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1دورية أكاديميةP464: ROH pipeline enables analysis of regions of homozygosity using next generation sequencing data
المؤلفون: Manavalan Gajapathy, Brandon Wilk, Donna Brown, Caroline Vrana-Diaz, Jessica Bohonowych, Theresa Strong, Elizabeth Worthey
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100511- (2023)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Gurpreet Kaur, Donna Brown, Brandon Wilk, Manavalan Gajapathy, Tarun Karthik Mamidi, Shaurita Hutchins, Camille Birch, Felipe Massicano, Jinmyung Choi, Sangita Murali, Huichuan Lai, Philip Farrell, Elizabeth Worthey
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100539- (2023)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Vishal H Oza, Jordan H Whitlock, Elizabeth J Wilk, Angelina Uno-Antonison, Brandon Wilk, Manavalan Gajapathy, Timothy C Howton, Austyn Trull, Lara Ianov, Elizabeth A Worthey, Brittany N Lasseigne
المصدر: PLoS Computational Biology, Vol 19, Iss 1, p e1010749 (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: James M. Holt, Brandon Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Undiagnosed Diseases Network, Elizabeth A. Worthey
المصدر: BMC Bioinformatics, Vol 20, Iss 1, Pp 1-10 (2019)
مصطلحات موضوعية: Clinical genome sequencing, Variant prioritization, Binary classification, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5
المؤلفون: Manavalan Gajapathy, Brandon Wilk, Donna Brown, Elizabeth Worthey
المصدر: Genetics in Medicine. 24:S219-S220
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ab966387e37474939daea0bfa4a9f79c
https://doi.org/10.1016/j.gim.2022.01.385 -
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المؤلفون: Philip M. Farrell, Elizabeth A. Worthey, Donna M. Brown, Sangita G. Murali, HuiChuan J. Lai, Manavalan Gajapathy, Brandon Wilk
المصدر: Molecular Genetics and Metabolism. 132:S193-S194
مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Biochemistry, Cystic fibrosis, Endocrinology, Internal medicine, Cohort, Genetics, medicine, Identification (biology), business, Molecular Biology
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7
المؤلفون: James Holt, Arthur Weborg, Donna M. Brown, Manavalan Gajapathy, Elizabeth A. Worthey, Dalton Moran, Brandon Wilk, Tarun Karthik Kumar Mamidi, Alexander C. Moss
المصدر: Molecular Genetics and Metabolism. 132:S195
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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8
المصدر: Vision Research. 130:57-66
مصطلحات موضوعية: Adult, Male, Fovea Centralis, Optics and Photonics, medicine.medical_specialty, Adolescent, genetic structures, Surrogate measure, 01 natural sciences, Article, 010309 optics, Ophthalmoscopy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Optics, Optical coherence tomography, Foveal, Ophthalmology, 0103 physical sciences, medicine, Humans, Child, Aged, Physics, medicine.diagnostic_test, business.industry, Segment length, Middle Aged, Albinism, Ocular, Retinal Photoreceptor Cell Outer Segment, medicine.disease, eye diseases, Sensory Systems, Hypoplasia, Cone (topology), Aniridia, Case-Control Studies, Retinal Cone Photoreceptor Cells, 030221 ophthalmology & optometry, Female, sense organs, business, Tomography, Optical Coherence
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9
المؤلفون: David Dimmock, Elizabeth A. Worthey, Juliet N. Kersten, Thomas May, Daniel Helbling, Paula E. North, Brandon Wilk, Mary Shimoyama, Regan Veith, Howard J. Jacob, Steven R. Leuthner, Rodney E. Willoughby, Tina Hambuch, David P. Bick, Sasha Z. Prisco, Michael F. Gutzeit, James W. Verbsky, Kimberly A. Strong, Bryce A. Schuler, Jeremy M. Harris, Scott K. Van Why, Pamela C. Fraser, Arthur Weborg
المصدر: Journal of Pediatric Genetics. :061-076
مصطلحات موضوعية: 0301 basic medicine, Whole genome sequencing, medicine.medical_specialty, Medical surveillance, business.industry, PDGFRB, Disease, Bioinformatics, Genome, 03 medical and health sciences, 030104 developmental biology, Internal medicine, Pediatrics, Perinatology and Child Health, Genetics clinic, medicine, Medical genetics, Pilot program, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97288ff04f465147e03bf4644979b426
https://doi.org/10.1055/s-0036-1593968 -
10
المؤلفون: Elizabeth A. Worthey, Camille L. Birch, Anita Laxova, Brandon Wilk, Donna M. Brown, Philip M. Farrell, Melissa A. Wilk, James Holt, Nadiya Sosonkina, Andrew T. Braun
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Male, Research Report, Cystic Fibrosis, bronchiectasis, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Pharmacogenomic Variants, 0302 clinical medicine, Genotype, Medicine, Child, multiple bilateral pneumothoraces, 0303 health sciences, elevated sweat chloride, General Medicine, Prognosis, exocrine pancreatic insufficiency, Respiratory Function Tests, Phenotype, Child, Preschool, meconium ileus, Cohort, diabetes mellitus, Radiography, Thoracic, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, chronic lung disease, 03 medical and health sciences, Neonatal Screening, Humans, Exocrine pancreatic insufficiency, 030304 developmental biology, Newborn screening, Bronchiectasis, Whole Genome Sequencing, business.industry, Siblings, Infant, Newborn, Genetic Variation, medicine.disease, Pharmacogenomic Testing, 030228 respiratory system, Pharmacogenomics, Immunology, Mutation, recurrent Aspergillus infections, business, Biomarkers, Genome-Wide Association Study, recurrent respiratory infections
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b629024d10a387cf3988e08853b29d
https://pubmed.ncbi.nlm.nih.gov/32014855