Rots Dmitrijs, Jakub Taryn E, Keung Crystal, Jackson Adam, Banka Siddharth, Pfundt Rolph, de Vries Bert B A, van Jaarsveld Richard H, 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 J, Stevenson Roger E, Everman David B, Patterson Wesley G, Meng Linyan, Gijavanekar Charul, De Dios Karl, Lakhani Shenela, Levy Tess, Wagner Matias, Wieczorek Dagmar, Benke Paul J, Lopez Garcia María Soledad, Perrier Renee, Sousa Sergio B, Almeida Pedro M, Simões Maria José, Isidor Bertrand, Deb Wallid, Schmanski Andrew A, Abdul-Rahman Omar, Philippe Christophe, Bruel Ange-Line, Faivre Laurence, Vitobello Antonio, Thauvin Christel, Smits Jeroen J, Garavelli Livia, Caraffi Stefano G, Peluso Francesca, Bosch Daniëlle G M, 1 Jun 2023, In: American Journal of Human Genetics. 110 , p. 963-978 16 p.

Rossi Alessandra, Blok Lot Snijders, Neuser Sonja, Klöckner Chiara, Platzer Konrad, Faivre Laurence Olivier, Weigand Heike, Dentici Maria L, Tartaglia Marco, Niceta Marcello, Alfieri Paolo, Srivastava Siddharth, Coulter David, Smith Lacey, Vinorum Kristin, Cappuccio Gerarda, Brunetti-Pierri Nicola, Torun Deniz, Arslan Mutluay, Lauridsen Mathilde F, Murch Oliver, Irving Rachel, Lynch Sally A, Mehta Sarju G, Carmichael Jenny, Zonneveld-Huijssoon Evelien, de Vries Bert, Kleefstra Tjitske, Johannesen Katrine M, Westphall Ian T, Hughes Susan S, Smithson Sarah, Evans Julie, Dudding-Byth Tracy, Simon Marleen, van Binsbergen Ellen, Herkert Johanna C, Beunders Gea, Oppermann Henry, Bakal Mert, Møller Rikke S, Rubboli Guido, Bayat Allan 10 May 2023, In: Clinical Genetics. 104 , p. 186-197 12 p.

van Jaarsveld Richard H, Reilly Jack, Cornips Marie-Claire, Hadders Michael A, Agolini Emanuele, Ahimaz Priyanka, Anyane-Yeboa Kwame, Bellanger Severine Audebert, van Binsbergen Ellen, van den Boogaard Marie-Jose, Brischoux-Boucher Elise, Caylor Raymond C, Ciolfi Andrea, van Essen Ton A J, Fontana Paolo, Hopman Saskia, Iascone Maria, Javier Margaret M, Kamsteeg Erik-Jan, Kerkhof Jennifer, Kido Jun, Kim Hyung-Goo, Kleefstra Tjitske, Lonardo Fortunato, Lai Abbe, Lev Dorit, Levy Michael A, Lewis M E Suzanne, Lichty Angie, Mannens Marcel M A M, Matsumoto Naomichi, Maya Idit, McConkey Haley, Megarbane Andre, Michaud Vincent, Miele Evelina, Niceta Marcello, Novelli Antonio, Onesimo Roberta, Pfundt Rolph, Popp Bernt, Prijoles Eloise, Relator Raissa, Redon Sylvia, Rots Dmitrijs, Rouault Karen, Saida Ken, Schieving Jolanda, Tartaglia Marco, Tenconi Romano, Uguen Kevin, Verbeek Nienke, Walsh Christopher A, Yosovich Keren, Yuskaitis Christopher J, Zampino Giuseppe, Sadikovic Bekim, Alders Mariëlle, Oegema Renske 1 Nov 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25 , p. 49-62 14 p.

Otsuji Shiomi, Nishio Yosuke, Tsujita Maki, Rio Marlene, Huber Céline, Antón-Plágaro Carlos, Mizuno Seiji, Kawano Yoshihiko, Miyatake Satoko, Simon Marleen, van Binsbergen Ellen, van Jaarsveld Richard H, Matsumoto Naomichi, Cormier-Daire Valerie, J Cullen Peter, Saitoh Shinji, Kato Kohji 16 Sep 2022, In: Journal of Medical Genetics. 60 , p. 359-367 9 p.

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.