학술논문
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'학술논문'
에서 검색결과 166건 | 목록
1~20
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Batista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco
Brain
Academic Journal
Scala, Marcello; Bradley, Clarrisa A.; Howe, Jennifer L.; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S.; Anagnostou, Evdokia; MacDonald, Jeffrey R.; Ko, Sangyoon Y.; Frankland, Paul W.; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F.; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V.; Douine, Emilie D.; Corona, Rosario Ivetth; Russell, Bianca E.; Nelson, Stanley F.; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W.
The American Journal of Human Genetics. 112:154-167
Academic Journal
Anderson, Eric N. ; Drukewitz, Stephan ; Kour, Sukhleen ; Chimata, Anuradha V. ; Rajan, Deepa S. ; Schönnagel, Senta ; Stals, Karen L. ; Donnelly, Deirdre ; O'Sullivan, Siobhan ; Mantovani, John F. ; Tan, Tiong Y. ; Stark, Zornitza ; Zacher, Pia ; Chatron, Nicolas ; Monin, Pauline ; Drunat, Severine ; Vial, Yoann ; Latypova, Xenia ; Levy, Jonathan ; Verloes, Alain ; Carter, Jennefer N. ; Bonner, Devon E. ; Shankar, Suma P. ; Bernstein, Jonathan A. ; Cohen, Julie S. ; Comi, Anne ; Carere, Deanna Alexis ; Dyer, Lisa M. ; Mullegama, Sureni V. ; Sanchez-Lara, Pedro A. ; Grand, Katheryn ; Kim, Hyung-Goo ; Ben-Mahmoud, Afif ; Gospe, Sidney M., Jr. ; Belles, Rebecca S. ; Bellus, Gary ; Lichtenbelt, Klaske D. ; Oegema, Renske ; Rauch, Anita ; Ivanovski, Ivan ; Mau-Them, Frederic Tran ; Garde, Aurore ; Rabin, Rachel ; Pappas, John ; Bley, Annette E. ; Bredow, Janna ; Wagner, Timo ; Decker, Eva ; Bergmann, Carsten ; Domenach, Louis ; Margot, Henri ; Lemke, Johannes R. ; Abou Jamra, Rami ; Hentschel, Julia ; Mefford, Heather ; Singh, Amit ; Pandey, Udai Bhan ; Platzer, Konrad
In The American Journal of Human Genetics 8 January 2026 113(1):100-116
Academic Journal
Borroto, Maria Carla; Patel, Heena, PharmD; Srivastava, Siddharth, MD; Swanson, Lindsay C., MS; Keren, Boris, MD, PhD; Whalen, Sandra, MD; Mignot, Cyril, MD, PhD; Wang, Xiaodong, PhD; Chen, Qian, MSc, PhD; Rosenfeld, Jill A., MS; McLean, Scott, MD; Littlejohn, Rebecca O., MS; Emrick, Lisa, MD; Burrage, Lindsay C., MD, PhD; Attali, Ruben, MSc, PhD; Lesca, Gaetan, MD, PhD; Acquaviva-Bourdain, Cecile, PharmD, PhD; Sarret, Catherine, MD, PhD; Seaver, Laurie H., MD; Platzer, Konrad, MD; Bartolomaeus, Tobias, MD; Wünsch, Cornelia, MD; Fischer, Susann, MD, PhD; Rodriguez Barreto, Ana Maria, MD; Granadillo, Jorge L., MD, MSc; Schreiner, Elisabeth, MD; Brunet, Theresa, MD; Schatz, Ulrich A., MD; Thiffault, Isabelle, PhD; Mullegama, Sureni V., PhD; Michaud, Jacques L., MD; Hamdan, Fadi F., PhD, MSc; Rossignol, Elsa, MD, MSc; Campeau, Philippe M., MD; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan
Pediatric Neurology. 160:45-53
Academic Journal
Torti, Erin; Mullegama, Sureni V.; De Bie, Isabelle; Mercier, Angelique; Carere, Deanna Alexis; Folk, Leandra; Juusola, Jane; Monaghan, Kristin G.; Wentzensen, Ingrid M.; Redlich, Olivia L.; Reich, Adi; McGivern, Bobbi
Human Genetics and Genomics Advances. 6(2)
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
Elkhateeb, Nour ; Crookes, Renarta ; Spiller, Michael ; Pavinato, Lisa ; Palermo, Flavia ; Brusco, Alfredo ; Parker, Michael ; Park, Soo-Mi ; Mendes, Ariana Costa ; Saraiva, Jorge M. ; Hammer, Trine Bjørg ; Nazaryan-Petersen, Lusine ; Barakat, Tahsin Stefan ; Wilke, Martina ; Bhoj, Elizabeth ; Ahrens-Nicklas, Rebecca C. ; Li, Dong ; Nomakuchi, Tomoki ; Brilstra, Eva H. ; Hunt, David ; Johnson, Diana ; Mansour, Sahar ; Oprych, Kathryn ; Mehta, Sarju G. ; Platzer, Konrad ; Schnabel, Franziska ; Kiep, Henriette ; Faust, Helene ; Prinzing, Gillian ; Wiltrout, Kimberly ; Radley, Jessica A. ; Serrano Russi, Alvaro H. ; Atallah, Isis ; Campos-Xavier, Belinda ; Amor, David J. ; Morgan, Angela T. ; Fagerberg, Christina ; Andersen, Ulla A. ; Andersen, Charlotte B. ; Bijlsma, Emilia K. ; Bird, Lynne M. ; Mullegama, Sureni V. ; Green, Andrew ; Isidor, Bertrand ; Cogné, Benjamin ; Kenny, Janna ; Lynch, Sally A. ; Quin, Shauna ; Low, Karen ; Herget, Theresia ; Kortüm, Fanny ; Levy, Rebecca J. ; Morrison, Jennifer L. ; Wheeler, Patricia G. ; Narumanch, TaraChandra ; Peron, Kristina ; Matthews, Nicole ; Uhlman, Jillian ; Bell, Lauren ; Pang, Lewis ; Scurr, Ingrid ; Belles, Rebecca S. ; Salbert, Bonnie Anne ; Schaefer, Gerald Bradley ; Green, Sarah ; Ros, Andrea ; Rodríguez-Palmero, Agustí ; Višnjar, Tanja ; Writzl, Karin ; Vasudevan, Pradeep C. ; Balasubramanian, Meena
In Genetics in Medicine March 2025 27(3)
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
Kurganov, Erkin; Cui, Lei; Budnik, Nikita; Chen, Siwei; Olivares, Erick; Baez-Nieto, David; Asan, Ahmet S.; Lusk, Laina; Smith, Lacey; Jo, Sooyeon; Marques, Diogo; Nehme, Ralda; Mullegama, Sureni V.; Lindy, Amanda; George, Alfred L.; Poduri, Annapurna; Helbig, Ingo; Daly, Mark; Pan, Jen Q.
Academic Journal
Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona ; Wechsberg, Oded ; Vetro, Annalisa ; Guerrini, Renzo ; FitzPatrick, David ; Poole, Rebecca L. ; Lebrun, Marine ; Bayat, Allan ; Grasshoff, Ute ; Bertrand, Miriam ; Witt, Dennis ; Turnpenny, Peter D. ; Faundes, Víctor ; Santa María, Lorena ; Mendoza Fuentes, Carolina ; Mabe, Paulina ; Hussain, Shaun A. ; Mullegama, Sureni V. ; Torti, Erin ; Oehl-Jaschkowitz, Barbara ; Salmon, Lina Basel ; Orenstein, Naama ; Shahar, Noa Ruhrman ; Hagari, Ofir ; Bazak, Lily ; Hoffjan, Sabine ; Prada, Carlos E. ; Haack, Tobias ; Elliott, David J.
In Genetics in Medicine April 2023 25(4)
Academic Journal
Dias, Kerith-Rae ; Carlston, Colleen M. ; Blok, Laura E.R. ; De Hayr, Lachlan ; Nawaz, Urwah ; Evans, Carey-Anne ; Bayrak-Toydemir, Pinar ; Htun, Stephanie ; Zhu, Ying ; Ma, Alan ; Lynch, Sally Ann ; Moorwood, Catherine ; Stals, Karen ; Ellard, Sian ; Bainbridge, Matthew N. ; Friedman, Jennifer ; Pappas, John G. ; Rabin, Rachel ; Nowak, Catherine B. ; Douglas, Jessica ; Wilson, Theodore E. ; Guillen Sacoto, Maria J. ; Mullegama, Sureni V. ; Palculict, Timothy Blake ; Kirk, Edwin P. ; Pinner, Jason R. ; Edwards, Matthew ; Montanari, Francesca ; Graziano, Claudio ; Pippucci, Tommaso ; Dingmann, Bri ; Glass, Ian ; Mefford, Heather C. ; Shimoji, Takeyoshi ; Suzuki, Toshimitsu ; Yamakawa, Kazuhiro ; Streff, Haley ; Schaaf, Christian P. ; Slavotinek, Anne M. ; Voineagu, Irina ; Carey, John C. ; Buckley, Michael F. ; Schenck, Annette ; Harvey, Robert J. ; Roscioli, Tony
In Genetics in Medicine September 2022 24(9):1952-1966
Academic Journal
Andrew T. Timberlake; Casey Griffin; Carrie L. Heike; Anne V. Hing; Michael L. Cunningham; David Chitayat; Mark R. Davis; Soghra J. Doust; Amelia F. Drake; Milagros M. Duenas-Roque; Jack Goldblatt; Jonas A. Gustafson; Paula Hurtado-Villa; Alexis Johns; Natalya Karp; Nigel G. Laing; Leanne Magee; University of Washington Center for Mendelian Genomics; Sureni V. Mullegama; Harry Pachajoa; Gloria L. Porras-Hurtado; Rhonda E. Schnur; Jennie Slee; Steven L. Singer; David A. Staffenberg; Andrew E. Timms; Cheryl A. Wise; Ignacio Zarante; Jean-Pierre Saint-Jeannet; Daniela V. Luquetti
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Academic Journal
Sureni V. Mullegama; Steven D. Klein; Stephen R. Williams; Jeffrey W. Innis; Frank J. Probst; Chad Haldeman-Englert; Julian A. Martinez-Agosto; Ying Yang; Yuchen Tian; Sarah H. Elsea; Toshihiko Ezashi
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Academic Journal
Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Academic Journal
Perkins, Tiffany ; Rosenberg, Jacob M. ; Le Coz, Carole ; Alaimo, Joseph T. ; Trofa, Melissa ; Mullegama, Sureni V. ; Antaya, Richard J. ; Jyonouchi, Soma ; Elsea, Sarah H. ; Utz, Paul J. ; Meffre, Eric ; Romberg, Neil
In The Journal of Allergy and Clinical Immunology: In Practice September-October 2017 5(5):1344-1350
Academic Journal
Alaimo, Joseph T. ; Barton, Laura V. ; Mullegama, Sureni V. ; Wills, Rachel D. ; Foster, Rebecca H. ; Elsea, Sarah H.
In Research in Developmental Disabilities December 2015 47:27-38
Academic Journal
Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt II, J. Lawrence; Muller II, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Yang, Jun; Juusola, Jane; Care4Rare Canada Consortium; Undiagnosed Dis Network
Academic Journal
Sureni V. Mullegama; Phillip Jensik; Chen Li; Naghmeh Dorrani; UCLA Clinical Genomics Center; Sibel Kantarci; Bruce Blumberg; Wayne W. Grody; Samuel P. Strom
Clinical Case Reports, Vol 5, Iss 6, Pp 833-840 (2017)
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