| Abnormal Platelet Vesicles |
Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles |
Yes |
| Adenosine Deaminase Deficiency |
Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) due to Adenosine Deaminase (ADA) Deficiency |
Yes |
| Albinism |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
| Albinism |
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome |
Yes |
| Alkaptonuria |
Study of Alkaptonuria |
Yes |
| Alzheimers |
REAVEAL III: Risk Evaluation and Education for Alzheimer's Disease |
No |
| Amino Acid Metabolism |
Clinical and Laboratory Study of Methylmalonic Acidemia |
Yes |
| Anophthalmos |
Molecular Analysis of Microphthalmia/Anophthalmia |
Yes |
| Attention Deficit Hyperactivity Disorder |
Attention Deficit Hyperactivity Disorder (ADHD) Study |
Yes |
| Attention Deficit Disorder with Hyperactivity |
Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD) |
Yes |
| Autism |
Predictors of Caregiver Adaptation to Pervasive Developmental Disorders |
No |
| Autoimmune Disease |
Study of Autoimmune Lymphoproliferative Syndrome (ALPS) |
Yes |
| Autosomal Recessive |
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis |
Yes |
| Bardet-Biedl Syndrome |
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome |
Yes |
| Blood Coagulation Disorders |
Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles |
Yes |
| Brain Disorders |
Genetic Analysis of Brain Disorders |
Yes |
| Breast Cancer |
Analysis of Data From the Women's Contraceptive and Reproductive Experiences (CARE) Study |
No |
| Cancer Genetics |
Exploratory Data Analysis for Disease Pedigrees and Cancer Genetics |
Yes |
| Cardiovascular Disease |
Risk Communication Within Mexican-American Families |
Yes |
| Cataracts |
Family Studies of Eye Traits
|
No |
| Chediak-Higashi Syndrome |
Study of Chediak-Higashi Syndrome |
Yes |
| ClinSeq |
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study |
Yes |
| Chromosome Abnormalities |
Natural History Study of Smith-Magenis Syndrome |
Yes |
| Colonic Neoplasm |
Outcomes in Education and Counseling for HNPCC Testing |
Yes |
| Colon Cancer |
Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
No |
| Colon Cancer |
Risk Communication Within Mexican-American Families |
Yes |
| Colon Cancer |
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
Yes |
| Congenital Bleeding Disorders |
Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles |
Yes |
| Coronary Artery Calcification |
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study |
Yes |
| Craniofacial Differences |
Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences |
No |
| Craniofrontonasal Syndrome |
Genetic Analysis of Craniofrontonasal Syndrome |
No |
| Craniosynostosis |
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) |
Yes |
| Cystic Fibrosis |
Disclosing a Cystic Fibrosis Diagnosis to a Dating Partner |
No |
| Cystinosis |
Use of Cysteamine in the Treatment of Cystinosis |
Yes |
| Diabetes Mellitus |
Mapping Genes for Non-Insulin Dependent Diabetes Mellitus |
Yes |
| Diabetes |
Risk Communication Within Mexican-American Families |
Yes |
| Down Syndrome |
The Experience of Caregivers of Children With Down Syndrome |
No |
| Epilepsy |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
| Family History |
Patients' Perspectives on Identity, Ancestry and Genetics |
Yes |
| Gaucher Disease |
Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations |
Yes |
| Genomic Concepts |
Using Virtual Reality to Test Communication Strategies for Genomic Concepts |
No |
| Genetic Analysis |
Genetic Analysis Workshop 16 Framingham Heart Study |
Yes |
| Genetic Disease |
Genetic Studies in the Amish and Mennonites |
Yes |
| Genetic Disease |
Physicians' Understanding of Human Genetic Variation |
No |
| Genetic Linkage |
Genetic Analysis of Gray Platelet Syndrome |
Yes |
| Genetic Variation |
Physicians' Understanding of Human Genetic Variation |
Yes |
| Glucocerebrosidase Mutations |
Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations |
Yes |
| Gray Platelet Syndrome |
Genetic Analysis of Gray Platelet Syndrome |
Yes |
| Growth Disorder |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
| Hamartoma |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
| Healthy Individuals |
Patient Provider Communication and Interaction in a Virtual Clinical Setting |
Yes |
| Healthy Individuals |
Genetic Analysis of Immune Disorders |
Yes |
| Healthy Individuals |
Interventions to Educate An Underserved Population About Inherited Disease Risks |
No |
| Healthy Individuals |
PET Scanning in Parkinson's Disease |
Yes |
| Healthy Individuals |
Study of Autoimmune Lymphoproliferative Syndrome (ALPS) |
Yes |
| Healthy Individuals |
Use of Virtual Reality to Communicate Concepts of Genomics to the General Public |
No |
| Hemochromatosis |
Hemochromatosis and Iron Overload Screening Study (HEIRS) |
No |
| Hereditary Neoplastic Syndrome |
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
Yes |
| Hereditary Nonpolyposis Colon Cancer |
Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
No |
| Hermansky-Pudlak Syndrome |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
| Hermansky-Pudlak Syndrome |
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome |
Yes |
| Hermansky-Pudlak Syndrome |
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome | Yes |
| Hermansky-Pudlak Syndrome |
Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles |
Yes |
| Holoprosencephaly |
Clinical and Genetic Studies on Holoprosencephaly |
Yes |
| Huntington's Disease |
Individuals' Patterns of Disclosure About Huntington's Disease (HD) and the Association With Adaptation to HD |
No |
| Hutchison-Gilford Progeria Syndrome |
Clinical Studies of Progeria |
No |
| Immunologic Deficiency Syndrome |
Genetic Analysis of Immune Disorders |
Yes |
| Immunologic Deficiency Syndrome |
Molecular and Clinical Studies of Primary Immunodeficiency Diseases |
Yes |
| Inborn Errors of Metabolism |
Clinical and Laboratory Study of Methylmalonic Acidemia |
Yes |
| Inborn Errors of Metabolism |
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism |
Yes |
| Inborn Errors of Metabolism |
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome |
Yes |
| Intestinal Disease |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
| Job's Syndrome |
Genetic Analysis of Immune Disorders |
Yes |
| Kidney Disease |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
| Kidney Disease, Polycystic |
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis |
Yes |
| Leishmaniasis |
Immunogenetics of Visceral Leishmaniasis |
Yes |
| Lung Cancer |
Genetic Epidemiology of Lung Cancer |
Yes |
| Lung Cancer |
Impact of Lung Cancer Diagnosis on Relatives' Understanding of Genetic Risk and Receptivity to Quit Smoking |
No |
| Lysosomal Storage Disorders |
Genetic Studies of Lysosomal Storage Disorders |
Yes |
| Medical Sequencing |
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study |
Yes |
| Melanoma |
Genetic Analysis of Familial Melanoma |
No |
| Mental Retardation |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
| Methylmalonic Acidemia |
Clinical and Laboratory Study of Methylmalonic Acidemia |
Yes |
| Muenke Syndrome |
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) |
Yes |
| Multiple Abnormalies |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
| Multiple Abnormalies |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
| Myelofibrosis |
Genetic Analysis of Gray Platelet Syndrome |
Yes |
| Myocardial Disease |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
| Myopia |
Family Myopia Study |
No |
| Nervous System Heredodegenerative Disorder |
Clinical and Genetic Studies of Familial Presenile Dementia with Neuronal Inclusion Bodies |
No |
| Neural Tube Defects |
Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population |
Yes |
| Neurofibromatosis |
Study of Disease Severity in Adults with Neurofibromatosis Type 1 (NF1) |
Yes |
| Neurofibromatosis |
Natural History and Biology of Skin Neurofibromas in Neurofibromatosis Type 1 |
Yes |
| Neurofibromatosis |
The Study of Neurofibroma Growth in Adults with Neurofibromatosis Type 1 (NF1) |
Yes |
| Oculocutaneous Albinism |
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome |
Yes |
| Oral Clefts |
Genetic Analysis of Hereditary Non-Syndromic Oral Clefts |
Yes |
| Orofacial Cleft Defects |
Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population |
Yes |
| Osler-Rendu-Weber Disease |
Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia
|
Yes |
| Pallister-Hall Syndrome |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
| Parkinson's Disease |
PET Scanning in Parkinson's Disease |
Yes |
| Platelet Storage Pool Deficiency |
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome |
Yes |
| Polycystic Kidney |
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis |
Yes |
| Pregnancy |
Informed Choice Regarding Invasive Prenatal Testing |
Yes |
| Premature Aging |
Clinical Studies of Progeria
|
No |
| Progeria Syndrome |
Clinical Studies of Progeria |
No |
| Prostate Cancer |
Identification of Prostate Cancer Genes |
No |
| Prostatic Neoplasm |
Genetic Analysis of Hereditary Prostate Cancer |
Yes |
| Proteus Syndrome |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
| Pulmonary Fibrosis |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
| Pulmonary Fibrosis |
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome |
Yes |
| Pulmonary Fibrosis |
Specimen Procurement From People With Pulmonary Fibrosis |
Yes |
| Rectal Cancer |
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
Yes |
| Severe Combined Immunodeficiency |
Genetic Analysis of Immune Disorders |
Yes |
| Severe Combined Immunodeficiency |
Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) due to Adenosine Deaminase (ADA) Deficiency |
Yes |
| Smith Magenis Syndrome |
Natural History Study of Smith-Magenis Syndrome |
Yes |
| Smith Magenis Syndrome |
Treatment Strategies for Children With Smith-Magenis Syndrome |
Yes |
| Syndactyly |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
| Wiskott-Aldrich Syndrome |
Molecular and Clinical Studies of Primary Immunodeficiency Diseases |
Yes |
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