المؤلفون: Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, Christine Eng, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, John W. Belmont

المصدر: Genome Medicine, Vol 9, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Congenital heart disease, Cardiac malformation, Developmental disorder, Rare disease, Whole exome sequence, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-017-0482-5; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/1959731fdcb748ae9e55ad3d875f098c

المؤلفون: David J. Carey, Cristen J. Willer, Anthony Marcketta, Claudia Schurmann, Leland Barnard, John Penn, Suganthi Balasubramanian, Daren Liu, Joseph B. Leader, Gonçalo R. Abecasis, Marcus B. Jones, John C. Whittaker, Ashutosh K. Pandey, Ida Surakka, David H. Ledbetter, Evan Maxwell, John D. Overton, Andrew Blumenfeld, Michael N. Cantor, Robert A. Scott, Wendy K. Chung, Alexander H. Li, Alexander Lopez, Joshua D. Backman, Matthew R. Nelson, Jeffrey Staples, Giovanni Coppola, Jonathan Marchini, Xiaodong Bai, Kavita Praveen, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Aris N. Economides, Shareef Khalid, William J Salerno, Bin Ye, Cristopher V. Van Hout, Kristian Hveem, Jeffrey G. Reid, Colm O'Dushlaine, Joshua D. Hoffman, Laura M. Yerges-Armstrong, Nilanjana Banerjee, Sean O'Keeffe, Ioanna Tachmazidou, Lon R. Cardon, Alicia Hawes, Aris Baras, Ashish Yadav, George D. Yancopoulos, Lukas Habegger

المصدر: Nature

مصطلحات موضوعية: Male, 0301 basic medicine, Genes, BRCA2, Genes, BRCA1, Hasso-Plattner-Institut für Digital Engineering GmbH, Penetrance, 030204 cardiovascular system & hematology, Ion Channels, 0302 clinical medicine, Bone Density, Loss of Function Mutation, Neoplasms, Databases, Genetic, Genetics research, Genotype, Exome, Exome sequencing, Biological Specimen Banks, education.field_of_study, Multidisciplinary, Genomics, Middle Aged, Biobank, Pedigree, Phenotype, ras GTPase-Activating Proteins, Female, Kidney Diseases, Population, Collagen Type VI, Computational biology, Biology, Article, DNA sequencing, Varicose Veins, 03 medical and health sciences, Exome Sequencing, Humans, education, Alleles, Aged, Demography, Rare variants, Peptide Fragments, United Kingdom, 030104 developmental biology, ddc:000, Next-generation sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ab735e634b5fbdecb40d0100536fd9
https://doi.org/10.1038/s41586-020-2853-0

المؤلفون: Jack A. Kosmicki, Charles Paulding, Nan Lin, Andrew J. Murphy, Jerome I. Rotter, Brian Zambrowicz, Niek Verweij, Luca A. Lotta, Michal L. Schwartzman, Giusy Della Gatta, Yii-Der Ida Chen, Alexander H. Li, Suganthi Balasubramanian, Jason M. Torres, Hyun Min Kang, Rory Collins, Parsa Akbari, Michael E. Dunn, Gonçalo R. Abecasis, Christian Benner, David J. Carey, Svati H. Shah, Jonathan Marchini, Giovanni Coppola, Marcus B. Jones, Olle Melander, Christopher D. Still, Yi-Ya Fang, Olukayode A. Sosina, Manuel A. R. Ferreira, Roberto Tapia-Conyer, Michael Cantor, Aris N. Economides, Dylan Sun, Adam E. Locke, Jonathan V. Pascale, Daniel J. Rader, Ankit Gilani, Joelle Mbatchou, Jesus Alegre-Díaz, Mark W. Sleeman, Trikaldarshi Persaud, Jeffrey G. Reid, Pablo Kuri-Morales, Jaime Berumen-Campos, John D. Overton, Aris Baras, Ercument Dirice, Sakib Hossain, Alicia Hawes, George D. Yancopoulos, Jonathan Emberson, Victor Garcia, Judith Altarejos, Lori Khrimian, Katia Karalis, William E. Kraus, Tooraj Mirshahi, Kevin Agostinucci, Alan R. Shuldiner

المساهمون: Center, Regeneron Genetics, Collaboration, DiscovEHR

المصدر: Science

مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Multidisciplinary, Body Weight, Genomics, Organ Size, Biology, medicine.disease, Obesity, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genetic variation, medicine, Medical genetics, Humans, medicine.symptom, Body mass index, Weight gain, 030217 neurology & neurosurgery, Exome sequencing, Glycemic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df724bff85dd4d7320fb650eae3fa2a5
https://doi.org/10.1126/science.abf8683

المؤلفون: Joy S. Zeng, Vineet Padia, Grace Y. Chen, Joseph H. Maalouf, Aditya M. Limaye, Alexander H. Liu, Michael A. Yusov, Ian W. Hunter, Karthish Manthiram

المصدر: ACS Central Science, Vol 10, Iss 7, Pp 1348-1356 (2024)

مصطلحات موضوعية: Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2374-7951

URL الوصول: https://doaj.org/article/f627ba0028a34dc28d8d1c1f30381ff2

المؤلفون: Scott Waldron, Alexander H. Li, Joan O'Brien, Katia Karalis, Stefanie Lefebvre, Gaurang Patel, Silvio Alessandro Di Gioia, Kristi Krebs, Hua Yang, Dadong Li, Ariane Ayer, Wen Fury, Ying Hu, Eric Jorgenson, James McIninch, Olle Melander, Giusy Della Gatta, Trikaladarshi Persaud, Ben Michael Brumpton, Claudia Schurmann, Stefan Stender, Eli A. Stahl, Michael N. Cantor, Venkata Gudiseva, Aris Baras, Marcus B. Jones, Dylan Sun, Jonathan Weyne, Manuel A. R. Ferreira, Tavé van Zyl, Lauren Gurski, Rebecca Salowe, Esteban Chen, Sarah Hyde, Gonçalo R. Abecasis, Kavita Praveen, Anne Tybjærg-Hansen, Giovanni Coppola, Matthew Still, Venkata Chavali, Tanya M. Teslovich, Lili Milani, Aris N. Economides, Sabrina Walley, Sarthak Zaveri, Kristian Hveem, Jeremey Rabinowitz, Carmelo Romano, Lawrence Miloscio, Bjørn Olav Åsvold, Brijeshkumar Patel, Cristen J. Willer, Anne-Sofie Seidelin, George D. Yancopoulos

مصطلحات موضوعية: genetic structures, business.industry, medicine, Glaucoma, sense organs, Computational biology, medicine.disease, business, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::219d76d2c081fca1d948423689385635
https://doi.org/10.21203/rs.3.rs-858876/v1

المؤلفون: Martin I. Jones, Joseph D. Szustakowski, Giorgio Sirugo, Lukas Habegger, Adam J. Mansfield, Will Salerno, Joshua D. Backman, Athanasios Kousathanas, David J. Carey, Yi-Pin Lai, James F. Wilson, Alison M. Meynert, Anne E. Justice, Alexander H. Li, Jack A. Kosmicki, Anthony Marcketta, Sándor Szalma, Shane McCarthy, A. R. Shuldiner, A. Baras, Daniel J. Rader, Michael N. Cantor, Ashish Yadav, Manuel A. R. Ferreira, F. S. P. Kury, Konrad Rawlik, Loukas Moutsianas, Gonçalo R. Abecasis, Susan P. Walker, Xing Chen, Albert Tenesa, Paul Nioi, Adam E. Locke, Guillaume Butler-Laporte, E. N. Smith, Richard H Scott, Gundula Povysil, Joseph B. Leader, Lauren Gurski, Dorota Pasko, Marylyn D. Ritchie, A. Cordova-Palomera, Kyoko Watanabe, Colm O'Dushlaine, A. O'Neill, Tomoko Nakanishi, Erola Pairo-Castineira, Xiuwen Zheng, Emily Wong, Jeffrey G. Reid, Slavé Petrovski, Julie E. Horowitz, Anurag Verma, Justin W. Davis, Dylan Sun, Sahar Esmaeeli, Heiko Runz, Quanli Wang, John D. Overton, Shareef Khalid, Tooraj Mirshahi, Evan Maxwell, Mark J. Caulfield, Mark Lathrop, Olympe Chazara, Deepika Sharma, David Goldstein, Jonathan Marchini, Xiaodong Bai, Suganthi Balasubramanian, Krzysztof Kiryluk, Nilanjana Banerjee, Rouel Lanche, J. B. Richards, Hyun Min Kang, J. K. Baillie, Yunfeng Huang, Sean O'Keeffe, Erika Kvikstad, Margaret M. Parker, Joelle Mbatchou

المصدر: American Journal of Human Genetics
2021, ' Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2021.05.017

مصطلحات موضوعية: Male, 0301 basic medicine, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Biology, 03 medical and health sciences, Current sample, 0302 clinical medicine, Data sequences, Report, Exome Sequencing, Genetics, Humans, Exome, Genetic Predisposition to Disease, 030212 general & internal medicine, Gene, Genetics (clinical), SARS-CoV-2, COVID-19, Prognosis, Hospitalization, 030104 developmental biology, Sample Size, Multiple comparisons problem, Susceptibility locus, Female, Interferons

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e76c4cbfadf4bffed84b525d70957b
http://europepmc.org/articles/PMC8173480

المؤلفون: Manuel A. R. Ferreira, Ali Naji, Todd L. Edwards, Anne E. Justice, Marylyn D. Ritchie, John D. Overton, Theodore G. Drivas, Nathan Katz, Ying H. Shen, Yanming Li, Renae Judy, Anastasia Lucas, Amanda Dobbyn, Anurag Verma, Scott M. Damrauer, Daniel J. Rader, Geetha Chittoor, Maria Fasolino, Xinyuan Zhang, Jinbo Chen, Scott A. LeMaire, Alexander H. Li, Joseph H. Breeyear, Rachel L. Kember, Kumardeep Chaudhary, Joseph Park, JoEllen Weaver, Shadi Ahmadmehrabi, Alan Daugherty, Hisashi Sawada, Yuki Bradford, Klaus H. Kaestner, Jeffrey G. Reid, Ron Do, Navya Shilpa Josyula, Golnaz Vahedi, Girish N. Nadkarni, Judy H. Cho, Chen Zhang, Aris Baras, Venkata R M Chavali

المصدر: Nat Med

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Population, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, Exome Sequencing, Electronic Health Records, Humans, Exome, education, Exome sequencing, Aged, Genetics, education.field_of_study, Computational Biology, General Medicine, Biobank, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a14e815fc8981dcb22592d74596aad7
https://europepmc.org/articles/PMC8775355/

المؤلفون: Marie V. Coignet, Dylan Sun, Lukas Habegger, Evan Maxwell, Daniel J. Rader, David J. Carey, Katherine A. Siminovitch, Giorgio Sirugo, Anne E. Justice, Joelle Mbatchou, Eli A. Stahl, Gonçalo R. Abecasis, Alexander H. Li, David A. Turissini, Adam E. Locke, Kristin A. Rand, Aris Baras, Joseph B. Leader, Genevieve H.L. Roberts, Ahna R. Girshick, Deepika Sharma, Nilanjana Banerjee, Fabricio S. P. Kury, John D. Overton, Shane McCarthy, Jonathan Marchini, Xiaodong Bai, Eurie L. Hong, Rouel Lanche, Amy Damask, Ashish Yadav, Raghavendran Partha, Shannon R. McCurdy, Miao Zhang, Suganthi Balasubramanian, Hyun Min Kang, Anurag Verma, Marcus B. Jones, Marylyn D. Ritchie, Colm O'Dushlaine, Manuel A. R. Ferreira, Adam J. Mansfield, Anthony Marcketta, Joshua D. Backman, Alan R. Shuldiner, Michael N. Cantor, Tooraj Mirshahi, Lee Dobbyn, Spencer C. Knight, William J Salerno, Harenda Guturu, Jeffrey G. Reid, Julie E. Horowitz, Lauren Gurski, Danny S. Park, Kyoko Watanabe, Catherine A. Ball, Asher K. Haug Baltzell, Jack A. Kosmicki

مصطلحات موضوعية: 2019-20 coronavirus outbreak, Increased risk, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Genetic variants, MEDLINE, Severe disease, Medicine, Bioinformatics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1e1331fb38faa9a04f624deb1333af5b
https://doi.org/10.1101/2020.12.14.20248176

المؤلفون: Anurag Verma, Anne E. Justice, Guillaume Butler-Laporte, E. N. Smith, Lukas Habegger, Joelle Mbatchou, Susan P. Walker, Albert Tenesa, Joseph D. Szustakowski, Konrad Rawlik, Dylan Sun, Loukas Moutsianas, Shane McCarthy, Richard H Scott, Aris Baras, Evan Maxwell, Aldo Cordova-Palomera, Tooraj Mirshahi, Dorota Pasko, David J. Carey, Sahar Esmaeli, Adam J. Mansfield, Quanli Wang, Jeffrey S. Reid, Nilanjana Banerjee, Joshua D. Backman, Athanasios Kousathanas, Ashish Yadav, Mark J. Caulfield, Alison M. Meynert, Rouel Lanche, Jack A. Kosmicki, James F. Wilson, J. Brent Richards, Heiko Runz, Gonçalo R. Abecasis, Adam E. Locke, Justin W. Davis, Mark Lathrop, Alan R. Shuldiner, Lauren Gurski, J Kenneth Baillie, Michael N. Cantor, David Goldstein, John D. Overton, Kyoko Watanabe, Amanda O'Neill, Yunfeng Huang, Jonathan Marchini, Xiaodong Bai, Krzysztof Kiryluk, Slavé Petrovski, Sean O'Keeffe, Erika Kvikstad, Anthony Marcketta, Margaret M. Parker, Giorgio Sirugo, Julie E. Horowitz, Emily Wong, Olympe Chazara, Paul Nioi, Manuel A. R. Ferreira, Sándor Szalma, Joseph B. Leader, Shareef Khalid, William J Salerno, Deepika Sharma, Tomoko Nakanishi, Marcus B. Jones, Gundula Povysil, Marylyn D. Ritchie, Colm O'Dushlaine, Xiuwen Zheng, Daniel J. Rader, Suganthi Balasubramanian, Hyun Min Kang, Yi-Pin Lai, Alexander H. Li, Xing Chen, Erola Pairo-Castineira

المصدر: medRxiv

مصطلحات موضوعية: Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Genome-wide association study, medicine.disease_cause, Biobank, Article, Genetic association analysis, Immunology, Multiple comparisons problem, Medicine, business, Gene, Coronavirus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb20f488b451e561b83c6bfde2b243b5
https://doi.org/10.1101/2020.10.28.20221804

المؤلفون: Marylyn D. Ritchie, Colm O'Dushlaine, Aris Baras, Jeffrey D. Reid, Sofiya Milman, Alan R. Shuldiner, Patrick Sin-Chan, Dadong Li, Scott M. Damrauer, David J. Carey, David H. Ledbetter, Nir Barzilai, Cristopher V. Van Hout, David J. Glass, Anthony Marcketta, Nehal Gosalia, Aris N. Economides, Daniel J. Rader, Alexander H. Li, Bin Ye, John D. Overton, Chuan Gao

مصطلحات موضوعية: Genetics, Germline mutation, Cohort, Epigenetics, Biology, Exome, Gene, Exome sequencing, Ashkenazi jews, Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e0b9122e0fec6a5f78b11396b9011569
https://doi.org/10.1101/2020.07.19.188789

المؤلفون: Mary E. Dickinson, Shalini N. Jhangiani, Caraciolo J. Fernandes, Amber J. Lashua, Andres Hernandez-Garcia, Daryl A. Scott, Richard A. Gibbs, Kevin P. Lally, Chih-Wei Hsu, Bum Jun Kim, Tyler F. Beck, Eric Boerwinkle, Alexander H. Li, Peter Kundert, Tomasz Gambin, Donna M. Muzny, Ingrid S. Paine, Jaya Punetha, Molly Starkovich, James R. Lupski, Valerie K. Jordan, Xin Sun, Jennifer E. Posey

المصدر: Human Molecular Genetics. 27:2064-2075

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Diaphragmatic breathing, 030105 genetics & heredity, Biology, medicine.disease_cause, Epithelium, Mice, 03 medical and health sciences, Pregnancy, Genetics, medicine, Animals, Humans, Allele, Child, Molecular Biology, Fraser syndrome, Genetics (clinical), Mice, Knockout, Extracellular Matrix Proteins, Mutation, Infant, Newborn, Genetic disorder, Infant, Congenital diaphragmatic hernia, Receptors, Interleukin, Articles, General Medicine, medicine.disease, Diaphragm (structural system), 030104 developmental biology, Child, Preschool, FRAS1, Female, Hernias, Diaphragmatic, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747bfd5546df3336cd8ba15e087642b5
https://doi.org/10.1093/hmg/ddy110

المؤلفون: Hankyu Lee, John P. Soleas, Fabio Gava Aoki, David A. Romero, Ratna Varma, Siba Haykal, Alexander H. Li, Henrique Takachi Moriya, Golnaz Karoubi, Alba E. Marin-Araujo, Kayla Soon, Cristina H. Amon, Thomas K. Waddell

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Cell Survival, Swine, Population, Fluorescent Antibody Technique, lcsh:Medicine, Respiratory Mucosa, Regenerative Medicine, Article, Chondrocyte, 03 medical and health sciences, Chondrocytes, 0302 clinical medicine, Re-Epithelialization, Tissue engineering, medicine, Animals, Transplantation, Homologous, lcsh:Science, education, Mechanical Phenomena, Tracheal Epithelium, education.field_of_study, Multidisciplinary, Decellularization, Tissue Engineering, business.industry, Cartilage, lcsh:R, Allografts, Epithelium, Extracellular Matrix, Trachea, Transplantation, 030104 developmental biology, medicine.anatomical_structure, lcsh:Q, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::915be0214cb42471d189578a8e147734
https://doi.org/10.1038/s41598-019-48450-4

المؤلفون: Ida Surakka, Alexander Lopez, Lukas Habegger, Shareef Khalid, William J Salerno, Andrew Blumenfeld, Bin Ye, Jeffrey G. Reid, Ashutosh K. Pandey, Alicia Hawes, John D. Overton, Giovanni Coppola, Jonathan Marchini, Wendy K. Chung, David J. Carey, David H. Ledbetter, Kristian Hveem, Aris N. Economides, Cristopher V. Van Hout, Kavita Praveen, Cristen J. Willer, Joshua D. Backman, Anthony Marcketta, Ioanna Tachmazidou, Marcus B. Jones, O’Dushlaine Colm, John Penn, Joseph B. Leader, Leland Barnard, Daren Liu, George D. Yancopoulos, Michael N. Cantor, Suganthi Balasubramanian, Laura M. Yerges-Armstrong, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, John C. Whittaker, Nilanjana Banerjee, Aris Baras, Gonçalo R. Abecasis, Claudia Schurmann, Robert A. Scott, Evan Maxwell, Matthew R. Nelson, Jeffrey Staples, Ashish Yadav, Joshua D. Hoffman, Lon R. Cardon, Alexander H. Li

مصطلحات موضوعية: education.field_of_study, Genotype, Population, Disease, Computational biology, Biology, education, Exome, Gene, Biobank, Exome sequencing, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed87f8ff1c2cbdc9569dbaa5b001bd62
https://doi.org/10.1101/572347

المؤلفون: Shane McCarthy, Jonathan C. Cohen, Frederick E. Dewey, Claudia Schurmann, Matthew D. Still, Panayiotis Stevis, Xin Chu, Daniel J. Rader, David J. Carey, Alan R. Shuldiner, Noura S. Abul-Husn, Semanti Mukherjee, Jonathan S. Packer, Xiping Cheng, Ann Stepanchick, Brian Zambrowicz, Helen H. Hobbs, John Penn, Uyenlinh L. Mirshahi, Scott M. Damrauer, Ingrid B. Borecki, Yurong Xin, G. Craig Wood, Jesper Gromada, Suganthi Balasubramanian, Tanya M. Teslovich, Andrew J. Murphy, Erin D. Fuller, Christopher D. Still, Tooraj Mirshahi, Jonathan Z. Luo, John D. Overton, George D. Yancopoulos, Yashu Liu, Alexander H. Li, Aeron Small, Omri Gottesman, Julia Kozlitina, Jeffrey G. Reid, Stefan Stender, David Esopi, William C. Olson, Michael Feldman, Colm O'Dushlaine, Alexander E. Lopez, Nehal Gosalia, Sun Y. Kim, Aris Baras

المصدر: The New England journal of medicine. 378(12)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, 17-Hydroxysteroid Dehydrogenases, Genotype, Chronic liver disease, Gastroenterology, Article, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, Loss of Function Mutation, Internal medicine, Exome Sequencing, Medicine, Humans, Exome, Genetic Predisposition to Disease, Aspartate Aminotransferases, Exome sequencing, biology, business.industry, Sequence Analysis, RNA, Liver Diseases, Fatty liver, Genetic Variation, Alanine Transaminase, General Medicine, medicine.disease, Human genetics, Fatty Liver, 030104 developmental biology, Alanine transaminase, Liver, Chronic Disease, biology.protein, Disease Progression, Linear Models, 030211 gastroenterology & hepatology, Female, business, Biomarkers, TM6SF2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0407a88e3310d0086d130821947dae9f
https://pubmed.ncbi.nlm.nih.gov/30102780

المؤلفون: Joy Jayaseelan, Shen Gu, Philip M. Boone, Heather A. Dickerson, Lisa C.A. D'Alessandro, Shalini N. Jhangiani, Richard A. Gibbs, Eric Boerwinkle, Huyen Dinh, Nancy J. Hall, James F. Martin, Alexander H. Li, Charles D. Fraser, Donna M. Muzny, Mahshid Azamian, Susan D. Fernbach, Tomaz Gambin, Jianhong Hu, Zeynep H. Coban-Akdemir, Harshavardhan Doddapaneni, Jeffrey A. Towbin, Bo Yuan, John W. Belmont, Daniel J. Penny, Annarita Nicosia, Seema R. Lalani, Neil A. Hanchard, Stephanie M. Ware, James R. Lupski, Keila N. Lopez, Ender Karaca

المصدر: European journal of human genetics : EJHG. 27(4)

مصطلحات موضوعية: Heart Defects, Congenital, Male, Candidate gene, Embryonic Development, Genomics, Biology, Heterotaxy Syndrome, Article, GTP Phosphohydrolases, 03 medical and health sciences, Locus heterogeneity, Genetic model, Exome Sequencing, Genetics, medicine, Animals, Humans, Genetics (clinical), Exome sequencing, Genetic Association Studies, Zebrafish, Body Patterning, 0303 health sciences, Genome, Human, 030305 genetics & heredity, Zebrafish Proteins, medicine.disease, Phenotype, Genetic architecture, Human genetics, Peroxidases, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::223d530babeabc23f4819f822a741f8c
https://pubmed.ncbi.nlm.nih.gov/30622330

المؤلفون: Andres Hernandez-Garcia, Brendan Lee, Eric Boerwinkle, Tyler F. Beck, Shalini N. Jhangiani, Willie Reardon, Wojciech Wiszniewski, Daryl A. Scott, James R. Lupski, Reem Abo-Zahrah, Philippe M. Campeau, Richard A. Gibbs, Valerie K. Jordan, Tomasz Gambin, Donna M. Muzny, Alexander H. Li

المصدر: American Journal of Medical Genetics Part A. 167:831-836

مصطلحات موضوعية: musculoskeletal diseases, Genetics, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Congenital diaphragmatic hernia, Biology, medicine.disease, Frameshift mutation, Etiology, medicine, Ectopia lentis, Fibrillin, Exome, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e666e49c66889213e50d9ac615f82368
https://doi.org/10.1002/ajmg.a.36960

المؤلفون: Eric Boerwinkle, Xiaoming Liu, Richard A. Gibbs, L. Adrienne Cupples, Christie Kovar, Alexander H. Li, Jennifer A. Brody, Linda M. Polfus, Alanna C. Morrison, Donna M. Muzny, Ginger A. Metcalf, Thomas H. Mosley, Thomas Lumley, Narayanan Veeraraghavan, Bing Yu

المصدر: Nature Genetics. 47:640-642

مصطلحات موضوعية: Genome-wide association study, Disease, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Article, Gene Frequency, Risk Factors, Genetics, Humans, Exome, Genetic Predisposition to Disease, Risk factor, Allele frequency, Genetic Association Studies, Loss function, Exome sequencing, Genome, Human, Molecular Sequence Annotation, Atherosclerosis, Phenotype, Genetic Loci, Chronic Disease, Biomarker (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7efbfe5fa050cb6de35fe3b0a121a67
https://doi.org/10.1038/ng.3270

المؤلفون: Christina Austin-Tse, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noura S. Abul-Husn, Semanti Mukherjee, Samantha N. Fetterolf, Cristopher V. Van Hout, Monica A. Giovanni, Matthew S. Lebo, Omri Gottesman, Frederick E. Dewey, Thomas N. Person, Lukas Habegger, Korey A. Kost, Lance J. Adams, H. Lester Kirchner, James R. Elmore, Aris N. Economides, Christopher D. Still, Alexander H. Li, David J. Carey, Sarah A. Pendergrass, Anthony Marcketta, Jeffrey Staples, Marylyn D. Ritchie, Colm O'Dushlaine, Nehal Gosalia, Manoj Kanagaraj, William A. Faucett, John Penn, Raghu Metpally, Ingrid B. Borecki, Kavita Praveen, Jonathan S. Packer, Shannon Bruse, Andrew J. Murphy, Joseph B. Leader, Michael F. Murray, Suganthi Balasubramanian, Neil Stahl, Jeffrey G. Reid, David H. Ledbetter, Dustin N. Hartzel, Kimberly A. Skelding, F. Daniel Davis, Alexander Lopez, Aris Baras, George D. Yancopoulos, Scott Mellis, Robert H. Phillips, John D. Overton, Heather Mason-Suares, Lyndon J. Mitnaul, Daniel R. Lavage

المصدر: Science. 354

مصطلحات موضوعية: Adult, 0301 basic medicine, Disease, Familial hypercholesterolemia, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, INDEL Mutation, Genetic variation, Electronic Health Records, Humans, Medicine, Exome, Molecular Targeted Therapy, Risk factor, Allele frequency, Exome sequencing, Hypolipidemic Agents, Multidisciplinary, Delivery of Health Care, Integrated, business.industry, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, Precision medicine, medicine.disease, Lipids, 030104 developmental biology, Drug Design, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5e58c2628265e9244c34804e8f7c469
https://doi.org/10.1126/science.aaf6814

المؤلفون: Badri N. Vardarajan, Alexander H. Li, Eric Boerwinkle, Richard Mayeux

المصدر: Alzheimer's & Dementia. 12

مصطلحات موضوعية: Apolipoprotein E, Oncology, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Disease, Healthy elderly, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Internal medicine, medicine, Neurology (clinical), Geriatrics and Gerontology, business, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3165a11cd8828d875f6fb1cc53dbf6ce
https://doi.org/10.1016/j.jalz.2016.06.307

المؤلفون: Alexander H. Li, Simon D. M. White, Peng Wei, Andrew D. Johnson, Eric Boerwinkle, Xiaoming Liu, Robert J. Klein, Andrew Carroll, Jennifer A. Brody, Zhuoyi Huang, Richard A. Gibbs, Bo Peng

المصدر: Journal of medical genetics. 53(2)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Whole genome sequencing, Genome, Human, Molecular Sequence Annotation, Computational biology, Sequence Analysis, DNA, Biology, Cloud Computing, Pipeline (software), DNA sequencing, Article, 03 medical and health sciences, Annotation, 030104 developmental biology, Ensembl, Humans, Human genome, Indel, Genetics (clinical), Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0825f4f7a3e52b573307cb04d4d3b88c
https://pubmed.ncbi.nlm.nih.gov/26395054