학술논문
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Academic Journal
Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Jamra, Rami Abou; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; McGinnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A.R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W.E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, André; Accogli, Andrea; Vasileiou, Georgia
In Genetics in Medicine November 2023 25(11)
Academic Journal
Bamshad, Michael J.; Leal, Suzanne M.; Nickerson, Deborah A.; Anderson, Peter; Bacus, Tamara J.; Blue, Elizabeth E.; Brower, Katherine; Buckingham, Kati J.; Chong, Jessica X.; Cornejo Sánchez, Diana; Davis, Colleen P.; Davis, Chayna J.; Frazar, Christian D.; Gomeztagle-Burgess, Katherine; Gordon, William W.; Horike-Pyne, Martha; Hurless, Jameson R.; Jarvik, Gail P.; Johanson, Eric; Thomas Kolar, J.; Marvin, Colby T.; McGee, Sean; McGoldrick, Daniel J.; Mekonnen, Betselote; Nielsen, Patrick M.; Patterson, Karynne; Radhakrishnan, Aparna; Richardson, Matthew A.; Roote, Gwendolin T.; Ryke, Erica L.; Schrauwen, Isabelle; Shively, Kathryn M.; Smith, Joshua D.; Tackett, Monica; Wang, Gao; Weiss, Jeffrey M.; Wheeler, Marsha M.; Yi, Qian; Zhang, Xiaohong; Esterhuizen, Alina I.; Tiffin, Nicki; Riordan, Gillian; Wessels, Marie; Burman, Richard J.; Aziz, Miriam C.; Calhoun, Jeffrey D.; Gunti, Jonathan; Amiri, Ezra E.; Ramamurthy, Aishwarya; Mefford, Heather C.; Ramesar, Raj; Wilmshurst, Jo M.; Carvill, Gemma L.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M.; Dombrowsky, Gregor; Williams, Simon G.; Lesurf, Robert; Tjong, Fleur V.Y.; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M.; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Hitz, Marc-Phillip; Abdul-Khaliq, Hashim; Berger, Felix; Dähnert, Ingo; Dittrich, Sven; Uebing, Anselm; Stiller, Brigitte; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A.; Mulder, Barbara J.; Mefford, Heather C.; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E.; Roberts, Amy; Lodder, Elisabeth M.; Keavney, Bernard D.; Clur, Sally-Ann B.; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M.; Postma, Alex V.; Bezzina, Connie R.
In Genetics in Medicine October 2021 23(10):1952-1960
Academic Journal
Freed, Amanda S.; Clowes Candadai, Sarah V.; Sikes, Megan C.; Thies, Jenny; Byers, Heather M.; Dines, Jennifer N.; Ndugga-Kabuye, Mesaki Kenneth; Smith, Mallory B.; Fogus, Katie; Mefford, Heather C.; Lam, Christina; Adam, Margaret P.; Sun, Angela; McGuire, John K.; DiGeronimo, Robert; Dipple, Katrina M.; Deutsch, Gail H.; Billimoria, Zeenia C.; Bennett, James T.
In The Journal of Pediatrics November 2020 226:202-212
Academic Journal
Beighley, Jennifer S.; Hudac, Caitlin M.; Arnett, Anne B.; Peterson, Jessica L.; Gerdts, Jennifer; Wallace, Arianne S.; Mefford, Heather C.; Hoekzema, Kendra; Turner, Tychele N.; O’Roak, Brian J.; Eichler, Evan E.; Bernier, Raphael A.
In Biological Psychiatry 15 January 2020 87(2):123-131
Academic Journal
Sadleir, Lynette G.; Kolc, Kristy L.; King, Chontelle; Mefford, Heather C.; Dale, Russell C.; Gecz, Jozef; Scheffer, Ingrid E.
In European Journal of Paediatric Neurology January 2020 24:142-147
Academic Journal
Nyaga, Denis M.; Hildebrand, Michael S.; Valles‐Ibáñez, Guillem; Keenan, Ngaire F.; Ye, Zimeng; Laflamme, Christy W.; Mefford, Heather C.; Bennett, Mark F.; Bahlo, Melanie; Sadleir, Lynette G.
Epilepsia Open. April, 2024, Vol. 9 Issue 2, p758, 7 p.
Academic Journal
Ye, Zimeng; McQuillan, Lara; Poduri, Annapurna; Green, Timothy E.; Matsumoto, Naomichi; Mefford, Heather C.; Scheffer, Ingrid E.; Berkovic, Samuel F.; Hildebrand, Michael S.
In Epilepsy Research September 2019 155
Academic Journal
Ellis, Colin A.; Oliver, Karen L.; Harris, Rebekah V.; Ottman, Ruth; Scheffer, Ingrid E.; Mefford, Heather C.; Epstein, Michael P.; Berkovic, Samuel F.; Bahlo, Melanie
Academic Journal
Ellis, Colin A.; Tu, Danni; Oliver, Karen L.; Mefford, Heather C.; Hauser, W. Allen; Buchhalter, Jeffrey; Epstein, Michael P.; Cao, Quy; Berkovic, Samuel F.; Ottman, Ruth
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