المؤلفون: Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Juaregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-18 (2021)

مصطلحات موضوعية: Genetics, Pulmonary arterial hypertension, Exome sequencing, Genome sequencing, Case-control association testing, De novo variant analysis, Medicine, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/7d26217cb5954a278edcedd89f0346c6

المؤلفون: Na Zhu, Michael W. Pauciulo, Carrie L. Welch, Katie A. Lutz, Anna W. Coleman, Claudia Gonzaga-Jauregui, Jiayao Wang, Joseph M. Grimes, Lisa J. Martin, Hua He, PAH Biobank Enrolling Centers’ Investigators, Yufeng Shen, Wendy K. Chung, William C. Nichols

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Genetics, Pulmonary arterial hypertension, Exome sequencing, Case-control association testing, Medicine, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-019-0685-z; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/776446f435e24d23b47dd597dcf09d77

المؤلفون: Na Zhu, Michael W. Pauciulo, Carrie L. Welch, Katie A. Lutz, Anna W. Coleman, Claudia Gonzaga-Jauregui, Jiayao Wang, Joseph M. Grimes, Lisa J. Martin, Hua He, PAH Biobank Enrolling Centers’ Investigators, Yufeng Shen, Wendy K. Chung, William C. Nichols

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/e712785ffbae4b4893bdcfebd917e484

المؤلفون: Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/2f9c2543b76a476ea740d73fa0a70388

المؤلفون: Zhu, Na, Pauciulo, Michael W, Welch, Carrie L, Lutz, Katie A, Coleman, Anna W, Gonzaga-Jauregui, Claudia, Wang, Jiayao, Grimes, Joseph M, Martin, Lisa J, He, Hua, PAH Biobank Enrolling Centers’ Investigators, Shen, Yufeng, Chung, Wendy K, Nichols, William C

المصدر: Genome medicine. 11(1)

مصطلحات موضوعية: PAH Biobank Enrolling Centers’ Investigators, Humans, Genetic Predisposition to Disease, Gene Expression Profiling, Age of Onset, Adult, Aged, Middle Aged, Female, Male, Hemodynamics, Genetic Variation, Genome-Wide Association Study, Exome, Biomarkers, Whole Exome Sequencing, Pulmonary Arterial Hypertension, Case-control association testing, Exome sequencing, Genetics, Pulmonary arterial hypertension, Clinical Sciences

URL الوصول: https://escholarship.org/uc/item/9vn9t1rs

المؤلفون: Zhu, N, Swietlik, EM, Welch, CL, Pauciulo, MW, Hagen, JJ, Zhou, X, Guo, Y, Karten, J, Pandya, D, Tilly, T, Lutz, KA, Martin, JM, Treacy, CM, Rosenzweig, EB, Krishnan, U, Coleman, AW, Gonzaga-Jauregui, C, Lawrie, A, Trembath, RC, Wilkins, MR, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Morrell, NW, Shen, Y, Gräf, S, Nichols, WC, Chung, WK

وصف الملف: application/pdf; application/vnd.ms-powerpoint; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/113408/1/s13073-021-00891-1.pdf; https://openaccess.sgul.ac.uk/id/eprint/113408/9/13073_2021_891_MOESM1_ESM.pptx; https://openaccess.sgul.ac.uk/id/eprint/113408/10/13073_2021_891_MOESM2_ESM.docx; Zhu, N; Swietlik, EM; Welch, CL; Pauciulo, MW; Hagen, JJ; Zhou, X; Guo, Y; Karten, J; Pandya, D; Tilly, T; et al. Zhu, N; Swietlik, EM; Welch, CL; Pauciulo, MW; Hagen, JJ; Zhou, X; Guo, Y; Karten, J; Pandya, D; Tilly, T; Lutz, KA; Martin, JM; Treacy, CM; Rosenzweig, EB; Krishnan, U; Coleman, AW; Gonzaga-Jauregui, C; Lawrie, A; Trembath, RC; Wilkins, MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell, NW; Shen, Y; Gräf, S; Nichols, WC; Chung, WK (2021) Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Med, 13 (1). p. 80. ISSN 1756-994X https://doi.org/10.1186/s13073-021-00891-1 SGUL Authors: Southgate, Laura

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113408/
https://openaccess.sgul.ac.uk/id/eprint/113408/1/s13073-021-00891-1.pdf
https://openaccess.sgul.ac.uk/id/eprint/113408/9/13073_2021_891_MOESM1_ESM.pptx
https://openaccess.sgul.ac.uk/id/eprint/113408/10/13073_2021_891_MOESM2_ESM.docx

المؤلفون: Zhu, Na, Swietlik, Emilia M, Welch, Carrie L, Pauciulo, Michael W, Hagen, Jacob J, Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A, Martin, Jennifer M, Treacy, Carmen M, Rosenzweig, Erika B, Krishnan, Usha, Coleman, Anna W, Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C, Wilkins, Martin R, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Morrell, Nicholas W, Shen, Yufeng, Gräf, Stefan, Nichols, William C, Chung, Wendy K

مصطلحات موضوعية: Case-control association testing, De novo variant analysis, Exome sequencing, Genetics, Genome sequencing, Pulmonary arterial hypertension, Adolescent, Adult, Age of Onset, Aged, Alleles, Amino Acid Substitution, Biomarkers, Calcium-Binding Proteins, Child, Preschool, Extracellular Matrix Proteins, Female, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Lymphokines, Male, Middle Aged, Mutation, Phenotype, Platelet-Derived Growth Factor, Population Surveillance, United Kingdom

وصف الملف: application/pdf; application/zip; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/325959

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/325959
https://doi.org/10.17863/CAM.73416

المؤلفون: Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M, Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L, Chung, Wendy K, Berger, Rolf MF, Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara MA, Kerstjens-Frederikse, Wilhelmina, Kiely, David G, Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J, Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, AA Roger, Wharton, John, Wort, Stephen J, Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M, Martin, Jennifer M, Li, Wei, Swift, Andrew J, Upton, Paul D, Morrell, Nicholas W, Gräf, Stefan, Valverde, Diana, NIHR BioResource For Translational Research–Rare Diseases, National Cohort Study Of Idiopathic And Heritable PAH, PAH Biobank Enrolling Centers’ Investigators

المساهمون: Prapa, Matina [0000-0002-2717-5463], Lago-Docampo, Mauro [0000-0002-8799-6079], Montani, David [0000-0002-9358-6922], Humbert, Marc [0000-0003-0703-2892], Welch, Carrie L [0000-0003-3521-4458], Chung, Wendy K [0000-0003-3438-5685], Berger, Rolf MF [0000-0002-4385-5784], Bogaard, Harm Jan [0000-0001-5371-0346], Danhaive, Olivier [0000-0002-8208-3086], Escribano-Subías, Pilar [0000-0002-6640-4839], Gall, Henning [0000-0001-7016-7373], Jansen, Samara MA [0000-0003-3493-3573], Kerstjens-Frederikse, Wilhelmina [0000-0003-2528-2203], Lapunzina, Pablo [0000-0002-6324-4825], McDermott, John [0000-0002-5220-8837], Moledina, Shahin [0000-0003-0262-2340], Pepke-Zaba, Joanna [0000-0003-3764-3563], Polwarth, Gary J [0000-0003-0344-3088], Tenorio-Castaño, Jair [0000-0002-5308-2316], Thompson, AA Roger [0000-0002-0717-4551], Wharton, John [0000-0001-8110-2575], Megy, Karyn [0000-0002-2826-3879], Li, Wei [0000-0002-1924-3120], Morrell, Nicholas W [0000-0001-5700-9792], Gräf, Stefan [0000-0002-1315-8873], Valverde, Diana [0000-0002-7024-1657], Apollo - University of Cambridge Repository

مصطلحات موضوعية: interstitial lung disease, Lung Diseases, gain-of-function, Phenotype, Genotype, pulmonary arterial hypertension, Gain of Function Mutation, Mutation, Humans, TBX4, T-Box Domain Proteins, Bone Morphogenetic Protein Receptors, Type II, lung developmental disease

وصف الملف: application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a950e29c6584a9fd27f36094d553ce

المؤلفون: Heritable Pah, Yufeng Shen, Emilia M. Swietlik, Nicholas W. Morrell, Michael W. Pauciulo, William C. Nichols, Yicheng Guo, Katie A. Lutz, Erika B. Rosenzweig, Jacob J. Hagen, Pah Biobank Enrolling Centers’ Investigators, Divya Pandya, Johannes Karten, Stefan Gräf, Claudia Gonzaga-Juaregiu, Tobias Tilly, Allan Lawrie, Carrie L. Welch, Richard C. Trembath, Xueya Zhou, Anna W. Coleman, Wendy K. Chung, Martin R. Wilkins, Na Zhu, Usha Krishnan

مصطلحات موضوعية: Genetics, Candidate gene, Right ventricular hypertrophy, business.industry, Heart failure, medicine, Disease, Age of onset, medicine.disease, business, Gene, Genome, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::97c722f1afb21b01f0880f81d262bb3c
https://doi.org/10.1101/2020.05.29.124255

المؤلفون: Karyn Megy, William C. Nichols, Chung K. Wendy, Jonathan Stephens, Nicholas W. Morrell, Christopher J. Penkett, Stefan Gräf, Tobias Tilly, Richard C. Trembath, Michael W. Pauciulo, Divya Pandya, Carrie L. Welch, Carmen M. Treacy, Allan Lawrie, Smitha Rajaram, Martin R. Wilkins, Yufeng Shen, Emilia M. Swietlik, Andrew J. Swift, Laura Southgate, Marcella Cogliano, Na Zhu, Heritable Pah, Katie A. Lutz, Daniel Greene, US Pah Biobank Enrolling Centers' Investigators, Jennifer M. Martin

مصطلحات موضوعية: Genetics, 0303 health sciences, Candidate gene, Kinase insert domain receptor, Biology, Bayesian inference, medicine.disease, Phenotype, Pulmonary hypertension, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Missing heritability problem, 030220 oncology & carcinogenesis, Rare mutations, medicine, Gene, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aefc2b08f58f6acceecbdbdf86411295
https://doi.org/10.1101/2019.12.11.871210

المؤلفون: William C. Nichols, Katie A. Lutz, Pah Biobank Enrolling Centers’ Investigators, Yufeng Shen, Anna W. Coleman, Claudia Gonzaga-Jauregui, Michael W. Pauciulo, Lisa J. Martin, Wendy K. Chung, Hua He, Na Zhu, Carrie L. Welch, Joseph M. Grimes, Jiayao Wang

المصدر: Genome medicine, vol 11, iss 1
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Exome sequencing, PAH Biobank Enrolling Centers’ Investigators, lcsh:Medicine, Disease, 030204 cardiovascular system & hematology, Bioinformatics, Pulmonary arterial hypertension, Cardiovascular, Whole Exome Sequencing, 0302 clinical medicine, 2.1 Biological and endogenous factors, Exome, Age of Onset, Aetiology, Lung, Genetics (clinical), Middle Aged, 3. Good health, Case-control association testing, Molecular Medicine, Female, Adult, lcsh:QH426-470, Clinical Sciences, Gamma-glutamyl carboxylase, 03 medical and health sciences, Rare Diseases, Right ventricular hypertrophy, Clinical Research, medicine, Genetics, Humans, Genetic Predisposition to Disease, Molecular Biology, Gene, Aged, business.industry, Research, Gene Expression Profiling, lcsh:R, Human Genome, Hemodynamics, Genetic Variation, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, Heart failure, business, Biomarkers, Rare disease, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9ef36d2f9445b430647c0111413a9b
https://escholarship.org/uc/item/9vn9t1rs

المؤلفون: Zhu, Na, Swietlik, Emilia M, Welch, Carrie L, Pauciulo, Michael W, Hagen, Jacob J, Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A, Martin, Jennifer M, Treacy, Carmen M, Rosenzweig, Erika B, Krishnan, Usha, Coleman, Anna W, Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C, Wilkins, Martin R, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Morrell, Nicholas W, Shen, Yufeng, Gräf, Stefan, Nichols, William C, Chung, Wendy K

مصطلحات موضوعية: Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH

وصف الملف: application/pdf; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/324205

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/324205
https://doi.org/10.17863/CAM.71663