학술논문
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'학술논문'
에서 검색결과 86건 | 목록
1~20
Academic Journal
Caron, Véronique ; Chassaing, Nicolas ; Ragge, Nicola ; Boschann, Felix ; Ngu, Angelina My-Hoa ; Meloche, Elisabeth ; Chorfi, Sarah ; Lakhani, Saquib A. ; Ji, Weizhen ; Steiner, Laurie ; Marcadier, Julien ; Jansen, Philip R. ; van de Pol, Laura A. ; van Hagen, Johanna M. ; Russi, Alvaro Serrano ; Le Guyader, Gwenaël ; Nordenskjöld, Magnus ; Nordgren, Ann ; Anderlid, Britt-Marie ; Plaisancié, Julie ; Stoltenburg, Corinna ; Horn, Denise ; Drenckhahn, Anne ; Hamdan, Fadi F. ; Lefebvre, Mathilde ; Attie-Bitach, Tania ; Forey, Peggy ; Smirnov, Vasily ; Ernould, Françoise ; Jacquemont, Marie-Line ; Grotto, Sarah ; Alcantud, Alberto ; Coret, Alicia ; Ferrer-Avargues, Rosario ; Srivastava, Siddharth ; Vincent-Delorme, Catherine ; Romoser, Shelby ; Safina, Nicole ; Saade, Dimah ; Lupski, James R. ; Calame, Daniel G. ; Geneviève, David ; Chatron, Nicolas ; Schluth-Bolard, Caroline ; Myers, Kenneth A. ; Dobyns, William B. ; Calvas, Patrick ; Salmon, Caroline ; Holt, Richard ; Elmslie, Frances ; Allaire, Marc ; Prigozhin, Daniil M. ; Tremblay, André ; Michaud, Jacques L.
In Genetics in Medicine August 2023 25(8)
Academic Journal
Gaasterland, C.M.W. ; Klein Haneveld, M.J. ; Vyshka, Klea; Hugon, A.; van Eeghen, A.M. ; Alhambra, Norma ; Anderlid, Britt-Marie ; Andres, Stephanie ; Aten, Emmelien ; Guedes, Rui Barbosa ; Bonaglia, Maria C. ; Bourgeron, Thomas ; Burdeus-Olavarrieta, Monica ; Carbin, Maya J. ; Cooke, Jennifer ; Damstra, Robert J. ; de Coo, Irenaeus F.M. ; Di Domenico, Stella ; Evans, D. Gareth ; Fernández-Fructuoso, José Ramón ; Grabrucker, Andreas M. ; Gunnarson, Cecilia ; Hadzsiev, Kinga ; Hennekam, Raoul C. ; Jesse, Sarah ; Kant, Sarina G. ; Koza, Sylvia A. ; Kuiper, Els ; Landlust, Annemiek M. ; Lapunzina, Pablo ; Loth, Eva ; Mansour, Sahar ; Maruani, Anna ; Mattina, Teresa ; Matulevičienė, Aušra ; Nevado, Julián ; Parker, Susanne ; Robert, Sandra ; Sala, Carlo ; San José Cáceres, Antonia ; Schön, Michael ; Šiaurytė, Kamilė ; Stemkens, Daphne ; Stiefsohn, Dominique ; Swillen, Ann ; Tabet, Anne C. ; Toro, Roberto ; Turner, Alison ; van Balkom, Ingrid D.C. ; van Buggenhout, Griet ; van Eeghen, Agnies M. ; van Ravenswaaij-Arts, Conny M.A. ; van Weering, Sabrina ; Verpelli, Chiara ; Vignes, Stephane ; Vogels, Annick ; Walinga, Margreet ; Stemkens, D. ; Maruani, A. ; Hadzsiev, K. ; van Balkom, I.D.C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Lindstrand, Anna; Eisfeldt, Jesper; Pettersson, Maria; Carvalho, Claudia M. B.; Kvarnung, Malin; Grigelioniene, Giedre; Anderlid, Britt-Marie; Bjerin, Olof; Gustavsson, Peter; Hammarsjö, Anna; Georgii-Hemming, Patrik; Iwarsson, Erik; Johansson-Soller, Maria; Lagerstedt-Robinson, Kristina; Lieden, Agne; Magnusson, Måns; Martin, Marcel; Malmgren, Helena; Nordenskjöld, Magnus; Norling, Ameli; Sahlin, Ellika; Stranneheim, Henrik; Tham, Emma; Wincent, Josephine; Ygberg, Sofia; Wedell, Anna; Wirta, Valtteri; Nordgren, Ann; Lundin, Johanna; Nilsson, Daniel
Genome Medicine. 11(1)
Academic Journal
Anna Hammarsjö; Maria Pettersson; David Chitayat; Atsuhiko Handa; Britt-Marie Anderlid; Marco Bartocci; Donald Basel; Dominyka Batkovskyte; Ana Beleza-Meireles; Peter Conner; Jesper Eisfeldt; Katta M. Girisha; Brian Hon-Yin Chung; Eva Horemuzova; Hironobu Hyodo; Liene Korņejeva; Kristina Lagerstedt-Robinson; Angela E. Lin; Måns Magnusson; Shahida Moosa; Shalini S. Nayak; Daniel Nilsson; Hirofumi Ohashi; Naoko Ohashi-Fukuda; Henrik Stranneheim; Fulya Taylan; Rasa Traberg; Ulrika Voss; Valtteri Wirta; Ann Nordgren; Gen Nishimura; Anna Lindstrand; Giedre Grigelioniene
J Hum Genet
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Verberne, Eline A. ; Goh, Shuxiang ; England, Jade ; van Ginkel, Manon ; Rafael-Croes, Louise ; Maas, Saskia ; Polstra, Abeltje ; Zarate, Yuri A. ; Bosanko, Katherine A. ; Pechter, Kieran B. ; Bedoukian, Emma ; Izumi, Kosuke ; Chaudhry, Ayeshah ; Robin, Nathaniel H. ; Boothe, Megan ; Lippa, Natalie C. ; Aggarwal, Vimla ; De Vivo, Darryl C. ; Lehman, Anna ; Study, Causes ; Stockler, Sylvia ; Bruel, Ange-Line ; Isidor, Bertrand ; Lemons, Jennifer ; Rodriguez-Buritica, David F. ; Richmond, Christopher M. ; Stark, Zornitza ; Agrawal, Pankaj B. ; Kooy, R.Frank ; Meuwissen, Marije E.C. ; Koolen, David A. ; Pfundt, Rolf ; Lieden, Agne ; Anderlid, Britt-Marie ; Glatz, Dagmar ; Mannens, Marcel M.A.M. ; Bakshi, Madhura ; Mallette, Frédérick A. ; van Haelst, Mieke M. ; Campeau, Philippe M.
In Genetics in Medicine February 2021 23(2):374-383
Academic Journal
Anne H. O’Donnell-Luria; Lynn S. Pais; Víctor Faundes; Jordan C. Wood; Abigail Sveden; Victor Luria; Rami Abou Jamra; Andrea Accogli; Kimberly Amburgey; Britt Marie Anderlid; Silvia Azzarello-Burri; Alice A. Basinger; Claudia Bianchini; Lynne M. Bird; Rebecca Buchert; Wilfrid Carre; Sophia Ceulemans; Perrine Charles; Helen Cox; Lisa Culliton; Aurora Currò; Florence Demurger; James J. Dowling; Benedicte Duban-Bedu; Christèle Dubourg; Saga Elise Eiset; Luis F. Escobar; Alessandra Ferrarini; Tobias B. Haack; Mona Hashim; Solveig Heide; Katherine L. Helbig; Ingo Helbig; Raul Heredia; Delphine Héron; Bertrand Isidor; Amy R. Jonasson; Pascal Joset; Boris Keren; Fernando Kok; Hester Y. Kroes; Alinoë Lavillaureix; Xin Lu; Saskia M. Maas; Gustavo H.B. Maegawa; Carlo L.M. Marcelis; Paul R. Mark; Marcelo R. Masruha; Heather M. McLaughlin; Kirsty McWalter; Esther U. Melchinger; Saadet Mercimek-Andrews; Caroline Nava; Manuela Pendziwiat; Richard Person; Gian Paolo Ramelli; Luiza L.P. Ramos; Anita Rauch; Caitlin Reavey; Alessandra Renieri; Angelika Rieß; Amarilis Sanchez-Valle; Shifteh Sattar; Carol Saunders; Niklas Schwarz; Thomas Smol; Myriam Srour; Katharina Steindl; Steffen Syrbe; Jenny C. Taylor; Aida Telegrafi; Isabelle Thiffault; Doris A. Trauner; Helio van der Linden; Silvana van Koningsbruggen; Laurent Villard; Ida Vogel; Julie Vogt; Yvonne G. Weber; Ingrid M. Wentzensen; Elysa Widjaja; Jaroslav Zak; Samantha Baxter; Siddharth Banka; Lance H. Rodan; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Julia Rankin; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles
American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K,Anderlid , B M , Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M , Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M , Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M , Mark, P, Masruha, M , McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M , Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M , Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K,
Academic Journal
Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Davis, Erica E.; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Nicholas; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Sadeghpour, Azita; Smith, Edward; Wiener, John; Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Myers, Candace T. ; Uysal, Betül ; Schwarz, Niklas ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Héron, Delphine ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kibaek, Maria ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Kruer, Michael C. ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Padilla-Lopez, Sergio ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Lanpher, Brendan C. ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Haan, Eric ; Smith, Nicholas ; Corbett, Mark A. ; MacLennan, Alastair H. ; Gecz, Jozef ; Biskup, Saskia ; Goldmann, Eva ; Rodan, Lance H. ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; Dimmock, David ; McCarrier, Julie ; Botto, Lorenzo D. ; Filloux, Francis ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Wang, Raymond ; Jacobsen, Jessie C. ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Anderlid, Britt-Marie ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; Casas, Kari ; El Achkar, Christelle M. ; Smith, Lacey A. ; Rotenberg, Alexander ; Poduri, Annapurna ; Sanchis-Juan, Alba ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Raymond, F. Lucy ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Hughes, Imelda ; Banka, Siddharth ; Hedrich, Ulrike B.S. ; Scheffer, Ingrid E. ; Helbig, Ingo ; Zamponi, Gerald W. ; Lerche, Holger ; Mefford, Heather C.
In The American Journal of Human Genetics 1 November 2018 103(5):666-678
Academic Journal
Madeleine R Geisheker; Gabriel Heymann; Tianyun Wang; Bradley P Coe; Tychele N Turner; Holly A F Stessman; Kendra Hoekzema; Malin Kvarnung; Marie Shaw; Kathryn Friend; Jan Liebelt; Christopher Barnett; Elizabeth M Thompson; Eric Haan; Hui Guo; Britt-Marie Anderlid; Ann Nordgren; Anna Lindstrand; Geert Vandeweyer; Antonino Alberti; Emanuela Avola; Mirella Vinci; Stefania Giusto; Tiziano Pramparo; Karen Pierce; Srinivasa Nalabolu; Jacob J Michaelson; Zdenek Sedlacek; Gijs W E Santen; Hilde Peeters; Hakon Hakonarson; Eric Courchesne; Corrado Romano; R Frank Kooy; Raphael A Bernier; Magnus Nordenskjöld; Jozef Gecz; Kun Xia; Larry S Zweifel; Evan E Eichler
Nat Neurosci
Academic Journal
Delgado-Vega, Angelica M.; Taylan, Fulya; Ameur, Adam; Topa, Alexandra; Jemt, Anders; Kashyap, Aniruddh; Hammarsjo, Anna; Lindstrand, Anna; Sandestig, Anna; Anderlid, Britt-Marie; Gunnarsson, Cecilia; Zander, Cecilia Soussi; Nilsson, Daniel; Ekblom, Eva; Stattin, Eva-Lena; Lenner, Felix; Grigelioniene, Giedre; Helgadottir, Hafdis; Thonberg, Hakan; Ehrencrona, Hans; Malmgren, Helena; Cederroth, Helene; Hoijer, Ida; Jonasson, Jenni; Eisfeldt, Jesper; Klar, Joakim; Hallin, Johan; Ekholm, Katja; Cederquist, Kristina; Karrman, Kristina; Lagerstedt-Robinson, Kristina; Feuk, Lars; Lovmar, Lovisa; Pena-Perez, Lucia; Burstedt, Magnus; Melin, Malin; Pettersson, Maria; Bondeson, Marie Louise; Ek, Marlene; Barbaro, Michela; Cederroth, Mikk; Pekkola-Pacheco, Nadja; Lesko, Nicole; Ellegard, Rada; Rosenquist, Richard; Ivarsson, Sofie; Wirta, Valtteri; Nordgren, Ann
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; John Acampado; Andrea J. Ace; Alpha Amatya; Irina Astrovskaya; Asif Bashar; Elizabeth Brooks; Martin E. Butler; Lindsey A. Cartner; Wubin Chin; Wendy K. Chung; Amy M. Daniels; Pamela Feliciano; Chris Fleisch; Swami Ganesan; William Jensen; Alex E. Lash; Richard Marini; Vincent J. Myers; Eirene O’Connor; Chris Rigby; Beverly E. Robertson; Neelay Shah; Swapnil Shah; Emily Singer; LeeAnne G. Snyder; Alexandra N. Stephens; Jennifer Tjernagel; Brianna M. Vernoia; Natalia Volfovsky; Loran Casey White; Alexander Hsieh; Yufeng Shen; Xueya Zhou; Tychele N. Turner; Ethan Bahl; Taylor R. Thomas; Leo Brueggeman; Tanner Koomar; Brian J. O’Roak; Rebecca A. Barnard; Richard A. Gibbs; Donna Muzny; Aniko Sabo; Kelli L. Baalman Ahmed; Evan E. Eichler; Matthew Siegel; Leonard Abbeduto; Brittani A. Hilscher; Deana Li; Kaitlin Smith; Samantha Thompson; Charles Albright; Eric M. Butter; Sara Eldred; Nathan Hanna; Mark Jones; Daniel Lee Coury; Jessica Scherr; Taylor Pifher; Erin Roby; Brandy Dennis; Lorrin Higgins; Melissa Brown; Michael Alessandri; Anibal Gutierrez; Melissa N. Hale; Lynette M. Herbert; Hoa Lam Schneider; Giancarla David; Robert D. Annett; Dustin E. Sarver; Ivette Arriaga; Alexies Camba; Amanda C. Gulsrud; Monica Haley; James T. McCracken; Sophia Sandhu; Maira Tafolla; Wha S. Yang; Laura A. Carpenter; Catherine C. Bradley; Frampton Gwynette; Patricia Manning; Rebecca Shaffer; Carrie Thomas; Raphael A. Bernier; Emily A. Fox; Jennifer A. Gerdts; Micah Pepper; Theodore Ho; Daniel Cho; Joseph Piven; Holly Lechniak; Latha V. Soorya; Rachel Gordon; Allison Wainer; Lisa Yeh; Cesar Ochoa-Lubinoff; Nicole Russo; Elizabeth Berry-Kravis; Stephanie Booker; Craig A. Erickson; Lisa M. Prock; Katherine G. Pawlowski; Emily T. Matthews; Stephanie J. Brewster; Margaret A. Hojlo; Evi Abada; Elena Lamarche; Shwetha C. Murali; William T. Harvey; Hannah E. Kaplan; Karen L. Pierce; Lindsey DeMarco; Susannah Horner; Juhi Pandey; Samantha Plate; Mustafa Sahin; Katherine D. Riley; Erin Carmody; Julia Constantini; Amy Esler; Ali Fatemi; Hanna Hutter; Rebecca J. Landa; Alexander P. McKenzie; Jason Neely; Vini Singh; Bonnie Van Metre; Ericka L. Wodka; Eric J. Fombonne; Lark Y. Huang-Storms; Lillian D. Pacheco; Sarah A. Mastel; Leigh A. Coppola; Sunday Francis; Andrea Jarrett; Suma Jacob; Natasha Lillie; Jaclyn Gunderson; Dalia Istephanous; Laura Simon; Ori Wasserberg; Angela L. Rachubinski; Cordelia R. Rosenberg; Stephen M. Kanne; Amanda D. Shocklee; Nicole Takahashi; Shelby L. Bridwell; Rebecca L. Klimczac; Melissa A. Mahurin; Hannah E. Cotrell; Cortaiga A. Grant; Samantha G. Hunter; Christa Lese Martin; Cora M. Taylor; Lauren K. Walsh; Katherine A. Dent; Andrew Mason; Anthony Sziklay; Christopher J. Smith; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Jozef Gecz; Kun Xia
Nat Commun
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Nature Communications, vol 11, iss 1
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Nature Communications, vol 11, iss 1
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; John Acampado; Andrea J. Ace; Alpha Amatya; Irina Astrovskaya; Asif Bashar; Elizabeth Brooks; Martin E. Butler; Lindsey A. Cartner; Wubin Chin; Wendy K. Chung; Amy M. Daniels; Pamela Feliciano; Chris Fleisch; Swami Ganesan; William Jensen; Alex E. Lash; Richard Marini; Vincent J. Myers; Eirene O’Connor; Chris Rigby; Beverly E. Robertson; Neelay Shah; Swapnil Shah; Emily Singer; LeeAnne G. Snyder; Alexandra N. Stephens; Jennifer Tjernagel; Brianna M. Vernoia; Natalia Volfovsky; Loran Casey White; Alexander Hsieh; Yufeng Shen; Xueya Zhou; Tychele N. Turner; Ethan Bahl; Taylor R. Thomas; Leo Brueggeman; Tanner Koomar; Brian J. O’Roak; Rebecca A. Barnard; Richard A. Gibbs; Donna Muzny; Aniko Sabo; Kelli L. Baalman Ahmed; Evan E. Eichler; Matthew Siegel; Leonard Abbeduto; Brittani A. Hilscher; Deana Li; Kaitlin Smith; Samantha Thompson; Charles Albright; Eric M. Butter; Sara Eldred; Nathan Hanna; Mark Jones; Daniel Lee Coury; Jessica Scherr; Taylor Pifher; Erin Roby; Brandy Dennis; Lorrin Higgins; Melissa Brown; Michael Alessandri; Anibal Gutierrez; Melissa N. Hale; Lynette M. Herbert; Hoa Lam Schneider; Giancarla David; Robert D. Annett; Dustin E. Sarver; Ivette Arriaga; Alexies Camba; Amanda C. Gulsrud; Monica Haley; James T. McCracken; Sophia Sandhu; Maira Tafolla; Wha S. Yang; Laura A. Carpenter; Catherine C. Bradley; Frampton Gwynette; Patricia Manning; Rebecca Shaffer; Carrie Thomas; Raphael A. Bernier; Emily A. Fox; Jennifer A. Gerdts; Micah Pepper; Theodore Ho; Daniel Cho; Joseph Piven; Holly Lechniak; Latha V. Soorya; Rachel Gordon; Allison Wainer; Lisa Yeh; Cesar Ochoa-Lubinoff; Nicole Russo; Elizabeth Berry-Kravis; Stephanie Booker; Craig A. Erickson; Lisa M. Prock; Katherine G. Pawlowski; Emily T. Matthews; Stephanie J. Brewster; Margaret A. Hojlo; Evi Abada; Elena Lamarche; Shwetha C. Murali; William T. Harvey; Hannah E. Kaplan; Karen L. Pierce; Lindsey DeMarco; Susannah Horner; Juhi Pandey; Samantha Plate; Mustafa Sahin; Katherine D. Riley; Erin Carmody; Julia Constantini; Amy Esler; Ali Fatemi; Hanna Hutter; Rebecca J. Landa; Alexander P. McKenzie; Jason Neely; Vini Singh; Bonnie Van Metre; Ericka L. Wodka; Eric J. Fombonne; Lark Y. Huang-Storms; Lillian D. Pacheco; Sarah A. Mastel; Leigh A. Coppola; Sunday Francis; Andrea Jarrett; Suma Jacob; Natasha Lillie; Jaclyn Gunderson; Dalia Istephanous; Laura Simon; Ori Wasserberg; Angela L. Rachubinski; Cordelia R. Rosenberg; Stephen M. Kanne; Amanda D. Shocklee; Nicole Takahashi; Shelby L. Bridwell; Rebecca L. Klimczac; Melissa A. Mahurin; Hannah E. Cotrell; Cortaiga A. Grant; Samantha G. Hunter; Christa Lese Martin; Cora M. Taylor; Lauren K. Walsh; Katherine A. Dent; Andrew Mason; Anthony Sziklay; Christopher J. Smith; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Jozef Gecz; Kun Xia
Nat Commun
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11, 1
Nature communications
Nature Communications, vol 11, iss 1
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11, 1
Nature communications
Nature Communications, vol 11, iss 1
Academic Journal
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European Journal of Medical Genetics
European Journal of Medical Genetics
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Nilsson, Daniel; Pettersson, Maria; Gustavsson, Peter; Förster, Alisa; Hofmeister, Wolfgang; Wincent, Josephine; Zachariadis, Vasilios; Anderlid, Britt-Marie; Nordgren, Ann; Mäkitie, Outi; Wirta, Valtteri; Käller, Max; Vezzi, Francesco; Lupski, James R.; Nordenskjöld, Magnus; Lundberg, Elisabeth Syk; Carvalho, Claudia M. B.; Lindstrand, Anna
Human Mutation. 38(2):180-192
Academic Journal
Reijnders, Margot RF; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny MA; Veenstra-Knol, Hermine E; Anderlid, Britt-Marie M; Wood, Stephen A; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M; Vreeburg, Maaike; Hobson, Emma; Sutton, V Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske
American Journal of Human Genetics, 98, 2, pp. 373-81
Academic Journal
Gabriella Gazdagh; David Hunt; Anna Maria Cueto Gonzalez; Monserrat Pons Rodriguez; Ayeshah Chaudhry; Marcos Madruga; Fleur Vansenne; Deborah Shears; Aurore Curie; Eva‐Lena Stattin; Britt‐Marie Anderlid; Slavica Trajkova; Elena Sukarova Angelovska; Catherine McWilliam; Philip R. Wyatt; Mary O'Driscoll; Giles Atton; Anke K. Bergman; Pia Zacher; Leena D. Mewasingh; Antonio Gonzalez‐Meneses López; Olga Alonso‐Luengo; Htoo A. Wai; Ottilie Rohde; Pauline Boiroux; Anne Debant; Susanne Schmidt; Diana Baralle
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Academic Journal
O’Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; Wood, Jordan C; Sveden, Abigail; Luria, Victor; Jamra, Rami Abou; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A; Bianchini, Claudia; Bird, Lynne M; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Study, Deciphering Developmental Disorders; McRae, Jeremy F; Clayton, Stephen; Fitzgerald, Tomas W; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D; King, Daniel; Krishnappa, Netravathi; Mason, Laura E; Singh, Tarjinder; Tivey, Adrian R; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N; Connell, Fiona; Cooper, Nicola; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus
American Journal of Human Genetics, vol 104, iss 6
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Eline A. Verberne; Liselot van der Laan; Sadegheh Haghshenas; Kathleen Rooney; Michael A. Levy; Mariëlle Alders; Saskia M. Maas; Sandra Jansen; Agne Lieden; Britt-Marie Anderlid; Louise Rafael-Croes; Philippe M. Campeau; Ayeshah Chaudhry; David A. Koolen; Rolph Pfundt; Anna C. E. Hurst; Frederic Tran-Mau-Them; Ange-Line Bruel; Laetitia Lambert; Bertrand Isidor; Marcel M. A. M. Mannens; Bekim Sadikovic; Peter Henneman; Mieke M. van Haelst
Int J Mol Sci
International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 8001
Verberne, E A, van der Laan, L, Haghshenas, S, Rooney, K, Levy,M A, Alders, M , Maas, S M , Jansen, S, Lieden, A, Anderlid , B-M , Rafael-Croes, L, Campeau, P M , Chaudhry, A, Koolen, D A, Pfundt, R, Hurst, A C E, Tran-Mau-Them, F, Bruel, A-L, Lambert, L, Isidor, B, Mannens, M M A M , Sadikovic, B, Henneman, P & van Haelst, M M 2022, 'DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome', International Journal of Molecular Sciences, vol. 23, no. 14, 8001. https://doi.org/10.3390/ijms23148001
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International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 8001
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International Journal of Molecular Sciences, 23, 14
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Radio, Francesca Clementina ; Pang, Kaifang ; Ciolfi, Andrea ; Levy, Michael A. ; Hernández-García, Andrés ; Pedace, Lucia ; Pantaleoni, Francesca ; Liu, Zhandong ; de Boer, Elke ; Jackson, Adam ; Bruselles, Alessandro ; McConkey, Haley ; Stellacci, Emilia ; Lo Cicero, Stefania ; Motta, Marialetizia ; Carrozzo, Rosalba ; Dentici, Maria Lisa ; McWalter, Kirsty ; Desai, Megha ; Monaghan, Kristin G. ; Telegrafi, Aida ; Philippe, Christophe ; Vitobello, Antonio ; Au, Margaret ; Grand, Katheryn ; Sanchez-Lara, Pedro A. ; Baez, Joanne ; Lindstrom, Kristin ; Kulch, Peggy ; Sebastian, Jessica ; Madan-Khetarpal, Suneeta ; Roadhouse, Chelsea ; MacKenzie, Jennifer J. ; Monteleone, Berrin ; Saunders, Carol J. ; Jean Cuevas, July K. ; Cross, Laura ; Zhou, Dihong ; Hartley, Taila ; Sawyer, Sarah L. ; Monteiro, Fabíola Paoli ; Secches, Tania Vertemati ; Kok, Fernando ; Schultz-Rogers, Laura E. ; Macke, Erica L. ; Morava, Eva ; Klee, Eric W. ; Kemppainen, Jennifer ; Iascone, Maria ; Selicorni, Angelo ; Tenconi, Romano ; Amor, David J. ; Pais, Lynn ; Gallacher, Lyndon ; Turnpenny, Peter D. ; Stals, Karen ; Ellard, Sian ; Cabet, Sara ; Lesca, Gaetan ; Pascal, Joset ; Steindl, Katharina ; Ravid, Sarit ; Weiss, Karin ; Castle, Alison M.R. ; Carter, Melissa T. ; Kalsner, Louisa ; de Vries, Bert B.A. ; van Bon, Bregje W. ; Wevers, Marijke R. ; Pfundt, Rolph ; Stegmann, Alexander P.A. ; Kerr, Bronwyn ; Kingston, Helen M. ; Chandler, Kate E. ; Sheehan, Willow ; Elias, Abdallah F. ; Shinde, Deepali N. ; Towne, Meghan C. ; Robin, Nathaniel H. ; Goodloe, Dana ; Vanderver, Adeline ; Sherbini, Omar ; Bluske, Krista ; Hagelstrom, R. Tanner ; Zanus, Caterina ; Faletra, Flavio ; Musante, Luciana ; Kurtz-Nelson, Evangeline C. ; Earl, Rachel K. ; Anderlid, Britt-Marie ; Morin, Gilles ; van Slegtenhorst, Marjon ; Diderich, Karin E.M. ; Brooks, Alice S. ; Gribnau, Joost ; Boers, Ruben G. ; Finestra, Teresa Robert ; Carter, Lauren B. ; Rauch, Anita ; Gasparini, Paolo ; Boycott, Kym M. ; Barakat, Tahsin Stefan ; Graham, John M., Jr. ; Faivre, Laurence ; Banka, Siddharth ; Wang, Tianyun ; Eichler, Evan E. ; Priolo, Manuela ; Dallapiccola, Bruno ; Vissers, Lisenka E.L.M. ; Sadikovic, Bekim ; Scott, Daryl A. ; Holder, Jimmy Lloyd, Jr. ; Tartaglia, Marco
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Nature Genetics, 38, 9, pp. 999-1001
Nature genetics
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