학술논문
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'학술논문'
에서 검색결과 222건 | 목록
1~20
Academic Journal
Cheerie, David ; Meserve, Margaret M. ; Beijer, Danique ; Kaiwar, Charu ; Newton, Logan ; Taylor Tavares, Ana Lisa ; Verran, Aubrie Soucy ; Sherrill, Emma ; Leonard, Stefanie ; Sanders, Stephan J. ; Blake, Emily ; Elkhateeb, Nour ; Gandhi, Aastha ; Liang, Nicole S.Y. ; Morgan, Jack T. ; Verwillow, Anna ; Verheijen, Jan ; Giles, Andrew ; Williams, Sean ; Chopra, Maya ; Croft, Laura ; Dafsari, Hormos Salimi ; Davidson, Alice E. ; Friedman, Jennifer ; Gregor, Anne ; Haque, Bushra ; Lechner, Rosan ; Montgomery, Kylie-Ann ; Ryten, Mina ; Schober, Emil ; Siegel, Gabriele ; Sullivan, Patricia J. ; Whittle, Ella F. ; Zardetto, Bianca ; Yu, Timothy W. ; Synofzik, Matthis ; Aartsma-Rus, Annemieke ; Costain, Gregory ; Lauffer, Marlen C.
In The American Journal of Human Genetics 1 May 2025 112(5):975-983
Academic Journal
Szenker-Ravi, Emmanuelle ; Ott, Tim ; Yusof, Amirah ; Chopra, Maya ; Khatoo, Muznah ; Pak, Beatrice ; Xuan Goh, Wei ; Beckers, Anja ; Brady, Angela F. ; Ewans, Lisa J. ; Djaziri, Nabila ; Almontashiri, Naif A.M. ; Alghamdi, Malak Ali ; Alharby, Essa ; Dasouki, Majed ; Romo, Lindsay ; Tan, Wen-Hann ; Maddirevula, Sateesh ; Alkuraya, Fowzan S. ; Giordano, Jessica L. ; Alkelai, Anna ; Wapner, Ronald J. ; Stals, Karen ; Alfadhel, Majid ; Alswaid, Abdulrahman Faiz ; Bogusch, Susanne ; Schafer-Kosulya, Anna ; Vogel, Sebastian ; Vick, Philipp ; Schweickert, Axel ; Wakeling, Matthew ; Moreau de Bellaing, Anne ; Alshamsi, Aisha M. ; Sanlaville, Damien ; Mbarek, Hamdi ; Saad, Chadi ; Ellard, Sian ; Eisenhaber, Frank ; Tripolszki, Kornelia ; Beetz, Christian ; Bauer, Peter ; Gossler, Achim ; Eisenhaber, Birgit ; Blum, Martin ; Bouvagnet, Patrice ; Bertoli-Avella, Aida ; Amiel, Jeanne ; Gordon, Christopher T. ; Reversade, Bruno
In The American Journal of Human Genetics 6 February 2025 112(2):353-373
Academic Journal
Broeren, Eleanor C. ; Gitau, Vanessa N. ; Byrne, Alicia B. ; Ajuyah, Pamela ; Balzotti, Marie B. ; Berg, Jonathan S. ; Bluske, Krista ; Bowen, B. Monica ; Brown, Matthew P. ; Buchanan, Amanda ; Burns, Brendan T. ; Burns, Nicole J. ; Chandrasekhar, Anjana ; Chawla, Aditi ; Chong, Jessica X. ; Chopra, Maya ; Clause, Amanda R. ; DiStefano, Marina T. ; DiTroia, Stephanie ; Elnagheeb, Marwa A. ; Girod, Amanda N. ; Goel, Himanshu ; Golden-Grant, Katie L. ; Ha, Thuong ; Hamosh, Ada ; Huang, Jennifer M. ; Hughes, Madeline Y. ; Jamuar, Saumya S. ; Kam, Sylvia ; Kesari, Akanchha ; Koh, Ai Ling ; Lassiter, Rhonda N.T. ; Leigh, Sarah E. ; Lemire, Gabrielle ; Lim, Jiin Ying ; Malhotra, Alka ; McCurry, Hannah R. ; Milewski, Becky ; Moosa, Shahida ; Murray, Stephen A. ; Owens, Emma H. ; Palmer, Elizabeth E. ; Palus, Brooke C. ; Patel, Mayher J. ; Rajkumar, Revathi ; Ratliff, Julie C. ; Raymond, F. Lucy ; Della Ripa Rodrigues Assis, Bruno ; Sajan, Samin A. ; Schlachetzki, Zinayida ; Schmidt, Sarah A. ; Stark, Zornitza ; Strom, Samuel P. ; Taylor, Julie P. ; Thaxton, Courtney ; Thrush, Devon L. ; Toro, Sabrina ; Tshering, Kezang C. ; Vasilevsky, Nicole A. ; Wayburn, Bess ; Webb, Ryan F. ; O’Donnell-Luria, Anne ; Coffey, Alison J.
In Genetics in Medicine Open 2025 3
Academic Journal
Gropman, A.; Smith-Hicks, C.L.; Neul, J.; Agosto, J.A. Martinez; German, K.; Izumi, K.; Abbeduto, L.; Dawalt, L.; Wangler, M.; Wasserstein, M.; Storch, Eric A.; Cohen, J.S.; Samaco, R.; Molholm, S.; Shankar, S.; Srivastava, S.; Walkley, S.; Sveden, A.; Dies, K.; Gupta, Aditi; Oh, Inez; Hauck, Rachel; Chopra, Maya ; Savatt, Juliann M. ; Bingaman, Taylor I. ; Good, Molly E. ; Morgan, Alexis ; Cooney, Caitlin ; Rossel, Allison M. ; VanHoute, Bryanna ; Cordova, Ineke ; Mahida, Sonal ; Lanzotti, Virginia ; Baldridge, Dustin ; Gurnett, Christina A. ; Piven, Joseph ; Hazlett, Heather ; Pomeroy, Scott L. ; Sahin, Mustafa ; Payne, Philip R.O. ; Riggs, Erin Rooney ; Constantino, John N.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Cronin, Robert M. ; Wuichet, Kristin ; Ghafuri, Djamila L ; Hodges, Brock ; Chopra, Maya ; He, Jing ; Niu, Xinnan ; Kassim, Adetola A. ; Wilkerson, Karina ; Rodeghier, Mark ; DeBaun, Michael R.
In Blood Advances 8 August 2023 7(15):3775-3782
Academic Journal
Chopra, Maya ; Modi, Meera E. ; Dies, Kira A. ; Chamberlin, Nancy L. ; Buttermore, Elizabeth D. ; Brewster, Stephanie Jo ; Prock, Lisa ; Sahin, Mustafa
In Molecular Therapy - Methods & Clinical Development 8 December 2022 27:32-46
Academic Journal
Kim, Beom Soo ; Chan, Nicholas ; Hsu, Greg ; Makaryus, Amgad N. ; Chopra, Maya ; Cohen, Stuart L. ; Makaryus, John N.
In The American Journal of Cardiology 15 June 2021 149:16-20
Academic Journal
Lee, Eric ; Le, Trang ; Zhu, Ying ; Elakis, George ; Turner, Anne ; Lo, William ; Venselaar, Hanka ; Verrenkamp, Carol-Ann ; Snow, Nicole ; Mowat, David ; Kirk, Edwin Philip ; Sachdev, Rani ; Smith, Janine ; Brown, Natasha Jane ; Wallis, Mathew ; Barnett, Chris ; McKenzie, Fiona ; Freckmann, Mary-Louise ; Collins, Felicity ; Chopra, Maya ; Gregersen, Nerine ; Hayes, Ian ; Rajagopalan, Sulekha ; Tan, Tiong Yang ; Stark, Zornitza ; Savarirayan, Ravi ; Yeung, Alison ; Adès, Lesley ; Gattas, Michael ; Gibson, Kate ; Gabbett, Michael ; Amor, David John ; Lattanzi, Wanda ; Boyd, Simeon ; Haan, Eric ; Gianoutsos, Mark ; Cox, Timothy Chilton ; Buckley, Michael Francis ; Roscioli, Tony
In Genetics in Medicine September 2018 20(9):1061-1068
Academic Journal
Chopra, Maya; Hsieh, Ji-Cheng; Mueller, William; Braunstein, Eric D.; Beldner, Stuart; Mitra, Raman L.; Epstein, Laurence M.; Willner, Jonathan; Gabriels, James K.
Journal of Interventional Cardiac Electrophysiology; Nov2025, Vol. 68 Issue 8, p1585-1592, 8p
Academic Journal
Callahan, Nora C.; Mahida, Sonal; Sveden, Abigail; Quinn, Meg; Chopra, Maya; Srivastava, Siddharth; Wasserstein, M.; Chopra, M.; Sahin, M.; Wangler, M.; Schultz, B.; Izumi, K.; Gropman, A.; Smith‐Hicks, C.; Abbeduto, L.; Hazlett, H.; German, K.; DaWalt, L.; Neul, J.; Constantino, J.
Academic Journal
Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Lovgren, Alysia Kern; O'Leary, Melanie; Chopra, Maya; Ojeda, Naomi Meave; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome
Academic Journal
In Genetics in Medicine Open 2025 3 Supplement 2
Academic Journal
Bayraktutan, Muhammed Cagri ; Sveden, Abigail ; Belanger, Raymond ; Hanson, Ellen ; Murray, Jack ; Yang, Edward ; Cameron, Jada ; Buttermore, Elizabeth ; Gable, Dustin ; Winden, Kellen ; Tam, Celia ; Prakash, Vikram ; Trujillano, Laura ; Goel, Himanshu ; Lippe, Charlotte von der ; Shillington, Amelle ; Herenger, Yvan ; Zuccarelli, Britton ; Rosetti, Linda ; Engleman, Kendra ; Tkemaladze, Tinatin ; Maiwald, Robert ; Aranzasti, Amaia Lasa ; Barnett, Christopher ; Tartaglia, Marco ; Lalani, Seema ; Tan, Wen-Hann ; Amiel, Jeanne ; Gordon, Christopher ; Sahin, Mustafa ; Chopra, Maya
In Genetics in Medicine Open 2025 3 Supplement 2
Academic Journal
Cardamone, Michael ; Flanagan, Danny ; Mowat, David ; Kennedy, Sean E. ; Chopra, Maya ; Lawson, John A.
In The Journal of Pediatrics May 2014 164(5):1195-1200
Academic Journal
In Blood Advances 23 August 2022 6(16):4831-4833
Academic Journal
Tessadori, Federico ; Duran, Karen ; Knapp, Karen ; Fellner, Matthias ; Smithson, Sarah ; Beleza Meireles, Ana ; Elting, Mariet W. ; Waisfisz, Quinten ; O’Donnell-Luria, Anne ; Nowak, Catherine ; Douglas, Jessica ; Ronan, Anne ; Brunet, Theresa ; Kotzaeridou, Urania ; Svihovec, Shayna ; Saenz, Margarita S. ; Thiffault, Isabelle ; Del Viso, Florencia ; Devine, Patrick ; Rego, Shannon ; Tenney, Jessica ; van Haeringen, Arie ; Ruivenkamp, Claudia A.L. ; Koene, Saskia ; Robertson, Stephen P. ; Deshpande, Charulata ; Pfundt, Rolph ; Verbeek, Nienke ; van de Kamp, Jiddeke M. ; Weiss, Janneke M.M. ; Ruiz, Anna ; Gabau, Elisabeth ; Banne, Ehud ; Pepler, Alexander ; Bottani, Armand ; Laurent, Sacha ; Guipponi, Michel ; Bijlsma, Emilia ; Bruel, Ange-Line ; Sorlin, Arthur ; Willis, Mary ; Powis, Zoe ; Smol, Thomas ; Vincent-Delorme, Catherine ; Baralle, Diana ; Colin, Estelle ; Revencu, Nicole ; Calpena, Eduardo ; Wilkie, Andrew O.M. ; Chopra, Maya ; Cormier-Daire, Valerie ; Keren, Boris ; Afenjar, Alexandra ; Niceta, Marcello ; Terracciano, Alessandra ; Specchio, Nicola ; Tartaglia, Marco ; Rio, Marlene ; Barcia, Giulia ; Rondeau, Sophie ; Colson, Cindy ; Bakkers, Jeroen ; Mace, Peter D. ; Bicknell, Louise S. ; van Haaften, Gijs
In The American Journal of Human Genetics 7 April 2022 109(4):750-758
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.
Academic Journal
Lewis, Sara A.; Chopra, Maya; Cohen, Julie S.; Bain, Jennifer M.; Aravamuthan, Bhooma; Carmel, Jason B.; Fahey, Michael C.; Segel, Reeval; Wintle, Richard F.; Zech, Michael; May, Halie; Haque, Nahla; Fehlings, Darcy; Srivastava, Siddharth; Kruer, Michael C.
JAMA Pediatrics; Feb2025, Vol. 179 Issue 2, p137-144, 8p
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Academic Journal
French, Courtney E.; Andrews, Nancy C.; Beggs, Alan H.; Boone, Philip M.; Brownstein, Catherine A.; Chopra, Maya; Chou, Janet; Chung, Wendy K.; D'Gama, Alissa M.; Doan, Ryan N.; Ebrahimi-Fakhari, Darius; Goldstein, Richard D.; Irons, Mira; Jacobsen, Christina; Kenna, Margaret; Lee, Ted; Madden, Jill A.; Majmundar, Amar J.; Mann, Nina; Morton, Sarah U.
NPJ Genomic Medicine; 12/2/2024, Vol. 9 Issue 1, p1-11, 11p
Academic Journal
Chopra, Maya ; McEntagart, Meriel ; Clayton-Smith, Jill ; Platzer, Konrad ; Shukla, Anju ; Girisha, Katta M. ; Kaur, Anupriya ; Kaur, Parneet ; Pfundt, Rolph ; Veenstra-Knol, Hermine ; Mancini, Grazia M.S. ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Kortüm, Fanny ; Hempel, Maja ; Denecke, Jonas ; Lehman, Anna ; Kleefstra, Tjitske ; Stuurman, Kyra E. ; Wilke, Martina ; Thompson, Michelle L. ; Bebin, E. Martina ; Bijlsma, Emilia K. ; Hoffer, Mariette J.V. ; Peeters-Scholte, Cacha ; Slavotinek, Anne ; Weiss, William A. ; Yip, Tiffany ; Hodoglugil, Ugur ; Whittle, Amy ; diMonda, Janette ; Neira, Juanita ; Yang, Sandra ; Kirby, Amelia ; Pinz, Hailey ; Lechner, Rosan ; Sleutels, Frank ; Helbig, Ingo ; McKeown, Sarah ; Helbig, Katherine ; Willaert, Rebecca ; Juusola, Jane ; Semotok, Jennifer ; Hadonou, Medard ; Short, John ; Yachelevich, Naomi ; Lala, Sajel ; Fernández-Jaen, Alberto ; Pelayo, Janvier Porta ; Klöckner, Chiara ; Kamphausen, Susanne B. ; Abou Jamra, Rami ; Arelin, Maria ; Innes, A. Micheil ; Niskakoski, Anni ; Amin, Sam ; Williams, Maggie ; Evans, Julie ; Smithson, Sarah ; Smedley, Damian ; de Burca, Anna ; Kini, Usha ; Delatycki, Martin B. ; Gallacher, Lyndon ; Yeung, Alison ; Pais, Lynn ; Field, Michael ; Martin, Ellenore ; Charles, Perrine ; Courtin, Thomas ; Keren, Boris ; Iascone, Maria ; Cereda, Anna ; Poke, Gemma ; Abadie, Véronique ; Chalouhi, Christel ; Parthasarathy, Padmini ; Halliday, Benjamin J. ; Robertson, Stephen P. ; Lyonnet, Stanislas ; Amiel, Jeanne ; Gordon, Christopher T.
In The American Journal of Human Genetics 3 June 2021 108(6):1138-1150
Academic Journal
Srivastava, Siddharth; Cole, Jordan J.; Cohen, Julie S.; Chopra, Maya; Smith, Hadley Stevens; Deardorff, Matthew A.; Pedapati, Ernest; Corner, Brian; Anixt, Julia S.; Jeste, Shafali; Sahin, Mustafa; Gurnett, Christina A.; Campbell, Colleen A.
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