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Journal of medical genetics, 2023-06, Vol.60 (6), p.523
2023
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Advances in experimental medicine and biology, 2007, Vol.597, p.32
2007
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Clinical genetics, 2021-03, Vol.99 (3), p.335-346
2021
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American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2984-2987
2016
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Clinical parkinsonism & related disorders, 2021-01, Vol.5, p.100114-100114, Article 100114
2021
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Clinical genetics, 2024-04, Vol.105 (4), p.386-396
2024
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Journal of neurology, 2022-04, Vol.269 (4), p.2162-2171
2022
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American journal of human genetics, 2019-02, Vol.104 (2), p.287-298
- 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.
2019
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Scientific reports, 2022-10, Vol.12 (1), p.17182-17182, Article 17182
2022
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Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1373-1387
- AlAbdi, Lama
- Desbois, Muriel
- Rusnac, Domniţa-Valeria
- Sulaiman, Raashda A
- Rosenfeld, Jill A
- Lalani, Seema
- Murdock, David R
- Burrage, Lindsay C
- Billie Au, Ping Yee
- Towner, Shelley
- Wilson, William G
- Wong, Lawrence
- Brunet, Theresa
- Strobl-Wildemann, Gertrud
- Burton, Jennifer E
- Hoganson, George
- McWalter, Kirsty
- Begtrup, Amber
- Zarate, Yuri A
- Christensen, Elyse L
- Opperman, Karla J
- Giles, Andrew C
- Helaby, Rana
- Kania, Artur
- Zheng, Ning
- Grill, Brock
- Alkuraya, Fowzan S
2023
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Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595
- Chrystal, Paul W
- Lambacher, Nils J
- Doucette, Lance P
- Bellingham, James
- Schiff, Elena R
- Noel, Nicole C L
- Li, Chunmei
- Tsiropoulou, Sofia
- Casey, Geoffrey A
- Zhai, Yi
- Nadolski, Nathan J
- Majumder, Mohammed H
- Tagoe, Julia
- D'Esposito, Fabiana
- Cordeiro, Maria Francesca
- Downes, Susan
- Clayton-Smith, Jill
- Ellingford, Jamie
- Mahroo, Omar A
- Hocking, Jennifer C
- Cheetham, Michael E
- Webster, Andrew R
- Jansen, Gert
- Blacque, Oliver E
- Allison, W Ted
- Au, Ping Yee Billie
- MacDonald, Ian M
- Arno, Gavin
- Leroux, Michel R
2022
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Frontiers in genetics, 2022-01, Vol.13, p.815210
2022
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Neurogenetics, 2021-10, Vol.22 (4), p.263-269
2021
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Epilepsia open, 2023-06, Vol.8 (2), p.497-508
2023
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100116, Article 100116
2023
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American journal of medical genetics. Part A, 2024-05, p.e63625
2024
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Biophysical journal, 2022-02, Vol.121 (3), p.96a-96a
2022
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Journal of neurophysiology, 2022-05, Vol.127 (5), p.1388-1397
2022
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Brain (London, England : 1878), 2023-02, Vol.146 (2), p.534-548
- Pavinato, Lisa
- Delle Vedove, Andrea
- Carli, Diana
- Ferrero, Marta
- Carestiato, Silvia
- Howe, Jennifer L
- Agolini, Emanuele
- Coviello, Domenico A
- van de Laar, Ingrid
- Au, Ping Yee Billie
- Di Gregorio, Eleonora
- Fabbiani, Alessandra
- Croci, Susanna
- Mencarelli, Maria Antonietta
- Bruno, Lucia P
- Renieri, Alessandra
- Veltra, Danai
- Sofocleous, Christalena
- Faivre, Laurence
- Mazel, Benoit
- Safraou, Hana
- Denommé-Pichon, Anne-Sophie
- van Slegtenhorst, Marjon A
- Giesbertz, Noor
- van Jaarsveld, Richard H
- Childers, Anna
- Rogers, R Curtis
- Novelli, Antonio
- De Rubeis, Silvia
- Buxbaum, Joseph D
- Scherer, Stephen W
- Ferrero, Giovanni Battista
- Wirth, Brunhilde
- Brusco, Alfredo
2023
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Human molecular genetics, 2020-07, Vol.29 (11), p.1900-1921
- Alharatani, Reham
- Ververi, Athina
- Beleza-Meireles, Ana
- Ji, Weizhen
- Mis, Emily
- Patterson, Quinten T
- Griffin, John N
- Bhujel, Nabina
- Chang, Caitlin A
- Dixit, Abhijit
- Konstantino, Monica
- Healy, Christopher
- Hannan, Sumayyah
- Neo, Natsuko
- Cash, Alex
- Li, Dong
- Bhoj, Elizabeth
- Zackai, Elaine H
- Cleaver, Ruth
- Baralle, Diana
- McEntagart, Meriel
- Newbury-Ecob, Ruth
- Scott, Richard
- Hurst, Jane A
- Au, Ping Yee Billie
- Hosey, Marie Therese
- Khokha, Mustafa
- Marciano, Denise K
- Lakhani, Saquib A
- Liu, Karen J
2020
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Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1837-1855
- Rinaldi, Berardo
- Bayat, Allan
- Zachariassen, Linda G
- Sun, Jia-Hui
- Ge, Yu-Han
- Zhao, Dan
- Bonde, Kristine
- Madsen, Laura H
- Awad, Ilham Abdimunim Ali
- Bagiran, Duygu
- Sbeih, Amal
- Shah, Syeda Maidah
- El-Sayed, Shaymaa
- Lyngby, Signe M
- Pedersen, Miriam G
- Stenum-Berg, Charlotte
- Walker, Louise Claudia
- Krey, Ilona
- Delahaye-Duriez, Andrée
- Emrick, Lisa T
- Sully, Krystal
- Murali, Chaya N
- Burrage, Lindsay C
- Plaud Gonzalez, Julie Ana
- Parnes, Mered
- Friedman, Jennifer
- Isidor, Bertrand
- Lefranc, Jérémie
- Redon, Sylvia
- Heron, Delphine
- Mignot, Cyril
- Keren, Boris
- Fradin, Mélanie
- Dubourg, Christele
- Mercier, Sandra
- Besnard, Thomas
- Cogne, Benjamin
- Deb, Wallid
- Rivier, Clotilde
- Milani, Donatella
- Bedeschi, Maria Francesca
- Di Napoli, Claudia
- Grilli, Federico
- Marchisio, Paola
- Koudijs, Suzanna
- Veenma, Danielle
- Argilli, Emanuela
- Lynch, Sally Ann
- Au, Ping Yee Billie
- Ayala Valenzuela, Fernando Eduardo
- Brown, Carolyn
- Masser-Frye, Diane
- Jones, Marilyn
- Patron Romero, Leslie
- Li, Wenhui Laura
- Thorpe, Erin
- Hecher, Laura
- Johannsen, Jessika
- Denecke, Jonas
- McNiven, Vanda
- Szuto, Anna
- Wakeling, Emma
- Cruz, Vincent
- Sency, Valerie
- Wang, Heng
- Piard, Juliette
- Kortüm, Fanny
- Herget, Theresia
- Bierhals, Tatjana
- Condell, Angelo
- Ben-Zeev, Bruria
- Kaur, Simranpreet
- Christodoulou, John
- Piton, Amelie
- Zweier, Christiane
- Kraus, Cornelia
- Micalizzi, Alessia
- Trivisano, Marina
- Specchio, Nicola
- Lesca, Gaetan
- Møller, Rikke S
- Tümer, Zeynep
- Musgaard, Maria
- Gerard, Benedicte
- Lemke, Johannes R
- Shi, Yun Stone
- Kristensen, Anders S
2024
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Human genetics, 2021-07, Vol.140 (7), p.1109-1120
- 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
2021
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American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1649-1665
- Sheppard, Sarah E.
- Campbell, Ian M.
- Harr, Margaret H.
- Gold, Nina
- Li, Dong
- Bjornsson, Hans T.
- Cohen, Julie S.
- Fahrner, Jill A.
- Fatemi, Ali
- Harris, Jacqueline R.
- Nowak, Catherine
- Stevens, Cathy A.
- Grand, Katheryn
- Au, Margaret
- Graham, John M.
- Sanchez‐Lara, Pedro A.
- Campo, Miguel Del
- Jones, Marilyn C.
- Abdul‐Rahman, Omar
- Bassetti, Jennifer A.
- Bergstrom, Katherine
- Bhoj, Elizabeth
- Dugan, Sarah
- Kaplan, Julie D.
- Derar, Nada
- Gripp, Karen W.
- Hauser, Natalie
- Innes, A. Micheil
- Keena, Beth
- Kodra, Neslida
- Miller, Rebecca
- Nelson, Beverly
- Nowaczyk, Malgorzata J.
- Rahbeeni, Zuhair
- Ben‐Shachar, Shay
- Shieh, Joseph T.
- Slavotinek, Anne
- Sobering, Andrew K.
- Abbott, Mary‐Alice
- Allain, Dawn C.
- Amlie‐Wolf, Louise
- Au, Ping Yee Billie
- Bedoukian, Emma
- Beek, Geoffrey
- Barry, James
- Berg, Janet
- Bernstein, Jonathan A.
- Cytrynbaum, Cheryl
- Chung, Brian Hon‐Yin
- Donoghue, Sarah
- Dorrani, Naghmeh
- Eaton, Alison
- Flores‐Daboub, Josue A.
- Dubbs, Holly
- Felix, Carolyn A.
- Fong, Chin‐To
- Fung, Jasmine Lee Fong
- Gangaram, Balram
- Goldstein, Amy
- Greenberg, Rotem
- Ha, Thoa K.
- Hersh, Joseph
- Izumi, Kosuke
- Kravets, Elijah
- Kwok, Pui‐Yan
- Jobling, Rebekah K.
- Knight Johnson, Amy E.
- Kushner, Jessica
- Lee, Bo Hoon
- Levin, Brooke
- Lindstrom, Kristin
- Manickam, Kandamurugu
- Mardach, Rebecca
- McCormick, Elizabeth
- McLeod, D. Ross
- Mentch, Frank D.
- Minks, Kelly
- Muraresku, Colleen
- Nelson, Stanley F.
- Porazzi, Patrizia
- Pichurin, Pavel N.
- Powell‐Hamilton, Nina N.
- Powis, Zoe
- Ritter, Alyssa
- Rogers, Caleb
- Rohena, Luis
- Ronspies, Carey
- Schroeder, Audrey
- Stark, Zornitza
- Starr, Lois
- Stoler, Joan
- Suwannarat, Pim
- Velinov, Milen
- Weksberg, Rosanna
- Wilnai, Yael
- Zadeh, Neda
- Falk, Marni J.
- Hakonarson, Hakon
- Zackai, Elaine H.
- Quintero‐Rivera, Fabiola
2021
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Seizure (London, England), 2023-08, Vol.110, p.212-219
2023
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Scientific reports, 2022-10, Vol.12 (1), p.17182
2022
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