Filippo Pinto e Vairo

Filippo Pinto e Vairo, MD, PhD

20112024

Research activity per year

Network

Ida V.D. Schwartz

  • Medical Genetics Service
  • Universidade Federal do Rio Grande do Sul
  • School of Medicine
  • BRAin (Basic Research and Advanced Investigations in Neurosciences) Laboratory
  • Medical Genetics Service
  • Department of Genetics
  • Hospital das Clínicas de Porto Alegre
  • Universidade Federal do Rio de Janeiro

External person

Roberto Giugliani

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • Department of Genetics
  • INAGEMP
  • INAGEMP
  • DASA
  • Casa dos Raros
  • Diagnósticos da América S.A

External person

M. Siebert

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

External person

Guilherme Baldo

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

External person

Cristina Netto

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

External person

Pavel Pichurin

  • Medical Genetics, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Department of Medical Genetics
  • Division of Medical Genetics
  • Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • University of California at Los Angeles
  • Cedars-Sinai Medical Center
  • Radboud University Nijmegen
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Jennifer L. Kemppainen

  • Mayo Clinic Rochester, MN
  • Clinical Genomics
  • Center for Individualized Medicine, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Carolina Fischinger Moura de Souza

  • Medical Genetics Service
  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • Casa dos Raros

External person

Margot A. Cousin

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

External person

Rodrigo Tzovenos Starosta

  • Universidade Federal do Rio Grande do Sul
  • School of Medicine
  • Mayo Clinic Rochester, MN
  • Washington University St. Louis

External person

Alícia Dorneles Dornelles

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

External person

Francyne Kubaski

  • INAGEMP
  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • University of Delaware
  • INAGEMP
  • Greenwood Genetics Center

External person

U. S. Matte

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • Department of Genetics
  • Hospital of Clinics of Porto Alegre

External person

Teresa M. Kruisselbrink

  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics
  • Center for Individualized Medicine, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Hematology
  • Clinical Genomics
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Carri A. Prochnow

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science

External person

Maira Burin

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

External person

Fernanda Sperb-Ludwig

  • Universidade Federal do Rio Grande do Sul

External person

Fabiano Poswar

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

External person

Suélen Porto Basgalupp

  • Universidade Federal do Rio Grande do Sul
  • Hospital Moinhos de Vento

External person

Matheus Wilke

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • Mayo Clinic Rochester, MN

External person

Abhishek A. Mangaonkar

  • Mayo Clinic Rochester, MN
  • Division of Hematology
  • Department of Hematology
  • Division of Hematology, Mayo Clinic
  • Divison of Hematology/Oncology
  • Department of Internal Medicine, Mayo Clinic
  • Department of Medicine
  • Division of Hematology
  • Division of Hematology
  • Division of Hematology
  • Division of Hematology
  • Department of Internal Medicine and Division of Hematology
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Boris Keren

  • AP-HP
  • Sorbonne Université
  • Inria Aramis Project-team Centre Paris-Rocquencourt
  • Institut national de la santé et de la recherche médicale
  • Département de Génétique
  • Assistance publique – Hôpitaux de Paris
  • Sorbonne Universités UPMC Univ Paris 06 INSERM CNRS
  • Universite Pierre et Marie Curie

External person

Michael T. Zimmermann

  • Mayo Clinic Rochester, MN
  • Departments of Health Sciences Research and Biomedical Statistics and Informatics
  • Mayo Clinic College of Medicine and Science
  • Medical College of Wisconsin
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Genomic Science and Precision Medicine Center
  • Department of Health Sciences and Research, Mayo Clinic
  • Department of Biomedical Statistics and Informatics, Mayo Clinic
  • Clinical and Translational Science Institute
  • Bioinformatics Research and Development Laboratory
  • Bioinformatics Research and Development Laboratory
  • Dept. of Health Sciences Research
  • Biomedical Informatics
  • Division of Biomedical Statistics and Informatics
  • Departments of Health Sciences Research and Biomedical Statistics and Informatics
  • Mayo Clinic College of Medicine and Science

External person

Livia Paskulin

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

External person

Patricia Ashton-Prolla

  • Universidade Federal do Rio Grande do Sul
  • Department of Genetics

External person

Tatiele Nalin

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • Ultragenyx Brasil Farmacêutica Ltda

External person

Klaas J. Wierenga

  • University of Oklahoma
  • Department of Pediatrics
  • Department of Clinical Genomics
  • Mayo Clinic Jacksonville, FL
  • Mayo Clinic Rochester, MN

External person

Patrick R. Blackburn

  • Mayo Clinic Jacksonville, FL
  • Center for Individualized Medicine
  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine
  • Departments of Health Sciences Research and Medicine, Mayo Clinic Florida
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Laboratory Genetics and Genomics
  • Mayo Clinic College of Medicine and Science
  • Department of Biochemistry and Molecular Biology
  • Mayo Clinic Scottsdale, AZ
  • Comprehensive Cancer Center
  • Department of Molecular Medicine
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Department of Laboratory Medicine and Pathology
  • St. Jude Children Research Hospital
  • Medical College of Wisconsin
  • St. Jude Children’s Hospital
  • Mayo Clinic College of Medicine and Science

External person

Leonardo Modesti Vedolin

  • Universidade Federal do Rio Grande do Sul
  • Hospital Moinhos de Vento

External person

Katherine E. Agre

  • Mayo Clinic Rochester, MN
  • Clinical Genomics
  • Invitae Corporation

External person

Sarah A. Kroc

  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Laura E. Schultz-Rogers

  • Mayo Clinic Rochester, MN
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Clinical Genomics
  • Department of Health Science
  • Mayo Clinic College of Medicine and Science
  • University of North Carolina at Chapel Hill
  • Iowa State University
  • Mayo Clinic College of Medicine and Science

External person

Christopher T. Schmitz

  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science

External person

Nicole Bertsch

  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

J. A.M. Saute

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

External person

Mariluce Riegel

  • Institute of Medical Genetics
  • University of Zurich
  • University of Pecs
  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service

External person

Kristiane Michelin-Tirelli

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

External person

Sarah Macklin

  • Mayo Clinic Jacksonville, FL
  • Department of Clinical Genomics
  • Mayo Clinic Scottsdale, AZ
  • Mayo Clinic Rochester, MN

External person

Charu Kaiwar

  • Mayo Clinic Scottsdale, AZ
  • Center for Individualized Medicine
  • Invitae
  • University of Tübingen
  • Department of Neurology and Epileptology
  • Mayo Clinic Rochester, MN
  • Invitae Corporation

External person

Erin Conboy

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

External person

Kristiane Michelin Tirelli

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

External person

Lisa A. Schimmenti

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

External person

Tammy M. McAllister

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

External person

Taciane Alegra

  • Universidade Federal do Rio Grande do Sul
  • Medical Genetics Service
  • University College Dublin

External person

Tanya L. Schwab

  • Mayo Clinic Rochester, MN
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Department of Biochemistry and Molecular Biology
  • Center for Individualized Medicine, Mayo Clinic
  • Mayo Clinic College of Medicine and Science

External person

Caroline Nava

  • AP-HP
  • Sorbonne Université
  • Institut national de la santé et de la recherche médicale
  • Assistance publique – Hôpitaux de Paris
  • Département de Génétique
  • Inria Aramis Project-team Centre Paris-Rocquencourt
  • Sorbonne Universités UPMC Univ Paris 06 INSERM CNRS
  • Universite Pierre et Marie Curie

External person

N. Gangat

  • Mayo Clinic College of Medicine
  • Division of Hematology
  • Division of Hematology, Mayo Clinic Rochester
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Hematology
  • Department of Internal Medicine, Mayo Clinic
  • Division of Hematology, Mayo Clinic
  • Department of Medicine
  • Department of Hematology
  • Division of Hematology
  • Division of Hematology
  • Miles and Shirley Fiterman Digestive Disease Center
  • University of Cologne
  • University of Pavia
  • University of Padua
  • Azienda Sanitaria Ulss 6 Vicenza
  • Ospedali Riuniti di Bergamo
  • Medical University of Vienna
  • University of Florence
  • Division of Hematology
  • Division of Laboratory Medicine
  • Division of Hematology
  • Department of Hematology
  • Division of Hematology
  • Division of Hematology
  • Division of Hematology/Department of Medicine
  • Divisions of Hematology
  • Department of Internal Medicine
  • Division of Hematology
  • Department of Medicine
  • Division of Hematology
  • Department of Internal Medicine
  • Division of Hematology
  • Division of Hematology
  • Division of Hematology and Internal Medicine
  • Department of Internal Medicine and Division of Hematology
  • Mayo Clinic Scottsdale, AZ
  • Mayo Clinic Jacksonville, FL
  • Mayo Clinic College of Medicine and Science
  • Department of Internal Medicine

External person

Radhika Dhamija

  • Mayo Clinic College of Medicine
  • Division of Child and Adolescent Neurology
  • Mayo Clinic College of Medicine and Science
  • Division of Child and Adolescent Psychiatry
  • Mayo Clinic Rochester, MN
  • University of Montreal
  • Mayo Clinic
  • Mayo Clinic Scottsdale, AZ
  • Mayo Clinic
  • Division of Child and Adolescent Neurology and Epilepsy
  • Department of Immunology
  • Department of Neurology
  • Department of Medical Genetics
  • Departments of Neurology and Pediatrics
  • University of Virginia
  • Department of Medical Genetics
  • Division of Child and Adolescent Neurology
  • Department of Neurology
  • Department of Medical Genetics
  • Department of Neurology
  • Departments of Clinical Genomics
  • Departments of Neurology
  • Department of Neurology
  • Division of Gastroenterology and Hepatology
  • From the Departments of Neurology (A.M.P.
  • Mayo Clinic
  • Mayo Clinic

External person

Lauren Gunderson

  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Stacy L. Aoudia

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Paldeep S. Atwal

  • Mayo Clinic Jacksonville, FL
  • FL
  • Departments of Clinical Genomics
  • Atwal Clinic: Genomic & Personalized Medicine
  • Atwal Clinic
  • Atwal Clinic

External person

Divair Doneda

  • Universidade Federal do Rio Grande do Sul

External person

Mariana Jobim

  • Universidade Federal do Rio Grande do Sul

External person

Nicole J. Boczek

  • Mayo Clinic College of Medicine and Science
  • Saint Olaf College
  • St. Olaf College
  • Windland Smith Rice Sudden Death Genomics Laboratory
  • Mayo Clinic Rochester, MN
  • Division of Pediatric Cardiology
  • Mayo Clinic
  • Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic
  • Center for Clinical and Translational Science
  • Department Molecular Pharmacology and Experimental Therapeutics
  • Department of Biology
  • Center for Clinical and Translational Science, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Department of Molecular Pharmacology & Experimental Therapeutics
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Cardiovascular Diseases, Mayo Clinic College of Medicine
  • Department of Pediatrics
  • Department of Pediatrics (Division of Pediatric Cardiology)
  • Department of Medicine (Division of Cardiovascular Diseases)
  • Mayo Graduate School
  • Windland Smith Rice Sudden Death Genomics Laboratory
  • Department of Laboratory Medicine and Pathology; Genomics Laboratory
  • Department of Biomedical Statistics and Informatics, Mayo Clinic
  • St. Olaf College
  • Center for Clinical and Translational Science
  • Windland Smith Rice Sudden Death Genomics Laboratory
  • Mayo Graduate School
  • Department of Cardiovascular Medicine
  • Department of Pediatrics
  • Division of Pediatric Cardiology
  • Center for Clinical and Translational Science
  • Mayo Clinic College of Medicine and Science

External person

Carolina Fischinger Souza

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

External person

Ana Carolina Brusius-Facchin

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

External person

Eurico Camargo Neto

  • CTN - Centro de Triagem Neonatal
  • CTN Diagnósticos
  • CTN Diagnósticos

External person

Erica L. Macke

  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine, Mayo Clinic
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Marissa S. Ellingson

  • Center for Individualized Medicine, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Medical Genetics
  • Department of Medical Genetics
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Cardiovascular Diseases
  • Department of Radiology

External person

Amauri Dalla Corte

  • Universidade Federal do Rio Grande do Sul
  • Universidade do Vale do Rio dos Sinos

External person

Ashley N. Sigafoos

  • Mayo Clinic Rochester, MN
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Cyril Mignot

  • Département de Génétique
  • Assistance publique – Hôpitaux de Paris
  • Inria Aramis Project-team Centre Paris-Rocquencourt
  • Sorbonne Université
  • Institut national de la santé et de la recherche médicale
  • Sorbonne Universités UPMC Univ Paris 06 INSERM CNRS
  • Universite Pierre et Marie Curie
  • Hôpital Armand Trousseau
  • Reference Center for Intellectual Disabilities of Rare Causes

External person

Gavin R. Oliver

  • Mayo Clinic Scottsdale, AZ
  • Department of Health Sciences Research, Mayo Clinic
  • Almac Diagnostics
  • Mayo Clinic Rochester, MN
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Biomedical Statistics
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Division of Biomedical Statistics and Informatics, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Biomedical Statistics and Informatics, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Department of Health Sciences Research, Mayo Clinic
  • Almac Group
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Kristiane Michellin-Tirelli

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

External person

Alexandra Afenjar

  • Unité de Gènètique Clinique
  • Assistance publique – Hôpitaux de Paris
  • Sorbonne Université
  • APHP
  • Centre de Référence Déficiences Intellectuelles de Causes Rares
  • Hôpital Armand Trousseau
  • Sorbonne Université
  • Universite Pierre et Marie Curie

External person

Cláudia F. Lorea

  • Universidade Federal de Pelotas
  • Mayo Clinic Rochester, MN

External person

Rory J. Olson

  • Mayo Clinic Rochester, MN
  • Department of Biochemistry and Molecular Biology, Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Dept. of Biochem. and Molec. Biology
  • Mayo Clinic College of Medicine and Science

External person

Megan Hager

  • Mayo Clinic Scottsdale, AZ

External person

Joel A. Morales-Rosado

  • University of Puerto Rico
  • Geriatrics Program
  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine, Mayo Clinic
  • Department of Health Sciences and Research, Mayo Clinic
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Jessica Tarnowski

  • Mayo Clinic Rochester, MN

External person

Sarah S. Barnett

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

External person

Carlos Thadeu Schmidt Cerski

  • Universidade Federal do Rio Grande do Sul
  • School of Medicine

External person

Alicia Dorneles

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

External person

E. M. Ribeiro

  • Associação Cearense de Doenças Genéticas
  • Albert Sabin Children's Hospital

External person

Odile Boespflug-Tanguy

  • Inserm UMR1141 Neuroprotect, Paris Diderot University, Sorbonne Cite
  • Université Paris 7
  • Hôpital Robert Debré AP-HP
  • Institut national de la santé et de la recherche médicale
  • Paris Diderot University
  • Assistance publique – Hôpitaux de Paris

External person

Avni Y. Joshi

  • Immunology, Mayo Clinic College of Medicine
  • Division of Pediatric Allergy and Immunology
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Allergic Diseases
  • Department of Pediatric and Adolescent Medicine
  • Division of Allergic Diseases
  • Department of Internal Medicine
  • Dept. of Internal Medicine and Pediatrics
  • Division of Allergic Diseases Research
  • Division of Pediatric Infectious Diseases
  • Department of Pediatrics and Internal Medicine
  • Department of Pediatrics
  • Division of Pediatric Infectious Diseases
  • Division of Allergy and Immunology
  • Division of Allergic Diseases
  • Division of Allergy and Immunology
  • Mayo Clinic College of Medicine and Science

External person

Lindsay A. Mulvihill

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Charles M. Lourenço

  • Universidade de São Paulo
  • National Reference Center for Rare Diseases
  • Centro Universitário Estácio

External person

Thierry Billette de Villemeur

  • Assistance publique – Hôpitaux de Paris
  • Institut national de la santé et de la recherche médicale
  • Sorbonne Université
  • Universite Pierre et Marie Curie
  • Hôpital Armand Trousseau

External person

David A. Koolen

  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Institute for Genetic and Metabolic Disease
  • Department of Human Genetics
  • Department of Neurology and Translational Metabolic Laboratory

External person

Aditi Gupta

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Center for Individualized Medicine
  • Mayo Clinic College of Medicine and Science

External person

Nikita R. Dsouza

  • Bioinformatics Research and Development Laboratory
  • Medical College of Wisconsin

External person

William A. Gahl

  • National Institutes of Health
  • NHGRI

External person

Roberta Reichert

  • Universidade Federal do Rio Grande do Sul

External person

Adeline Vanderver

  • Division of Neurology
  • University of Pennsylvania
  • Departments of Neurology
  • Children's National Medical Center
  • Department of Neurology
  • Departments of Neurology
  • Department of Medical Genetics and Pediatrics
  • Mayo Clinic Rochester, MN
  • George Washington University
  • School of Medicine & Health Sciences
  • CHOP
  • The Children's Hospital of Philadelphia

External person

Sun Huang

  • Department of Physiology and Pharmacology
  • University of Calgary

External person

Michael C. Kruer

  • Phoenix Children's Hospital
  • University of Arizona
  • Barrow Neurological Institute
  • Neuroscience Graduate Program
  • Sanford Research
  • Neurogenetics Research Program
  • Arizona State University
  • Pediatric Movement Disorders Center
  • Children's Health Research Center
  • Department of Child Health
  • Phoenix Children's Hospital
  • Sanford Health
  • Sanford Health
  • St. Joseph's Hospital and Medical Center, Phoenix

External person

Stephen B. Erickson

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Nephrology and Hypertension
  • Division of Nephrology and Hypertension
  • Division of Nephrology and Hypertension Department of Medicine
  • Division of Nephrology
  • Division of Nephrology and Hypertension
  • Division of Nephrology
  • Division of Nephrology and Hypertension
  • Department of Internal Medicine, Mayo Clinic
  • Division of Nephrology and Hypertension
  • Mayo Clinic College of Medicine and Science

External person

José Roberto Goldim

  • Universidade Federal do Rio Grande do Sul

External person

Jolene M. Summer Bolster

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Eleonora Di Gregorio

  • Department of Medical Sciences
  • University of Turin
  • Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
  • Az. Osp. Città della Salute e della Scienza

External person

Harshvardhan Rolyan

  • Department of Human Genetics, University of Pittsburgh
  • University of Pittsburgh

External person

Niklas Schwarz

  • University of Tübingen
  • Department of Neurology and Epileptology

External person

Christina Fagerberg

  • Odense University Hospital
  • University of Southern Denmark
  • Department of Clinical Genetics, Odense University Hospital

External person

Boudewijn Gunning

  • Epilepsy Institutes of the Netherlands Foundation

External person

Ivana A. Souza

  • Department of Physiology and Pharmacology
  • University of Calgary

External person

Kaya Bilguvar

  • Yale University
  • Anylan Center for Human Genetics and Genomics
  • Marmara University
  • Department of Genetics
  • Yale Center for Genome Analysis
  • Department of Neurosurgery

External person

Sergio Padilla-Lopez

  • University of Arizona
  • Phoenix Children's Hospital
  • Neurogenetics Research Program

External person

Lilia Farret Refosco

  • Universidade Federal do Rio Grande do Sul

External person

Anish Baswanth Chakka

  • University of Pittsburgh
  • Department of Biomedical Informatics

External person

Wasantha K. Ranatunga

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine
  • Department of Pediatric and Adolescent Medicine

External person

Maria Lisa Dentici

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Suzana Mittlestadt

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

External person

Ryan J. Kuisle

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

External person

Eleonore Eymard Pierre

  • CHU de Clermont-Ferrand

External person

Delphine Héron

  • Assistance publique – Hôpitaux de Paris
  • Sorbonne Université
  • Département de Génétique
  • Universite Pierre et Marie Curie

External person

Sabina Capellari

  • Case Western Reserve University
  • Dipartimento di Scienze Neurologiche
  • University of Bologna
  • Division of Neuropathology
  • Department of Neurological Sciences

External person

Joshua J. Baker

  • Harvard University
  • University of Illinois at Chicago

External person

Bruna Cristine Chwal

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

External person

Laura J. Fisher

  • Mayo Clinic Rochester, MN

External person

Marine I. Murphree

  • Mayo Clinic Rochester, MN
  • Division of Medical Genetics
  • Center for Individualized Medicine, Mayo Clinic
  • Clinical Genomics

External person

Amanda Quevedo

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

External person

Cherisse A. Marcou

  • Mayo Clinic Rochester, MN
  • Division of Hematology
  • Division of Pediatric Cardiology
  • Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic
  • Department of Medicine (Division of Cardiovascular Diseases)
  • Mayo Clinic College of Medicine and Science
  • Dept. Molec. Pharmacol. Exp. T.
  • Windland Smith Rice Sudden Death Genomics Laboratory
  • Division of Laboratory Genetics and Genomics
  • Department of Pediatrics

External person

Carolina Fischinger Moura de Souza

  • Universidade Federal do Rio Grande do Sul

External person

Fabiano de Oliveira Poswar

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

External person

Danielle Stubbolo

  • Alfred I. duPont Hospital for Children

External person

Daniela Lacerenza

  • Department of Medical Sciences
  • University of Turin

External person

Liane Daudt

  • Universidade Federal do Rio Grande do Sul
  • Department of Genetics

External person

R. G. Jarrar

  • Mayo Clinic Rochester, MN
  • Department of Neurology
  • Department of Child Health
  • University of Arizona
  • Department of Neurology

External person

Alessandro Brussino

  • Department of Medical Sciences
  • University of Turin

External person

Niklas Dahl

  • Uppsala University Hospital
  • University of Uppsala
  • Uppsala University
  • Lund University
  • Karolinska Institutet
  • Department of Clinical Genetics, Karolinska University Hospital
  • Department of Oncology, Lund University Hospital
  • Department of Medical Genetics
  • Department of Medical Genetics
  • Women's and Children's Hospital Adelaide
  • Department of Cytogenetics and Molecular Genetics

External person

M. C. França

  • Department of Neurology
  • Universidade Estadual de Campinas

External person

Helenius J. Schelhaas

  • Radboud University Nijmegen Medical Center
  • Radboud University Nijmegen
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology
  • Department of Neurology/Clinical Neurophysiology
  • Dept. of Neurology
  • Academic Center for Epileptology
  • Department of Neurology
  • Kempenhaeghe Epilepsy Centre
  • Department of Neurology
  • Epilepsy Institutes of the Netherlands Foundation
  • Maastricht University

External person

Julien Buratti

  • Assistance publique – Hôpitaux de Paris
  • Sorbonne Université
  • Universite Pierre et Marie Curie

External person

Xue Zeng

  • Yale University

External person

S. G. Peters

  • Mayo Clinic Rochester
  • Mayo Foundation
  • Mayo Clinic College of Medicine
  • Saint Marys Hospital
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • University of Alabama
  • University of Montreal
  • Mayo Clinic
  • Division of Pulmonary and Critical Care Medicine
  • Division of Hematology
  • Department of Medicine
  • Division of Pulmonary and Critical Care Medicine, Mayo Clinic
  • Division of Pulmonary and Critical Care Medicine
  • Department of Internal Medicine
  • Pulmonary and Critical Care Medicine
  • Division of Infectious Diseases William J von Liebig Ctr. Transplantation and Clinical Regeneration
  • Division of Pulmonary and Critical Care Medicine
  • Division of Pulmonary and Critical Care Medicine
  • Division of Pulmonary and Critical Care
  • Division of Thoracic Diseases
  • Mayo Clinic
  • Department of Diagnostic Radiology
  • Division of Anatomic Pathology
  • Section of Biostatistics
  • Division of General Internal Medicine
  • Division of Pulmonary and Critical Care Medicine and Internal Medicine
  • Division of Pulmonary and Critical Care Medicine
  • Hematology Division
  • Multidisciplinary Epidemiology and Translational Research in Intensive Care (METRIC) Laboratory
  • William J Von Liebig Transplant Ctr.
  • Div. Pulmon. Critical Care Med. I.
  • Div. Pulmon. and Critical Care Med.
  • Division of Hematology
  • College of Medicine
  • Mayo Clinic
  • Division of Pulmonary and Critical Care Medicine
  • Division of Thoracic Diseases and Internal Medicine
  • Department of Internal Medicine, Mayo Clinic
  • Division of Pulmonary and Critical Care
  • Dept. of Psychiatry and Psychology
  • Critical Care Service
  • William J von Liebig Transplant Center
  • Division of Pulmonary and Critical Care Medicine
  • Mayo Clinic College of Medicine and Science

External person

Pierre Labauge

  • CHU Montpellier
  • Hôpital Carémeau
  • Hôpital Gui de Chauliac
  • Montpellier
  • Université de Montpellier

External person

Kristin Lindstrom

  • Division of Genetics and Metabolism
  • Phoenix Children's Hospital
  • Phoenix Children’s Hospital
  • Phoenix Children's Hospital

External person

Giovanna Vaula

  • Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
  • Az. Osp. Città della Salute e della Scienza

External person

Kirsty McWalter

  • GeneDX Inc
  • OPKO Health, Inc.

External person

Rebecca J. Lowy

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Oren S. Cohen

  • Tel Aviv University
  • Sheba Medical Center at Tel Hashomer

External person

Osvaldo Artigalás

  • Hospital Materno Infantil Presidente Vargas
  • Grupo Hospitalar Conceição
  • Hospital da Criança Conceição

External person

Graem Preston

  • Hayward Genetics Center
  • Tulane University
  • Hayward Genetics Center
  • Mayo Clinic Rochester, MN
  • Clinical Genomics

External person

Gabriela Pasqualim

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

External person

Brittany C. Thomas

  • Mayo Clinic Rochester
  • Mayo Clinic College of Medicine
  • Mayo Clinic School of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Laboratory Genetics and Genomics
  • Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine and Pathology
  • Division of Laboratory Genetics, Molecular Genetics
  • Illumina, Inc.
  • Mayo Clinic College of Medicine and Science

External person

Mark A. Corbett

  • University of Adelaide

External person

Maria Isabel Achatz

  • National Institute of Science and Technology in Oncogenomics
  • Department of Oncogenetics
  • Hospital A.C. Camargo
  • National Institutes of Health
  • Clinical Genetics Branch
  • Hospital Sirio-Libanes

External person

Lourenco Charles Marques

  • Universidade de São Paulo

External person

Emily C. Lisi

  • Mayo Clinic Rochester, MN

External person

Misbah Baqir

  • Mayo Clinic Rochester, MN
  • Division of Pulmonary and Critical Care Medicine, Mayo Clinic
  • Department of Internal Medicine, Mayo Clinic
  • Division of Pulmonary and Critical Care
  • Division of Hematology
  • Mayo Clinic College of Medicine and Science
  • Division of Pulmonary and Critical Care Medicine
  • Mayo Clinic College of Medicine and Science

External person

P. Mandich

  • Institute of Biology and Genetics
  • University of Genova
  • University of Genoa
  • University of Genoa
  • Institute of Biology and Genetics
  • Department of Oncology Biology and Genetics
  • Inst. of Biology/Genetics
  • Department of Biomedical and NeuroMotor Sciences (DIBINEM) Alma Mater Studiorum
  • San Martino Hospital Genoa
  • Istituto di Ricovero e Cura A Carattere Scientifico Policlinico
  • Instituto Nazionale per la Ricerca sul Cancro

External person

Jorge Sequeiros

  • i3S-Instituto de Investigação e Inovação em Såude
  • University of Porto

External person

Davut Pehlivan

  • BCM
  • Baylor College of Medicine
  • Texas Children's Hospital Houston

External person

Jessica L. Jackson

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

External person

Betül Uysal

  • University of Tübingen
  • Department of Neurology and Epileptology

External person

Bárbara C. Krug

  • Universidade Federal do Rio Grande do Sul

External person

Maria A. Gandini

  • Department of Physiology and Pharmacology
  • University of Calgary

External person

Madhavi Ganapathiraju

  • University of Pittsburgh
  • Department of Biomedical Informatics

External person

J. P. Scott

  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Royal Papworth Hospital NHS Foundation Trust
  • Division of Pulmonary and Critical Care Medicine
  • Mayo Clinic College of Medicine and Science
  • Papworth Hospital

External person

Carrie A. Lahner

  • Department of Laboratory Medicine and Pathology; Genomics Laboratory
  • Mayo Clinic Rochester, MN

External person

Grace Hobson

  • University of Delaware
  • Alfred I. duPont Hospital for Children
  • Thomas Jefferson University

External person

Clévia Rosset

  • Universidade Federal do Rio Grande do Sul

External person

Suzana Mittelstadt

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

External person

Louise L. de Camargo Pinto

  • Hospital Infantil Joana de Gusmão

External person

Maria Luiza Saraiva-Pereira

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

External person

Matheus Camargo

  • Universidade Federal do Rio Grande do Sul
  • School of Medicine
  • Department of Genetics

External person

Sharon Hassin-Baer

  • Sackler Faculty of Medicine, Tel Aviv University
  • Tel Aviv University
  • The Parkinson Disease and Movement Disorders Clinic
  • Sheba Medical Center at Tel Hashomer

External person

Eric Payne

  • Mayo Clinic Rochester, MN
  • Department of Neurology
  • Division of Child and Adolescent Neurology and Epilepsy
  • Mayo Clinic College of Medicine and Science
  • Mayo Alzheimer’s Disease Research Center
  • Department of Pediatrics
  • University of Calgary
  • Alberta Children's Hospital
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Scottsdale, AZ

External person

Mario Reis Álvares-da-Silva

  • Universidade Federal do Rio Grande do Sul
  • School of Medicine

External person

Somayeh Bakhtiari

  • Department of Child Health
  • University of Arizona
  • Phoenix Children's Hospital
  • St. Joseph's Hospital and Medical Center, Phoenix

External person

Atle Melberg

  • Uppsala University
  • Department of Neuroscience

External person

Flavia Talarico

  • Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
  • Az. Osp. Città della Salute e della Scienza

External person

Nicholas Smith

  • University of Adelaide

External person

P. B. Winckler

  • Universidade Federal do Rio Grande do Sul

External person

Sandra Leistner-Segal

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

External person

Eric Haan

  • University of Adelaide
  • Women's and Children's Hospital Adelaide
  • Adelaide Children's Hospital
  • Department of Medical Genetics
  • South Australian Clinical Genetics Service
  • University Department of Paediatrics
  • Peter Maccallum Cancer Centre
  • School of Medicine
  • Dept. of Med. Genet. and Epidemiol.
  • Centre for Medical Genetics
  • Adult Genetics Unit
  • Department of Cytogenetics and Molecular Genetics
  • Royal Adelaide Hospital

External person

Kristina P. Soerensen

  • Department of Clinical Genetics, Odense University Hospital
  • University of Southern Denmark

External person

W. Garrett Jenkinson

  • Mayo Clinic Rochester, MN
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Pietro Cortelli

  • Dipto. di Scienze Neurologiche
  • Harvard University
  • University of Bologna
  • IRCCS Istituto Ortopedico Rizzoli - Bologna
  • Department of Neurology
  • Alma Mater Studiorum-Universitá di Bologna
  • Department of Biomedical and Neuromotor Sciences
  • Istituto di Ricovero e Cura a Carattere Scientifico
  • Dipartimento di Scienze Biomediche e Neuromotorie
  • IRCCS Istituto delle Scienze Neurologiche di Bologna
  • Ospedale Bellaria
  • IRCCS Foundation Rome
  • IRCCS Istituto di Scienze Neurologiche
  • Beth Israel Deaconess Medical Center

External person

James R. Lupski

  • Baylor College of Medicine
  • Texas Children's Hospital Houston

External person

Jean Pierre Bouchard

  • Université Laval

External person

Peter Witters

  • KU Leuven
  • Department of Pediatrics
  • Department of Development and Regeneration
  • Metabolic Center
  • Department of Metabolic Diseases
  • Department of Pediatric Hepatology
  • Urology
  • Department of Gastroenterology-Hepatology and Metabolic Center
  • Centre for Metabolic Diseases
  • Faculty of Medicine
  • Department of Pediatrics

External person

Luiz Fernando Würdig Roesch

  • Universidade Federal do Pampa
  • University of Florida

External person

Diego Miguel

  • Universidade Federal do Rio Grande do Sul

External person

Maria Kibaek

  • University of Southern Denmark
  • Department of Clinical Genetics, Odense University Hospital

External person

Shakila P. Khan

  • Texas Children's Cancer Center and Hematology Service
  • Mayo Clinic Rochester, MN
  • Division of Pediatric Hematology/Oncology
  • Department of Pediatric and Adolescent Medicine
  • Department of Pediatric and Adolescent Medicine
  • Division of Hematology and Blood and Marrow Transplantation
  • Section of Pediatric Hematology/Oncology
  • Department of Pediatrics
  • Texas Children's Cancer Center and Hematology Service
  • Division of Hematology
  • Division of Pediatric Hematology/Oncology

External person

Juliano Adams Pérez

  • Universidade Federal do Rio Grande do Sul

External person

Andressa Federhen

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

External person

Guy A. Rouleau

  • McGill University
  • McGill Parkinson Program
  • Department of Human Genetics
  • Centre Hospitalier de l'Université de Montréal Research Center
  • University of Montreal
  • Department of Neurology and Neurosurgery
  • Mood Disorders Program
  • Université de Montréal
  • Research Center
  • Department of Medicine
  • Centre of Excellence in Neuromics
  • Centre of Excellence in Neuromics
  • Department of Medicine
  • University Medicine Greifswald
  • Indiana University-Purdue University Indianapolis
  • Department of Medicine
  • Notre Dame Hospital
  • Harvard University
  • Centre for Research in Neuroscience
  • Heidelberg University 
  • University of Queensland
  • KU Leuven
  • Department of Neurology
  • Pathology and Cellular Biology Department
  • University of Greifswald
  • The University of Queensland
  • Icahn School of Medicine at Mount Sinai
  • Centre de recherche du Centre hospitalier de l’Université de Montréal
  • University of Montreal
  • National Institute of Mental Health
  • Massachusetts General Hospital
  • University of Gothenburg

External person

Kristen J. Rasmussen

  • Mayo Clinic Rochester, MN

External person

Brent L. Fogel

  • University of California at Los Angeles
  • Department of Neurology, David Geffen School of Medicine, University of California

External person

Erik Jan Kamsteeg

  • Radboud University Nijmegen
  • University of Sydney
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Faculty of Medicine

External person

C. Toro

  • National Institutes of Health, National Human Genome Research Institute
  • NIH
  • National Institutes of Health, Bethesda
  • National Cancer Institute United States
  • National Institutes of Health
  • Office of the Clinical Director
  • Undiagnosed Diseases Program
  • Office of the Director

External person

Patrícia H. Salim

  • Universidade Federal do Rio Grande do Sul

External person

Robert J. Lauerer

  • University of Tübingen
  • Department of Neurology and Epileptology

External person

Tiago Koppe

  • Universidade Federal do Rio Grande do Sul
  • School of Medicine
  • Department of Genetics

External person

Pâmela Portela

  • Universidade Federal do Rio Grande do Sul

External person

Luiz Fernando Jobim

  • Universidade Federal do Rio Grande do Sul

External person

Rastislav Pjontek

  • Heidelberg University 
  • Molecular Neuroimmunology, Department of Neurology, University of Heidelberg

External person

Cláudia Vanzella

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

External person

Linda Hasadsri

  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Mayo Clinic Rochester, MN
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Laboratory Medicine and Pathology; Genomics Laboratory
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Laboratory Genetics and Genomics
  • Molecular Genetics Laboratory
  • Radboud Center for Mitochondrial Medicine
  • Radboud University Nijmegen

External person

Tobias B. Haack

  • Institute of Medical Genetics and Applied Genomics
  • Institute of Human Genetics
  • Technical University of Munich
  • University of Tübingen
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Institute of Human Genetics
  • Institute of Medical Genetics and Applied Genomics

External person

Katja Boysen

  • University of Melbourne
  • Epilepsy Research Centre

External person

Candace T. Myers

  • University of Melbourne
  • Departments of Medicine and Paediatrics
  • University of Washington
  • Division of Genetic Medicine
  • Section of Neonatology

External person

Michael Stephens

  • Medical College of Wisconsin
  • Department of Pediatrics
  • Mayo Clinic Rochester, MN
  • Pediatric Gastroenterology
  • Mayo Clinic College of Medicine and Science

External person

Antigone Papavasileiou

  • Department of Pediatric Neurology
  • Penteli Children's Hospital

External person

Elisa Giorgio

  • Department of Medical Sciences
  • University of Turin

External person

Scott A. Beck

  • Mayo Clinic Rochester, MN
  • Center for Individualized Medicine, Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Laura Rust

  • Mayo Clinic Rochester, MN

External person

Alfredo Brusco

  • Department of Medical Sciences
  • University of Turin
  • Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
  • Az. Osp. Città della Salute e della Scienza

External person

Dafne D. Horovitz

  • Fundação Oswaldo Cruz
  • Medical Genetics Service

External person

Svetlana Yatsenko

  • Department of Obstetrics
  • Department of Pathology (Neuropathology), University of Pittsburgh
  • University of Pittsburgh

External person

Armin J. Grau

  • Klinikum Ludwigshafen
  • Department of Neurology

External person

Jordana Fox

  • University of Arizona

External person

Quasar S. Padiath

  • University of Pittsburgh
  • Department of Pathology and Human Genetics
  • Department of Human Genetics, University of Pittsburgh

External person

L. S.M. Bueno

  • Hospital Infantil Nossa Senhora da Glória
  • Universidade Federal da Bahia
  • Complexo Hospitalar Professor Edgard Santos

External person

Thomas Klopstock

  • German Center for Neurodegenerative Diseases
  • Munich Cluster for Systems Neurology (SyNergy)
  • Ludwig Maximilian University of Munich
  • Department of Neurology
  • German Network for Mitochondrial Disorders
  • Munich Cluster for Systems Neurology (SyNergy)

External person

K. C. Donis

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

External person

Jacqueline C. Bahr

  • University of Tübingen
  • Department of Neurology and Epileptology

External person

Leonardo Vedolin

  • Diagnosticos da America
  • Mayo Clinic Rochester, MN
  • Dasa

External person

Inge Meijer

  • McGill University
  • University of Montreal

External person

Sheng Chih Jin

  • Washington University St. Louis
  • Washington University School of Medicine
  • Department of Psychiatry, Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine
  • Yale University
  • Department of Genetics

External person

Stéphanie Valence

  • Assistance publique – Hôpitaux de Paris
  • APHP
  • Sorbonne Université
  • Universite Pierre et Marie Curie
  • Hôpital Armand Trousseau

External person

Katherine L. Helbig

  • Division of Clinical Genomics
  • Division of Neurology
  • University of Pennsylvania
  • University of Tübingen
  • Department of Neurology and Epileptology
  • Ambry Genetics
  • The Children's Hospital of Philadelphia

External person

Changlian Zhu

  • Zhengzhou University
  • University of Gothenburg
  • University of Michigan, Ann Arbor

External person

Laura Kropp

  • Department of Human Genetics, University of Pittsburgh
  • University of Pittsburgh

External person

Sônia Lueska

  • Universidade Federal do Rio Grande do Sul

External person

Sebastien Jacquemont

  • University of Montreal

External person

Carson J. Bryant

  • Yale University

External person

Agnes Bloch-Zupan

  • Hôpital civil
  • Université de Strasbourg

External person

Franciele Cabral Pinheiro

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal do Pampa

External person

Dimah Saade

  • National Institutes of Health
  • University of Iowa

External person

Fabíola Paoli Monteiro

  • Mendelics Genomic Analysis
  • Mendelics Genomic Analysis

External person

Matthew J. Schultz

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

External person

Mohamed Abu-Farha

  • Department of Biochemistry and Molecular Biology
  • Dasman Diabetes Institute (DDI)
  • Dasman Diabetes Institute

External person

C. D. Marrone

  • Clínica Marrone

External person

Devesh C. Pant

  • Bellvitge Biomedical Research Institute (IDIBELL)
  • CIBER - Center for Biomedical Research Network
  • Bellvitge Biomedical Research Institute
  • Instituto de Salud Carlos III

External person

J. Austin Hamm

  • East Tennessee Children's Hospital

External person

Amir B. Orandi

  • Mayo Clinic Rochester, MN
  • Division of Rheumatology

External person

Ali AlSahow

  • Division of Nephrology
  • Al-Jahra Hospital

External person

Daniel Calame

  • BCM
  • Baylor College of Medicine
  • Texas Children's Hospital Houston

External person

A. Nucci

  • Department of Neurology
  • Universidade Estadual de Campinas

External person

Laura M. Amendola

  • University of Washington
  • Clinical Sequencing Exploratory Research Coordinating Center
  • Department of Medicine, Division of Cardiology, University of Washington
  • Division of Medical Genetics
  • PNW Research Station
  • Illumina, Inc.

External person

Jizi Khadijé

  • University of Montreal

External person

C. Bacino

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • BCM
  • BCM
  • Texas Children's Hospital Houston

External person

Nara Lygia de M. Sobreira

  • Division of Neonatology
  • Johns Hopkins University

External person

Juliana Ávila Duarte

  • Universidade Federal do Rio Grande do Sul

External person

Sara Loddo

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Dong Chen

  • Mayo Clinic Rochester, MN
  • Divisions of Hematology and Hematopathology
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Division of Hematology, Mayo Clinic
  • Mayo Clinic College of Medicine and Science
  • Division of Hematopathology
  • Department of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine and Pathology
  • Department of Laboratory Medicine
  • Department of Laboratory Medicine and Pathology
  • Dept. of Lab. Medicine and Pathology
  • Department of Pathology (H.D.T.), Mayo Clinic
  • College of Medicine
  • Mayo Clinic College of Medicine and Science

External person

Márcia Gonçalves Ribeiro

  • Universidade Federal do Rio de Janeiro

External person

Melik Malek Khelifa

  • Hannover Medical School

External person

Christopher Grunseich

  • National Institutes of Health

External person

Fernanda Gabriel Santos da Silva

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

External person

Anna Maria Cueto-González

  • Vall d'Hebron Barcelona Hospital Campus
  • European Reference Networks for rare

External person

Ilse M. van der Werf

  • Department of Medical Genetics
  • University of Antwerp

External person

Maria Cristina Munerato

  • Universidade Federal do Rio Grande do Sul

External person

Camilo Silva

  • Waters technologies do Brazil

External person

Vitor Chaves

  • Waters technologies do Brazil

External person

João I.C.F. Neri

  • Centro Especializado em Reabilitação e Habilitação

External person

Michelle Sanchez Vega

  • University of Queensland
  • Queensland Brain Institute

External person

Maria J. Guillen Sacoto

  • GeneDX Inc
  • Clinical Genomics Program
  • OPKO Health, Inc.

External person

Jill Rosenfeld

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

External person

James J. Pitt

  • Murdoch Children's Research Institute

External person

Tawfiq Froukh

  • Philadelphia University

External person

Elizabeth H. Ristagno

  • Mayo Clinic Rochester, MN
  • Department of Pediatric and Adolescent Medicine

External person

Raymond J. Louie

  • Greenwood Genetics Center
  • Greenwood Genetics Center

External person

Ejigayehu G. Abate

  • Mayo Clinic Jacksonville, FL
  • Division of Endocrinology and Metabolism
  • Division of Endocrinology
  • Division of Gastroenterology and Hepatology

External person

Syed Anas Ahmed

  • University Health Network

External person

Augusto César Cardoso-Dos-santos

  • Albert Sabin Children's Hospital

External person

Javier Joya

  • Bellvitge Biomedical Research Institute (IDIBELL)
  • CIBER - Center for Biomedical Research Network
  • Bellvitge Biomedical Research Institute
  • Instituto de Salud Carlos III

External person

Arianna Maiorana

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Rudinei Luis Correia

  • Universidade Federal do Rio Grande do Sul

External person

Tamara T. Koopmann

  • Academic Medical Center
  • University of Amsterdam
  • Heart Failure Research Center
  • Department of Cardiology
  • Labatt Family Heart Centre (Department of Pediatrics) and Translational Medicine
  • University of Toronto
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam
  • Leiden University

External person

Bruna B. dos Santos

  • Universidade Federal do Rio Grande do Sul

External person

Ute Spiekerkoetter

  • Department of Pediatrics
  • University of Freiburg

External person

Meredith A. Weaver

  • American College of Medical Genetics
  • American College of Medical Genetics

External person

Sabine Grønborg

  • Department of Clinical Genetics
  • University of Copenhagen

External person

Maurício Anés

  • Universidade Federal do Rio Grande do Sul

External person

Ana Vitoria Barban Margutti

  • Universidade de São Paulo

External person

Rhadika Dhamija

  • Mayo Clinic Scottsdale, AZ

External person

Katharina Steindl

  • University of Zurich

External person

Elicia A. Estrella

  • Harvard University
  • Boston Children's Hospital

External person

Carolina Fischinger Moura De Souza

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

External person

Susan M. White

  • University of Melbourne
  • Murdoch Children's Research Institute
  • Victorian Clinical Genetics Services

External person

Suzy Alexander

  • University of Queensland
  • Queensland Centre for Mental Health Research

External person

Peter B. Kang

  • University of Florida
  • University of Minnesota Twin Cities

External person

Julie Désir

  • Université libre de Bruxelles

External person

S. L. Cossio

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

External person

Maria Clara Sá Miranda

  • University of Porto

External person

Laurence Colleaux

  • Institut Imagine
  • Institut national de la santé et de la recherche médicale
  • Université Paris 5
  • Université Paris Cité
  • Université Sorbonne Paris Cité

External person

Azita Sadeghpour

  • Duke University

External person

Marta Florio

  • Broad Institute
  • Harvard University

External person

Heryk Motta de Souza

  • Universidade Federal do Rio Grande do Sul

External person

Tristan Rey

  • Université de Strasbourg

External person

Antoine N. Saliba

  • Mayo Clinic Rochester, MN
  • American University of Beirut

External person

Karine Siquier-Pernet

  • Institut Imagine
  • Institut national de la santé et de la recherche médicale
  • Université Paris 5
  • Université Paris Cité
  • Université Sorbonne Paris Cité

External person

Alistair Mathie

  • University of Kent
  • Medway School of Pharmacy
  • University of Suffolk

External person

Huifang Yan

  • Department of Pediatrics
  • University of Michigan, Ann Arbor
  • Peking University

External person

L. M.S. Moura

  • Universidade de São Paulo

External person

Kirill A. Martemyanov

  • Scripps Research Institute
  • University of Florida

External person

Deepti Vellaichamy Manian

  • Mayo Clinic Rochester, MN

External person

Ariadna Campos Martorell

  • Vall d'Hebron Barcelona Hospital Campus
  • Autonomous University of Barcelona

External person

Vikas Bhambhani

  • University of Minnesota Twin Cities
  • Children's Hospitals and Clinics of Minnesota

External person

Eva H. Baker

  • University of Minnesota Twin Cities
  • Department of Radiology
  • Department of Radiology
  • Center for Magnetic Resonance Research
  • National Institutes of Health

External person

Murim Choi

  • Yale University
  • School of Medicine
  • Department of Biomedical Sciences
  • Seoul National University

External person

Raquel Fernandez

  • American College of Medical Genetics

External person

Mark Tarnopolsky

  • McMaster University
  • Division of Hematology/Oncology
  • Department of Medicine
  • McMaster University
  • National Institutes of Health
  • Hamilton Health Sciences

External person

Nebal Waill Saadi

  • University of Baghdad
  • Baghdad Medical City

External person

Sarah R. Senum

  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Nephrology and Hypertension
  • Division of Nephrology and Hypertension
  • Division of Nephrology and Hypertension
  • Mayo Clinic College of Medicine and Science

External person

Hiroshi Arai

  • Bobath Memorial Hospital

External person

Christina Hung

  • Invitae Corporation

External person

Letícia Machado Rosa Da Silva

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

External person

Kenji Yokochi

  • Toyohashi Municipal Hospital
  • Seirei Mikatahara General Hospital

External person

M. Raynaud

  • Centre Hospitalier Régional Universitaire
  • Institut national de la santé et de la recherche médicale
  • Université de Tours
  • Inserm U930 Imaging and Brain
  • Centre Hospitalier Régional Universitaire de Tours

External person

R. Caswell

  • University of Exeter
  • Institute of Clinical and Biomedical Science

External person

Keri Ramsey

  • Translational Genomics Research Institute
  • Neurogenomics Division, Translational Genomics Research Institute
  • Center for Rare Childhood Disorders

External person

Lavínia Schüler-Faccini

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

External person

Flavien Rouxel

  • Université de Montpellier

External person

Mathilde Nizon

  • CHU de Nantes
  • Service de Génétique Médicale, CHU Nantes
  • Nantes Université
  • CHU Nantes

External person

Abigail R. Benkert

  • Clinic for Special Children

External person

Hiram Larangeira De Almeida

  • Universidade Federal de Pelotas

External person

James P. Simmer

  • University of Michigan, Ann Arbor
  • School of Dentistry

External person

Cristina Brinckmann De Oliveira Netto

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

External person

Peter M. VanHasselt

  • Department of Metabolic Diseases
  • Utrecht University

External person

S. T. Pittock

  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Endocrinology, Mayo Clinic
  • Division of Gastroenterological and General Surgery
  • Department of Pediatric and Adolescent Medicine
  • Department of Pediatrics
  • Department of Pediatric and Adolescent Medicine
  • Pediatric Endocrinology and Metabolism
  • Department of Pediatric Endocrinology
  • Mayo Clinic College of Medicine and Science

External person

Luciana Hannibal

  • University of Freiburg

External person

Shalini N. Jhangiani

  • Baylor College of Medicine
  • Human Genome Sequencing Center
  • BCM

External person

Moses Lee

  • Department of Biomedical Sciences
  • Seoul National University

External person

Emília Katiane Embiruçu

  • Universidade Federal da Bahia

External person

A. Reghan Foley

  • National Institutes of Health

External person

Deeksha Bali

  • Duke University Medical Center
  • Duke University
  • Mayo Clinic Rochester, MN
  • Radboud University Nijmegen
  • Department of Pediatrics
  • Department of Pediatrics

External person

M. L. Zanotelli

  • Santa Casa de la Misericordi de Porto Alegre
  • Santa Casa de la Misericordi de Porto Alegre
  • Universidade Federal do Rio Grande do Sul

External person

Nataniel Ludwig

  • Universidade Federal do Rio Grande do Sul

External person

Fernanda Veiga De Goes

  • Fundação Oswaldo Cruz

External person

Evandro Bezerra

  • Mayo Clinic Rochester, MN
  • T Cell Engineering
  • Division of Hematology
  • Ohio State University

External person

Vanda McNiven

  • University of Toronto
  • University Health Network

External person

Luciana Giugliani

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

External person

Sonja Neuser

  • Leipzig University

External person

Gabriel Civallero

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

External person

Thierry Dupré

  • Inserm U1149, Centre de Recherche Sur l'Inflammation (CRI)

External person

Joan M. Steyermark

  • Mayo Clinic Rochester, MN

External person

Atallah Isis

  • University of Lausanne

External person

Matias Wagner

  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Technical University of Munich
  • Ludwig Maximilian University of Munich

External person

Gladys Battisti

  • Institut de Pathologie et de Genetique Asbl

External person

A. Balasubramanyam

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

External person

Henrique De Campos Reis Galvão

  • Hospital de Câncer de Barretos

External person

Jennifer McGlaughon

  • Invitae Corporation

External person

Kevin Mills

  • University College London
  • Great Ormond Street Hospital for Children NHS Trust

External person

Ana L. Creo

  • Mayo Clinic Rochester, MN
  • Division of Endocrinology, Mayo Clinic
  • Department of Pediatric and Adolescent Medicine
  • Division of Pediatric Endocrinology
  • Pediatric Endocrinology and Metabolism

External person

Leticia Weinert

  • Universidade Federal de Pelotas

External person

K. Hussain

  • University College London
  • Developmental Endocrinology Research Group
  • National Health Service
  • Great Ormond Street Hospital for Children NHS Trust

External person

Luis Bello-Espinosa

  • University of Calgary
  • Department of Pediatrics
  • Orlando Regional Medical Center

External person

Flavia Feier

  • Hospital Santa Casa de Misericórdia
  • Hospital Sirio-Libanes

External person

Qinghe Xin

  • Shanghai Jiao Tong University
  • Fudan University

External person

S. E. Flanagan

  • University of Exeter
  • Institute of Clinical and Biomedical Science

External person

Petra Ketteler

  • University of Duisburg-Essen

External person

Cyrus Boelman

  • University of British Columbia

External person

Usha Kini

  • St. John's National Academy of Health Sciences
  • Department of Pathology
  • Department of Pathology
  • Oxford University Hospitals NHS Foundation Trust

External person

Imen Dorboz

  • Université Paris 7
  • Paris Diderot University

External person

Oana Caluseriu

  • University of Alberta

External person

Mónica Luján López

  • Universidade Federal do Rio Grande do Sul

External person

Saima Kayani

  • University of Texas Southwestern Medical Center

External person

Carsten Bönnemann

  • National Cancer Institute United States
  • Royal Alexandra Hosp. for Children
  • University of Sydney
  • National Institutes of Health
  • Neurogenetics Branch
  • Neuromuscular and Neurogenetic Disorders of Childhood Section
  • Neurogenetics Research Unit
  • National Institutes of Health, Bethesda
  • The Children's Hospital at Westmead

External person

Ana Carolina de Freitas Lopes

  • Ministério da Saúde do Brasil

External person

Javier Terriente

  • ZeClinics SL
  • Pompeu Fabra University
  • Biomedical Research Park of Barcelona (PRBB)

External person

Rupa Udani

  • University of Wisconsin-Madison

External person

Lauren M. Jackson

  • Mayo Clinic Rochester, MN

External person

Soraia Poloni

  • Universidade Federal do Rio Grande do Sul

External person

Matthew Webley

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

External person

Daniela Choukair

  • Heidelberg University 

External person

Priscila Thiago Dobbler

  • Universidade Federal do Pampa

External person

Giulia Polo

  • Azienda Ospedaliera di Padova

External person

Kayla J. Kolbert

  • Mayo Clinic Rochester, MN

External person

K. M. Santiago

  • Hospital A.C. Camargo

External person

Antonio Novelli

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

André Anjos Da Silva

  • UNIVATES University

External person

Julie S. Cohen

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

External person

Otavio B. Piltcher

  • Universidade Federal do Rio Grande do Sul

External person

Angela R. Smith

  • University of Minnesota Twin Cities
  • Masonic Cancer Center
  • Department of Pediatrics

External person

Rita Barone

  • Pediatric Neurology
  • University of Catania

External person

Pascal Joset

  • University of Zurich
  • University of Basel

External person

Joao Seda Neto

  • Hospital Sirio-Libanes

External person

Yorran Hardman Araújo Montenegro

  • Universidade Federal do Rio Grande do Sul

External person

Bryce A. Seifert

  • Department of Genetics
  • University of North Carolina at Chapel Hill
  • National Institutes of Health

External person

L. V.B. Magalhães

  • Universidade Federal de Viçosa

External person

Edina Poletto

  • Universidade Federal do Rio Grande do Sul

External person

Francesca Clementina Radio

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Deepti Domingo

  • University of Adelaide

External person

Lindsey B. Sawyer

  • Eastern Virginia Medical School

External person

Elizabeth J. Cathcart-Rake

  • Mayo Clinic Rochester, MN
  • Department of Medical Oncology
  • Department of Internal Medicine, Mayo Clinic
  • Department of Oncology, Mayo Clinic
  • Departments of Oncology
  • Division of Hematology, Mayo Clinic
  • Division of Medical Oncology
  • Saint Luke's Cancer Institute
  • St Luke Hospital Kansas City
  • Saint Luke’s Cancer Specialists
  • University of Missouri at Kansas City

External person

Carlos Casasnovas

  • Instituto de Salud Carlos III
  • Hospital Universitario Mútua Terrassa
  • Bellvitge Biomedical Research Institute

External person

Dona M. Kanavy

  • Department of Genetics
  • University of North Carolina at Chapel Hill
  • Duke University

External person

Margot Van Allen

  • University of British Columbia
  • Child and Family Research Institute, Canada

External person

Servi J.C. Stevens

  • Maastricht University

External person

Márcia Lorena Fagundes Chaves

  • Universidade Federal do Rio Grande do Sul

External person

Ying Hu

  • National Institutes of Health

External person

Sheldon G. Waugh

  • Department of Epidemiology
  • University of Florida

External person

Alexandre R. Vieira

  • University of Pittsburgh
  • Department of Human Genetics, University of Pittsburgh

External person

Jose Simon Camelo

  • Universidade de São Paulo

External person

Cláudia Sobreira

  • Universidade de São Paulo

External person

J. P.D. Neto

  • Hospital A.C. Camargo

External person

Maria Lúcia Alves Pedroso

  • Universidade Federal do Paraná

External person

Sidney Behringer

  • University of Freiburg

External person

Dimitar Gavrilov

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

External person

Matthew Howard

  • Mayo Clinic Rochester
  • Mayo Clinic Rochester, MN
  • From the Division of Hematopathology
  • Divisions of Hematology and Hematopathology
  • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
  • Department of Laboratory Medicine and Pathology
  • Department of Pathology (H.D.T.), Mayo Clinic
  • Department of Internal Medicine, Mayo Clinic
  • Schulze Center for Novel Therapeutics, Mayo Clinic
  • Department of Anatomic Pathology and Laboratory Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic College of Medicine and Science

External person

Koen L. van Gassen

  • Division of Biomedical Genetics
  • Utrecht University

External person

S. A. de Munnik

  • Department of Pediatrics and IGMD
  • Radboud University Nijmegen
  • Donders Institute for Brain
  • Centre for Neuroscience
  • Department of Neurology

External person

Ana Paula Kurz De Boer

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

External person

A. C. D'Abreu

  • Department of Neurology
  • Universidade Estadual de Campinas

External person

Aurora Pujol

  • Bellvitge Biomedical Research Institute
  • Spanish Network on Rare Diseases (CIBERER)
  • ICREA Catalan Institution for Research and Advanced Studies
  • Bellvitge Biomedical Research Institute (IDIBELL)
  • Hospital Duran i Reynals
  • CIBER - Center for Biomedical Research Network
  • Neurometabolic Diseases Laboratory,
  • ICREA
  • Hospital Durán i Reynals
  • Instituto de Salud Carlos III
  • Centro de Investigación Biomédica en Red

External person

Michael S. Watson

  • American College of Medical Genetics
  • American Society Nuclear Cardiology
  • American College of Medical Genetics
  • Self-employed

External person

W. Edward Visser

  • Erasmus University Rotterdam

External person

Montserrat Ruiz

  • Bellvitge Biomedical Research Institute (IDIBELL)
  • CIBER - Center for Biomedical Research Network
  • Bellvitge Biomedical Research Institute
  • Instituto de Salud Carlos III
  • Centro de Investigación Biomédica en Red

External person

Rebecca Willaert

  • GeneDX Inc
  • Baylor Genetics, LLC
  • OPKO Health, Inc.

External person

Idara U. Ekpoh

  • Mayo Clinic Scottsdale, AZ

External person

Jing Miao

  • Mayo Clinic Rochester, MN
  • Division of Nephrology and Hypertension

External person

Joaquim Sa

  • University of Coimbra

External person

Bregje W M Van Bon

  • Radboud University Nijmegen Medical Center
  • Radboud University Nijmegen
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Department of Neurology and Translational Metabolic Laboratory
  • Radboudumc

External person

Ashley Andrews

  • University of Utah

External person

Andrea Superti-Furga

  • Department of Pediatrics
  • University of Lausanne
  • Department of Pediatrics

External person

Cileide C. Moulin

  • Universidade Federal do Rio Grande do Sul

External person

Christopher M. Grochowski

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

External person

Álvaro Reischak-Oliveira

  • Universidade Federal do Rio Grande do Sul

External person

Els Van Hul

  • University of Antwerp

External person

Abigail Williams

  • East Tennessee Children's Hospital

External person

Miriam Schachter

  • New Jersey Department of Health

External person

Tracey Oh

  • University of British Columbia

External person

G. S. Macedo

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

External person

Diana Rodriguez

  • APHP
  • GRC ConCer-LD
  • Universite Pierre et Marie Curie
  • Sorbonne Université
  • Assistance publique – Hôpitaux de Paris
  • Hôpital Armand Trousseau

External person

Bradley S. Bowles

  • Mayo Clinic Rochester, MN
  • Center for Clinical and Translational Science
  • Graduate School of Biomedical Science
  • Mayo Clinic College of Medicine and Science

External person

Hudson Freeze

  • Sanford Burnham Prebys Medical Discovery Institute
  • Mayo Clinic Rochester, MN

External person

Jacques Giltay

  • Utrecht University

External person

Casella B. Erasmo

  • Universidade de São Paulo

External person

Maximilian Radtke

  • Leipzig University

External person

Denis Morin

  • CHU Montpellier

External person

Ivana Dabaj

  • Hôpital Raymond Poincaré
  • CHU Hôpitaux de Rouen

External person

Livia d'Avila Paskulin

  • Universidade Federal do Rio Grande do Sul

External person

H. Michelakakis

  • Department of Enzymology and Cellular Function
  • Institute of Child Health
  • Department of Enzymology and Cellular Function
  • Institute of Child Health
  • Institute of Child Health

External person

Julie McLaughlin

  • Northwell Health System

External person

Sarina Kant

  • Leiden University
  • Department of Clinical Genetics, Leiden University Medical Center Leiden
  • Erasmus University Rotterdam

External person

Cristina Pereira

  • National Health Institute Doutor Ricardo Jorge Porto

External person

Fernanda Hendges de Bitencourt

  • Universidade Federal do Rio Grande do Sul

External person

V. K. Ramanan

  • Indiana University-Purdue University Indianapolis
  • Indiana University Bloomington
  • Center for Neuroimaging
  • Medical Scientist Training Program
  • Medical and Molecular Genetics
  • Department of Radiology and Imaging Sciences
  • Department of Pathology and Laboratory Medicine
  • Department of Medical and Molecular Genetics
  • Department of Radiology and Imaging Sciences, Indiana University
  • Department of Medical and Molecular Genetics, Indiana University, Indiana University Viral Production Facility (IU VPF)
  • Gastroenterology/Hepatology Division, Indiana University, School of Medicine
  • Mayo Clinic Rochester, MN
  • Departments of Neurology
  • Department of Neurology
  • Department of Neurology
  • Mayo Clinic

External person

Ines Sousa

  • APAE Salvador

External person

Laura J. Wagstaff

  • University of Edinburgh

External person

T. Lotze

  • Baylor College of Medicine
  • Baylor College of Medicine, Texas Children’s Hospital
  • Texas Children's Hospital
  • Texas Children's Hospital
  • Blue Bird Circle Multiple Sclerosis Center
  • Division of Child Neurology
  • Department of Neurology
  • Department of Neurology, Baylor College of Medicine
  • Department of Pediatrics
  • The Blue Bird Circle Clinic for Multiple Sclerosis
  • Neurology and Developmental Neuroscience Department
  • BCM
  • University of Southern California
  • Texas Children's Hospital Houston
  • University of Texas Southwestern Medical Center
  • Rocky Mountain MS Center

External person

Alexandre Souza

  • Perkin Elmer

External person

Giovana Brondani Biancini

  • Universidade Federal do Rio Grande do Sul

External person

Jenny Carmichael

  • Oxford University Hospitals NHS Foundation Trust

External person

Conceicao Bettencourt

  • University College London
  • Complutense University
  • University of the Azores
  • University of Porto

External person

Caleb W. Hammel

  • Center for Individualized Medicine

External person

Camila Blos Ribeiro

  • Universidade Federal do Rio Grande do Sul

External person

Isabelle Desguerre

  • Centre for Rare Epilepsies
  • Université Paris 5
  • Institut Imagine
  • Institut national de la santé et de la recherche médicale
  • Université Paris Cité
  • Université Sorbonne Paris Cité

External person

Carlos Lopez-Otin

  • University of Oviedo
  • University of Oviedo
  • University of Coimbra
  • Department of Biochemistry and Molecular Biology
  • Departamento de Bioquý́mica y Biologý́a Molecular
  • Universidad de Oviedo
  • Hong Kong University of Science and Technology
  • Centro de Investigación Biomédica en Red de Cáncer
  • Instituto de Salud Carlos III
  • Ulm University
  • Kiel University
  • Centro de Investigación Biomédica en Red
  • University of Michigan, Ann Arbor

External person

Alessandra Terracciano

  • IRCCS Ospedale pediatrico Bambino Gesù - Roma

External person

Chiara Klöckner

  • Leipzig University

External person

Wesley Patterson

  • Greenwood Genetics Center

External person

Laura Vilarinho

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

External person

Mirian C.H. Janssen

  • Department of Internal Medicine
  • Radboud University Nijmegen
  • Institute for Genetic and Metabolic Disease
  • Department of Pediatrics

External person

Euan Ashley

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

External person

Maria Eugenia Yoldi

  • Pediatric Neurology Unit
  • Navarra Health Service
  • Navarra Health Service
  • Navarra Health Service

External person

Alice B.O. Netto

  • Universidade Federal do Rio Grande do Sul

External person

Monica V. de Souza

  • Universidade Federal do Rio Grande do Sul

External person

Kelly Schoch

  • Department of Pediatrics
  • Duke University
  • Duke Hospital
  • Duke
  • Duke Nashville

External person

Raquel Tavares Boy Da Silva

  • Universidade do Estado do Rio de Janeiro

External person

Maria Arelin

  • Leipzig University

External person

G. N. Manzoli

  • Universidade Federal da Bahia

External person

Daniela Burguêz

  • Universidade Federal do Rio Grande do Sul

External person

David Geneviève

  • European Reference Networks
  • Université de Montpellier
  • INSERM UMR 1183

External person

Erik G. Puffenberger

  • Franklin and Marshall College, Lancaster
  • University Hospitals of Cleveland
  • Clinic for Special Children
  • Case Western Reserve University
  • Department of Genetics and Center for Human Genetics
  • Clinic for Special Children

External person

Katalin Szakszon

  • European Reference Networks
  • University of Debrecen

External person

Carla Nishimura

  • University of Iowa
  • Departments of Otolaryngology- Head and Neck Surgery
  • Department of Otolaryngology

External person

Stefania Bigoni

  • University Hospital of Ferrara
  • University of Ferrara

External person

Olaya Santiago-Fernández

  • Universidad de Oviedo
  • University of Oviedo

External person

Zackary M. Herbst

  • University of Washington

External person

Rodrigo Ligabue-Braun

  • Universidade Federal do Rio Grande do Sul
  • Universidade Federal de Ciências da Saúde de Porto Alegre

External person

Giovanna G.Moreno Garzon

  • Mayo Clinic Scottsdale, AZ

External person

Bruno Lafaiete de Lima Costa

  • Universidade Federal do Rio Grande do Sul

External person

Petra Zwijnenburg

  • University of Coimbra
  • Vrije Universiteit Amsterdam

External person

Martin Kehrer

  • University of Tübingen

External person

Chelsea Roadhouse

  • McMaster University
  • Hamilton Health Sciences

External person

Rolph Pfundt

  • Radboud University Nijmegen
  • Department of Human Genetics
  • University of Ioannina
  • Department of Pediatrics
  • Donders Institute for Brain
  • Centre for Neuroscience
  • Department of Neurology
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre
  • Radboudumc
  • Amsterdam University Medical Center De Boelelaan 1117 1081HV Amsterdam

External person

Yuebo Zhang

  • Mayo Clinic Rochester, MN

External person

Artur S. Schuh

  • Universidade Federal do Rio Grande do Sul

External person

Carolinafischingermoura Desouza

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

External person

Taraka R. Donti

  • Department of Molecular and Human Genetics
  • Baylor College of Medicine
  • PerkinElmer, Inc.
  • PerkinElmer, Inc.
  • Revvity

External person

Eduardo Antunes da Fonseca

  • Hospital Sirio-Libanes

External person

Irene Miura

  • Hospital Sirio-Libanes

External person

Justin Alvey

  • University of Utah

External person

Robyn G. Holden

  • University of Kent

External person

Swarnendu Tripathi

  • Medical College of Wisconsin

External person

Maria Kasherman

  • School of Biomedical Sciences
  • University of Queensland
  • Griffith University Queensland

External person

Fernando Scaglia

  • Baylor College of Medicine
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Department of Molecular and Human Genetics
  • Chinese University of Hong Kong
  • Texas Children's Hospital Houston

External person

M. M. Bianchin

  • University of California
  • University of California at Irvine
  • Universidade Federal do Rio Grande do Sul

External person

Sherilyn W. Driscoll

  • Mayo Clinic College of Medicine
  • Department of Physical Medicine and Rehabilitation
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Department of Pediatric and Adolescent Medicine
  • Department of Physical Medicine and Rehabilitation, Mayo Clinic
  • Departments of Neurology and Physical Medicine & Rehabilitation
  • Department of Pediatric and Adolescent Medicine
  • Mayo Clinic College of Medicine
  • Mayo Clinic College of Medicine and Science

External person

Stefan Groeneweg

  • Erasmus University Rotterdam

External person

Lorne A. Clarke

  • University of British Columbia
  • University of British Columbia
  • Department of Medical Genetics
  • Department of Neurology
  • Child and Family Research Institute, Canada

External person

Alyssa K. Knudson

  • Mayo Clinic Rochester, MN

External person

Dora Lucia Vallejo Ardila

  • Universidade Federal do Rio Grande do Sul
  • Department of Genetics

External person

Aida N. Lteif

  • Mayo Clinic College of Medicine
  • Mayo Clinic Graduate School of Medicine
  • Mayo Clinic College of Medicine and Science
  • Mayo Clinic Rochester, MN
  • Division of Endocrinology and Metabolism
  • Division of Pediatric Endocrinology
  • Department of Pediatrics
  • Division of Pediatric Endocrinology
  • Division of Gastroenterological and General Surgery
  • Department of Pediatric and Adolescent Medicine
  • Pediatric Endocrinology and Metabolism
  • Department of Pediatric and Adolescent Medicine
  • Division of Pediatric Endocrinology and Metabolism
  • Department of Endocrinology
  • College of Medicine
  • Division of Endocrinology and Metabolism
  • Department of Internal Medicine, Mayo Clinic
  • Mayo Clinic College of Medicine and Science

External person

Mohammed M. Saleh

  • King Fahad Medical City
  • King Fahad Medical City, Riyadh

External person

Jingmin Wang

  • Department of Pediatrics
  • Peking University

External person

Damir Musaev

  • University of California at San Diego
  • Department of Neurosciences, University of California San Diego
  • Howard Hughes Medical Institute

External person

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