Goodman Lindsey D, Cope Heidi, Nil Zelha, Ravenscroft Thomas A, Charng Wu-Lin, Lu Shenzhao, Tien An-Chi, Pfundt Rolph, Koolen David A, Haaxma Charlotte A, Veenstra-Knol Hermine E, Wassink-Ruiter Jolien S Klein, Wevers Marijke R, Jones Melissa, Walsh Laurence E, Klee Victoria H, Theunis Miel, Legius Eric, Steel Dora, Barwick Katy E S, Kurian Manju A, Mohammad Shekeeb S, Dale Russell C, Terhal Paulien A, van Binsbergen Ellen, Kirmse Brian, Robinette Bethany, Cogné Benjamin, Isidor Bertrand, Grebe Theresa A, Kulch Peggy, Hainline Bryan E, Sapp Katherine, Morava Eva, Klee Eric W, Macke Erica L, Trapane Pamela, Spencer Christopher, Si Yue, Begtrup Amber, Moulton Matthew J, Dutta Debdeep, Kanca Oguz, Wangler Michael F, Yamamoto Shinya, Bellen Hugo J, Tan Queenie K-G, 2 Sep 2021, In: American Journal of Human Genetics. 108 , p. 1669-1691 23 p.

Plug Marielle B., van Wijngaarden Vivian, de Wilde Hester, van Binsbergen Ellen, Stegeman Inge, van den Boogaard Marie José H., Smit Adriana L. 1 Jul 2021, In: Frontiers in Pediatrics. 9 , p. 1-10

Ernst Michelle E, Baugh Evan H, Thomas Amanda, Bier Louise, Lippa Natalie, Stong Nicholas, Mulhern Maureen S, Kushary Sulagna, Akman Cigdem I, Heinzen Erin L, Yeh Raymond, Bi Weimin, Hanchard Neil A, Burrage Lindsay C, Leduc Magalie S, Chong Josephine S C, Bend Renee, Lyons Michael J, Lee Jennifer A, Suwannarat Pim, Brilstra Eva, Simon Marleen, Koopmans Marije, van Binsbergen Ellen, Groepper Daniel, Fleischer Julie, Nava Caroline, Keren Boris, Mignot Cyril, Mathieu Sophie, Mancini Grazia M S, Madan-Khetarpal Suneeta, Infante Elena M, Bluvstein Judith, Seeley Andrea, Bachman Kristine, Klee Eric W, Schultz-Rogers Laura E, Hasadsri Linda, Barnett Sarah, Ellingson Marissa S, Ferber Matthew J, Narayanan Vinodh, Ramsey Keri, Rauch Anita, Joset Pascal, Steindl Katharina, Sheehan Theodore, Poduri Annapurna, Vasquez Alejandra, Ruivenkamp Claudia, White Susan M, Pais Lynn, Monaghan Kristin G, Goldstein David B, Sands Tristan T, Aggarwal Vimla Jul 2021, In: Epilepsia. 62 , p. e103-e109

Harris Holly K et al. Jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 1028-1040 13 p.

Djordjevic Djurdja, Pinard Maxime, Gauthier Marie-Soleil, Smith-Hicks Constance, Hoffman Trevor L, Wolf Nicole I, Oegema Renske, van Binsbergen Ellen, Baskin Berivan, Bernard Geneviève, Fribourg Sébastien, Coulombe Benoit, Yoon Grace 7 Jan 2021, In: American Journal of Human Genetics. 108 , p. 186-193 8 p.

Gripp Karen W, Smithson Sarah F, Scurr Ingrid J, Baptista Julia, Majumdar Anirban, Pierre Germaine, Williams Maggie, Henderson Lindsay B, Wentzensen Ingrid M, McLaughlin Heather, Leeuwen Lisette, Simon Marleen E H, van Binsbergen Ellen, Dinulos Mary Beth P, Kaplan Julie D, McRae Anne, Superti-Furga Andrea, Good Jean-Marc, Kutsche Kerstin 2021, In: European Journal of Human Genetics. 29 , p. 1384-1395 12 p.

Middelkamp Sjors, Vlaar Judith M, Giltay Jacques, Korzelius Jerome, Besselink Nicolle, Boymans Sander, Janssen Roel, de la Fonteijne Lisanne, van Binsbergen Ellen, van Roosmalen Markus J, Hochstenbach Ron, Giachino Daniela, Talkowski Michael E, Kloosterman Wigard P, Cuppen Edwin 4 Dec 2019, In: Genome Medicine. 11

Mirzaa Ghayda M, Chong Jessica X, Piton Amélie, Popp Bernt, Foss Kimberly, Guo Hui, Harripaul Ricardo, Xia Kun, Scheck Joshua, Aldinger Kimberly A, Sajan Samin A, Tang Sha, Bonneau Dominique, Beck Anita, White Janson, Mahida Sonal, Harris Jacqueline, Smith-Hicks Constance, Hoyer Juliane, Zweier Christiane, Reis André, Thiel Christian T, Jamra Rami Abou, Zeid Natasha, Yang Amy, Farach Laura S, Walsh Laurence, Payne Katelyn, Rohena Luis, Velinov Milen, Ziegler Alban, Schaefer Elise, Gatinois Vincent, Geneviève David, Simon Marleen E H, Kohler Jennefer, Rotenberg Joshua, Wheeler Patricia, Larson Austin, Ernst Michelle E, Akman Cigdem I, Westman Rachel, Blanchet Patricia, Schillaci Lori-Anne, Vincent-Delorme Catherine, Gripp Karen W, Mattioli Francesca, Guyader Gwenaël Le, Gerard Bénédicte, van Binsbergen Ellen, 14 Nov 2019, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22 , p. 538-546 9 p.

Holt Richard J., Young Rodrigo M., Crespo Berta, Ceroni Fabiola, Curry Cynthia J., Bellacchio Emanuele, Bax Dorine A., Ciolfi Andrea, Simon Marleen, Fagerberg Christina R., van Binsbergen Ellen, De Luca Alessandro, Memo Luigi, Dobyns William B., Mohammed Alaa Afif, Clokie Samuel J.H., Zazo Seco Celia, Jiang Yong Hui, Sørensen Kristina P., Andersen Helle, Sullivan Jennifer, Powis Zöe, Chassevent Anna, Smith-Hicks Constance, Petrovski Slavé, Antoniadi Thalia, Shashi Vandana, Gelb Bruce D., Wilson Stephen W., Gerrelli Dianne, Tartaglia Marco, Chassaing Nicolas, Calvas Patrick, Ragge Nicola K. 5 Sep 2019, In: American Journal of Human Genetics. 105 , p. 640-657 18 p.

Khandelwal Kriti D., van den Boogaard Marie José H., Mehrem Sarah L., Gebel Jakob, Fagerberg Christina, van Beusekom Ellen, van Binsbergen Ellen, Topaloglu Ozan, Steehouwer Marloes, Gilissen Christian, Ishorst Nina, van Rooij Iris A.L.M., Roeleveld Nel, Christensen Kaare, Schoenaers Joseph, Bergé Stefaan, Murray Jeffrey C., Hens Greet, Devriendt Koen, Ludwig Kerstin U., Mangold Elisabeth, Hoischen Alexander, Zhou Huiqing, Dötsch Volker, Carels Carine E.L., van Bokhoven Hans 1 Jul 2019, In: European Journal of Human Genetics. 27 , p. 1101-1112 12 p.