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Research projects
FRANCE
AUVERGNE-RHONE-ALPES
BRON
ANI: Molecular characterization of apparently balanced chromosomal rearrangements by next-generation sequencing in 55 patients with intellectual disability and/or multiple congenital anomalies
CHU de Lyon HCL - GH Est
Laboratoire de cytogénétique constitutionnelle
FRANCE
ILE-DE-FRANCE
VILLEJUIF
Transition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe 3 Cancer
GERMANY
Berlin
BERLIN
Search and functional characterisation of genes in X-linked and autosomal recessive forms of mental retardation
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics
SPAIN
País Vasco
BARAKALDO
Contribution of mutations in X linked genes versus mutations in autosomes in pairs of brothers with intellectual disabilities without etiology, and no other family history. Study by Next Generation Sequencing
Hospital Universitario Cruces - Osakidetza
Grupo de Investigación en Etiología, Prevención y Tratamiento de Enfermedades Genéticas
SWITZERLAND
Suisse Alémanique
SCHLIEREN
Identification of novel autosomal genes causing mental retardation
Universität Zürich
Institut für Medizinische Genetik
FRANCE
PAYS DE LA LOIRE
NANTES
In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire
GERMANY
Rheinland-Pfalz
MAINZ
Risk factors for congenital anorectal malformations
Universitätsmedizin Mainz
CURE-Net Register
SPAIN
Comunidad Valenciana
VALENCIA
Genomic approach for the identification of new genes and functional modules responsible for severe intellectual disability
Hospital Universitario y Politécnico La Fe
Unidad de Genética
FRANCE
PAYS DE LA LOIRE
ANGERS
Omics for Improving the Diagnosis of Rare Intellectual Disabilities
CHU d'Angers
Service de génétique
SPAIN
Madrid
MADRID
Whole exome sequencing for the study of 30 children with developmental delay or moderate to severe
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional
SWITZERLAND
Suisse Alémanique
BASEL
Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
UNITED KINGDOM
Devon
EXETER
Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology
ITALY
CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica
UNITED KINGDOM
Lothian
EDINBURGH
Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit
Multicentric Research projects
- Haukeland University Hospital
- Universitätsklinikum Bonn
- Institut für Humangenetik
- Humangenetisches Institut am Universitätsklinikum Erlangen
- Humangenetisches Institut
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Centro de Regulación Genómica
- Programa Genes y Enfermedad
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
NORWAY
Vestlandet
BERGEN
NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases
GERMANY
Nordrhein-Westfalen
BONN
CURE-Net: Network for congenital uro-rectal malformations
GERMANY
Bayern
ERLANGEN
MRNET: German Mental Retardation Network -terminated
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALY
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
SPAIN
Cataluña
BARCELONA
RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
GERMANY
Bayern
MÜNCHEN
BNE: BrainNet Europe II: European brain tissue bank
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT