvania
  • Division of Neurology

External person

Chemke, J.

  • National Institutes of Health
  • Section on Biochemical Genetics

External person

Hiner, Sally J.

  • University of Pittsburgh
  • Michigan Public Health Institute

External person

Mohebbi, Mohammad R.

  • Siouxland Medical Education Foundation-University of Iowa
  • University of Iowa

External person

Mancilla, Edna

  • University of Pennsylvania

External person

Sadiq, Mohammad A.

  • 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

Harris, Paul A.

  • Department of Internal Medicine
  • Virginia Commonwealth University

External person

Brosnan, P.

  • Driscoll Children's Hospital

External person

Kofman-Alfaro, S. H.

  • 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

Berry, Susan A.

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

External person

Waldman, Amy

  • University of Pennsylvania
  • Division of Neurology

External person

Larkins, Leslie K.

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

External person

Helman, Guy

  • 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

Davis, Kathleen

  • Medical University of Ohio
  • Dept. of Medical Genetics (IB 130)
  • Medical College of Ohio
  • University of Toledo
  • University of Nebraska Medical Center
  • Medical University of Ohio

External person

Schneider, J. A.

  • 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

Fox, J. E.

  • Schneider Children's Hospital

External person

Bernar, J.

  • National Institutes of Health

External person

Eidelpes, Reiner

  • University of Innsbruck

External person

Casey, Clare E.

  • 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

Leslie, Nancy D.

  • 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

Luketic, V. A C

  • 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

Sutton, V. Reid

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

External person

Amartino, Hernan

  • Hospital Universitario Austral

External person

Vallanti, Giuliana

  • MolMed
  • MolMed SpA

External person

Powers, Racheal

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

External person

Wilkinson, Mark E.

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

External person

Hamosh, Ada

  • University of Pittsburgh
  • Johns Hopkins
  • Johns Hopkins

External person