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Research projects
GERMANY
Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
GERMANY
Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
GERMANY
Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
GERMANY
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
GERMANY
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
GERMANY
Hamburg
HAMBURG
Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
GERMANY
Sachsen-Anhalt
MAGDEBURG
Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik
GERMANY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
SPAIN
Madrid
MADRID
Evaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
SPAIN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentric Research projects
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- A.R. Genetica e Malattie Rare
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- A.R. Genetica e Malattie Rare
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
ITALY
LAZIO
ROMA
NsEuroNet: European network on Noonan syndrome and related disorders
ITALY
LAZIO
ROMA
NSEuroNet-2 : European network on noonan syndrome and related disorders
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ITALY
LAZIO
ROMA