نتائج البحث - "Jeffrey J. Johnston"

1

Academic Journal

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

المؤلفون: Craig Smail, Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren A. Cheung, Jeffrey J. Johnston, Cassandra Barrett, Genomic Answers for Kids Consortium, Keith Feldman, Ana S. A. Cohen, Emily G. Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastinen

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ba3f8c0e8d37484786aec71e82e5e7fc

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2

Academic Journal

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/10ee8f5178214fda98a06dc46647c12e

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3

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

المؤلفون: Ana S.A. Cohen, Emily G. Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan M. Amudhavalli, John T. Anderson, Lalit Bansal, Lauren Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra L. Engleman, Erin D. Fecske, Cynthia Fieser, Keely Fitzgerald, Emily A. Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce A. Heese, Wendy Hein, Suzanne M. Herd, Susan S. Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussmann, Christine Lambert, Caitlin Lawson, Jean-Baptiste Le Pichon, James Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M.B. Puckett, Julio F. Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah Soden, Meghan E. Strenk, Bonnie R. Sullivan, Brooke R. Sweeney, Jade B. Tam-Williams, Adam M. Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, Tomi Pastinen

المصدر: Genetics in Medicine. 24:1336-1348

مصطلحات موضوعية: Genome, Rare Diseases, High-Throughput Nucleotide Sequencing, Humans, Genomics, Sequence Analysis, DNA, Child, Genetics (clinical), Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fae080f2e98a691a62cb07ca295bd7e
https://doi.org/10.1016/j.gim.2022.02.007

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4

ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis

المؤلفون: Ravi Mangal Patel, Neil A. Miller, Heather Menden, Venkatesh Sampath, Kimberly J. Reid, Jeffrey J Johnston, Atif A. Ahmed, Wei Yu, Emily G. Farrow, Lovya George Md, Anne Holmes, Neil P. Mulrooney, Sheng Xia, Cassandra D. Josephson

المصدر: Journal of Pediatric Gastroenterology & Nutrition. 72:e37-e41

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd5bc3d771baf63071ec1e1991b0c6c4
https://doi.org/10.1097/mpg.0000000000002941

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5

Insurance denials and diagnostic rates in a pediatric genomic research cohort

المصدر: Genetics in Medicine. 25:100020

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b180ab0366dbf936078c45a8121c275
https://doi.org/10.1016/j.gim.2023.100020

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6

Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

المؤلفون: Jeffrey J Johnston, Samantha N. Hartin, John C. Means, Scott T. Younger, Jasmine A. McQuerry, Tomi Pastinen, Merry Mclaird

مصطلحات موضوعية: Whole genome sequencing, Genome, Multidisciplinary, Whole Genome Sequencing, medicine.diagnostic_test, Genetic variants, Genomics, Computational biology, Biology, Functional interpretation, Undiagnosed Diseases, Rare Diseases, medicine, Humans, Identification (biology), Massively parallel, Genetic testing, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c29905c8d8c613f74ec986906d8c68d
https://doi.org/10.1101/2021.11.02.21265771

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7

IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

المؤلفون: Jill Jacobson, Keith A Coffman, Susan S Hughes, Caitlin Lawson, Erin D Fecske, Ahmed T Abdelmoity, Thuy Tien T Dang, Annapoorna Nair, Janda L Jenkins, Kendra L Engleman, Daniel A Louiselle, Orion Buske, Nigel Price, Dihong Zhou, Michael Lypka, Courtney D Berrios, Laura Mb Puckett, Kelsee Halpin, Ana Sa Cohen, Nikita Raje, Aaron M Wenger, Emily G Farrow, Keely Fitzgerald, Mohammed Ilyas, Kailash Pawar, Joseph T Alaimo, Jennifer L Gannon, Laurel K Willig, Jean-Baptiste Le Pichon, Shivarajan M Amudhavalli, Christopher M Oermann, Rebecca L Biswell, Shelby H Neal, Lalit Bansal, Elizabeth Shaffer, Brittany D McDonald, Bonnie R Sullivan, Isabelle Thiffault, Christine Lambert, Ashley M Cooper, Suzanne M Herd, Holly Welsh, Julio F Quezada, Carol J Saunders, Caitlin Schwager, Brian S Harvey, Adam M Walter, Donna M Pacicca, Jennifer Kussmann, Rose N Gelineau-Morel, Margaret Gibson, Elin Grundberg, Shao Jiang, Scott T Younger, Steve Leeder, Richard M Schwend, John T Anderson, Venkatesh Sampath, Jonas Korlach, Bryce A Heese, Meghan E Strenk, Neil Miller, Vicki C Little, Ann Modrcin, Brooke R Sweeney, Randi N Gadea, Nyshele L Posey, Emily A Fleming, Wendy Hein, Cynthia Fieser, Eric T Rush, Laura A Cross, Craig Smail, William J Rowell, Kathryn Keeler, Jeffrey Goldstein, Tricia N Zion, Warren A. Cheung, Sarah Soden, Lauren Bartik, Bradley Belden, Thomas Curran, Pawel Buczkowicz, Shreyasee Chakraborty, Yun Yan, Tomi Pastinen, Primo Baybayan, Mary M Elfrink, Jeffrey J Johnston, Jade B Tam-Williams

مصطلحات موضوعية: Unknown Significance, Pedigree chart, Computational biology, Allele, Biology, Gene, Genome, Exome, DNA sequencing, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b55ee732f1ec32f314eebddcd46b6b25
https://doi.org/10.1101/2021.10.07.21264628

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8

Single-cell analysis of human adipose tissue identifies depot- and disease-specific cell types

المصدر: Nature Metabolism. 2:97-109

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cacbc823a4b47d618ffb4663bedf025e
https://doi.org/10.1038/s42255-019-0152-6

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9

Delta-like 4 is required for pulmonary vascular arborization and alveolarization in the developing lung

المؤلفون: Venkatesh Sampath, Thomas R. Korfhagen, Heather Menden, Michael F. Nyp, Jeffrey J Johnston, Daniel P. Heruth, Sheng Xia, Sherry M Mabry, Nick Townley

المصدر: JCI Insight
JCI Insight, Vol 6, Iss 7 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Bronchiole, Pulmonology, Molecular biology, Angiogenesis, Endothelial cells, Cell, Neovascularization, Physiologic, Haploinsufficiency, Biology, 03 medical and health sciences, 0302 clinical medicine, Vascular Biology, Internal medicine, medicine, Animals, Humans, Hypoxia, Lung, Adaptor Proteins, Signal Transducing, Calcium-Binding Proteins, Gene Expression Regulation, Developmental, Alveolar septum, General Medicine, respiratory system, Mice, Mutant Strains, Mice, Inbred C57BL, Pulmonary Alveoli, 030104 developmental biology, medicine.anatomical_structure, Alveolar Epithelial Cells, 030220 oncology & carcinogenesis, cardiovascular system, Medicine, Lung morphogenesis, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2e377f95c4192cdfa80733dff56ecba
https://doi.org/10.1172/jci.insight.134170

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10

Immune cell residency in the nasal mucosa and COVID-19 severity across the age range

المؤلفون: Tomi Pastinen, Konner Winkley, Boryana S. Koseva, Elin Grundberg, Daniel Louiselle, Posey N, Moffatt Me, Jeffrey J Johnston, Warren A. Cheung, Fatheree K, Dithi Banerjee, McDanel S, Rebecca Biswell, Rangaraj Selvarangan, Todd Bradley

مصطلحات موضوعية: ARDS, Innate immune system, business.industry, Mucous membrane of nose, Disease, medicine.disease_cause, medicine.disease, Immune system, medicine.anatomical_structure, Immunology, medicine, business, Receptor, Coronavirus, Respiratory tract

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::97970cdb871b42f7de00c05afb1c480f
https://doi.org/10.1101/2021.02.05.21251067

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11

Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections

المؤلفون: Jeffrey J Johnston, Tomi Pastinen, Emily G. Farrow, Angela L. Myers, Venkatesh Sampath, Megan H Tucker, Lauren Cummings, Margaret Gibson

المصدر: Pediatrics. 147(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, viruses, Pilot Projects, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Immune system, Pregnancy, 030225 pediatrics, Exome Sequencing, medicine, Humans, Disseminated disease, Pregnancy Complications, Infectious, Immunodeficiency, Exome sequencing, GRB2 Adaptor Protein, TNF Receptor-Associated Factor 3, business.industry, Perforin, Infant, Newborn, Genetic Variation, Nuclear Proteins, Scavenger Receptors, Class A, Herpes Simplex, RNA Nucleotidyltransferases, medicine.disease, Complement C7, Complement C6, Toll-Like Receptor 3, DNA-Binding Proteins, Herpes simplex virus, STAT1 Transcription Factor, Pediatrics, Perinatology and Child Health, Immunology, Medical genetics, Female, Interferon Regulatory Factor-3, business, Encephalitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8cbe0e4b668f34b2e50889a0ddb33f
https://pubmed.ncbi.nlm.nih.gov/33386334

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12

Single-cell analysis of human adipose tissue identifies depot and disease specific cell types

المصدر: Nat Metab

مصطلحات موضوعية: Adult, Male, Gene Expression Profiling, High-Throughput Nucleotide Sequencing, Middle Aged, Article, Adipose Tissue, Metabolic Diseases, Adipocytes, Body Fat Distribution, Humans, Female, Obesity, Single-Cell Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f62201cd6fae507b6e8f23051126ce6e
https://pubmed.ncbi.nlm.nih.gov/32066997

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13

Three‐dimensional landslide structure from seismic refraction data analysis: A case study from Blind Canyon, Northern Santa Ana Mountains, California

المؤلفون: Elizabeth L. Ambos, Jeffrey J. Johnston

المصدر: SEG Technical Program Expanded Abstracts 1994.

مصطلحات موضوعية: Canyon, geography, geography.geographical_feature_category, Landslide, Seismic refraction, Geomorphology, Seismology, Geology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9338409e7622c7d0194abb3d45d3cc39
https://doi.org/10.1190/1.1931997

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