학술논문
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'학술논문'
에서 검색결과 66건 | 목록
1~20
Academic Journal
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. 27(10):936-944
Academic Journal
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)
Academic Journal
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)
Academic Journal
Rots, Dmitrijs; Jakub, Taryn; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B.A.; van Jaarsveld, Richard; 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; Stevenson, Roger; Everman, David; Patterson, Wesley; Meng, Linyan; Gijavanekar, Charul; de Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio; Almeida, Pedro; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen; Garavelli, Livia; Caraffi, Stefano; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tiller, George; Bosch, Daniëlle G.M.; Potgieter, Stephanus; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas; Freitag, Christine; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo; Haack, Tobias; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael; Liebelt, Jan; Dagli, Aditi; 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; Stolerman, Elliot; Brunner, Han; Vissers, Lisenka E.L.M.; Kramer, Jamie; Kleefstra, Tjitske
American Journal of Human Genetics, 110, 6, pp. 963-978
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R, de Vries, B B A, van Jaarsveld, R H, Hopman, S M J, van Binsbergen, E, Valenzuela, I, Hempel, M, Bierhals, T, Kortüm, F, Lecoquierre, F, Goldenberg, A, Hertz, J M, Andersen, C B, Kibæk, M, Prijoles, E J, Stevenson, R E, Everman, D B, Patterson, W G, Meng, L, Gijavanekar, C, De Dios, K, Lakhani, S, Levy, T, Wagner, M, Wieczorek, D, Benke, P J, Lopez Garcia, M S, Perrier, R, Sousa, S B, Simões, M J, Isidor, B, Deb, W, Schmanski, A A, Abdul-Rahman, O, Philippe, C, Bruel, A-L, Faivre, L, Vitobello, A, Thauvin, C, Smits, J J, Garavelli, L, Caraffi, S G, Peluso, F, Davis-Keppen, L & Douzgou, S 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 6, pp. 963-978. https://doi.org/10.1016/j.ajhg.2023.04.008
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R, de Vries, B B A, van Jaarsveld, R H, Hopman, S M J, van Binsbergen, E, Valenzuela, I, Hempel, M, Bierhals, T, Kortüm, F, Lecoquierre, F, Goldenberg, A, Hertz, J M, Andersen, C B, Kibæk, M, Prijoles, E J, Stevenson, R E, Everman, D B, Patterson, W G, Meng, L, Gijavanekar, C, De Dios, K, Lakhani, S, Levy, T, Wagner, M, Wieczorek, D, Benke, P J, Lopez Garcia, M S, Perrier, R, Sousa, S B, Simões, M J, Isidor, B, Deb, W, Schmanski, A A, Abdul-Rahman, O, Philippe, C, Bruel, A-L, Faivre, L, Vitobello, A, Thauvin, C, Smits, J J, Garavelli, L, Caraffi, S G, Peluso, F, Davis-Keppen, L & Douzgou, S 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 6, pp. 963-978. https://doi.org/10.1016/j.ajhg.2023.04.008
Academic Journal
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)
Academic Journal
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)
Academic Journal
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)
Academic Journal
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
Academic Journal
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)
Academic Journal
Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M.S.; Giltay, Jacques; Cogné, Benjamin; Mcwalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda; Wentzensen, Ingrid; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans; Faurie, Eva; Schot, Rachel; Stevens, Cathy; Smits, Daphne; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan; Stimach, Chandler; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard; Hurst, Anna C.E.; Smith, Kirstin; Baugh, Evan; Bohm, Suzanne; Vyhnálková, Emílie; Ryba, Lukáš; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, F; Berger, Seth; Smith, Ann C.M.; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krüger, Elke; Margueron, Raphaël; Bézieau, Stéphane; Poschmann, Jeremie; Isidor, Bertrand
The American Journal of Human Genetics. 109:361-372
Academic Journal
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
Academic Journal
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
Academic Journal
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
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
The Journal of Clinical Investigation, Vol 134, Iss 1 (2024)
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Academic Journal
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
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Academic Journal
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
Academic Journal
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
Neonatal management of achondroplasia: one hospitalʼs geosocial approach to improve patient outcomes
Academic Journal
Current Opinion in Pediatrics. Aug 05, 2019
Academic Journal
Journal of Clinical Lipidology. 11(3):757-762
Academic Journal
Kazamel, Mohamed; Lopez, Michael A.; Bebin, Martina; Bowling, Kevin; Korf, Bruce R.; Barsh, Gregory S.; Cooper, Gregory M.; Hurst, Anna C.E.; Ubogu, Eroboghene E.
Neurology: Genetics. Aug 01, 2020 6(4):e476-e476
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