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1دورية أكاديمية
المؤلفون: Marchant, Rhett G., Bryen, Samantha J., Bahlo, Melanie, Cairns, Anita, Chao, Katherine R., Corbett, Alastair, Davis, Mark R., Ganesh, Vijay S., Ghaoui, Roula, Jones, Kristi J., Kornberg, Andrew J., Lek, Monkol, Liang, Christina, MacArthur, Daniel G., Oates, Emily C., O'Donnell‐Luria, Anne, O'Grady, Gina L., Osei‐Owusu, Ikeoluwa A., Rafehi, Haloom, Reddel, Stephen W., Roxburgh, Richard H., Ryan, Monique M., Sandaradura, Sarah A., Scott, Liam W., Valkanas, Elise, Weisburd, Ben, Young, Helen, Evesson, Frances J., Waddell, Leigh B., Cooper, Sandra T.
المساهمون: National Human Genome Research Institute, National Health and Medical Research Council, National Eye Institute
المصدر: Annals of Clinical and Translational Neurology ; ISSN 2328-9503 2328-9503
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2دورية أكاديمية
المؤلفون: Austin-Tse, Christina, DiTroia, Stephanie, O'Leary, Melanie, VanNoy, Grace, Mangilog, Brian, Shah, Gulalai, Martinez, Eva, Serrano, Jillian, Pais, Lynn, O'Heir, Emily, Osei-Owusu, Ikeoluwa, Lemire, Gabrielle, Ganesh, Vijay, Stenton, Sarah, Amin, Mutaz, Socarras, Kayla, Singh, Mugdha, Hall, Stacey, Larsson, Katie, Singer-Berk, Moriel, Marten, Daniel, Wilson, Michael, Snow, Hana, Blankenmeister, Benjamin, Ma, Jialan, Weisburd, Ben, Sanchis-Juan, Alba, Brand, Harrison, Groopman, Emily, Lovgren, Alysia, Williamson, Clara, Hollyer, Marissa, England, Eleina, Seaby, Eleanor, Chao, Katherine, Goodrich, Julia, Baxter, Samantha, MacArthur, Daniel, Talkowski, Michael, Wojcik, Monica, O'Donnell-Luria, Anne, Rehm, Heidi
المصدر: Genetics in Medicine Open ; volume 2, page 101481 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101481Test
https://api.elsevier.com/content/article/PII:S2949774424006277?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424006277?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Koop, Klaas, Yuan, Weimin, Tessadori, Federico, Rodriguez-Polanco, Wilmer R, Grubbs, Jeremy, Zhang, Bo, Osmond, Matt, Graham, Gail, Sawyer, Sarah, Conboy, Erin, Vetrini, Francesco, Treat, Kayla, Płoski, Rafal, Pienkowski, Victor Murcia, Kłosowska, Anna, Fieg, Elizabeth, Krier, Joel, Mallebranche, Coralie, Alban, Ziegler, Aldinger, Kimberly A, Ritter, Deborah, Macnamara, Ellen, Sullivan, Bonnie, Herriges, John, Alaimo, Joseph T, Helbig, Catherine, Ellis, Colin A, Eyk, Clare, Gecz, Jozef, Farrugia, Daniel, Osei-Owusu, Ikeoluwa, Adès, Lesley, Boogaard, Marie-Jose, Fuchs, Sabine, Bakker, Jeroen, Duran, Karen, Dawson, Zachary D, Lindsey, Anika, Huang, Huiyan, Baldridge, Dustin, Silverman, Gary A, Grant, Barth D, Raizen, David, Network, Undiagnosed Diseases, Haaften, Gijs, Pak, Stephen C, Rehmann, Holger, Schedl, Tim, van Hasselt, Peter
المساهمون: Metabole ziekten patientenzorg, Cancer, Genetica Groep Van Haaften, Child Health, Infection & Immunity
مصطلحات موضوعية: Genetics(clinical), Genetics, Molecular Biology, Journal Article
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Stenton, Sarah L., O’Leary, Melanie C., Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O’Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W., Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O. B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L., O’Donnell-Luria, Anne
المساهمون: Stenton, Sarah L., O’Leary, Melanie C., Lemire, Gabrielle, Vannoy, Grace E., Ditroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O’Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W., Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O. B., Joseph, Thoma, Kamandula, Akash, Katsonis, Panagioti, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vika, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L., O’Donnell-Luria, Anne
مصطلحات موضوعية: Best practice, Genome interpretation, Genome sequencing, Rare disease, Variant prioritization
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001209827000001; volume:18; issue:1; journal:HUMAN GENOMICS; https://hdl.handle.net/11388/328389Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85191869582
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5تقرير
المؤلفون: Stenton, Sarah L., O'Leary, Melanie, Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O'Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael, Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza Th., Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O.B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L., O'Donnell-Luria, Anne�
المساهمون: Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division, Computer Science Program, Computational Bioscience Research Center (CBRC), Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia
وصف الملف: application/pdf; application/zip
العلاقة: Stenton, S. L., O’Leary, M., Lemire, G., VanNoy, G. E., DiTroia, S., Ganesh, V. S., Groopman, E., O’Heir, E., Mangilog, B., Osei-Owusu, I., Pais, L. S., Serrano, J., Singer-Berk, M., Weisburd, B., Wilson, M., Austin-Tse, C., Abdelhakim, M., Althagafi, A., Babbi, G., … O’Donnell-Luria, A. (2023). Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. https://doi.org/10.1101/2023.08.02.23293212Test; http://hdl.handle.net/10754/693499Test
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6دورية أكاديمية
المؤلفون: Riggs, Erin Rooney, Bingaman, Taylor I, Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R, Dharmadhikari, Avinash V, Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R, Hughes, Madeline Y, Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka Zola, Aimé, Mah, Michelle, Maloney, Caitlin M, Mohan, Shruthi, Osei-Owusu, Ikeoluwa A, Reble, Emma, Rennie, Olivia, Savatt, Juliann M, Shimelis, Hermela, Siegert, Rebecca K, Sneddon, Tam P, Thaxton, Courtney, Toner, Kelly A, Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H, Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A S, Miller, David T, Schaaf, Christian P
المصدر: Genetics in Medicine (2022-05-25)
مصطلحات موضوعية: Autism, ClinGen, Gene–disease validity, Intellectual disability, Neurodevelopmental disorders, Genetics (clinical), Life sciences, Genetics & genetic processes, Human health sciences, Laboratory medicine & medical technology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Médecine de laboratoire & technologie médicale
العلاقة: https://api.elsevier.com/content/article/PII:S1098360022007560?httpAccept=text/xmlTest; urn:issn:1098-3600; urn:issn:1530-0366
الوصول الحر: https://orbi.uliege.be/handle/2268/292913Test
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7دورية أكاديمية
المؤلفون: Wojcik, Monica H, Lemire, Gabrielle, Berger, Eva, Zaki, Maha S, Wissmann, Mariel, Win, Wathone, White, Susan M, Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal F, Merkenschlager, Andreas, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gburek-Augustat, Janina, Gazda, Hanna T, Ganesh, Vijay S, Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bönnemann, Carsten G, Beggs, Alan H, Baxter, Samantha M, Bartolomaeus, Tobias, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L, O'Donnell-Luria, Anne
المصدر: N Engl J Med ; ISSN:1533-4406 ; Volume:390 ; Issue:21
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8دورية أكاديمية
المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O'Heir, Emily, Ganesh, Vijay S, Wojcik, Monica H, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L, Neil, Jennifer E, Shao, Diane D, Walsh, Christopher A, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H, Gleeson, Joseph G, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G, Madden, Jill A, Genetti, Casie A, Beggs, Alan H, Agrawal, Pankaj B, Bujakowska, Kinga M, Place, Emily, Pierce, Eric A, Donkervoort, Sandra, Bönnemann, Carsten G, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M, Töpf, Ana, Straub, Volker, Fleming, Mark D, Pollak, Martin R, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G, MacArthur, Daniel G, Rehm, Heidi L, Talkowski, Michael E, Brand, Harrison, O'Donnell-Luria, Anne
المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:111 ; Issue:5
مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification
العلاقة: https://doi.org/10.1016/j.ajhg.2024.03.008Test; https://pubmed.ncbi.nlm.nih.gov/38565148Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/
الإتاحة: https://doi.org/10.1016/j.ajhg.2024.03.008Test
https://pubmed.ncbi.nlm.nih.gov/38565148Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/ -
9دورية أكاديمية
المؤلفون: Brooks, Daniel, Burke, Elizabeth, Lee, Sukyeong, Eble, Tanya N., O'Leary, Melanie, Osei-Owusu, Ikeoluwa, Rehm, Heidi L., Dhar, Shweta U., Emrick, Lisa, Bick, David, Nehrebecky, Michelle, Macnamara, Ellen, Casas-Alba, Dídac, Armstrong, Judith, Prat, Carolina, Martínez-Monseny, Antonio F., Palau, Francesc, Liu, Pengfei, Adams, David, Lalani, Seema
المصدر: Human Genetics; Mar2024, Vol. 143 Issue 3, p279-291, 13p
مصطلحات موضوعية: SENSORINEURAL hearing loss, GENETIC variation, ECTODERMAL dysplasia, CRANIOSYNOSTOSES, MITOGEN-activated protein kinases, LEUCINE zippers
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10كتاب
المؤلفون: Breman, Amy, Brigatti, Karlla Welch, Chahrour, Maria, Della Gatta, Giusy, Erlanger Avigdor, Bracha, El Hayek, Lauretta, Gonzaga-Jauregui, Claudia, Kousi, Maria, Osei-Owusu, Ikeoluwa A., Pevsner, Jonathan, Posey, Jennifer E., Puffenberger, Erik G., Stankiewicz, Paweł, Van Hout, Cristopher V., Zepeda Mendoza, Cinthya J.
المصدر: Genomics of Rare Diseases ; page xiii-xiv
الإتاحة: https://doi.org/10.1016/b978-0-12-820140-4.00021-1Test
https://api.elsevier.com/content/article/PII:B9780128201404000211?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128201404000211?httpAccept=text/plainTest
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