학술논문
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'학술논문'
에서 검색결과 319건 | 목록
1~20
Academic Journal
Cope, Heidi L.; Jalazo, Elizabeth R.; Berg, Jonathan S.; Sullivan, Jennifer A.; Kucera, Katerina S.; Shone, Scott M.; Frawley, Hannah E.; Gwaltney, Angela Y.; Forsythe, Ana N.; Migliore, Brooke A.; Wright, Becca; Moultrie, Rebecca R.; Milko, Laura V.; Zimmerman, Rebekah S.; Kruszka, Paul; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Monaghan, Kristin G.; Kraczkowski, Christina; Guenzel, Adam J.; McWalter, Kirsty; Hruska, Kathleen S.; Bailey, Jr, Donald B.; Wheeler, Anne C.; Raspa, Melissa; Powell, Cynthia M.; Peay, Holly L.
Nature Medicine. 31(11):3762-3771
Academic Journal
Küry, Sébastien; Stanton, Janelle E.; van Woerden, Geeske M.; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J.; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M.; Thiel, Franziska G.; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M.; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A.; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G.; Mullegama, Sureni V.; Volker-Touw, Catharina M. L. Nienke; van Gassen, Koen L. I.; Oegema, Renske; de Pagter, Mirjam S.; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V.; Bernier, Raphael A.; Turner, Tychele N.; Srivastava, Siddharth; Dies, Kira A.; Swanson, Lindsay C.; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K.; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B.; Malicdan, May Christine V.; Adams, David R.; Wolfe, Lynne; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T.; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, MJ; Costain, Gregory; Prendergast, D’Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J.; Bryson, Lisa J.; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L.; Cueto-González, Anna M.; Tizzano, Eduardo F.; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J.; McRae, Anne M.; Lessard, Mathieu K.; D’Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B.; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L.; Schroeder, Molly C.; Gooch, Catherine; Smith, Raphael A.; Pandya, Arti; Busch, Larissa M.; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W.; Eichler, Evan E.; McWalter, Kirsty; Krawitz, Peter M.; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M.; Bolduc, Francois V.; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke
Nature Communications. 16(1)
Academic Journal
Dardas, Zain; Harrold, Laura; Calame, Daniel G.; Salter, Claire G.; Kikuma, Takashi; Guay, Kevin P.; Ng, Bobby G.; Sano, Kanae; Saad, Ahmad K.; Du, Haowei; Sangermano, Riccardo; Patankar, Sohil G.; Jhangiani, Shalini N.; Gursoy, Semra; Abdel-Hamid, Mohamed S.; Ahmed, Mahmoud K.H.; Maroofian, Reza; Kaiyrzhanov, Rauan; Salayev, Kamran; Jones, Wendy D.; Caballero, Ana Perez; McGavin, Lucy; Spiller, Michael; Durkie, Miranda; Wood, Nick; O'Grady, Lauren; Goldenberg, Paula; Neumeyer, Ann M.; Begtrup, Amber; Abdel-Ghafar, Sherif F.; Zaki, Maha S.; Van Esch, Hilde; Posey, Jennifer E.; Wenger, Olivia K.; Scott, Ethan M.; Bujakowska, Kinga M.; Gibbs, Richard A.; Pehlivan, Davut; Marafi, Dana; Leslie, Joseph S.; Ubeyratna, Nishanka; Day, Jacob; Owens, Martina; Settle, Jessica; Balkhy, Soher; Tamim, Abdullah; Alabdi, Lama; Alkuraya, Fowzan S.; Takeda, Yoichi; Freeze, Hudson H.; Hebert, Daniel N.; Lupski, James R.; Crosby, Andrew H.; Baple, Emma L.
Am J Hum Genet
Academic Journal
Kubisch, Christian; Cogne, Benjamin; Rabin, Rachel; Kessler, Elena; Chappé, Céline; Brugger, Melanie; Jorge, Alexander A.L.; Short, John; Posey, Jennifer E.; Szakszon, Katalin; Bedeschi, Maria Francesca; Yuan, Bo; Brunet, Theresa; Chong, Hey J.; Poths, Karin; Josifova, Dragana; Maeding, Nicole; Sidlow, Richard; Nevay, Dayna-Lynn; Mehta, Lakshmi; Gangi, Silvana; Pappas, John; Cope, Heidi; Schrauwen, Isabelle; Hüning, Irina; Banka, Siddharth; Powell-Hamilton, Nina; Lyon, Gholson J.; Wieczorek, Dagmar; Leal, Suzanne M.; Courtin, Thomas; Fernandes, Erica; Harasink, Sue Moyer; Kamsteeg, Erik-Jan; Afenjar, Alexandra; Tan, Queenie K.G.; Marchi, Elaine; Brick, Lauren; Cardenas, Paul; Deb, Wallid; Wagner, Matias; Sullivan, Jennifer; Begtrup, Amber; Platzer, Konrad; Lessel, Davor; Oegema, Renske; Mancardi, Margherita; Kölbel, Heike; Haack, Tobias B.; Kuechler, Alma; Capra, Valeria; Fitzgerald, Kristi K.; Baresic, Anja; Chinn, Ivan K.; Rezende, Raissa C.; Odent, Sylvie; Kozenko, Mariya; Morel, Chantal F.; Network, Undiagnosed Diseases; Tolosa, Eva; Dubourg, Christèle; Sebastian, Jessica; Keren, Boris; Robert, Leema; Goenka, Anu; Lessel, Ivana; Jin, Jay J.; Gucsavas-Calikoglu, Muge; Chandler, Kate E.; Scala, Marcello; Rekab, Aisha; Madan-Khetarpal, Suneeta; Perilla-Young, Yezmin; Leppälä, Juha; de la Calle-Martín, Oscar; Conboy, Erin; Isidor, Bertrand; George-Abraham, Jaya K.; Järvelä, Irma; May, Jonathan; Dilena, Robertino; Averdunk, Luisa; Luu, Sharon M.; Hanker, Britta; Pastore, Matthew T.; Strunk, Dirk; Nigro, Vincenzo; Elgizouli, Magdeldin; Iascone, Maria; Menendez, Beatriz; Kalinauskiene, Ruta; Besnard, Thomas; Byrne, Susan; Romano, Ferruccio; Lupski, James R.; Brager, Rae; Hadonou, Medard
Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
Academic Journal
Tan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andrée; Peters, Sophia; Perne, Claudia; Kreiß, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui
Molecular Psychiatry. 30(5):1952-1965
Academic Journal
Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Soler, Nicole Pimentel; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.
Obstetrical & Gynecological Survey. Jul 01, 2025 80(7):406-408
Academic Journal
Rowe, Leah; Mullegama, Sureni V.; Lombardo, Rachel; Barnes, Caitlin; Towner, Shelley; Snyder, Matthew T.; Heidlebaugh, Alexis; Riordan, Heather; Begtrup, Amber; Crunk, Amy; Cui, Hong; Dameron, Amy E.; Folk, Leandra; Guillen Sacoto, Maria J.; Juusola, Jane; Redlich, Olivia L.; Reich, Adi; McGivern, Bobbi
Human Genetics and Genomics Advances. 6(2)
Academic Journal
Calame, Daniel G. ; Wong, Jovi Huixin ; Panda, Puravi ; Nguyen, Dat Tuan ; Leong, Nancy C.P. ; Sangermano, Riccardo ; Patankar, Sohil G. ; Abdel-Hamid, Mohamed S. ; AlAbdi, Lama ; Safwat, Sylvia ; Flannery, Kyle P. ; Dardas, Zain ; Fatih, Jawid M. ; Murali, Chaya ; Kannan, Varun ; Lotze, Timothy E. ; Herman, Isabella ; Ammouri, Farah ; Rezich, Brianna ; Efthymiou, Stephanie ; Alavi, Shahryar ; Murphy, David ; Firoozfar, Zahra ; Nasab, Mahya Ebrahimi ; Bahreini, Amir ; Ghasemi, Majid ; Haridy, Nourelhoda A. ; Goldouzi, Hamid Reza ; Eghbal, Fatemeh ; Karimiani, Ehsan Ghayoor ; Begtrup, Amber ; Elloumi, Houda ; Srinivasan, Varunvenkat M. ; Gowda, Vykuntaraju K. ; Du, Haowei ; Jhangiani, Shalini N. ; Coban-Akdemir, Zeynep ; Marafi, Dana ; Rodan, Lance ; Isikay, Sedat ; Rosenfeld, Jill A. ; Ramanathan, Subhadra ; Staton, Michael ; Oberg, Kerby C. ; Clark, Robin D. ; Wenman, Catharina ; Loughlin, Sam ; Saad, Ramy ; Ashraf, Tazeen ; Male, Alison ; Tadros, Shereen ; Boostani, Reza ; Abdel-Salam, Ghada M.H. ; Zaki, Maha ; Mardi, Ali ; Hashemi-Gorji, Farzad ; Abdalla, Ebtesam ; Manzini, M. Chiara ; Pehlivan, Davut ; Posey, Jennifer E. ; Gibbs, Richard A. ; Houlden, Henry ; Alkuraya, Fowzan S. ; Bujakowska, Kinga ; Maroofian, Reza ; Lupski, James R. ; Nguyen, Long N.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Cope, Heidi L. ; Milko, Laura V. ; Jalazo, Elizabeth R. ; Crissman, Blythe G. ; Foreman, Ann Katherine M. ; Powell, Bradford C. ; deJong, Neal A. ; Hunter, Jessica Ezzell ; Boyea, Beth Lincoln ; Forsythe, Ana N. ; Wheeler, Anne C. ; Zimmerman, Rebekah S. ; Suchy, Sharon F. ; Begtrup, Amber ; Langley, Katherine G. ; Monaghan, Kristin G. ; Kraczkowski, Christina ; Hruska, Kathleen S. ; Kruszka, Paul ; Kucera, Katerina S. ; Berg, Jonathan S. ; Powell, Cynthia M. ; Peay, Holly L.
In Genetics in Medicine December 2024 26(12)
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Academic Journal
Jain, Vani; Foo, Seow Hoong; Chooi, Stephen; Moss, Celia; Goodwin, Richard; Berland, Siren; Clarke, Angus J.; Davies, Sally J.; Corrin, Sian; Murch, Oliver; Doyle, Samantha; Graham, Gail E.; Greenhalgh, Lynn; Holder, Susan E.; Johnson, Diana; Kumar, Ajith; Ladda, Roger L.; Sell, Susan; Begtrup, Amber; Lynch, Sally A.; McCann, Emma; Østern, Rune; Pottinger, Caroline; Splitt, Miranda; Fry, Andrew E.
European Journal of Human Genetics. 31(12):1421-1429
Academic Journal
Cali, Elisa ; Quirin, Tania ; Rocca, Clarissa ; Efthymiou, Stephanie ; Riva, Antonella ; Marafi, Dana ; Zaki, Maha S. ; Suri, Mohnish ; Dominguez, Roberto ; Elbendary, Hasnaa M. ; Alavi, Shahryar ; Abdel-Hamid, Mohamed S. ; Morsy, Heba ; Mau-Them, Frederic Tran ; Nizon, Mathilde ; Tesner, Pavel ; Ryba, Lukáš ; Zafar, Faisal ; Rana, Nuzhat ; Saadi, Nebal W. ; Firoozfar, Zahra ; Gencpinar, Pinar ; Unay, Bulent ; Ustun, Canan ; Bruel, Ange-Line ; Coubes, Christine ; Stefanich, Jennifer ; Sezer, Ozlem ; Agolini, Emanuele ; Novelli, Antonio ; Vasco, Gessica ; Lettori, Donatella ; Milh, Mathieu ; Villard, Laurent ; Zeidler, Shimriet ; Opperman, Henry ; Strehlow, Vincent ; Issa, Mahmoud Y. ; El Khassab, Hebatallah ; Chand, Prem ; Ibrahim, Shahnaz ; Nejad-Rashidi, Ali ; Miryounesi, Mohammad ; Larki, Pegah ; Morrison, Jennifer ; Cristian, Ingrid ; Thiffault, Isabelle ; Bertsch, Nicole L. ; Noh, Grace J. ; Pappas, John ; Moran, Ellen ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne ; Hosseini, Susan ; Abbaszadegan, Mohammad Reza ; Caumes, Roseline ; Vissers, Lisenka E.L.M. ; Neshatdoust, Maedeh ; Montazer, Mostafa Zohour ; El Fahime, Elmostafa ; Canavati, Christin ; Kamal, Lara ; Kanaan, Moien ; Askander, Omar ; Voinova, Victoria ; Levchenko, Olga ; Haider, Shahzhad ; Halbach, Sara S. ; Maia, Elias Rayana ; Mansoor, Salehi ; Vivek, Jain ; Tawde, Sanjukta ; Challa, Viveka Santhosh R. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Victor, Lucas Alves ; Pinero-Banos, Benito ; Hague, Jennifer ; Ei-Awady, Heba Ahmed ; Maria de Miranda Henriques-Souza, Adelia ; Cheema, Huma Arshad ; Anjum, Muhammad Nadeem ; Idkaidak, Sara ; Alqarajeh, Firas ; Atawneh, Osama ; Mor-Shaked, Hagar ; Harel, Tamar ; Zifarelli, Giovanni ; Bauer, Peter ; Kok, Fernando ; Kitajima, Joao Paulo ; Monteiro, Fabiola ; Josahkian, Juliana ; Lesca, Gaetan ; Chatron, Nicolas ; Ville, Dorothe ; Murphy, David ; Neul, Jeffrey L. ; Mullegama, Sureni V. ; Begtrup, Amber ; Herman, Isabella ; Mitani, Tadahiro ; Posey, Jennifer E. ; Tay, Chee Geap ; Javed, Iram ; Carr, Lucinda ; Kanani, Farah ; Beecroft, Fiona ; Hane, Lee ; Abdelkreem, Elsayed ; Macek, Milan ; Bispo, Luciana ; Elmaksoud, Marwa Abd ; Hashemi-Gorji, Farzad ; Pehlivan, Davut ; Amor, David J. ; Jamra, Rami Abou ; Chung, Wendy K. ; Ghayoor, Eshan Karimiani ; Campeau, Philippe ; Alkuraya, Fowzan S. ; Pagnamenta, Alistair T. ; Gleeson, Joseph ; Lupski, James R. ; Striano, Pasquale ; Moreno-De-Luca, Andres ; Lafontaine, Denis L.J. ; Houlden, Henry ; Maroofian, Reza
In Genetics in Medicine September 2024
Academic Journal
Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Genomics England Research Consortium; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B
Genomics England Research Consortium 2023, 'Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy', American Journal of Human Genetics, vol. 110, no. 1, pp. 120-145. https://doi.org/10.1016/j.ajhg.2022.11.011
Academic Journal
Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina ; Kim, Sung-Hoon ; Huang, Kevin ; Rocca, Clarissa ; Landsverk, Megan ; Zaki, Maha S. ; Al-Maawali, Almundher ; Srinivasan, Varunvenkat M. ; Al-Thihli, Khalid ; Schaefer, G. Bradly ; Davis, Monica ; Tonduti, Davide ; Doneda, Chiara ; Marten, Lara M. ; Mühlhausen, Chris ; Gomez, Maria ; Lamantea, Eleonora ; Mena, Rafael ; Nizon, Mathilde ; Procaccio, Vincent ; Begtrup, Amber ; Telegrafi, Aida ; Cui, Hong ; Schulz, Heidi L. ; Mohr, Julia ; Biskup, Saskia ; Loos, Mariana Amina ; Aráoz, Hilda Verónica ; Salpietro, Vincenzo ; Keppen, Laura Davis ; Chitre, Manali ; Petree, Cassidy ; Raymond, Lucy ; Vogt, Julie ; Sawyer, Lindsey B. ; Basinger, Alice A. ; Pedersen, Signe Vandal ; Pearson, Toni S. ; Grange, Dorothy K. ; Lingappa, Lokesh ; McDunnah, Paige ; Horvath, Rita ; Cognè, Benjamin ; Isidor, Bertrand ; Hahn, Andreas ; Gripp, Karen W. ; Jafarnejad, Seyed Mehdi ; Østergaard, Elsebet ; Prada, Carlos E. ; Ghezzi, Daniele ; Gowda, Vykuntaraju K. ; Taylor, Robert W. ; Sonenberg, Nahum ; Houlden, Henry ; Sissler, Marie ; Varshney, Gaurav K. ; Maroofian, Reza
In Genetics in Medicine November 2023 25(11)
Academic Journal
Smallwood, Kelly ; Watt, Kristin E.N. ; Ide, Satoru ; Baltrunaite, Kristina ; Brunswick, Chad ; Inskeep, Katherine ; Capannari, Corrine ; Adam, Margaret P. ; Begtrup, Amber ; Bertola, Debora R. ; Demmer, Laurie ; Demo, Erin ; Devinsky, Orrin ; Gallagher, Emily R. ; Guillen Sacoto, Maria J. ; Jech, Robert ; Keren, Boris ; Kussmann, Jennifer ; Ladda, Roger ; Lansdon, Lisa A. ; Lunke, Sebastian ; Mardy, Anne ; McWalters, Kirsty ; Person, Richard ; Raiti, Laura ; Saitoh, Noriko ; Saunders, Carol J. ; Schnur, Rhonda ; Skorvanek, Matej ; Sell, Susan L. ; Slavotinek, Anne ; Sullivan, Bonnie R. ; Stark, Zornitza ; Symonds, Joseph D. ; Wenger, Tara ; Weber, Sacha ; Whalen, Sandra ; White, Susan M. ; Winkelmann, Juliane ; Zech, Michael ; Zeidler, Shimriet ; Maeshima, Kazuhiro ; Stottmann, Rolf W. ; Trainor, Paul A. ; Weaver, K. Nicole
In The American Journal of Human Genetics 4 May 2023 110(5):809-825
Academic Journal
Nieto-Patlán, Alejandro; Worley, Lindsay; Hankey, William; Hilliard, Kyle; Siew, Justine; Wang, Lijun; Boisson, Bertrand; Maimaris, Jes; Cunningham-Rundles, Charlotte; Jordan, Michael; Ma, Cindy; Peng, Xiao; McLaughlin, Heather; Zelm, Menno van; Lucas, Carrie; Markle, Janet; Puel, Anne; Begtrup, Amber
Clinical Immunology. 262
Academic Journal
Van Gucht, Ilse; Meester, Josephina A.N.; Bento, Jotte Rodrigues; Bastiaansen, Maaike; Bastianen, Jarl; Luyckx, Ilse; Van Den Heuvel, Lotte; Neutel, Cédric H.G.; Guns, Pieter-Jan; Vermont, Mandy; Fransen, Erik; Perik, Melanie H.A.M.; Velchev, Joe Davis; Alaerts, Maaike; Schepers, Dorien; Peeters, Silke; Pintelon, Isabel; Almesned, Abdulrahman; Ferla, Matteo P.; Taylor, Jenny C.; Dallosso, Anthony R.; Williams, Maggie; Evans, Julie; Rosenfeld, Jill A.; Sluysmans, Thierry; Rodrigues, Desiderio; Chikermane, Ashish; Bharmappanavara, Gangadhara; Vijayakumar, Kayal; Mottaghi Moghaddam Shahri, Hassan; Hashemi, Narges; Torbati, Paria Najarzadeh; Toosi, Mehran B.; Al-Hassnan, Zuhair N.; Vogt, Julie; Revencu, Nicole; Maystadt, Isabelle; Miller, Erin M.; Weaver, K. Nicole; Begtrup, Amber; Houlden, Henry; Murphy, David; Maroofian, Reza; Pagnamenta, Alistair T.; Van Laer, Lut; Loeys, Bart L.; Verstraeten, Aline
American Journal of Human Genetics, 108, 6, pp. 1115-1125
The American journal of human genetics
The American Journal of Human Genetics
The American journal of human genetics
The American Journal of Human Genetics
Academic Journal
Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad YV; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Consortium, Care4Rare Canada; Consortium, Genomics England Research; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger
Am J Hum Genet
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
Care4Rare Canada Consortium 2021, 'Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082. https://doi.org/10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics, vol 108, iss 6
The American Journal of Human Genetics
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
Care4Rare Canada Consortium 2021, 'Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082. https://doi.org/10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics, vol 108, iss 6
The American Journal of Human Genetics
Academic Journal
Begemann, Anaïs; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Banka, Siddharth; Alhaddad, Bader; Asadollahi, Reza; Becker, Jessica; Bierhals, Tatjana; Brown, Kathleen; Bruel, Ange-Line; Brunet, Theresa; Carneiro, Maryline; Cremer, Kirsten; Day, Robert; Denommé-Pichon, Anne-Sophie; Dyment, Dave; Engels, Hartmut; Fisher, Rachel; Goh, Elaine; Hajianpour, M.; Haertel, Lucia Ribeiro Machado; Hauer, Nadine; Hempel, Maja; Herget, Theresia; Johannsen, Jessika; Kraus, Cornelia; Le Guyader, Gwenaël; Lesca, Gaetan; Mau-Them, Frédéric Tran; Mcdermott, John Henry; Mcwalter, Kirsty; Meyer, Pierre; Õunap, Katrin; Popp, Bernt; Reimand, Tiia; Riedhammer, Korbinian; Russo, Martina; Sadleir, Lynette; Saenz, Margarita; Schiff, Manuel; Schuler, Elisabeth; Syrbe, Steffen; van Der Ven, Amelie Theresa; Verloes, Alain; Willems, Marjolaine; Zweier, Christiane; Steindl, Katharina; Zweier, Markus; Rauch, Anita
Genet Med
Begemann, A, Sticht, H,Begtrup , A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J, Bierhals, T, Brown, KE, Bruel, AL, Brunet, T & Rauch, A 2020, 'New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-020-01011-x
Begemann, A, Sticht, H,
Academic Journal
Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B.; Agre, Katherine E.; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R.; Muppidi, Srikanth; Pichurin, Pavel N.; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P.; Rödström, Karin E. J.; Hahn, Michael G.; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E.; Wright, Caroline F.; Tucker, Stephen J.
Nature Genetics. 54(10):1534-1543
Academic Journal
Hankey, William; Worley, Lindsay; Hilliard, Kyle; McNulty, Shannon; Peng, Xiao; Romberg, Neil; Puel, Anne; Begtrup, Amber; Nieto-Patlán, Alejandro
Clinical Immunology. 250
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