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1. Full Text Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
by Ory, Daniel S and Ottinger, Elizabeth A and Farhat, Nicole Yanjanin and King, Kelly A and Jiang, Xuntian and Weissfeld, Lisa and Berry-Kravis, Elizabeth and Davidson, Cristin D and Bianconi, Simona and Keener, Lee Ann and Rao, Ravichandran and Soldatos, Ariane and Sidhu, Rohini and Walters, Kimberly A and Xu, Xin and Thurm, Audrey and Solomon, Beth and Pavan, William J and Machielse, Bernardus N and Kao, Mark and Silber, Steven A and McKew, John C and Brewer, Carmen C and Vite, Charles H and Walkley, Steven U and Austin, Christopher P and Porter, Forbes D
The Lancet, ISSN 0140-6736, 10/2017, Volume 390, Issue 10104, pp. 1758 - 1768
Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing,... 
MIGLUSTAT THERAPY | STORAGE | MEDICINE, GENERAL & INTERNAL | HEPATOCELLULAR-CARCINOMA | CHOLESTEROL | BIOMARKER | CYCLODEXTRIN | CALBINDIN-D | PATIENT | BRAIN | CHILDREN | Injections, Spinal | Niemann-Pick Disease, Type C - drug therapy | 2-Hydroxypropyl-beta-cyclodextrin - adverse effects | Humans | Rare Diseases - drug therapy | Hearing Loss, High-Frequency - chemically induced | Child, Preschool | Niemann-Pick Disease, Type C - cerebrospinal fluid | Fatty Acid Binding Protein 3 - cerebrospinal fluid | Male | Biomarkers - blood | Hydroxycholesterols - cerebrospinal fluid | 2-Hydroxypropyl-beta-cyclodextrin - administration & dosage | Disease Progression | Dose-Response Relationship, Drug | Young Adult | Adolescent | Calbindins - cerebrospinal fluid | Female | Hydroxycholesterols - blood | Biomarkers - cerebrospinal fluid | Niemann-Pick Disease, Type C - blood | Child | Niemann-Pick disease | Medical research | Genetic disorders | Research & development--R&D | Clinical trials | Patients | Cholesterol | Studies | Cyclodextrin | Neurodegeneration | Biomarkers | Drug therapy | Drug dosages | Cerebellum | Slopes | Regulatory agencies | Animal models | Medical services | Childrens health | Hepatocellular carcinoma | Cognition | Cyclodextrins | Cerebrospinal fluid | Dosage | Proteins | Randomization | Npc1 protein | Bioindicators | Safety | Age | Health | FDA approval | Hearing loss | Domains | Medical centres | Life span | Hearing aids | Mastoiditis | Ototoxicity
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2. Full Text JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
by Montealegre Sanchez, Gina A and Reinhardt, Adam and Ramsey, Suzanne and Wittkowski, Helmut and Hashkes, Philip J and Berkun, Yackov and Schalm, Susanne and Murias, Sara and Dare, Jason A and Brown, Diane and Stone, Deborah L and Gao, Ling and Klausmeier, Thomas and Foell, Dirk and De Jesus, Adriana A and Chapelle, Dawn C and Kim, Hanna and Dill, Samantha and Colbert, Robert A and Failla, Laura and Kost, Bahar and O’Brien, Michelle and Reynolds, James C and Folio, Les R and Calvo, Katherine R and Paul, Scott M and Weir, Nargues and Brofferio, Alessandra and Soldatos, Ariane and Biancotto, Angelique and Cowen, Edward W and Digiovanna, John J and Gadina, Massimo and Lipton, Andrew J and Hadigan, Colleen and Holland, Steven M and Fontana, Joseph and Alawad, Ahmad S and Brown, Rebecca J and Rother, Kristina I and Heller, Theo and Brooks, Kristina M and Kumar, Parag and Brooks, Stephen R and Waldman, Meryl and Singh, Harsharan K and Nickeleit, Volker and Silk, Maria and Prakash, Apurva and Janes, Jonathan M and Ozen, Seza and Wakim, Paul G and Brogan, Paul A and Macias, William L and Goldbach-Mansky, Raphaela
Journal of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3041 - 3052
BACKGROUND. Monogenic IFN-mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ... 
RHEUMATOID-ARTHRITIS | MEDICINE, RESEARCH & EXPERIMENTAL | PROTEIN | EFFICACY | DISEASE | PROTEASOME SUBUNIT | LIPODYSTROPHY | MONOCYTES | MUTATIONS | I INTERFERONOPATHIES | CHILDREN | Hereditary autoinflammatory diseases | Physiological aspects | Interferon | Research | Diagnosis | Drug therapy | Risk factors | Corticoids | Viremia | Gastroenteritis | Genes | High temperature | Kinases | Metabolic syndrome | Proteins | Vascular diseases | Risk assessment | Patient safety | Skin diseases | Janus kinase | Remission | Cytokines | Mortality | Leukocytes (neutrophilic) | Inflammation | Prednisone | Patients | Quality of life | Rheumatoid arthritis | Viruria | Biomarkers | Lipodystrophy | Bone mineral density | Diabetes | Mutation
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3. Full Text Outcomes measures in children after acute central nervous system infections and malaria
by Postels, Douglas G and Soldatos, Ariane and LaRovere, Kerri L
Current opinion in pediatrics, ISSN 1040-8703, 08/2019, Volume 31, Issue 6, pp. 756 - 762
Acute central nervous system (CNS) infections in children result in significant mortality and neurologic morbidity worldwide. This article summarizes the... 
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4. Full Text Treatment Strategies for Deficiency of Adenosine Deaminase 2
by Ombrello, Amanda K and Hoffmann, Patrycja M and Qin, Jing and Sheldon, Sherry L and Kastner, Daniel L and Kelly, Susan and Flegel, Willy A and Man, Ada and Zhou, Qing and Soldatos, Ariane and Kumar, Parag and Stone, Deborah and Barron, Karyl and Hershfield, Michael and Deuitch, Natalie and Jones, Anne and Romeo, Tina and Aksentijevich, Ivona and Barham, Beverly and Pinto-Patarroyo, Gineth and Toro, Camilo
The New England Journal of Medicine, ISSN 0028-4793, 04/2019, Volume 380, Issue 16, pp. 1582 - 1584
The manifestations of a deficiency of adenosine deaminase 2, a genetic disease, include early-onset lacunar stroke. In a series of 15 patients with this... 
PHENOTYPE | MEDICINE, GENERAL & INTERNAL | Plasma | Stroke - prevention & control | Adenosine Deaminase - genetics | Humans | Intercellular Signaling Peptides and Proteins - genetics | Child, Preschool | Antibodies, Monoclonal - therapeutic use | Metabolism, Inborn Errors - therapy | Secondary Prevention | Infliximab - therapeutic use | Young Adult | Adalimumab - therapeutic use | Adolescent | Adult | Intercellular Signaling Peptides and Proteins - deficiency | Metabolism, Inborn Errors - drug therapy | Adenosine Deaminase - deficiency | Drug Therapy, Combination | Child | Tumor Necrosis Factor-alpha - antagonists & inhibitors | Etanercept - therapeutic use | Adenosine | Stroke | Anemia | Tumor necrosis factor | Tumor necrosis factor-TNF | TNF inhibitors | Adenosine deaminase | Patients | Age
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5. Full Text Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
by Vilboux, Thierry and Doherty, Daniel A and Glass, Ian A and Parisi, Melissa A and Phelps, Ian G and Cullinane, Andrew R and Zein, Wadih and Brooks, Brian P and Heller, Theo and Soldatos, Ariane and Oden, Neal L and Yildirimli, Deniz and Vemulapalli, Meghana and Mullikin, James C and Malicdan, May Christine V and Gahl, William A and Gunay-Aygun, Meral and NISC Comparative Sequencing Progra
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Purpose: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brain-stem malformations... 
Ciliopathy | Next-generation sequencing | Clinical and molecular diagnosis | Joubert syndrome | CILIOPATHIES | VARIANTS | clinical and molecular diagnosis | next-generation sequencing | MOLAR TOOTH | ciliopathy | FAMILY | HINDBRAIN | DISEASE | GENETICS & HEREDITY | MUTATIONS | MIDBRAIN | Molecular Probes | Kidney Diseases, Cystic - diagnosis | Prospective Studies | Retinal Degeneration - diagnosis | Humans | Kidney Diseases - diagnosis | Coloboma - genetics | Child, Preschool | Infant | Male | Cerebellum - abnormalities | Kidney Diseases - genetics | Young Adult | Molecular Diagnostic Techniques | Kidney Diseases, Cystic - genetics | Adult | Female | Child | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - physiopathology | Eye Abnormalities - diagnosis | Liver Diseases - genetics | Coloboma - diagnosis | Retinal Degeneration - genetics | Retina - physiopathology | Cerebellum - physiopathology | Eye Abnormalities - genetics | Abnormalities, Multiple - physiopathology | Whole Genome Sequencing | Abnormalities, Multiple - diagnosis | Adolescent | Retina - abnormalities | Eye Abnormalities - physiopathology | Liver Diseases - diagnosis | Cohort Studies | Retina | Genes | Kidney diseases
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6. Full Text Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
by Bone, William P and Washington, Nicole L and Buske, Orion J and Adams, David R and Davis, Joie and Draper, David and Flynn, Elise D and Girdea, Marta and Godfrey, Rena and Golas, Gretchen and Groden, Catherine and Jacobsen, Julius and Köhler, Sebastian and Lee, Elizabeth M.J and Links, Amanda E and Markello, Thomas C and Mungall, Christopher J and Nehrebecky, Michele and Robinson, Peter N and Sincan, Murat and Soldatos, Ariane G and Tifft, Cynthia J and Toro, Camilo and Trang, Heather and Valkanas, Elise and Vasilevsky, Nicole and Wahl, Colleen and Wolfe, Lynne A and Boerkoel, Cornelius F and Brudno, Michael and Haendel, Melissa A and Gahl, William A and Smedley, Damian
Genetics in Medicine, ISSN 1098-3600, 06/2016, Volume 18, Issue 6, pp. 608 - 617
Purpose: Medical diagnosis and molecular or biochemical :confirmation typically rely on the knowledge of the clinician. Although this is very difficult in... 
phenotype | undiagnosed diseases | exome sequencing | semantic comparison | model organisms | WALKING | GENETICS & HEREDITY | PRIORITIZATION | MUTATIONS | ONSET | INTERACTOME | Rare Diseases - genetics | Rare Diseases - physiopathology | Genetic Association Studies | United States | Humans | Computational Biology | Rare Diseases - diagnosis | Databases, Genetic | Rare Diseases - epidemiology | Zebrafish | Patients | Whole Exome Sequencing - methods | Genetic Variation | National Institutes of Health (U.S.) | Exome - genetics | Phenotype | Animals | Mice | Disease Models, Animal | Original
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7. Full Text Pan-viral serology implicates enteroviruses in acute flaccid myelitis
by Schubert, Ryan D and Hawes, Isobel A and Ramachandran, Prashanth S and Ramesh, Akshaya and Crawford, Emily D and Pak, John E and Wu, Wesley
Nature Medicine, ISSN 1078-8956, 11/2019, Volume 25, Issue 11, pp. 1748 - 1752
Since 2012, the United States of America has experienced a biennial spike in pediatric acute flaccid myelitis (AFM)1–6. Epidemiologic evidence suggests... 
Myelitis | Enteroviruses | Care and treatment | Nervous system diseases | Research | Enrichment | VP1 protein | Pediatrics | Peptides | Phages | Antibodies | Serology | Cerebrospinal fluid | Ribonucleic acid--RNA | Epidemiology | Disease control | Gene sequencing | Neurological diseases | Vertebrates | Phage display | Next-generation sequencing | Etiology | Poliomyelitis
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8. Full Text Neuroimmune disorders of the central nervous system in children in the molecular era
by Wells, Elizabeth and Hacohen, Yael and Waldman, Amy and Tillema, Jan M and Soldatos, Ariane and Ances, Beau and Benseler, Susanne and Bielekova, Bibi and Dale, Russel C and Dalmau, Josep and Gaillard, William and Gorman, Mark and Greenberg, Benjamin and Hyslop, Ann and Pardo, Carlos A and Tasker, Robert C and Yeh, E. Ann and Bar-Or, Amit and Pittock, Sean and Vanderver, Adeline and Banwell, Brenda and attendees of the International Neuroimmune Meeting and on behalf of the attendees of the International Neuroimmune Meeting
Nature Reviews Neurology, ISSN 1759-4758, 07/2018, Volume 14, Issue 7, pp. 433 - 445
Immune-mediated disorders of the CNS in children are a complex group of demyelinating, inflammatory, parainfectious and postinfectious disorders with... 
MYELIN OLIGODENDROCYTE GLYCOPROTEIN | AICARDI-GOUTIERES-SYNDROME | DIFFERENTIAL-DIAGNOSIS | NEUROMYELITIS-OPTICA | ASPARTATE RECEPTOR ENCEPHALITIS | SIMPLEX-VIRUS ENCEPHALITIS | AUTOIMMUNE ENCEPHALITIS | HERPES-SIMPLEX | DEMYELINATING SYNDROMES | PEDIATRIC MULTIPLE-SCLEROSIS | CLINICAL NEUROLOGY | Multiple sclerosis | Immune response | Central nervous system | Children | Research | Diagnosis | Health aspects
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9. Full Text Author Correction: Neuroimmune disorders of the central nervous system in children in the molecular era
by Wells, Elizabeth and Hacohen, Yael and Waldman, Amy and Tillema, Jan M and Soldatos, Ariane and Ances, Beau and Benseler, Susanne and Bielekova, Bibi and Dale, Russel C and Dalmau, Josep and Gaillard, William and Gorman, Mark and Greenberg, Benjamin and Hyslop, Ann and Pardo, Carlos A and Tasker, Robert C and Yeh, E Ann and Bar-Or, Amit and Pittock, Sean and Vanderver, Adeline and Banwell, Brenda and attendees of the International Neuroimmune Meeting and on behalf of the attendees of the International Neuroimmune Meeting
Nature reviews. Neurology, ISSN 1759-4758, 12/2018, Volume 14, Issue 12, pp. 749 - 749
In the original version of this Review published online and in print, the contribution of attendees of the International Neuroimmune Meeting to the content of... 
Neurosciences
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10. Full Text Case Definitions, Diagnostic Algorithms, and Priorities in Encephalitis: Consensus Statement of the International Encephalitis Consortium
by A. Venkatesan and A. R. Tunkel and K. C. Bloch and A. S. Lauring and J. Sejvar and A. Bitnun and J-P. Stahl and A. Mailles and M. Drebot and C. E. Rupprecht and J. Yoder and J. R. Cope and M. R. Wilson and R. J. Whitley and J. Sullivan and J. Granerod and C. Jones and K. Eastwood and K. N. Ward and D. N. Durrheim and M. V. Solbrig and L. Guo-Dong and C. A. Glaser and International Encephalitis Consortium and on behalf of the International Encephalitis Consortium
Clinical Infectious Diseases, ISSN 1058-4838, 10/2013, Volume 57, Issue 8, pp. 1114 - 1128
Background. Encephalitis continues to result in substantial morbidity and mortality worldwide. Advances in diagnosis and management have been limited, in part,... 
Polymerase chain reaction | Encephalitis | Nervous system diseases | Viral diseases | Antibodies | Viruses | Serology | Cerebrospinal fluid | ARTICLES AND COMMENTARIES | Epidemiology | Diseases | guidelines | host genetics | viral | autoimmune | encephalitis | INFECTIOUS DISEASES | NMDA-RECEPTOR ENCEPHALITIS | WEST-NILE-VIRUS | CAT-SCRATCH DISEASE | MICROBIOLOGY | IMMUNOLOGY | CEREBROSPINAL-FLUID | ACUTE CHILDHOOD ENCEPHALITIS | MYCOPLASMA-PNEUMONIAE | POLYMERASE-CHAIN-REACTION | CENTRAL-NERVOUS-SYSTEM | IMMUNOGLOBULIN-M IGM | HERPES-SIMPLEX ENCEPHALITIS | Encephalitis - diagnosis | Algorithms | Diagnostic Techniques and Procedures - standards | Humans | Adult | Child | Consensus | Practice guidelines (Medicine) | Medical protocols | Care and treatment | Diagnosis | Research | and Commentaries
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11. Full Text Defective ciliogenesis in INPP5E‐related Joubert syndrome
by Hardee, Isabel and Soldatos, Ariane and Davids, Mariska and Vilboux, Thierry and Toro, Camilo and David, Karen L and Ferreira, Carlos R and Nehrebecky, Michele and Snow, Joseph and Thurm, Audrey and Heller, Theo and Macnamara, Ellen F and Gunay‐Aygun, Meral and Zein, Wadih M and Gahl, William A and Malicdan, May Christine V
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3231 - 3237
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance... 
rare disorders | Joubert syndrome | INPP5E | molar‐tooth sign | ciliopathy | molar-tooth sign | INPP5E MUTATIONS | AUTOPHAGOSOME-LYSOSOME FUSION | CILIOPATHIES | DISEASE | GENETICS & HEREDITY | DISORDERS | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Humans | Kidney Diseases, Cystic - diagnostic imaging | Cerebellum - abnormalities | Ciliopathies - diagnosis | Young Adult | Ciliopathies - genetics | Cerebellum - diagnostic imaging | Kidney Diseases, Cystic - genetics | Female | Abnormalities, Multiple - genetics | Phosphoric Monoester Hydrolases - genetics | Cilia - pathology | Abnormalities, Multiple - diagnostic imaging | Eye Abnormalities - genetics | Fibroblasts - pathology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Homozygote | Magnetic Resonance Imaging | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Pedigree | Adolescent | Retina - abnormalities | Mutation | Retina - pathology | Ciliopathies - pathology | Medicine, Experimental | Medical research | Inositol | Phosphatases | RNA | Analysis | Cerebellum | Brain | Brain stem | Congenital defects | Teeth | Cognitive ability | Inositol polyphosphate | Retina | mRNA | Neurodevelopmental disorders | Sleep disorders | Apnea | Magnetic resonance imaging | Polydactyly | Fibroblasts | Retinal degeneration | Hindbrain | Ataxia | Dystrophy | Inositol-1,4,5-trisphosphate 5-phosphatase | Cilia
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12. Full Text Chronic meningitis investigated via metagenomic next-generation sequencing
by Wilson, Michael R and O'Donovan, Brian D and Gelfand, Jeffrey M and Sample, Hannah A and Chow, Felicia C and Betjemann, John P and Shah, Maulik P and Richie, Megan B and Gorman, Mark P and Hajj-Ali, Rula A and Calabrese, Leonard H and Zorn, Kelsey C and Chow, Eric D and Greenlee, John E and Blum, Jonathan H and Green, Gary and Khan, Lillian M and Banerji, Debarko and Langelier, Charles and Bryson-Cahn, Chloe and Harrington, Whitney and Lingappa, Jairam R and Shanbhag, Niraj M and Green, Ari J and Brew, Bruce J and Soldatos, Ariane and Strnad, Luke and Doernberg, Sarah B and Jay, Cheryl A and Douglas, Vanja and Josephson, S. Andrew and DeRisi, Joseph L
JAMA Neurology, ISSN 2168-6149, 08/2018, Volume 75, Issue 8, pp. 947 - 955
IMPORTANCE Identifying infectious causes of subacute or chronic meningitis can be challenging Enhanced, unbiased diagnostic approaches are needed. OBJECTIVE To... 
CANDIDA-DUBLINIENSIS | DIAGNOSIS | ENCEPHALITIS | CLINICAL NEUROLOGY | Online First | Original Investigation | Research
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13. Full Text The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
by Lawrence, Lauren and Lawrence, Lauren and Sincan, Murat and Sincan, Murat and Markello, Thomas and Markello, Thomas and Adams, David R and Adams, David R and Gill, Fred and Gill, Fred and Godfrey, Rena and Godfrey, Rena and Golas, Gretchen and Golas, Gretchen and Groden, Catherine and Groden, Catherine and Landis, Dennis and Landis, Dennis and Nehrebecky, Michele and Nehrebecky, Michele and Park, Grace and Park, Grace and Soldatos, Ariane and Soldatos, Ariane and Tifft, Cynthia and Tifft, Cynthia and Toro, Camilo and Toro, Camilo and Wahl, Colleen and Wahl, Colleen and Wolfe, Lynne and Wolfe, Lynne and Gahl, William A and Gahl, William A and Boerkoel, Cornelius F and Boerkoel, Cornelius F
Genetics in Medicine, ISSN 1098-3600, 10/2014, Volume 16, Issue 10, pp. 741 - 750
Purpose: Using exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number... 
Secondary variants | Familial | NIH undiagnosed diseases program | Exome sequencing | Incidental findings | ACMG RECOMMENDATIONS | DEFECTIVE APOLIPOPROTEIN B-100 | NIH Undiagnosed Diseases Program | SCN5A VARIANTS | familial | PENETRANCE | exome sequencing | CARDIAC SODIUM-CHANNEL | HYPERTROPHIC CARDIOMYOPATHY | PATHOGENICITY | GENETICS & HEREDITY | COMMON | incidental findings | MUTATIONS | HIGH PREVALENCE | secondary variants | Genetic Predisposition to Disease - genetics | United States | Humans | Middle Aged | Genetic Diseases, Inborn - genetics | Incidental Findings | Family Health | Male | Genetic Counseling | Metabolism, Inborn Errors - genetics | Genome, Human - genetics | Genetic Variation | National Institutes of Health (U.S.) | Young Adult | Exome - genetics | Metabolism, Inborn Errors - diagnosis | Adolescent | Adult | Female | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Cohort Studies
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