المؤلفون: Samuel P. Strom, Waheeda A. Hossain, Melina Grigorian, Mickey Li, Joseph Fierro, William Scaringe, Hai-Yun Yen, Mirandy Teguh, Joanna Liu, Harry Gao, Merlin G. Butler

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: streamlined molecular diagnostics, whole-exome sequencing, copy number variants, point mutations, methylation status, Prader–Willi syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.608889/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4520fe8605644d6ca460d43ba3987f8d

المؤلفون: Camilla S. Teng, Hai-Yun Yen, Lindsey Barske, Bea Smith, Juan Llamas, Neil Segil, John Go, Pedro A. Sanchez-Lara, Robert E. Maxson, J. Gage Crump

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/8e338a76f99742b7ba7c7902ebdbc3e9

المؤلفون: Ying Liu, Hai-Yun Yen, Theresa Austria, Jonas Pettersson, Janos Peti-Peterdi, Robert Maxson, Martin Widschwendter, Louis Dubeau

المصدر: EBioMedicine, Vol 2, Iss 10, Pp 1318-1330 (2015)

مصطلحات موضوعية: Brca1, Familial cancer predisposition, Müllerian inhibiting substance, Mouse model of breast and ovarian cancer, Cell non-autonomous mechanism of cancer predisposition, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396415301171; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/46eb1f5f37d245b7b54ad8195794fba6

المؤلفون: Ying Liu, Malcolm C Pike, Nancy Wu, Yvonne G Lin, Sara Mucowski, Vasu Punj, Yuan Tang, Hai-Yun Yen, Frank Z Stanczyk, Elena Enbom, Theresa Austria, Martin Widschwendter, Robert Maxson, Louis Dubeau

المصدر: PLoS ONE, Vol 10, Iss 10, p e0139013 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4619541?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b09d9e9a92f140f1bafec24c02dc1366

المؤلفون: Ludwig Haydock, Hanlin Gao, Paul Isenring, Hai-Yun Yen, Raphaël Harrisson, Alexandre P. Garneau, Laurence E. Tremblay

المصدر: Journal of Molecular Medicine (Berlin, Germany)

مصطلحات موضوعية: Adult, Male, Candidate gene, Genetic testing, Thrombotic microangiopathy, Adolescent, Biopsy, 030204 cardiovascular system & hematology, Atypical uremic syndrome, Young Adult, 03 medical and health sciences, Glomerulonephritis, 0302 clinical medicine, Glomerulopathy, Drug Discovery, Atypical hemolytic uremic syndrome, medicine, Humans, C3 glomerulopathy, Exome, Genetics (clinical), Exome sequencing, Aged, Atypical Hemolytic Uremic Syndrome, Retrospective Studies, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, medicine.diagnostic_test, business.industry, Complement C3, Middle Aged, medicine.disease, 3. Good health, Immunology, Alternative complement pathway, Molecular Medicine, Original Article, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b962553d1b58d16bb11b60e6dd5f08
https://doi.org/10.1007/s00109-021-02102-1

المؤلفون: Hanlin Gao, Alan W Zhong, Che-Yu Lee, Hai-Yun Yen

المصدر: Human Genetics. 140:477-492

مصطلحات موضوعية: 0303 health sciences, education.field_of_study, Pseudogene, 030305 genetics & heredity, Population, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Read depth, Computational biology, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Sequence identity, 03 medical and health sciences, Human disease, Genetics, Humans, Multiplex ligation-dependent probe amplification, Carrier screening, education, Algorithms, Pseudogenes, Genetics (clinical), Analysis method, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0e061f9b72295dcd33625d451a6132
https://doi.org/10.1007/s00439-020-02216-5

المؤلفون: Joanna Liu, Mirandy Teguh, Harry Gao, Samuel P. Strom, Merlin G. Butler, Hai-Yun Yen, William A Scaringe, Waheeda A. Hossain, Mickey Li, Melina Grigorian, Joseph Fierro

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Prader–Willi syndrome, point mutations, Rett syndrome, streamlined molecular diagnostics, 030105 genetics & heredity, Uniparental Heterodisomy, QH426-470, 03 medical and health sciences, Angelman syndrome, Genetics, Medicine, Copy-number variation, Multiplex ligation-dependent probe amplification, whole-exome sequencing, Genetics (clinical), Exome sequencing, Original Research, methylation status, business.industry, Molecular diagnostics, medicine.disease, 030104 developmental biology, Uniparental Isodisomy, Molecular Medicine, business, copy number variants

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3064770a28cff693773b3efb890f47
https://pubmed.ncbi.nlm.nih.gov/34046054

المؤلفون: Bea Smith, Camilla S Teng, Neil Segil, Robert E. Maxson, Hai-Yun Yen, Lindsey Barske, J. Gage Crump, Pedro A. Sanchez-Lara, Juan Llamas, John L. Go

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Hearing loss, Hearing Loss, Sensorineural, Science, Incus, Ear, Middle, Biology, Article, Mice, 03 medical and health sciences, medicine, Animals, Humans, Inner ear, Receptor, Notch2, Zebrafish, Stapes, Mice, Knockout, Multidisciplinary, Cartilage, Gene Expression Regulation, Developmental, Anatomy, medicine.disease, biology.organism_classification, Alagille Syndrome, 030104 developmental biology, medicine.anatomical_structure, Neural Crest, Middle ear, Medicine, Sensorineural hearing loss, medicine.symptom, Jagged-1 Protein, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f26c6f1f823e9b85bc2bfc77b23c8d
https://doaj.org/article/8e338a76f99742b7ba7c7902ebdbc3e9

المؤلفون: Joseph Fierro, Casey J Brewer, Hanlin Gao, Hai-Yun Yen, Jie Mickey Li, William A Scaringe, Che-Yu Lee, Samuel P. Strom, Meghan Gillespie

المصدر: The Journal of molecular diagnostics : JMD. 22(5)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Heterozygote, Genotype, Inheritance Patterns, Germline mosaicism, Computational biology, Biology, DNA sequencing, Pathology and Forensic Medicine, Recurrence risk, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Humans, Allele, Gene, Alleles, Sanger sequencing, Mosaicism, Inheritance (genetic algorithm), Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Pedigree, 030104 developmental biology, Germ Cells, 030220 oncology & carcinogenesis, Mutation, symbols, Molecular Medicine, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a44868eb7199a94f5d166c619f339f
https://pubmed.ncbi.nlm.nih.gov/32092540

المؤلفون: Lindsey Miller, Merujan Y. Uzunyan, Elisabeth M. Lodder, David J. Tester, Julian Delanne, Hai Yun Yen, Géraldine Bertaux, Michael J. Ackerman, Connie R. Bezzina, Apichai Khongphatthanayothin, Shoji Yano, Sylvie Falcon-Eicher, Bryan C. Cannon, Hanlin Gao, Mischa Klerk, Shengnan Wu, Gabriel Laurent, Laurence Faivre, Arthur A.M. Wilde, Svitlana Podliesna

المساهمون: Department of Clinical and Experimental Cardiology (Heart Center, Academic Medical Center, Amsterdam), Academic Medical Center [Amsterdam, Netherlands], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Keck School of Medicine [Los Angeles], University of Southern California (USC), Mayo Clinic, Service de Cardiologie [CHU de Dijon], Fulgent Genetics (Temple City, California), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Genetic and Immunology Medical Institute (GIMI), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Cardiology, Graduate School, ACS - Heart failure & arrhythmias

المصدر: Heart Rhythm
Heart Rhythm, Elsevier, 2019, 16 (1), pp.98-105. ⟨10.1016/j.hrthm.2018.07.015⟩
Heart rhythm, 16(1), 98-105. Elsevier

مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, Kinase, Adolescent, Conduction disease, Blotting, Western, DNA Mutational Analysis, Cardiomyopathy, Dilated cardiomyopathy, Magnetic Resonance Imaging, Cine, 030204 cardiovascular system & hematology, Protein Serine-Threonine Kinases, Sudden death, 03 medical and health sciences, Young Adult, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Heart Conduction System, Physiology (medical), Cardiac conduction, medicine, Tachycardia, Supraventricular, Genetics, Humans, 030212 general & internal medicine, Genetic Testing, Kinase activity, Cells, Cultured, business.industry, Rare variant, TNNI3K, DNA, medicine.disease, Pedigree, Protein autophosphorylation, Supraventricular tachycardia, Junctional tachycardia, Mutation, Female, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d694f76dd1fdc1418ca55809047ac078
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01990544