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De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
2018
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Pathogenic in-Frame Variants in SCN8A : Expanding the Genetic Landscape of SCN8A- Associated Disease
2021
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Pediatric neurology, 2017-12, Vol.77, p.61-66
2017
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Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1917-n/a
2022
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Epilepsia (Copenhagen), 2018-09, Vol.59 (9), p.e135-e141
2018
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Epilepsy research, 2017-01, Vol.129, p.17-25
2017
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American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1572-1577
2022
Link zum Volltext
Case reports in genetics, 2018, Vol.2018, p.6308283-4
2018
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Genetics in medicine, 2022-04, Vol.24 (4), p.905-914
- Cherik, Florian
- Reilly, Jack
- Kerkhof, Jennifer
- Levy, Michael
- McConkey, Haley
- Barat-Houari, Mouna
- Butler, Kameryn M.
- Coubes, Christine
- Lee, Jennifer A.
- Le Guyader, Gwenael
- Louie, Raymond J.
- Patterson, Wesley G.
- Tedder, Matthew L.
- Bak, Mads
- Hammer, Trine Bjørg
- Craigen, William
- Démurger, Florence
- Dubourg, Christèle
- Fradin, Mélanie
- Franciskovich, Rachel
- Frengen, Eirik
- Friedman, Jennifer
- Palares, Nathalie Ruiz
- Iascone, Maria
- Misceo, Doriana
- Monin, Pauline
- Odent, Sylvie
- Philippe, Christophe
- Rouxel, Flavien
- Saletti, Veronica
- Strømme, Petter
- Thulin, Perla Cassayre
- Sadikovic, Bekim
- Genevieve, David
2022
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Clinical dysmorphology, 2021-10, Vol.30 (4), p.167
2021
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Genetics in medicine, 2023-01, Vol.25 (1), p.63-75
- Coenen-van der Spek, Jet
- Relator, Raissa
- Kerkhof, Jennifer
- McConkey, Haley
- Levy, Michael A.
- Tedder, Matthew L.
- Louie, Raymond J.
- Fletcher, Robin S.
- Moore, Hannah W.
- Childers, Anna
- Farrelly, Ellyn R.
- Champaigne, Neena L.
- Lyons, Michael J.
- Everman, David B.
- Rogers, R. Curtis
- Skinner, Steven A.
- Renck, Alicia
- Matalon, Dena R.
- Dills, Shelley K.
- Monteleone, Berrin
- Demirdas, Serwet
- Dingemans, Alexander J.M.
- Donker Kaat, Laura
- Kolk, Sharon M.
- Pfundt, Rolph
- Rump, Patrick
- Sadikovic, Bekim
- Kleefstra, Tjitske
- Butler, Kameryn M.
2023
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Genes, brain and behavior, 2020-04, Vol.19 (4), p.n/a
2020
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Genome medicine, 2024-05, Vol.16 (1), p.72-18, Article 72
- Bassani, Sissy
- Chrast, Jacqueline
- Ambrosini, Giovanna
- Voisin, Norine
- Schütz, Frédéric
- Brusco, Alfredo
- Sirchia, Fabio
- Turban, Lydia
- Schubert, Susanna
- Abou Jamra, Rami
- Schlump, Jan-Ulrich
- DeMille, Desiree
- Bayrak-Toydemir, Pinar
- Nelson, Gary Rex
- Wong, Kristen Nicole
- Duncan, Laura
- Mosera, Mackenzie
- Gilissen, Christian
- Vissers, Lisenka E L M
- Pfundt, Rolph
- Kersseboom, Rogier
- Yttervik, Hilde
- Hansen, Geir Åsmund Myge
- Smeland, Marie Falkenberg
- Butler, Kameryn M
- Lyons, Michael J
- Carvalho, Claudia M B
- Zhang, Chaofan
- Lupski, James R
- Potocki, Lorraine
- Flores-Gallegos, Leticia
- Morales-Toquero, Rodrigo
- Petit, Florence
- Yalcin, Binnaz
- Tuttle, Annabelle
- Elloumi, Houda Zghal
- McCormick, Lane
- Kukolich, Mary
- Klaas, Oliver
- Horvath, Judit
- Scala, Marcello
- Iacomino, Michele
- Operto, Francesca
- Zara, Federico
- Writzl, Karin
- Maver, Aleš
- Haanpää, Maria K
- Pohjola, Pia
- Arikka, Harri
- Kievit, Anneke J A
- Calandrini, Camilla
- Iseli, Christian
- Guex, Nicolas
- Reymond, Alexandre
2024
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Clinical dysmorphology, 2022-04, Vol.31 (2), p.91
2022
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Clinical genetics, 2021-10, Vol.100 (4), p.405-411
- Tenorio‐Castaño, Jair Antonio
- Arias, Pedro
- Fernández‐Jaén, Alberto
- Lay‐Son, Guillermo
- Bueno‐Lozano, Gloria
- Bayat, Allan
- Faivre, Laurence
- Gallego, Natalia
- Ramos, Sergio
- Butler, Kameryn M.
- Morel, Chantal
- Hadjiyannakis, Stasia
- Lespinasse, James
- Tran‐Mau‐Them, Frederic
- Santos‐Simarro, Fernando
- Pinson, Lucile
- Martínez‐Monseny, Antonio Federico
- O'Callaghan Cord, María del Mar
- Álvarez, Sara
- Stolerman, Elliot S.
- Washington, Camerun
- Ramos, Feliciano J.
- The S. O. G. R. I. Consortium
- Lapunzina, Pablo
2021
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Genes, brain and behavior, 2020-04, Vol.19 (4), p.e12612
2020
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Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108211, Article 108211
2024
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Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1357-1372
- Mattison, Kari A
- Tossing, Gilles
- Mulroe, Fred
- Simmons, Callum
- Butler, Kameryn M
- Schreiber, Alison
- Alsadah, Adnan
- Neilson, Derek E
- Naess, Karin
- Wedell, Anna
- Wredenberg, Anna
- Sorlin, Arthur
- McCann, Emma
- Burghel, George J
- Menendez, Beatriz
- Hoganson, George E
- Botto, Lorenzo D
- Filloux, Francis M
- Aledo-Serrano, Ángel
- Gil-Nagel, Antonio
- Tatton-Brown, Katrina
- Verbeek, Nienke E
- van der Zwaag, Bert
- Aleck, Kyrieckos A
- Fazenbaker, Andrew C
- Balciuniene, Jorune
- Dubbs, Holly A
- Marsh, Eric D
- Garber, Kathryn
- Ek, Jakob
- Duno, Morten
- Hoei-Hansen, Christina E
- Deardorff, Matthew A
- Raca, Gordana
- Quindipan, Catherine
- van Hirtum-Das, Michele
- Breckpot, Jeroen
- Hammer, Trine Bjørg
- Møller, Rikke S
- Whitney, Andrea
- Douglas, Andrew G L
- Kharbanda, Mira
- Brunetti-Pierri, Nicola
- Morleo, Manuela
- Nigro, Vincenzo
- May, Halie J
- Tao, James X
- Argilli, Emanuela
- Sherr, Elliot H
- Dobyns, William B
- Baines, Richard A
- Warwicker, Jim
- Parker, J Alex
- Banka, Siddharth
- Campeau, Philippe M
- Escayg, Andrew
2023
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Cancer genetics, 2021-04, Vol.252-253, p.S4-S4
2021
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Clinical kidney journal, 2024-07
2024
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Epilepsia (Copenhagen), 2018-09, Vol.59 (9)
2018
Link zum Volltext
Genes, brain and behavior, 2020-04, Vol.19 (4), p.e12612-e12612
2020
Link zum Volltext
American journal of medical genetics. Part A, 2022, Vol.188 (5), p.1572-1577
2022
Link zum Volltext
Case reports in genetics, 2018, Vol.2018, p.6308283-6308283
2018
Link zum Volltext
Molecular genetics and metabolism, 2021-04, Vol.132, p.S239-S239
2021
Link zum Volltext
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