| Molecular Diagnosis of Systemic Autoinflammatory Diseases (NCT05364294) | Institut National de la Santé Et de la Recherche Médicale, France | 2022-05-18 |
| Grand Valley State University (GVSU) Skills on Wheels (NCT05339932) | Grand Valley State University | 2022-05-05 |
| Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease (NCT05297812) | Columbia University | 2022-03-23 |
| A Comprehensive Approach To Relief Of Digestive Symptoms In Cystic Fibrosis: CARDS-CF (NCT05251467) | Nottingham University Hospitals NHS Trust | 2022-02-28 |
| The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment (NCT05277116) | Vanderbilt University Medical Center | 2022-02-16 |
| Fetal Cell Analysis From Maternal Blood (NCT05671744) | Menarini Biomarkers Singapore | 2021-11-22 |
| iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders (NCT05049967) | Illumina, Inc. | 2021-11-09 |
| UW Undiagnosed Genetic Diseases Program (NCT04586075) | University of Wisconsin, Madison | 2021-07-16 |
| Genetic Study of Obstructive Azoospermia (NCT05631509) | Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University | 2021-07-01 |
| The Prospective Observational COMPRAYA Cohort Study (NCT04682470) | The Netherlands Cancer Institute | 2021-06-18 |
| Genetic Etiology in Patients With Cerebral Palsy (NCT05123768) | University Medical Centre Ljubljana | 2021-04-01 |
| Metabolic FingerPrinting (NCT05305729) | Arcensus GmbH | 2021-03-01 |
| CGH-array in Prenatal Diagnosis of Isolated Severe and Early Intra-uterine Growth Restriction (NCT04729361) | Central Hospital, Nancy, France | 2021-01-31 |
| Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease (NCT04584528) | Duke University | 2020-10-27 |
| Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T) (NCT04556500) | Hacettepe University | 2020-10-01 |
| Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood (NCT04285814) | Columbia University | 2020-09-01 |
| Genetic Disorders of Obesity Program Database (NCT05747976) | Baylor College of Medicine | 2020-08-30 |
| Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics (NCT04420858) | Women and Infants Hospital of Rhode Island | 2020-07-21 |
| Genome Sequencing in the Intensive Care Unit Population (NCT04848090) | Jerry Vockley, MD, PhD | 2020-07-13 |
| Follow-up With Preimplantation Genetic Testing Patients (NCT04477863) | Genomic Prediction Inc. | 2020-07-11 |
| The Use of Digital Genetic Assistant (DGA) for Expanded Carrier Screening (NCT04014114) | Igentify Ltd | 2020-04-01 |
| Digital Genetic Assistant (DGA) for Expanded Carrier Screening (NCT04248504) | Igentify Ltd | 2020-02-01 |
| Structural Chromosome Rearrangements and Brain Disorders (NCT06072079) | Karolinska Institutet | 2019-12-20 |
| Sanger Human Cell Atlasing Project (NCT06497673) | The Wellcome Sanger Institute | 2019-12-16 |
| Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy (NCT03998540) | University Hospital, Montpellier | 2019-12-05 |
| Implementation of Molecular Diagnostic Pathways (NCT03084224) | Neuromed IRCCS | 2019-12-01 |
| A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 (NCT03847909) | Novo Nordisk A/S | 2019-10-28 |
| Young Pectus Excavatum Patients and Genetic Defects (NCT05443113) | Erasmus Medical Center | 2019-09-01 |
| Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders (NCT03967743) | Boston Children's Hospital | 2019-08-26 |
| A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis (NCT04069260) | Eloxx Pharmaceuticals, Inc. | 2019-08-02 |
| Long Term Extension Study in Patients With Primary Hyperoxaluria (NCT04042402) | Dicerna Pharmaceuticals, Inc., a Novo Nordisk company | 2019-07-09 |
| Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study (NCT03918707) | University of Illinois College of Medicine at Peoria | 2019-06-01 |
| Noninvasive Electrocardiographic Imaging for Individuals at Risk for Apparently Idiopathic Ventricular Fibrillation. (NCT03963271) | Maastricht University Medical Center | 2019-04-10 |
| A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases (NCT03861741) | University of Leicester | 2019-03-01 |
| Reinterpretation of CNV With Unknown Significance: a 5-year Retrospective Analysis (NCT04575350) | Central Hospital, Nancy, France | 2019-01-01 |
| Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells (NCT03612310) | Sapna Vyas | 2018-11-01 |
| Implementing Digital Health in a Learning Health System (NCT03713333) | Scripps Health | 2018-10-20 |
| North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 (NCT03548779) | University of North Carolina, Chapel Hill | 2018-09-28 |
| Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy (NCT03043209) | The Cleveland Clinic | 2018-08-30 |
| Drug-induced Repolarization ECG Changes (NCT03642405) | Copenhagen University Hospital at Herlev | 2018-08-15 |
| Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria (NCT03301038) | Children's Hospital of Philadelphia | 2018-07-25 |
| Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) (NCT03624374) | Hugo W. Moser Research Institute at Kennedy Krieger, Inc. | 2018-04-01 |
| Diagnostic Odyssey: Whole Genome Sequencing (WGS) (NCT03458962) | Nicklaus Children's Hospital f/k/a Miami Children's Hospital | 2018-02-20 |
| Ensuring Patients' Informed Access to Noninvasive Prenatal Testing (NCT03420274) | The Cleveland Clinic | 2018-02-19 |
| Genetic Screening and Assisted Oocyte Activation in Couples with Diminished/aberrant Embryonic Development. (NCT03354013) | University Hospital, Ghent | 2018-01-15 |
| Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART (NCT06898307) | University Hospital of Ferrara | 2017-11-01 |
| Phase 1 Study of ELX-02 in Healthy Adult Subjects (NCT03309605) | Eloxx Pharmaceuticals, Inc. | 2017-10-11 |
| Phase 1 Study of ELX-02 in Healthy Adults (NCT03292302) | Eloxx Pharmaceuticals, Inc. | 2017-09-26 |
| Central and Peripheral Nervous System Changes as Markers of Disease Progression in Multiple Sclerosis (NCT03401307) | University of Southern Denmark | 2017-08-01 |
| Cohort Description of Younger With AV-block (NCT03024047) | University of Aarhus | 2017-01-01 |
| Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience (NCT05936749) | Istituto Clinico Humanitas | 2016-01-02 |
| Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units (NCT02551081) | Children's Hospital of Fudan University | 2015-10-01 |
| Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network (NCT02450851) | National Human Genome Research Institute (NHGRI) | 2015-09-16 |
| CUHK Stroke Biobank (NCT03291392) | Chinese University of Hong Kong | 2015-06-15 |
| Genomic Sequencing in Acutely Ill Neonates (NCT02225522) | Children's Mercy Hospital Kansas City | 2014-10-01 |
| Biobank Clinical Genetics Maastricht (KG01) (NCT02266615) | Maastricht University Medical Center | 2014-09-01 |
| EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment (NCT01793090) | Bambino Gesù Hospital and Research Institute | 2013-01-01 |
| The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD) (NCT01386515) | National Human Genome Research Institute (NHGRI) | 2011-06-07 |
| Saffron Supplementation in Stargardt's Disease (NCT01278277) | Catholic University of the Sacred Heart | 2011-02-01 |
| Personalized Genomic Research (NCT01294345) | National Human Genome Research Institute (NHGRI) | 2011-01-24 |
| Genetic and Phenotypic Characteristics of Mitral Valve Prolapse (NCT03884426) | Nantes University Hospital | 2010-12-01 |
| Genetic Studies in the Amish and Mennonites (NCT00359580) | National Human Genome Research Institute (NHGRI) | 2004-02-10 |