• Abetalipoproteinemia   2 studies
• Abnormalities, Multiple   84 studies
• Abnormalities, Radiation-Induced   3 studies
• Achondroplasia   1 study
• Adenomatous Polyposis Coli   16 studies
• Adrenal Hyperplasia, Congenital   15 studies
• Adrenoleukodystrophy   15 studies
• Afibrinogenemia   1 study
• Alagille Syndrome   3 studies
• Albinism   6 studies
• Albinism, Ocular   1 study
• Albinism, Oculocutaneous   5 studies
• Alkaptonuria   2 studies
• Alpha-Mannosidosis   5 studies
• Alpha-Thalassemia   2 studies
• Amino Acid Metabolism, Inborn Errors   45 studies
• Amyloid Neuropathies, Familial   2 studies
• Amyloidosis, Familial   2 studies
• Andersen Syndrome   1 study
• Anemia, Diamond-Blackfan   18 studies
• Anemia, Hemolytic, Congenital   193 studies
• Anemia, Hemolytic, Congenital Nonspherocytic   1 study
• Anemia, Neonatal   7 studies
• Anemia, Sickle Cell   148 studies
• Anencephaly   4 studies
• Angelman Syndrome   3 studies
• Angioedema, Hereditary   19 studies
• Aniridia   5 studies
• Anodontia   2 studies
• Anophthalmos   2 studies
• Antithrombin III Deficiency   3 studies
• Aortic Coarctation   6 studies
• Arachnodactyly   8 studies
• Arnold-Chiari Malformation   13 studies
• Arrhythmogenic Right Ventricular Dysplasia   3 studies
• Arteriovenous Fistula   12 studies
• Arteriovenous Malformations   20 studies
• Arthritis, Gouty   4 studies
• Asphyxia Neonatorum   11 studies
• Ataxia Telangiectasia   32 studies
• Bardet-Biedl Syndrome   3 studies
• Basal Cell Nevus Syndrome   7 studies
• Beta-Thalassemia   34 studies
• Biliary Atresia   7 studies
• Birth Injuries   3 studies
• Bloom Syndrome   1 study
• Brain Diseases, Metabolic, Inborn   171 studies
• Bronchopulmonary Dysplasia   41 studies
• Brugada Syndrome   4 studies
• Canavan Disease   3 studies
• Carbamoyl-Phosphate Synthase I Deficiency Disease   1 study
• Cardiomyopathy, Hypertrophic, Familial   3 studies
• Cardiovascular Abnormalities   199 studies
• Caroli Disease   1 study
• Charcot-Marie-Tooth Disease   36 studies
• Cholesterol Ester Storage Disease   3 studies
• Chorioamnionitis   11 studies
• Choroideremia   1 study
• Chromosome Disorders   86 studies
• Citrullinemia   1 study
• Cleft Lip   12 studies
• Cleft Palate   16 studies
• Cockayne Syndrome   1 study
• Coloboma   2 studies
• Colorectal Neoplasms, Hereditary Nonpolyposis   17 studies
• Congenital Abnormalities   1110 studies
• Congenital Hypothyroidism   4 studies
• Corneal Dystrophies, Hereditary   9 studies
• Craniofacial Abnormalities   30 studies
• Craniosynostoses   5 studies
• Crigler-Najjar Syndrome   1 study
• Cryptorchidism   4 studies
• Cutis Laxa   2 studies
• Cystic Fibrosis   233 studies
• Cystinosis   9 studies
• Cystinuria   2 studies
• Dermatitis, Atopic   122 studies
• Dextrocardia   9 studies
• DiGeorge Syndrome   13 studies
• Digestive System Abnormalities   61 studies
• Dihydropyrimidine Dehydrogenase Deficiency   5 studies
• Double Outlet Right Ventricle   1 study
• Down Syndrome   24 studies
• Ductus Arteriosus, Patent   19 studies
• Dwarfism   24 studies
• Dyskeratosis Congenita   4 studies
• Dysplastic Nevus Syndrome   3 studies
• Ebstein Anomaly   1 study
• Ectodermal Dysplasia   6 studies
• Ehlers-Danlos Syndrome   4 studies
• Eisenmenger Complex   6 studies
• Elliptocytosis, Hereditary   1 study
• Endocardial Cushion Defects   4 studies
• Epidermolysis Bullosa   11 studies
• Epidermolysis Bullosa Acquisita   1 study
• Epidermolysis Bullosa Dystrophica   3 studies
• Epidermolysis Bullosa, Junctional   1 study
• Erythroblastosis, Fetal   4 studies
• Esophageal Atresia   1 study
• Exostoses, Multiple Hereditary   3 studies
• Eye Abnormalities   9 studies
• Eye Diseases, Hereditary   66 studies
• Fabry Disease   43 studies
• Factor XIII Deficiency   2 studies
• Familial Mediterranean Fever   7 studies
• Fanconi Anemia   31 studies
• Fanconi Syndrome   7 studies
• Favism   1 study
• Fetal Alcohol Syndrome   9 studies
• Fetal Diseases   50 studies
• Fetal Growth Retardation   27 studies
• Fetal Hypoxia   1 study
• Fetal Macrosomia   2 studies
• Fetofetal Transfusion   1 study
• Fetomaternal Transfusion   1 study
• Focal Dermal Hypoplasia   1 study
• Foramen Ovale, Patent   13 studies
• Fragile X Syndrome   7 studies
• Friedreich Ataxia   9 studies
• Fuchs' Endothelial Dystrophy   5 studies
• Fucosidosis   4 studies
• Funnel Chest   3 studies
• Galactosemias   2 studies
• Gangliosidoses   8 studies
• Gangliosidoses, GM2   6 studies
• Gangliosidosis, GM1   3 studies
• Gastroschisis   3 studies
• Gaucher Disease   32 studies
• Genetic Diseases, Inborn   1671 studies
• Genetic Diseases, X-Linked   162 studies
• Glucosephosphate Dehydrogenase Deficiency   2 studies
• Glycogen Storage Disease   30 studies
• Glycogen Storage Disease Type I   8 studies
• Glycogen Storage Disease Type II   28 studies
• Glycogen Storage Disease Type VII   1 study
• Gonadal Dysgenesis   27 studies
• Gout   22 studies
• Granulomatous Disease, Chronic   22 studies
• Gyrate Atrophy   2 studies
• Hamartoma Syndrome, Multiple   4 studies
• Heart Defects, Congenital   168 studies
• Heart Septal Defects   34 studies
• Heart Septal Defects, Atrial   21 studies
• Heart Septal Defects, Ventricular   15 studies
• Hemochromatosis   21 studies
• Hemoglobin SC Disease   10 studies
• Hemoglobinopathies   197 studies
• Hemophilia A   93 studies
• Hemophilia B   23 studies
• Hepatolenticular Degeneration   4 studies
• Hereditary Motor and Sensory Neuropathies   36 studies
• Heredodegenerative Disorders, Nervous System   213 studies
• Hermanski-Pudlak Syndrome   4 studies
• Hernia, Umbilical   5 studies
• Hip Dislocation, Congenital   8 studies
• Hirschsprung Disease   3 studies
• Holoprosencephaly   5 studies
• Homocystinuria   2 studies
• Huntington Disease   35 studies
• Hyaline Membrane Disease   5 studies
• Hydrocephalus   21 studies
• Hydrophthalmos   3 studies
• Hydrops Fetalis   1 study
• Hyper-IgM Immunodeficiency Syndrome, Type 1   9 studies
• Hyperbilirubinemia, Neonatal   6 studies
• Hyperhomocysteinemia   11 studies
• Hyperkeratosis, Epidermolytic   1 study
• Hyperlipidemia, Familial Combined   20 studies
• Hyperlipoproteinemia Type II   39 studies
• Hyperlipoproteinemia Type III   3 studies
• Hyperlipoproteinemia Type IV   4 studies
• Hyperlipoproteinemia Type V   3 studies
• Hyperoxaluria, Primary   6 studies
• Hypoalphalipoproteinemias   4 studies
• Hypobetalipoproteinemias   4 studies
• Hypokalemic Periodic Paralysis   2 studies
• Hypolipoproteinemias   8 studies
• Hypophosphatasia   2 studies
• Hypophosphatemia, Familial   3 studies
• Hypophosphatemic Rickets, X-Linked Dominant   3 studies
• Hypoplastic Left Heart Syndrome   12 studies
• Ichthyosiform Erythroderma, Congenital   3 studies
• Ichthyosis   9 studies
• Ichthyosis Vulgaris   1 study
• Ichthyosis, Lamellar   4 studies
• Ichthyosis, X-Linked   1 study
• Infant, Newborn, Diseases   431 studies
• Infant, Premature, Diseases   83 studies
• Intracranial Arteriovenous Malformations   2 studies
• Jaundice, Neonatal   3 studies
• Kallmann Syndrome   11 studies
• Kartagener Syndrome   8 studies
• Keratoderma, Palmoplantar   1 study
• Keratoderma, Palmoplantar, Diffuse   1 study
• Keratosis Follicularis   2 studies
• Klinefelter Syndrome   4 studies
• Lactose Intolerance   3 studies
• Lafora Disease   1 study
• Laron Syndrome   2 studies
• Lesch-Nyhan Syndrome   1 study
• Leukodystrophy, Globoid Cell   6 studies
• Leukodystrophy, Metachromatic   10 studies
• Leukomalacia, Periventricular   11 studies
• Li-Fraumeni Syndrome   1 study
• Lipid Metabolism, Inborn Errors   176 studies
• Lipidoses   97 studies
• Long QT Syndrome   12 studies
• Lymphatic Abnormalities   4 studies
• Lysosomal Storage Diseases   157 studies
• Malformations of Cortical Development   14 studies
• Mannosidase Deficiency Diseases   5 studies
• Marfan Syndrome   8 studies
• Maxillofacial Abnormalities   15 studies
• Meconium Aspiration Syndrome   7 studies
• MELAS Syndrome   2 studies
• Meningocele   3 studies
• Meningomyelocele   4 studies
• Menkes Kinky Hair Syndrome   1 study
• Metabolism, Inborn Errors   427 studies
• Mevalonate Kinase Deficiency   1 study
• Microcephaly   2 studies
• Microphthalmos   3 studies
• Mineralocorticoid Excess Syndrome, Apparent   1 study
• Mucolipidoses   4 studies
• Mucopolysaccharidoses   28 studies
• Mucopolysaccharidosis I   18 studies
• Mucopolysaccharidosis II   5 studies
• Mucopolysaccharidosis IV   1 study
• Mucopolysaccharidosis VI   9 studies
• Mucopolysaccharidosis VII   1 study
• Multiple Endocrine Neoplasia   10 studies
• Muscular Dystrophies   44 studies
• Muscular Dystrophies, Limb-Girdle   4 studies
• Muscular Dystrophy, Duchenne   24 studies
• Muscular Dystrophy, Facioscapulohumeral   4 studies
• Muscular Dystrophy, Oculopharyngeal   1 study
• Musculoskeletal Abnormalities   54 studies
• Myasthenic Syndromes, Congenital   1 study
• Myotonia Congenita   2 studies
• Myotonic Dystrophy   14 studies
• Nail-Patella Syndrome   1 study
• Neonatal Abstinence Syndrome   7 studies
• Neoplastic Syndromes, Hereditary   110 studies
• Nephritis, Hereditary   3 studies
• Nervous System Malformations   83 studies
• Neural Tube Defects   48 studies
• Neuroacanthocytosis   1 study
• Neurocutaneous Syndromes   61 studies
• Neurofibromatoses   34 studies
• Neurofibromatosis 1   29 studies
• Neurofibromatosis 2   7 studies
• Neuronal Ceroid-Lipofuscinoses   5 studies
• Neuronal Migration Disorders   1 study
• Niemann-Pick Disease, Type A   8 studies
• Niemann-Pick Disease, Type B   1 study
• Niemann-Pick Disease, Type C   8 studies
• Niemann-Pick Diseases   8 studies
• Noonan Syndrome   2 studies
• Nystagmus, Congenital   2 studies
• Oculocerebrorenal Syndrome   2 studies
• Ophthalmia Neonatorum   1 study
• Optic Atrophies, Hereditary   4 studies
• Optic Atrophy, Hereditary, Leber   1 study
• Ornithine Carbamoyltransferase Deficiency Disease   5 studies
• Orofaciodigital Syndromes   1 study
• Osteogenesis Imperfecta   13 studies
• Pachyonychia Congenita   1 study
• Paralysis, Hyperkalemic Periodic   1 study
• Peroxisomal Disorders   16 studies
• Persistent Fetal Circulation Syndrome   11 studies
• Persistent Hyperinsulinemia Hypoglycemia of Infancy   2 studies
• Peutz-Jeghers Syndrome   3 studies
• Phenylketonuria, Maternal   1 study
• Phenylketonurias   18 studies
• Platybasia   1 study
• Polydactyly   2 studies
• Porokeratosis   1 study
• Porphyria Cutanea Tarda   3 studies
• Porphyria, Acute Intermittent   3 studies
• Porphyria, Erythropoietic   15 studies
• Porphyrias   15 studies
• Porphyrias, Hepatic   8 studies
• Port-Wine Stain   11 studies
• Prader-Willi Syndrome   12 studies
• Progeria   3 studies
• Protein C Deficiency   2 studies
• Proteus Syndrome   1 study
• Protoporphyria, Erythropoietic   3 studies
• Pseudohermaphroditism   2 studies
• Pseudohypoaldosteronism   4 studies
• Pseudohypoparathyroidism   4 studies
• Pseudopseudohypoparathyroidism   2 studies
• Pseudoxanthoma Elasticum   4 studies
• Pulmonary Atresia   3 studies
• Purine-Pyrimidine Metabolism, Inborn Errors   21 studies
• Refsum Disease   2 studies
• Refsum Disease, Infantile   2 studies
• Respiratory Distress Syndrome, Newborn   14 studies
• Retinitis Pigmentosa   32 studies
• Retinopathy of Prematurity   24 studies
• Retrognathism   1 study
• Rett Syndrome   10 studies
• Sandhoff Disease   5 studies
• Septo-Optic Dysplasia   11 studies
• Severe Combined Immunodeficiency   21 studies
• Sickle Cell Trait   5 studies
• Situs Inversus   11 studies
• Skin Abnormalities   51 studies
• Skin Diseases, Genetic   179 studies
• Smith-Lemli-Opitz Syndrome   9 studies
• Spastic Paraplegia, Hereditary   1 study
• Sphingolipidoses   94 studies
• Spinal Dysraphism   13 studies
• Spinal Muscular Atrophies of Childhood   6 studies
• Spinocerebellar Ataxias   7 studies
• Spinocerebellar Degenerations   16 studies
• Syndactyly   2 studies
• Tangier Disease   1 study
• Tay-Sachs Disease   6 studies
• Telangiectasia, Hereditary Hemorrhagic   16 studies
• Tetralogy of Fallot   15 studies
• Thalassemia   89 studies
• Thrombasthenia   2 studies
• Tooth Abnormalities   2 studies
• Tourette Syndrome   47 studies
• Toxoplasmosis, Congenital   2 studies
• Transposition of Great Vessels   9 studies
• Tricuspid Atresia   4 studies
• Truncus Arteriosus, Persistent   1 study
• Tuberous Sclerosis   11 studies
• Turner Syndrome   29 studies
• Tyrosinemias   2 studies
• Unverricht-Lundborg Syndrome   4 studies
• Urogenital Abnormalities   48 studies
• Usher Syndromes   5 studies
• Vascular Malformations   38 studies
• Velopharyngeal Insufficiency   1 study
• Von Willebrand Disease   21 studies
• Werner Syndrome   1 study
• Williams Syndrome   2 studies
• Wilms Tumor   105 studies
• Wiskott-Aldrich Syndrome   12 studies
• Wolff-Parkinson-White Syndrome   1 study
• Wolman Disease   3 studies
• X-Linked Combined Immunodeficiency Diseases   3 studies
• Xanthomatosis, Cerebrotendinous   2 studies
• Xeroderma Pigmentosum   6 studies
• Zellweger Syndrome   2 studies
  

Clinical Trials Authorship and Review

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