부산대학교 도서관

Palomaki, Glenn E. ; Smith, Wendy E. ; Bajaj, Komal ; Rowsey, Ross ; Hurst, Anna C.E. ; Messerlian, Geralyn ; Best, Robert G.

In Genetics in Medicine September 2025 27(9)

Dickson, Alexa; Cone, Kelsey R.; Fortini, Barbara K.; Goldstein, Jennifer; Thompson, Michelle L.; Wilke, Matheus V.M.B.; Hurst, Anna C.E.; Schroeder, Molly C.; Polonis, Katarzyna; Bowling, Kevin M.

The Journal of Molecular Diagnostics.

Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.

In Human Genetics and Genomics Advances 18 July 2024 5(3)

Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Galazzi, Elena; van Gils, Julien; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.

Human Genetics and Genomics Advances. 5(4)

Chen, Yunjia ; Karaca, Ender ; Robin, Nathaniel H. ; Goodloe, Dana ; Al-Beshri, Ali ; Dean, S. Joy ; Hurst, Anna C.E. ; Carroll, Andrew J. ; Mikhail, Fady M.

In Genetics in Medicine January 2024 26(1)

Felker, Stephanie A. ; Lawlor, James M.J. ; Hiatt, Susan M. ; Thompson, Michelle L. ; Latner, Donald R. ; Finnila, Candice R. ; Bowling, Kevin M. ; Bonnstetter, Zachary T. ; Bonini, Katherine E. ; Kelly, Nicole R. ; Kelley, Whitley V. ; Hurst, Anna C.E. ; Rashid, Salman ; Kelly, Melissa A. ; Nakouzi, Ghunwa ; Hendon, Laura G. ; Bebin, E. Martina ; Kenny, Eimear E. ; Cooper, Gregory M.

In Genetics in Medicine August 2023 25(8)

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal ; Jackson, Adam ; Banka, Siddharth ; Pfundt, Rolph ; de Vries, Bert B.A. ; van Jaarsveld, Richard H. ; Hopman, Saskia M.J. ; van Binsbergen, Ellen ; Valenzuela, Irene ; Hempel, Maja ; Bierhals, Tatjana ; Kortüm, Fanny ; Lecoquierre, Francois ; Goldenberg, Alice ; Hertz, Jens Michael ; Andersen, Charlotte Brasch ; Kibæk, Maria ; Prijoles, Eloise J. ; Stevenson, Roger E. ; Everman, David B. ; Patterson, Wesley G. ; Meng, Linyan ; Gijavanekar, Charul ; De Dios, Karl ; Lakhani, Shenela ; Levy, Tess ; Wagner, Matias ; Wieczorek, Dagmar ; Benke, Paul J. ; Lopez Garcia, María Soledad ; Perrier, Renee ; Sousa, Sergio B. ; Almeida, Pedro M. ; Simões, Maria José ; Isidor, Bertrand ; Deb, Wallid ; Schmanski, Andrew A. ; Abdul-Rahman, Omar ; Philippe, Christophe ; Bruel, Ange-Line ; Faivre, Laurence ; Vitobello, Antonio ; Thauvin, Christel ; Smits, Jeroen J. ; Garavelli, Livia ; Caraffi, Stefano G. ; Peluso, Francesca ; Davis-Keppen, Laura ; Platt, Dylan ; Royer, Erin ; Leeuwen, Lisette ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tiller, George E. ; Bosch, Daniëlle G.M. ; Potgieter, Stephanus T. ; Joss, Shelagh ; Splitt, Miranda ; Holden, Simon ; Prapa, Matina ; Foulds, Nicola ; Douzgou, Sofia ; Puura, Kaija ; Waltes, Regina ; Chiocchetti, Andreas G. ; Freitag, Christine M. ; Satterstrom, F. Kyle ; De Rubeis, Silvia ; Buxbaum, Joseph ; Gelb, Bruce D. ; Branko, Aleksic ; Kushima, Itaru ; Howe, Jennifer ; Scherer, Stephen W. ; Arado, Alessia ; Baldo, Chiara ; Patat, Olivier ; Bénédicte, Demeer ; Lopergolo, Diego ; Santorelli, Filippo M. ; Haack, Tobias B. ; Dufke, Andreas ; Bertrand, Miriam ; Falb, Ruth J. ; Rieß, Angelika ; Krieg, Peter ; Spranger, Stephanie ; Bedeschi, Maria Francesca ; Iascone, Maria ; Josephi-Taylor, Sarah ; Roscioli, Tony ; Buckley, Michael F. ; Liebelt, Jan ; Dagli, Aditi I. ; Aten, Emmelien ; Hurst, Anna C.E. ; Hicks, Alesha ; Suri, Mohnish ; Aliu, Ermal ; Naik, Sunil ; Sidlow, Richard ; Coursimault, Juliette ; Nicolas, Gaël ; Küpper, Hanna ; Petit, Florence ; Ibrahim, Veyan ; Top, Deniz ; Di Cara, Francesca ; Louie, Raymond J. ; Stolerman, Elliot ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kramer, Jamie M. ; Kleefstra, Tjitske

In The American Journal of Human Genetics 1 June 2023 110(6):963-978

Hiatt, Susan M. ; Trajkova, Slavica ; Sebastiano, Matteo Rossi ; Partridge, E. Christopher ; Abidi, Fatima E. ; Anderson, Ashlyn ; Ansar, Muhammad ; Antonarakis, Stylianos E. ; Azadi, Azadeh ; Bachmann-Gagescu, Ruxandra ; Bartuli, Andrea ; Benech, Caroline ; Berkowitz, Jennifer L. ; Betti, Michael J. ; Brusco, Alfredo ; Cannon, Ashley ; Caron, Giulia ; Chen, Yanmin ; Cochran, Meagan E. ; Coleman, Tanner F. ; Crenshaw, Molly M. ; Cuisset, Laurence ; Curry, Cynthia J. ; Darvish, Hossein ; Demirdas, Serwet ; Descartes, Maria ; Douglas, Jessica ; Dyment, David A. ; Elloumi, Houda Zghal ; Ermondi, Giuseppe ; Faoucher, Marie ; Farrow, Emily G. ; Felker, Stephanie A. ; Fisher, Heather ; Hurst, Anna C.E. ; Joset, Pascal ; Kelly, Melissa A. ; Kmoch, Stanislav ; Leadem, Benjamin R. ; Lyons, Michael J. ; Macchiaiolo, Marina ; Magner, Martin ; Mandrile, Giorgia ; Mattioli, Francesca ; McEown, Megan ; Meadows, Sarah K. ; Medne, Livija ; Meeks, Naomi J.L. ; Montgomery, Sarah ; Napier, Melanie P. ; Natowicz, Marvin ; Newberry, Kimberly M. ; Niceta, Marcello ; Noskova, Lenka ; Nowak, Catherine B. ; Noyes, Amanda G. ; Osmond, Matthew ; Prijoles, Eloise J. ; Pugh, Jada ; Pullano, Verdiana ; Quélin, Chloé ; Rahimi-Aliabadi, Simin ; Rauch, Anita ; Redon, Sylvia ; Reymond, Alexandre ; Schwager, Caitlin R. ; Sellars, Elizabeth A. ; Scheuerle, Angela E. ; Shukarova-Angelovska, Elena ; Skraban, Cara ; Stolerman, Elliot ; Sullivan, Bonnie R. ; Tartaglia, Marco ; Thiffault, Isabelle ; Uguen, Kevin ; Umaña, Luis A. ; van Bever, Yolande ; van der Crabben, Saskia N. ; van Slegtenhorst, Marjon A. ; Waisfisz, Quinten ; Washington, Camerun ; Rodan, Lance H. ; Myers, Richard M. ; Cooper, Gregory M.

In The American Journal of Human Genetics 2 February 2023 110(2):215-227

Asif, Maria ; Kaygusuz, Emrah ; Shinawi, Marwan ; Nickelsen, Anna ; Hsieh, Tzung-Chien ; Wagle, Prerana ; Budde, Birgit S. ; Hochscherf, Jennifer ; Abdullah, Uzma ; Höning, Stefan ; Nienberg, Christian ; Lindenblatt, Dirk ; Noegel, Angelika A. ; Altmüller, Janine ; Thiele, Holger ; Motameny, Susanne ; Fleischer, Nicole ; Segal, Idan ; Pais, Lynn ; Tinschert, Sigrid ; Samra, Nadra Nasser ; Savatt, Juliann M. ; Rudy, Natasha L. ; De Luca, Chiara ; Paola Fortugno ; White, Susan M. ; Krawitz, Peter ; Hurst, Anna C.E. ; Niefind, Karsten ; Jose, Joachim ; Brancati, Francesco ; Nürnberg, Peter ; Hussain, Muhammad Sajid

In Human Genetics and Genomics Advances 14 July 2022 3(3)

Bowling, Kevin M. ; Thompson, Michelle L. ; Finnila, Candice R. ; Hiatt, Susan M. ; Latner, Donald R. ; Amaral, Michelle D. ; Lawlor, James M.J. ; East, Kelly M. ; Cochran, Meagan E. ; Greve, Veronica ; Kelley, Whitley V. ; Gray, David E. ; Felker, Stephanie A. ; Meddaugh, Hannah ; Cannon, Ashley ; Luedecke, Amanda ; Jackson, Kelly E. ; Hendon, Laura G. ; Janani, Hillary M. ; Johnston, Marla ; Merin, Lee Ann ; Deans, Sarah L. ; Tuura, Carly ; Williams, Heather ; Laborde, Kelly ; Neu, Matthew B. ; Patrick-Esteve, Jessica ; Hurst, Anna C.E. ; Kandasamy, Jegen ; Carlo, Wally ; Brothers, Kyle B. ; Kirmse, Brian M. ; Savich, Renate ; Superneau, Duane ; Spedale, Steven B. ; Knight, Sara J. ; Barsh, Gregory S. ; Korf, Bruce R. ; Cooper, Gregory M.

In Genetics in Medicine April 2022 24(4):851-861

Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia ; Hiatt, Susan M. ; Rustad, Cecilie F. ; Brown, Natasha J. ; Earl, Dawn L. ; Keren, Boris ; Levchenko, Olga ; Geuer, Sinje ; Verheyen, Sarah ; Johnson, Diana ; Zarate, Yuri A. ; Hančárová, Miroslava ; Amor, David J. ; Bebin, E. Martina ; Blatterer, Jasmin ; Brusco, Alfredo ; Cappuccio, Gerarda ; Charrow, Joel ; Chatron, Nicolas ; Cooper, Gregory M. ; Courtin, Thomas ; Dadali, Elena ; Delafontaine, Julien ; Del Giudice, Ennio ; Doco, Martine ; Douglas, Ganka ; Eisenkölbl, Astrid ; Funari, Tara ; Giannuzzi, Giuliana ; Gruber-Sedlmayr, Ursula ; Guex, Nicolas ; Heron, Delphine ; Holla, Øystein L. ; Hurst, Anna C.E. ; Juusola, Jane ; Kronn, David ; Lavrov, Alexander ; Lee, Crystle ; Lorrain, Séverine ; Merckoll, Else ; Mikhaleva, Anna ; Norman, Jennifer ; Pradervand, Sylvain ; Prchalová, Darina ; Rhodes, Lindsay ; Sanders, Victoria R. ; Sedláček, Zdeněk ; Seebacher, Heidelis A. ; Sellars, Elizabeth A. ; Sirchia, Fabio ; Takenouchi, Toshiki ; Tanaka, Akemi J. ; Taska-Tench, Heidi ; Tønne, Elin ; Tveten, Kristian ; Vitiello, Giuseppina ; Vlčková, Markéta ; Uehara, Tomoko ; Nava, Caroline ; Yalcin, Binnaz ; Kosaki, Kenjiro ; Donnai, Dian ; Mundlos, Stefan ; Brunetti-Pierri, Nicola ; Chung, Wendy K. ; Reymond, Alexandre

In The American Journal of Human Genetics 6 May 2021 108(5):857-873

Rodríguez-Palmero, Agustí ; Boerrigter, Melissa Maria ; Gómez-Andrés, David ; Aldinger, Kimberly A. ; Marcos-Alcalde, Íñigo ; Popp, Bernt ; Everman, David B. ; Lovgren, Alysia Kern ; Arpin, Stephanie ; Bahrambeigi, Vahid ; Beunders, Gea ; Bisgaard, Anne-Marie ; Bjerregaard, V.A. ; Bruel, Ange-Line ; Challman, Thomas D. ; Cogné, Benjamin ; Coubes, Christine ; de Man, Stella A. ; Denommé-Pichon, Anne-Sophie ; Dye, Thomas J. ; Elmslie, Frances ; Feuk, Lars ; García-Miñaúr, Sixto ; Gertler, Tracy ; Giorgio, Elisa ; Gruchy, Nicolas ; Haack, Tobias B. ; Haldeman-Englert, Chad R. ; Haukanes, Bjørn Ivar ; Hoyer, Juliane ; Hurst, Anna C.E. ; Isidor, Bertrand ; Soller, Maria Johansson ; Kushary, Sulagna ; Kvarnung, Malin ; Landau, Yuval E. ; Leppig, Kathleen A. ; Lindstrand, Anna ; Kleinendorst, Lotte ; MacKenzie, Alex ; Mandrile, Giorgia ; Mendelsohn, Bryce A. ; Moghadasi, Setareh ; Morton, Jenny E. ; Moutton, Sebastien ; Müller, Amelie J. ; O’Leary, Melanie ; Pacio-Míguez, Marta ; Palomares-Bralo, Maria ; Parikh, Sumit ; Pfundt, Rolph ; Pode-Shakked, Ben ; Rauch, Anita ; Repnikova, Elena ; Revah-Politi, Anya ; Ross, Meredith J. ; Ruivenkamp, Claudia A.L. ; Sarrazin, Elisabeth ; Savatt, Juliann M. ; Schlüter, Agatha ; Schönewolf-Greulich, Bitten ; Shad, Zohra ; Shaw-Smith, Charles ; Shieh, Joseph T. ; Shohat, Motti ; Spranger, Stephanie ; Thiese, Heidi ; Mau-Them, Frederic Tran ; van Bon, Bregje ; van de Burgt, Ineke ; van de Laar, Ingrid M.B.H. ; van Drie, Esmée ; van Haelst, Mieke M. ; van Ravenswaaij-Arts, Conny M. ; Verdura, Edgard ; Vitobello, Antonio ; Waldmüller, Stephan ; Whiting, Sharon ; Zweier, Christiane ; Prada, Carlos E. ; de Vries, Bert B.A. ; Dobyns, William B. ; Reiter, Simone F. ; Gómez-Puertas, Paulino ; Pujol, Aurora ; Tümer, Zeynep

In Genetics in Medicine May 2021 23(5):888-899

Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne ; Edwards, Matthew ; de Pontual, Loïc ; Mittal, Kirti ; Dunn, Kyla E. ; Grove, Megan E. ; Tysoe, Carolyn J. ; Dimartino, Clémantine ; Cameron, Jessie ; Kanthi, Anil ; Shukla, Anju ; van den Broek, Florence ; Chatterjee, Diptendu ; Alston, Charlotte L. ; Knowles, Charlotte V. ; Brett, Laura ; Till, Jan A. ; Homfray, Tessa ; French, Paul ; Spentzou, Georgia ; Elserafy, Noha A. ; Lichkus, Kate S. ; Sankaran, Bindu P. ; Kennedy, Hannah L. ; George, Peter M. ; Kidd, Alexa ; Wortmann, Saskia B. ; Fisk, Dianna G. ; Koopmann, Tamara T. ; Rafiq, Muhammad A. ; Merker, Jason D. ; Parikh, Sumith ; Ahimaz, Priyanka ; Weintraub, Robert G. ; Ma, Alan S. ; Turner, Christian ; Ellaway, Carolyn J. ; Phillips, Liza K. ; Thorburn, David R. ; Chung, Wendy K. ; Kana, Sajel L. ; Faye-Petersen, Ona M. ; Thompson, Michelle L. ; Janin, Alexandre ; McLeod, Karen ; McGowan, Ruth ; McFarland, Robert ; Girisha, Katta M. ; Morris-Rosendahl, Deborah J. ; Hurst, Anna C.E. ; Turner, Claire L.S. ; Hamilton, Robert M. ; Taylor, Robert W. ; Bajolle, Fanny ; Gordon, Christopher T. ; Amiel, Jeanne ; Mayr, Johannes A. ; Doudney, Kit

In Genetics in Medicine December 2021 23(12):2415-2425

East, Kelly M. ; Kelley, Whitley V. ; Cannon, Ashley ; Cochran, Meagan E. ; Moss, Irene P. ; May, Thomas ; Nakano-Okuno, Mariko ; Sodeke, Stephen O. ; Edberg, Jeffrey C. ; Cimino, James J. ; Fouad, Mona ; Curry, William A. ; Hurst, Anna C.E. ; Bowling, Kevin M. ; Thompson, Michelle L. ; Bebin, E. Martina ; Johnson, Robert D. ; Acemgil, Aras ; Crossman, David K. ; Finnila, Candice R. ; Gray, David E. ; Greve, Veronica ; Hardy, Sharonda ; Hiatt, Susan M. ; Latner, Donald R. ; Lawlor, James M.J. ; Miskell, Edrika L. ; Narmore, Whitney ; Schach, Julie H. ; Cooper, Gregory M. ; Might, Matthew ; Barsh, Gregory S. ; Korf, Bruce R.

In Genetics in Medicine April 2021 23(4):777-781

Bowling, Kevin M. ; Thompson, Michelle L. ; Gray, David E. ; Lawlor, James M.J. ; Williams, Kelly ; East, Kelly M. ; Kelley, Whitley V. ; Moss, Irene P. ; Absher, Devin M. ; Partridge, E.Christopher ; Hurst, Anna C.E. ; Edberg, Jeffrey C. ; Barsh, Gregory S. ; Korf, Bruce R. ; Cooper, Gregory M.

In Genetics in Medicine February 2021 23(2):280-288

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G.M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O’Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Møller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange Line; Quelin, Chloé; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C.E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Mau-Them, Frederic Tran; Garcia Moya, Luis Fernandez; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B.A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L, Quelin, C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T, Garcia Moya, L F, García-Miñaúr, S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C, Sanchez-Valle, A, Kelley, M, Nizon, M, Jensson, B O, Sulem, P, Stefansson, K, Gorokhova, S, Busa, T, Rio, M, Habdallah, H H, Lesieur-Sebellin, M, Amiel, J, Pingault, V, Mercier, S, Vincent, M, Philippe, C, Fatus-Fauconnier, C, Friend, K, Halligan, R K, Biswas, S, Rosser, J, Shoubridge, C, Corbett, M, Barnett, C, Gecz, J, Leppig, K, Slavotinek, A, Marcelis, C, Pfundt, R, de Vries, B B A, van Slegtenhorst, M A, Brooks, A S, Cogne, B, Rambaud, T, Tümer, Z, Zackai, E H, Akizu, N, Song, Y & Hakonarson, H 2024, 'Spliceosome malfunction causes neurodevelopmental disorders with overlapping features', Journa

Genetica; Genetica Sectie Research; Cancer; Child Health; Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G.M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O’Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Møller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange Line; Quelin, Chloé; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C.E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Mau-Them, Frederic Tran; Garcia Moya, Luis Fernandez; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B.A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Ashraf, Ambika P., MBBS, MD; Hurst, Anna C.E., MD, MS; Garg, Abhimanyu, MD

Journal of Clinical Lipidology. 11(3):757-762

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eBioMedicine. 87

Gooch, Catherine; Robin, Nathaniel H.; Hurst, Anna C.E.

Current Opinion in Pediatrics. Aug 05, 2019