학술논문
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'학술논문'
에서 검색결과 134건 | 목록
1~20
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
Peron, Angela; D’Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina
European Journal of Human Genetics. 33(3):312-324
Academic Journal
Sabeh, Pascale ; Dumas, Samantha A. ; Maios, Claudia ; Daghar, Hiba ; Korzeniowski, Marek ; Rousseau, Justine ; Lines, Matthew ; Guerin, Andrea ; Millichap, John J. ; Landsverk, Megan ; Grebe, Theresa ; Lindstrom, Kristin ; Strober, Jonathan ; Ait Mouhoub, Tarik ; Zweier, Christiane ; Steinraths, Michelle ; Hebebrand, Moritz ; Callewaert, Bert ; Abou Jamra, Rami ; Kautza-Lucht, Monika ; Wegler, Meret ; Kruszka, Paul ; Kumps, Candy ; Banne, Ehud ; Waberski, Marta Biderman ; Dieux, Anne ; Raible, Sarah ; Krantz, Ian ; Medne, Livija ; Pechter, Kieran ; Villard, Laurent ; Guerrini, Renzo ; Bianchini, Claudia ; Barba, Carmen ; Mei, Davide ; Blanc, Xavier ; Kallay, Christine ; Ranza, Emmanuelle ; Yang, Xiao-Ru ; O'Heir, Emily ; Donald, Kirsten A. ; Murugasen, Serini ; Bruwer, Zandre ; Calikoglu, Muge ; Mathews, Jennifer M. ; Lesieur-Sebellin, Marion ; Baujat, Geneviève ; Derive, Nicolas ; Pierson, Tyler Mark ; Murrell, Jill R. ; Shillington, Amelle ; Ormieres, Clothilde ; Rondeau, Sophie ; Reis, André ; Fernandez-Jaen, Alberto ; Au, Ping Yee Billie ; Sweetser, David A. ; Briere, Lauren C. ; Couque, Nathalie ; Perrin, Laurence ; Schymick, Jennifer ; Gueguen, Paul ; Lefebvre, Mathilde ; Van Andel, Michael ; Juusola, Jane ; Antonarakis, Stylianos E. ; Parker, J. Alex ; Burnett, Barrington G. ; Campeau, Philippe M.
In The American Journal of Human Genetics 2 January 2025 112(1):75-86
Academic Journal
Colijn, Mark Ainsley; Vrijsen, Stephanie; Au, Ping Yee Billie; Abou El Asrar, Rania; Houdou, Marine; Van den Haute, Chris; Sarna, Justyna; Montgomery, Greg; Vangheluwe, Peter
Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. :1-11
Academic Journal
Bereshneh, Ali H.; Wilson, Kirkland A.; Pan, Xueyang; Hannan, Shabab B.; Cooper, Megan A.; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M.; Azamian, Mahshid S.; Scott, Daryl A.; Au, Ping Yee Billie; Appendino, Juan Pablo; Scheffer, Ingrid E.; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S.; Morgan, Angela T.; Ekure, Ekanem; Shulman, Joshua M.; Hildebrandt, Friedhelm; Posey, Jennifer E.; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J.; Baylor Col Med Ctr Precision Med Models
Academic Journal
Lisa Pavinato; Andrea Delle Vedove; Diana Carli; Marta Ferrero; Silvia Carestiato; Jennifer L Howe; Emanuele Agolini; Domenico A Coviello; Ingrid van de Laar; Ping Yee Billie Au; Eleonora Di Gregorio; Alessandra Fabbiani; Susanna Croci; Maria Antonietta Mencarelli; Lucia P Bruno; Alessandra Renieri; Danai Veltra; Christalena Sofocleous; Laurence Faivre; Benoit Mazel; Hana Safraou; Anne-Sophie Denommé-Pichon; Marjon A van Slegtenhorst; Noor Giesbertz; Richard H van Jaarsveld; Anna Childers; R Curtis Rogers; Antonio Novelli; Silvia De Rubeis; Joseph D Buxbaum; Stephen W Scherer; Giovanni Battista Ferrero; Brunhilde Wirth; Alfredo Brusco
Brain
Academic Journal
Shafiq, Tooba ; Feng, Joanna L. ; Phillips, Lindsay ; Murias, Kara ; Ferguson, Marcia ; Baranano, Kristin ; Acchione, Alaina ; Kipkemoi, Patricia ; Kipkoech, Collins ; Chepkemoi, Eunice ; Abubakar, Amina ; Newton, Charles ; van der Merwe, Celia ; O’Heir, Emily ; Galvin, Alice ; Garcia, Aixa Gonzalez ; D’Souza, Alisha ; Stefanich, Jennifer ; Shillington, Amelle ; Tuttle, Annabelle ; Torti, Erin ; Zhu, Elen ; Morsink, Margaretha AJ ; Lebayle, Ekaterina ; Corneo, Barbara ; Ricupero, Christopher L. ; Au, Ping Yee Billie ; Kline, Antonie D. ; Balasubramanian, Meena ; Bain, Jennifer ; Gillentine, Madelyn A.
In Rare 2024 2
Academic Journal
Pijpers, Judith A.; Au, Ping Yee Billie; Weeke, Lauren C.; Vein, Alla A.; Smit, Liesbeth S.; Vilan, Ana; Jacobs, Elke; de Vries, Linda S.; Steggerda, Sylke J.; Cilio, Maria Roberta; Carapancea, Evelina; Cornet, Marie-Coralie; Appendino, Juan P.; Peeters-Scholte, Cacha M.P.C.D.
Seizure: European Journal of Epilepsy. 110:212-219
Academic Journal
Sophie vonBrauchitsch; Denise Haslinger; Silvia Lindlar; Holger Thiele; Natalie Bernsen; Felix Zahnert; Philipp S. Reif; Yunus Balcik; Ping Yee Billie Au; Colin B. Josephson; Janine Altmüller; Adam Strzelczyk; Susanne Knake; Felix Rosenow; Andreas Chiocchetti; Karl Martin Klein
Epilepsia Open, Vol 8, Iss 2, Pp 497-508 (2023)
Academic Journal
Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; Leitão, Elsa; Person, Richard; Mizuguchi, Takeshi; Matsumoto, Naomichi; Kato, Mitsuhiro; Nakamura, Kazuyuki; de Man, Stella A.; Cope, Heidi; Shashi, Vandana; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Muffels, Irena; van Hasselt, Peter M.; Petit, Florence; Smol, Thomas; Le Guyader, Gwenaël; Bilan, Frédéric; Sorlin, Arthur; Vitobello, Antonio; Philippe, Christophe; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Campeau, Philippe M.; Au, Ping Yee Billie; Nakashima, Mitsuko; Saitsu, Hirotomo; Yamamoto, Tatsuya; Nomura, Yumiko; Louie, Raymond J.; Lyons, Michael J.; Dobson, Amy; Plomp, Astrid S.; Motazacker, M. Mahdi; Kaiser, Frank J.; Timberlake, Andrew T.; Fuchs, Sabine A.; Depienne, Christel; Mignot, Cyril; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; 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.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Deardorff, Matthew; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; LaMoure, Grace L.; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; Macnamara, Ellen F.; Mac-Rae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan 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 GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Shin, Jimann; Signer, Rebecca; 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, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan
Hum Genet
Academic Journal
Alsayed, Ala'a; Hakim, Zainab; Merrikh, Daria; Khanbabaei, Maryam; Kaur, Navprabhjot; Hader, Walter; Soule, Tyler; Ashtiani, Setareh; Polanco-Tovar, Grace; Scantlebury, Morris; Rahi, Hamed; Cao, Yang; Chan, Jennifer A.; Appendino, Juan P.; Pfeffer, Gerald; Au, Ping Yee Billie; Klein, Karl Martin
Academic Journal
Paul W. Chrystal; Nils J. Lambacher; Lance P. Doucette; James Bellingham; Elena R. Schiff; Nicole C. L. Noel; Chunmei Li; Sofia Tsiropoulou; Geoffrey A. Casey; Yi Zhai; Nathan J. Nadolski; Mohammed H. Majumder; Julia Tagoe; Fabiana D’Esposito; Maria Francesca Cordeiro; Susan Downes; Jill Clayton-Smith; Jamie Ellingford; Genomics England Research Consortium; Omar A. Mahroo; Jennifer C. Hocking; Michael E. Cheetham; Andrew R. Webster; Gert Jansen; Oliver E. Blacque; W. Ted Allison; Ping Yee Billie Au; Ian M. MacDonald; Gavin Arno; Michel R. Leroux
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
Academic Journal
Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena ; Mohammadi, Nazanin A. ; Pérez-Palma, Eduardo ; Schaefer, Elise ; De Saint Martin, Anne ; Abiwarde, Marie Therese ; McTague, Amy ; Pons, Roser ; Piton, Amelie ; Kurian, Manju A. ; Ambegaonkar, Gautam ; Firth, Helen ; Sanchis-Juan, Alba ; Deprez, Marie ; Jansen, Katrien ; De Waele, Liesbeth ; Briltra, Eva H. ; Verbeek, Nienke E. ; van Kempen, Marjan ; Fazeli, Walid ; Striano, Pasquale ; Zara, Federico ; Visser, Gerhard ; Braakman, Hilde M.H. ; Haeusler, Martin ; Elbracht, Miriam ; Vaher, Ulvi ; Smol, Thomas ; Lemke, Johannes R. ; Platzer, Konrad ; Kennedy, Joanna ; Klein, Karl Martin ; Au, Ping Yee Billie ; Smyth, Kimberly ; Kaplan, Julie ; Thomas, Morgan ; Dewenter, Malin K. ; Dinopoulos, Argirios ; Campbell, Arthur J. ; Lal, Dennis ; Lederer, Damien ; Liao, Vivian W.Y. ; Ahring, Philip K. ; Møller, Rikke S. ; Gardella, Elena
In Genetics in Medicine March 2022 24(3):681-693
Academic Journal
Quentin Plumereau; Aya Ebdalla; Hugo Poulin; Juan Pablo Appendino; Morris H. Scantlebury; Ping Yee Billie Au; Mohamed Chahine
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T. ; Lamothe, Shawn M. ; Maghera, Jasmine ; Jamra, Rami Abou ; Alkelai, Anna ; Antonarakis, Stylianos E. ; Atallah, Isis ; Bar-Yosef, Omer ; Bilan, Frédéric ; Bjorgo, Kathrine ; Blanc, Xavier ; Van Bogaert, Patrick ; Bolkier, Yoav ; Burrage, Lindsay C. ; Christ, Björn U. ; Granadillo, Jorge L. ; Dickson, Patricia ; Donald, Kirsten A. ; Dubourg, Christèle ; Eliyahu, Aviva ; Emrick, Lisa ; Engleman, Kendra ; Gonfiantini, Michaela Veronika ; Good, Jean-Marc ; Kalser, Judith ; Kloeckner, Chiara ; Lachmeijer, Guus ; Macchiaiolo, Marina ; Nicita, Francesco ; Odent, Sylvie ; O’Heir, Emily ; Ortiz-Gonzalez, Xilma ; Pacio-Miguez, Marta ; Palomares-Bralo, María ; Pena, Loren ; Platzer, Konrad ; Quinodoz, Mathieu ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Roulet-Perez, Eliane ; Santani, Avni ; Santos-Simarro, Fernando ; Pode-Shakked, Ben ; Skraban, Cara ; Slaugh, Rachel ; Superti-Furga, Andrea ; Thiffault, Isabelle ; van Jaabrsveld, Richard H. ; Vincent, Marie ; Wang, Hong-Gang ; Zacher, Pia ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Craigen, William J. ; Dai, Hongzheng ; Dhar, Shweta U. ; Emrick, Lisa T. ; Goldman, Alica M. ; Hanchard, Neil A. ; Jamal, Fariha ; Karaviti, Lefkothea ; Lalani, Seema R. ; Lee, Brendan H. ; Lewis, Richard A. ; Marom, Ronit ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Orengo, James P. ; Posey, Jennifer E. ; Potocki, Lorraine ; Samson, Susan L. ; Scott, Daryl A. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Liu, Pengfei ; Ward, Patricia A. ; Behrens, Edward ; Deardorff, Matthew ; Falk, Marni ; Hassey, Kelly ; Sullivan, Kathleen ; Vanderver, Adeline ; Goldstein, David B. ; Cope, Heidi ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Shashi, Vandana ; Smith, Edward C. ; Sullivan, Jennifer A. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Agrawal, Pankaj B. ; Beggs, Alan H. ; Berry, Gerard T. ; Briere, Lauren C. ; Cobban, Laurel A. ; Coggins, Matthew ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; High, Frances ; Holm, Ingrid A. ; Korrick, Susan ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Pallais, J. Carl ; Rao, Deepak A. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walker, Melissa ; Walsh, Chris A. ; Esteves, Cecilia ; Kelley, Emily G. ; Kohane, Isaac S. ; LeBlanc, Kimberly ; McCray, Alexa T. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Lanza, Ian R. ; Morava, Eva ; Oglesbee, Devin ; Bademci, Guney ; Barbouth, Deborah ; Bivona, Stephanie ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Zuchner, Stephan ; Colley, Heather A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Findley, Laurie C. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mulvihill, John J. ; LaMoure, Grace L. ; Goldrich, Madison P. ; Urv, Tiina K. ; Doss, Argenia L. ; Acosta, Maria T. ; Bonnenmann, Carsten ; D’Souza, Precilla ; Draper, David D. ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Markello, Thomas C. ; Nath, Avi ; Novacic, Donna ; Pusey, Barbara N. ; Toro, Camilo ; Wahl, Colleen E. ; Baker, Eva ; Burke, Elizabeth A. ; Adams, David R. ; Gahl, William A. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Yang, John ; Power, Bradley ; Gochuico, Bernadette ; Huryn, Laryssa ; Latham, Lea ; Davis, Joie ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Ben Solomon ; MacDowall, John ; Thurm, Audrey ; Zein, Wadih ; Yousef, Muhammad ; Adam, Margaret ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Berg-Rood, Beverly ; Blue, Elizabeth ; Boyd, Brenna ; Byers, Peter ; Chanprasert, Sirisak ; Cunningham, Michael ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Glass, Ian ; Golden-Grant, Katie ; Hahn, Sihoun ; Hing, Anne ; Hisama, Fuki M. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Lam, Christina ; Maravilla, Kenneth ; Mefford, Heather ; Merritt, J. Lawrence ; Mirzaa, Ghayda ; Nickerson, Deborah ; Raskind, Wendy ; Rosenwasser, Natalie ; Scott, C. Ron ; Sun, Angela ; Sybert, Virginia ; Wallace, Stephanie ; Wener, Mark ; Wenger, Tara ; Ashley, Euan A. ; Bejerano, Gill ; Bernstein, Jonathan A. ; Bonner, Devon ; Coakley, Terra R. ; Fernandez, Liliana ; Fisher, Paul G. ; Fresard, Laure ; Hom, Jason ; Huang, Yong ; Kohler, Jennefer N. ; Kravets, Elijah ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; Raja, Archana N. ; Reuter, Chloe M. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Smith, Kevin S. ; Sutton, Shirley ; Tabor, Holly K. ; Tucker, Brianna M. ; Wheeler, Matthew T. ; Zastrow, Diane B. ; Zhao, Chunli ; Byrd, William E. ; Crouse, Andrew B. ; Might, Matthew ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Brown, Gabrielle ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Douine, Emilie D. ; Fogel, Brent L. ; Gutierrez, Irma ; Huang, Alden ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Nieves-Rodriguez, Shirley ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Renteria, Genecee ; Signer, Rebecca H. ; Sinsheimer, Janet S. ; Wan, Jijun ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Alvey, Justin ; Andrews, Ashley ; Bale, Jim ; Bohnsack, John ; Botto, Lorenzo ; Carey, John ; Pace, Laura ; Longo, Nicola ; Marth, Gabor ; Moretti, Paolo ; Quinlan, Aaron ; Velinder, Matt ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Westerfield, Monte ; Bican, Anna ; Brokamp, Elly ; Duncan, Laura ; Hamid, Rizwan ; Kennedy, Jennifer ; Kozuira, Mary ; Newman, John H. ; PhillipsIII, John A. ; Rives, Lynette ; Robertson, Amy K. ; Solem, Emily ; Cogan, Joy D. ; Cole, F. Sessions ; Hayes, Nichole ; Kiley, Dana ; Sisco, Kathy ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Pak, Stephen ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Rush, Eric ; Pitt, Geoffrey S. ; Au, Ping Yee Billie
In Genetics in Medicine October 2021 23(10):1922-1932
Academic Journal
Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G.; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S.; Vasileiou, Georgia; Reis, Andre; Prince, Bradley; Hickey, Scott E.; Koboldt, Daniel C.; Schneider, Michael C.; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M. Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C.; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B.; Aldinger, Kimberly A.
Academic Journal
Wen-Hann Tan; Katherine Anderson; Anjali Sadhwani; Ping Yee Billie Au; Carlos Bacino; Elizabeth Berry-Kravis; Cyrus Boelman; Robert Carson; Margaret DeRamus; Jessica Duis; Kara Murias; Cesar Ochoa-Lubinoff; Sarika Peters; Erick Sell; Steven Skinner; Amy Talboy; Anne Wheeler; Logan Wink; Angela Gwaltney; Lynne Bird
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100116- (2023)
Academic Journal
Kloth, Katja; Lozic, Bernarda; Tagoe, Julia; Hoffer, Mariëtte J. V.; Van der Ven, Amelie; Thiele, Holger; Altmüller, Janine; Kubisch, Christian; Au, Ping Yee Billie; Denecke, Jonas; Bijlsma, Emilia K.; Lessel, Davor
neurogenetics. 22(4):263-269
Academic Journal
Cherian, Christina; Appendino, Juan P.; Ashtiani, Setareh; Federico, Paolo; Molnar, Christine P.; Kerr, Marina; Khan, Aneal; Au, Ping Yee Billie; Klein, Karl Martin
Journal of Neurology. :1-10
Academic Journal
Ganapathi, Mythily ; Padgett, Leah R. ; Yamada, Kentaro ; Devinsky, Orrin ; Willaert, Rebecca ; Person, Richard ; Au, Ping-Yee Billie ; Tagoe, Julia ; McDonald, Marie ; Karlowicz, Danielle ; Wolf, Barry ; Lee, Joanna ; Shen, Yufeng ; Okur, Volkan ; Deng, Liyong ; LeDuc, Charles A. ; Wang, Jiayao ; Hanner, Ashleigh ; Mirmira, Raghavendra G. ; Park, Myung Hee ; Mastracci, Teresa L. ; Chung, Wendy K.
In The American Journal of Human Genetics 7 February 2019 104(2):287-298
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