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Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210
- Faundes, Víctor
- Goh, Stephanie
- Akilapa, Rhoda
- Bezuidenhout, Heidre
- Bjornsson, Hans T.
- Bradley, Lisa
- Brady, Angela F.
- Brischoux-Boucher, Elise
- Brunner, Han
- Bulk, Saskia
- Canham, Natalie
- Cody, Declan
- Dentici, Maria Lisa
- Digilio, Maria Cristina
- Elmslie, Frances
- Fry, Andrew E.
- Gill, Harinder
- Hurst, Jane
- Johnson, Diana
- Julia, Sophie
- Lachlan, Katherine
- Lebel, Robert Roger
- Byler, Melissa
- Gershon, Eric
- Lemire, Edmond
- Gnazzo, Maria
- Lepri, Francesca Romana
- Marchese, Antonia
- McEntagart, Meriel
- McGaughran, Julie
- Mizuno, Seiji
- Okamoto, Nobuhiko
- Rieubland, Claudine
- Rodgers, Jonathan
- Sasaki, Erina
- Scalais, Emmanuel
- Scurr, Ingrid
- Suri, Mohnish
- van der Burgt, Ineke
- Matsumoto, Naomichi
- Miyake, Noriko
- Benoit, Valérie
- Lederer, Damien
- Banka, Siddharth
2021
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1st Edition 2020, 2020
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Human molecular genetics, 2015-08, Vol.24 (15), p.4443-4453
2015
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Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95
2019
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Developmental biology, 2016-07, Vol.415 (2), p.198-215
2016
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Scientific reports, 2021-06, Vol.11 (1), p.12175-12175, Article 12175
2021
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Science (American Association for the Advancement of Science), 2013-10, Vol.342 (6157), p.440-440
- Attanasio, Catia
- Nord, Alex S.
- Zhu, Yiwen
- Blow, Matthew J.
- Li, Zirong
- Liberton, Denise K.
- Morrison, Harris
- Plajzer-Frick, Ingrid
- Holt, Amy
- Hosseini, Roya
- Phouanenavong, Sengthavy
- Akiyama, Jennifer A.
- Shoukry, Malak
- Afzal, Veena
- Rubin, Edward M.
- FitzPatrick, David R.
- Ren, Bing
- Hallgrímsson, Benedikt
- Pennacchio, Len A.
- Visel, Axel
2013
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Human mutation, 2013-11, Vol.34 (11), p.1519-1528
- Santen, Gijs W.E.
- Aten, Emmelien
- Vulto-van Silfhout, Anneke T.
- Pottinger, Caroline
- van Bon, Bregje W.M.
- van Minderhout, Ivonne J.H.M.
- Snowdowne, Ronelle
- van der Lans, Christian A.C.
- Boogaard, Merel
- Linssen, Margot M.L.
- Vijfhuizen, Linda
- van der Wielen, Michiel J.R.
- Vollebregt, M.J. (Ellen)
- Breuning, Martijn H.
- Kriek, Marjolein
- van Haeringen, Arie
- den Dunnen, Johan T.
- Hoischen, Alexander
- Clayton-Smith, Jill
- de Vries, Bert B.A.
- Hennekam, Raoul C.M.
- van Belzen, Martine J.
- Almureikhi, Mariam
- Baban, Anwar
- Barbosa, Mafalda
- Ben-Omran, Tawfeg
- Berry, Katherine
- Bigoni, Stefania
- Boute, Odile
- Brueton, Louise
- van der Burgt, Ineke
- Canham, Natalie
- Chandler, Kate E.
- Chrzanowska, Krystyna
- Collins, Amanda L.
- de Toni, Teresa
- Dean, John
- den Hollander, Nicolette S.
- Flore, Leigh Anne
- Fryer, Alan
- Gardham, Alice
- Graham Jr, John M.
- Harrison, Victoria
- Horn, Denise
- Jongmans, Marjolijn C.
- Josifova, Dragana
- Kant, Sarina G.
- Kapoor, Seema
- Kingston, Helen
- Kini, Usha
- Kleefstra, Tjitske
- Krajewska-Walasek, Małgorzata
- Kramer, Nancy
- Maas, Saskia M.
- Maciel, Patricia
- Mancini, Grazia M.S.
- Maystadt, Isabelle
- McKee, Shane
- Milunsky, Jeff M.
- Nampoothiri, Sheela
- Newbury-Ecob, Ruth
- Nikkel, Sarah M.
- Parker, Michael J.
- Pérez-Jurado, Luis A.
- Robertson, Stephen P.
- Rooryck, Caroline
- Shears, Debbie
- Silengo, Margherita
- Singh, Ankur
- Smigiel, Robert
- Soares, Gabriela
- Splitt, Miranda
- Stewart, Helen
- Sweeney, Elizabeth
- Tassabehji, May
- Tuysuz, Beyhan
- van Eerde, Albertien M.
- Vincent-Delorme, Catherine
- Wilson, Louise C.
- Yesil, Gozde
2013
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Human molecular genetics, 2013-12, Vol.22 (25), p.5121-5135
- Wieczorek, Dagmar
- Bögershausen, Nina
- Beleggia, Filippo
- Steiner-Haldenstätt, Sabine
- Pohl, Esther
- Li, Yun
- Milz, Esther
- Martin, Marcel
- Thiele, Holger
- Altmüller, Janine
- Alanay, Yasemin
- Kayserili, Hülya
- Klein-Hitpass, Ludger
- Böhringer, Stefan
- Wollstein, Andreas
- Albrecht, Beate
- Boduroglu, Koray
- Caliebe, Almuth
- Chrzanowska, Krystyna
- Cogulu, Ozgur
- Cristofoli, Francesca
- Czeschik, Johanna Christina
- Devriendt, Koenraad
- Dotti, Maria Teresa
- Elcioglu, Nursel
- Gener, Blanca
- Goecke, Timm O
- Krajewska-Walasek, Malgorzata
- Guillén-Navarro, Encarnación
- Hayek, Joussef
- Houge, Gunnar
- Kilic, Esra
- Simsek-Kiper, Pelin Özlem
- López-González, Vanesa
- Kuechler, Alma
- Lyonnet, Stanislas
- Mari, Francesca
- Marozza, Annabella
- Mathieu Dramard, Michèle
- Mikat, Barbara
- Morin, Gilles
- Morice-Picard, Fanny
- Ozkinay, Ferda
- Rauch, Anita
- Renieri, Alessandra
- Tinschert, Sigrid
- Utine, G Eda
- Vilain, Catheline
- Vivarelli, Rossella
- Zweier, Christiane
- Nürnberg, Peter
- Rahmann, Sven
- Vermeesch, Joris
- Lüdecke, Hermann-Josef
- Zeschnigk, Michael
- Wollnik, Bernd
2013
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Human mutation, 2016-09, Vol.37 (9), p.847-864
- Bögershausen, Nina
- Gatinois, Vincent
- Riehmer, Vera
- Kayserili, Hülya
- Becker, Jutta
- Thoenes, Michaela
- Simsek-Kiper, Pelin Özlem
- Barat-Houari, Mouna
- Elcioglu, Nursel H.
- Wieczorek, Dagmar
- Tinschert, Sigrid
- Sarrabay, Guillaume
- Strom, Tim M.
- Fabre, Aurélie
- Baynam, Gareth
- Sanchez, Elodie
- Nürnberg, Gudrun
- Altunoglu, Umut
- Capri, Yline
- Isidor, Bertrand
- Lacombe, Didier
- Corsini, Carole
- Cormier-Daire, Valérie
- Sanlaville, Damien
- Giuliano, Fabienne
- Le Quan Sang, Kim-Hanh
- Kayirangwa, Honorine
- Nürnberg, Peter
- Meitinger, Thomas
- Boduroglu, Koray
- Zoll, Barbara
- Lyonnet, Stanislas
- Tzschach, Andreas
- Verloes, Alain
- Di Donato, Nataliya
- Touitou, Isabelle
- Netzer, Christian
- Li, Yun
- Geneviève, David
- Yigit, Gökhan
- Wollnik, Bernd
2016
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American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1053-1065
2020
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American journal of human genetics, 2017-05, Vol.100 (5), p.773-788
- Butcher, Darci T.
- Cytrynbaum, Cheryl
- Turinsky, Andrei L.
- Siu, Michelle T.
- Inbar-Feigenberg, Michal
- Mendoza-Londono, Roberto
- Chitayat, David
- Walker, Susan
- Machado, Jerry
- Caluseriu, Oana
- Dupuis, Lucie
- Grafodatskaya, Daria
- Reardon, William
- Gilbert-Dussardier, Brigitte
- Verloes, Alain
- Bilan, Frederic
- Milunsky, Jeff M.
- Basran, Raveen
- Papsin, Blake
- Stockley, Tracy L.
- Scherer, Stephen W.
- Choufani, Sanaa
- Brudno, Michael
- Weksberg, Rosanna
2017
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The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417
- Collier, Jack J
- Guissart, Claire
- Oláhová, Monika
- Sasorith, Souphatta
- Piron-Prunier, Florence
- Suomi, Fumi
- Zhang, David
- Martinez-Lopez, Nuria
- Leboucq, Nicolas
- Bahr, Angela
- Azzarello-Burri, Silvia
- Reich, Selina
- Schöls, Ludger
- Polvikoski, Tuomo M
- Meyer, Pierre
- Larrieu, Lise
- Schaefer, Andrew M
- Alsaif, Hessa S
- Alyamani, Suad
- Zuchner, Stephan
- Barbosa, Inês A
- Deshpande, Charu
- Pyle, Angela
- Rauch, Anita
- Synofzik, Matthis
- Alkuraya, Fowzan S
- Rivier, François
- Ryten, Mina
- McFarland, Robert
- Delahodde, Agnès
- McWilliams, Thomas G
- Koenig, Michel
- Taylor, Robert W
2021
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Medicina clinica, 2022-02, Vol.158 (4), p.194
2022
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American journal of human genetics, 2018-03, Vol.102 (3), p.468-479
- Vasileiou, Georgia
- Vergarajauregui, Silvia
- Endele, Sabine
- Popp, Bernt
- Büttner, Christian
- Ekici, Arif B.
- Gerard, Marion
- Bramswig, Nuria C.
- Albrecht, Beate
- Clayton-Smith, Jill
- Morton, Jenny
- Tomkins, Susan
- Low, Karen
- Weber, Astrid
- Wenzel, Maren
- Altmüller, Janine
- Li, Yun
- Wollnik, Bernd
- Hoganson, George
- Plona, Maria-Renée
- Cho, Megan T.
- Thiel, Christian T.
- Lüdecke, Hermann-Josef
- Strom, Tim M.
- Calpena, Eduardo
- Wilkie, Andrew O.M.
- Wieczorek, Dagmar
- Engel, Felix B.
- Reis, André
2018
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British journal of radiology, 2022-01, Vol.95 (1129), p.20201241-20201241
2022
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Neuropharmacology, 2014-05, Vol.80, p.83-94
2014
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Cytokine & growth factor reviews, 2016-02, Vol.27, p.129-139
2016
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American journal of human genetics, 2019-01, Vol.104 (1), p.164-178
- Sullivan, Jennifer A.
- Shashi, Vandana
- Jiang, Yong-hui
- Stong, Nicholas
- Fiala, Elise
- Willing, Marcia
- Pfundt, Rolph
- Kleefstra, Tjitske
- Orellana, Carmen
- Monfort, Sandra
- Roscioli, Tony
- Jones, Wendy D.
- Sebastian, Jessica
- Sonal, Desai
- Sakkubai, Naidu
- Faivre, Laurence
- Krantz, Ian D.
- Adams, David R.
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Barseghyan, Hayk
- Batzli, Gabriel F.
- Beggs, Alan H.
- Bican, Anna
- Birch, Camille L.
- Bonner, Devon
- Boone, Braden E.
- Briere, Lauren C.
- Brown, Donna M.
- Brush, Matthew
- Chen, Shan
- Coakley, Terra R.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dillon, Ani
- Dipple, Katrina M.
- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Dorset, Daniel C.
- Eskin, Ascia
- Friedman, Noah D.
- Glanton, Emily
- Godfrey, Rena A.
- Gould, Sarah E.
- Gropman, Andrea L.
- Hom, Jason
- Jacob, Howard J.
- Jain, Mahim
- Kohane, Isaac S.
- Krieg, Elizabeth L.
- Lau, C. Christopher
- Lazar, Jozef
- Lee, Brendan H.
- Lee, Hane
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martínez-Agosto, Julian A.
- Marwaha, Shruti
- May, Thomas
- McCray, Alexa T.
- Might, Matthew
- Mulvihill, John J.
- Murphy, Jennifer L.
- Nelson, Stan F.
- Newman, John H.
- Novacic, Donna
- Orange, Jordan S.
- Pallais, J. Carl
- Pena, Loren D.M.
- Phillips, John A.
- Postlethwait, John H.
- Reuter, Chloe M.
- Rosenfeld, Jill A.
- Sharma, Prashant
- Signer, Rebecca
- Sinsheimer, Janet S.
- Spillmann, Rebecca C.
- Splinter, Kimberly
- Stoler, Joan M.
- Sweetser, David A.
- Tran, Alyssa A.
- Valivullah, Zaheer M.
- Wahl, Colleen E.
- Waters, Katrina M.
- Westerfield, Monte
- Wise, Anastasia L.
- Worthey, Elizabeth A.
- Yang, Yaping
- Zastrow, Diane B.
- Campeau, Philippe M.
2019
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Nature communications, 2018-11, Vol.9 (1), p.4885-15, Article 4885
- Aref-Eshghi, Erfan
- Bend, Eric G.
- Hood, Rebecca L.
- Schenkel, Laila C.
- Carere, Deanna Alexis
- Chakrabarti, Rana
- Nagamani, Sandesh C. S.
- Cheung, Sau Wai
- Campeau, Philippe M.
- Prasad, Chitra
- Siu, Victoria Mok
- Brady, Lauren
- Tarnopolsky, Mark A.
- Callen, David J.
- Innes, A. Micheil
- White, Susan M.
- Meschino, Wendy S.
- Shuen, Andrew Y.
- Paré, Guillaume
- Bulman, Dennis E.
- Ainsworth, Peter J.
- Lin, Hanxin
- Rodenhiser, David I.
- Hennekam, Raoul C.
- Boycott, Kym M.
- Schwartz, Charles E.
- Sadikovic, Bekim
2018
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Science translational medicine, 2014-10, Vol.6 (256), p.256ra135
2014
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Clinical genetics, 2021-08, Vol.100 (2), p.187-200
- Parenti, Ilaria
- Mallozzi, Mark B.
- Hüning, Irina
- Gervasini, Cristina
- Kuechler, Alma
- Agolini, Emanuele
- Albrecht, Beate
- Baquero‐Montoya, Carolina
- Bohring, Axel
- Bramswig, Nuria C.
- Busche, Andreas
- Dalski, Andreas
- Guo, Yiran
- Hanker, Britta
- Hellenbroich, Yorck
- Horn, Denise
- Innes, A. Micheil
- Leoni, Chiara
- Li, Yun R.
- Lynch, Sally Ann
- Mariani, Milena
- Medne, Livija
- Mikat, Barbara
- Milani, Donatella
- Onesimo, Roberta
- Ortiz‐Gonzalez, Xilma
- Prott, Eva Christina
- Reutter, Heiko
- Rossier, Eva
- Selicorni, Angelo
- Wieacker, Peter
- Wilkens, Alisha
- Wieczorek, Dagmar
- Zackai, Elaine H.
- Zampino, Giuseppe
- Zirn, Birgit
- Hakonarson, Hakon
- Deardorff, Matthew A.
- Gillessen‐Kaesbach, Gabriele
- Kaiser, Frank J.
2021
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Human molecular genetics, 2020-01, Vol.29 (2), p.305-319
2020
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