Search for a research project

Search for a research project

Other search option(s)

64 Result(s)

Research projects

iPS cells to model vascular disease in patients with Williams Beuren syndrome Hospital for Sick Children, Research Institute

Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution IRCCS Istituto Europeo di Oncologia Stem cell epigenetics Unit

Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution IRCCS Istituto Clinico Humanitas Istituto Clinico Humanitas

Project 1: gene networks for social cognition in williams syndrome Institution: Information not provided - US

Project 2: modeling williams syndrome using human neurons Institution: Information not provided - US

Project 3: cellular architectonics and local circuits Institution: Information not provided - US

Project 4: neuroimaging of social circuitry Institution: Information not provided - US

Project 5: characterization of social phenotype Institution: Information not provided - US

Obstructive sleep apnea in syndromic craniosynostosis Erasmus MC - Erasmus Medisch Centrum Afdeling Plastische, Reconstructieve en Handchirurgie

Brain anomalies in syndromic craniosynostosis Erasmus MC - Erasmus Medisch Centrum Afdeling Plastische, Reconstructieve en Handchirurgie

Genetic causes of craniofacial anomalies Erasmus MC - Erasmus Medisch Centrum Afdeling Plastische, Reconstructieve en Handchirurgie

Disturbed breathing in craniofacial disorders Erasmus MC - Erasmus Medisch Centrum Afdeling Plastische, Reconstructieve en Handchirurgie

Cerebral blood flow in relation to intracranial pressure in craniosynostosis Erasmus MC - Erasmus Medisch Centrum Afdeling Plastische, Reconstructieve en Handchirurgie

Natural history and management in Craniosynostoses syndromes Great Ormond Street Hospital Clinical Genetics

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes CIUSSS de l'Estrie - CHUS Fleurimont Service de génétique médicale

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity Institut National de la Santé et de la Recherche Médicale

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE) Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Genetics of craniosynostosis Oslo University Hospital, Rikshospitalet Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research Newcastle University Institute of Genetic Medicine

Role of bcl11b in development of the craniofacial skeleton Institution: Information not provided - US

Regenerating cranial suture Institution: Information not provided - US

Quantitative characterization and predictive modeling of cranial bone development in patients with craniosynostosis Institution: Information not provided - US

Molecular mechanisms of tissue interactions during coronal suture development Institution: Information not provided - US

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations University of Victoria Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer Hospital for Sick Children, Research Institute

Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders University of Oulu Biocenter Oulu

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders Faculté de Médecine Lyon Est Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

Establishment of a scalable semantic data architecture for study of chronic disease Trinity College Dublin ADAPT Centre

Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources Trinity College Dublin School of Computer Science and Statistcs - O'Reilly Institute

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling Fundación Progreso y Salud Área de bioinformática clínica

Development of a repository of genomic analysis workflows Fundación Progreso y Salud Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Centro de Regulación Genómica Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Clínic de Barcelona Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari Vall d'Hebron Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital de la Santa Creu i Sant Pau Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Sant Joan de Déu Barcelona Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari de Bellvitge Unidad de Genética Molecular

Clinical studies, genetic basis and prognosis biomarkers in rare neurodegenerative diseases Centro de Investigación Príncipe Felipe (CIPF) Unidad de investigación en enfermedades raras neurodegenerativas

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD) Hospital Universitario La Paz

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine Instituto de Investigación Hospital 12 de Octubre Grupo de Enfermedades raras, mitocondriales y neuromusculares

Detection and simulation of femoroacetabular impingement University of Ottawa School of Electrical Engineering and Computer Science (EECS)

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform Centro de Regulación Genómica Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform ISGlobal - Instituto de Salud Global de Barcelona Programa de investigación en Enfermedades no transmisibles y medio ambiente

Detection of chromosomal abnormalities and mutations by high throughput sequencing CHU de Dijon - Plateau technique de Biologie Laboratoire de génétique chromosomique et moléculaire

Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocations Institut für Humangenetik am Universitätsklinikum Freiburg Institut für Humangenetik

ChromoSomics - Database: Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation Institut für Humangenetik am Universitätsklinikum Jena Institut für Humangenetik

Improving quality standards in Italian laboratories performing genetic testing for rare diseases ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Chromosomal anomaly Karolinska Universitetssjukhuset Department of Clinical Genetics

Multicentric Research projects

DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances IRCCS Istituto Europeo di Oncologia Stem cell epigenetics Unit

EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases Max-Planck-Institut für Multidisziplinäre Naturwissenschaften Abteilung Molekulare Neurobiologie

CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations Institut für Humangenetik der Universität Göttingen Institut für Humangenetik

International Clearinghouse for Birth Defects Monitoring Systems Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

EUNEFRON: the European network for the study of orphan nephropathies Cliniques universitaires Saint-Luc - UCLouvain Laboratory of Nephrology

EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED) Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie

HELICAL - Health Data Linkage for Clinical Benefit Trinity College Dublin ADAPT Centre

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics A.O.U. Policlinico "G. Martino" U.O.C. di Neuropsichiatria Infantile

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated) Radboudumc - Radboud universitair medisch centrum Afdeling Genetica

EUROCRAN: European collaboration on craniofacial anomalies - Eurocleft clinical network (TERMINATED) Faculty of Medical and Human Sciences - University of Manchester Department of Dental Medicine and Surgery

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases Azienda Ospedaliera di Padova Clinica Pediatrica

iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute

Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution
IRCCS Istituto Europeo di Oncologia

Stem cell epigenetics Unit

Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution
IRCCS Istituto Clinico Humanitas

Istituto Clinico Humanitas

Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

Project 3: cellular architectonics and local circuits
Institution: Information not provided - US

Project 4: neuroimaging of social circuitry
Institution: Information not provided - US

Project 5: characterization of social phenotype
Institution: Information not provided - US

Obstructive sleep apnea in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum

Afdeling Plastische, Reconstructieve en Handchirurgie

Brain anomalies in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum

Afdeling Plastische, Reconstructieve en Handchirurgie

Genetic causes of craniofacial anomalies
Erasmus MC - Erasmus Medisch Centrum

Afdeling Plastische, Reconstructieve en Handchirurgie

Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum

Afdeling Plastische, Reconstructieve en Handchirurgie

Cerebral blood flow in relation to intracranial pressure in craniosynostosis
Erasmus MC - Erasmus Medisch Centrum

Afdeling Plastische, Reconstructieve en Handchirurgie

Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital

Clinical Genetics

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont

Service de génétique médicale

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Genetics of craniosynostosis
Oslo University Hospital, Rikshospitalet

Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University

Institute of Genetic Medicine

Role of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US

Regenerating cranial suture
Institution: Information not provided - US

Quantitative characterization and predictive modeling of cranial bone development in patients with craniosynostosis
Institution: Information not provided - US

Molecular mechanisms of tissue interactions during coronal suture development
Institution: Information not provided - US

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria

Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu

Biocenter Oulu

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est

Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

Establishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin

ADAPT Centre

Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin

School of Computer Science and Statistcs - O'Reilly Institute

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud

Área de bioinformática clínica

Development of a repository of genomic analysis workflows
Fundación Progreso y Salud

Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica

Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona

Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron

Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau

Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona

Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge

Unidad de Genética Molecular

Clinical studies, genetic basis and prognosis biomarkers in rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)

Unidad de investigación en enfermedades raras neurodegenerativas

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD)
Hospital Universitario La Paz

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre

Grupo de Enfermedades raras, mitocondriales y neuromusculares

Detection and simulation of femoroacetabular impingement
University of Ottawa

School of Electrical Engineering and Computer Science (EECS)

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica

Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie

Laboratoire de génétique chromosomique et moléculaire

Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocations
Institut für Humangenetik am Universitätsklinikum Freiburg

Institut für Humangenetik

ChromoSomics - Database: Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
Institut für Humangenetik am Universitätsklinikum Jena

Institut für Humangenetik

Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Chromosomal anomaly
Karolinska Universitetssjukhuset

Department of Clinical Genetics

DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances

IRCCS Istituto Europeo di Oncologia

Stem cell epigenetics Unit

EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases

Max-Planck-Institut für Multidisziplinäre Naturwissenschaften

Abteilung Molekulare Neurobiologie

CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations

Institut für Humangenetik der Universität Göttingen

Institut für Humangenetik

International Clearinghouse for Birth Defects Monitoring Systems

Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

EUNEFRON: the European network for the study of orphan nephropathies

Cliniques universitaires Saint-Luc - UCLouvain

Laboratory of Nephrology

EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)

Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg

Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie

HELICAL - Health Data Linkage for Clinical Benefit

Trinity College Dublin

ADAPT Centre

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

A.O.U. Policlinico "G. Martino"

U.O.C. di Neuropsichiatria Infantile

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Radboudumc - Radboud universitair medisch centrum

Afdeling Genetica

EUROCRAN: European collaboration on craniofacial anomalies - Eurocleft clinical network (TERMINATED)

Faculty of Medical and Human Sciences - University of Manchester

Department of Dental Medicine and Surgery

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

Azienda Ospedaliera di Padova

Clinica Pediatrica