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Cell, 2012-05, Vol.149 (4), p.912-922
2012
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The New England journal of medicine, 2013-05, Vol.368 (19), p.1809-1816
- Laine, Christine M
- Joeng, Kyu Sang
- Campeau, Philippe M
- Kiviranta, Riku
- Tarkkonen, Kati
- Grover, Monica
- Lu, James T
- Pekkinen, Minna
- Wessman, Maija
- Heino, Terhi J
- Nieminen-Pihala, Vappu
- Aronen, Mira
- Laine, Tero
- Kröger, Heikki
- Cole, William G
- Lehesjoki, Anna-Elina
- Nevarez, Lisette
- Krakow, Deborah
- Curry, Cynthia J.R
- Cohn, Daniel H
- Gibbs, Richard A
- Lee, Brendan H
- Mäkitie, Outi
2013
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American journal of human genetics, 2016-06, Vol.98 (6), p.1256-1265
- Twigg, Stephen R.F.
- Hufnagel, Robert B.
- Miller, Kerry A.
- Zhou, Yan
- McGowan, Simon J.
- Taylor, John
- Craft, Jude
- Taylor, Jenny C.
- Santoro, Stephanie L.
- Huang, Taosheng
- Hopkin, Robert J.
- Brady, Angela F.
- Clayton-Smith, Jill
- Clericuzio, Carol L.
- Grange, Dorothy K.
- Groesser, Leopold
- Hafner, Christian
- Horn, Denise
- Temple, I. Karen
- Dobyns, William B.
- Curry, Cynthia J.
- Jones, Marilyn C.
- Wilkie, Andrew O.M.
2016
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American journal of human genetics, 2013-07, Vol.93 (1), p.158-166
- Dyment, David A.
- Smith, Amanda C.
- Alcantara, Diana
- Schwartzentruber, Jeremy A.
- Basel-Vanagaite, Lina
- Curry, Cynthia J.
- Temple, I. Karen
- Reardon, William
- Mansour, Sahar
- Haq, Mushfequr R.
- Gilbert, Rodney
- Lehmann, Ordan J.
- Vanstone, Megan R.
- Beaulieu, Chandree L.
- Majewski, Jacek
- Bulman, Dennis E.
- O’Driscoll, Mark
- Boycott, Kym M.
- Innes, A. Micheil
2013
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Science (American Association for the Advancement of Science), 2008-02, Vol.319 (5864), p.816-819
- Rauch, Anita
- Thiel, Christian T
- Schindler, Detlev
- Wick, Ursula
- Crow, Yanick J
- Ekici, Arif B
- van Essen, Anthonie J
- Goecke, Timm O
- Al-Gazali, Lihadh
- Chrzanowska, Krystyna H
- Zweier, Christiane
- Brunner, Han G
- Becker, Kristin
- Curry, Cynthia J
- Dallapiccola, Bruno
- Devriendt, Koenraad
- Dörfler, Arnd
- Kinning, Esther
- Megarbane, André
- Meinecke, Peter
- Semple, Robert K
- Spranger, Stephanie
- Toutain, Annick
- Trembath, Richard C
- Voss, Egbert
- Wilson, Louise
- Hennekam, Raoul
- de Zegher, Francis
- Dörr, Helmuth-Günther
- Reis, André
2008
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Nature genetics, 2007-01, Vol.39 (1), p.75-79
- Tartaglia, Marco
- Gelb, Bruce D
- Pennacchio, Len A
- Zhao, Chen
- Yadav, Kamlesh K
- Fodale, Valentina
- Sarkozy, Anna
- Pandit, Bhaswati
- Oishi, Kimihiko
- Martinelli, Simone
- Schackwitz, Wendy
- Ustaszewska, Anna
- Martin, Joel
- Bristow, James
- Carta, Claudio
- Lepri, Francesca
- Neri, Cinzia
- Vasta, Isabella
- Gibson, Kate
- Curry, Cynthia J
- Siguero, Juan Pedro López
- Digilio, Maria Cristina
- Zampino, Giuseppe
- Dallapiccola, Bruno
- Bar-Sagi, Dafna
2007
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Nature communications, 2022-11, Vol.13 (1), p.6841-6841, Article 6841
- Fasano, Giulia
- Muto, Valentina
- Radio, Francesca Clementina
- Venditti, Martina
- Mosaddeghzadeh, Niloufar
- Coppola, Simona
- Paradisi, Graziamaria
- Zara, Erika
- Bazgir, Farhad
- Ziegler, Alban
- Chillemi, Giovanni
- Bertuccini, Lucia
- Tinari, Antonella
- Vetro, Annalisa
- Pantaleoni, Francesca
- Pizzi, Simone
- Conti, Libenzio Adrian
- Petrini, Stefania
- Bruselles, Alessandro
- Prandi, Ingrid Guarnetti
- Mancini, Cecilia
- Chandramouli, Balasubramanian
- Barth, Magalie
- Bris, Céline
- Milani, Donatella
- Selicorni, Angelo
- Macchiaiolo, Marina
- Gonfiantini, Michaela V
- Bartuli, Andrea
- Mariani, Riccardo
- Curry, Cynthia J
- Guerrini, Renzo
- Slavotinek, Anne
- Iascone, Maria
- Dallapiccola, Bruno
- Ahmadian, Mohammad Reza
- Lauri, Antonella
- Tartaglia, Marco
2022
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American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2422-2427
2017
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American journal of human genetics, 2012-03, Vol.90 (3), p.550-557
2012
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European journal of medical genetics, 2020-01, Vol.63 (1), p.103624-103624, Article 103624
2020
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American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2393-2406
2012
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Frontiers in molecular neuroscience, 2020-02, Vol.13, p.12-12
- Kumar, Raman
- Palmer, Elizabeth
- Gardner, Alison E
- Carroll, Renee
- Banka, Siddharth
- Abdelhadi, Ola
- Donnai, Dian
- Elgersma, Ype
- Curry, Cynthia J
- Gardham, Alice
- Suri, Mohnish
- Malla, Rishikesh
- Brady, Lauren Ilana
- Tarnopolsky, Mark
- Azmanov, Dimitar N
- Atkinson, Vanessa
- Black, Michael
- Baynam, Gareth
- Dreyer, Lauren
- Hayeems, Robin Z
- Marshall, Christian R
- Costain, Gregory
- Wessels, Marja W
- Baptista, Julia
- Drummond, James
- Leffler, Melanie
- Field, Michael
- Gecz, Jozef
2020
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Pediatric neurology, 2007-08, Vol.37 (2), p.99-107
2007
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American journal of medical genetics. Part A, 2005-08, Vol.137A (2), p.181-189
2005
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American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2139-2151
- Strehle, Eugen-Matthias
- Yu, Linbo
- Rosenfeld, Jill A.
- Donkervoort, Sandra
- Zhou, Yulin
- Chen, Tian-Jian
- Martinez, Jose E.
- Fan, Yao-Shan
- Barbouth, Deborah
- Zhu, Hongbo
- Vaglio, Alicia
- Smith, Rosemarie
- Stevens, Cathy A.
- Curry, Cynthia J.
- Ladda, Roger L.
- Fan, Zheng (Jane)
- Fox, Joyce E.
- Martin, Judith A.
- Abdel-Hamid, Hoda Z.
- McCracken, Elizabeth A.
- McGillivray, Barbara C.
- Masser-Frye, Diane
- Huang, Taosheng
2012
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Genetics in medicine, 2013-02, Vol.15 (2), p.153-156
2013
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Cell, 2014-09, Vol.159 (1), p.200-214
- Yamamoto, Shinya
- Jaiswal, Manish
- Charng, Wu-Lin
- Gambin, Tomasz
- Karaca, Ender
- Mirzaa, Ghayda
- Wiszniewski, Wojciech
- Sandoval, Hector
- Haelterman, Nele A.
- Xiong, Bo
- Zhang, Ke
- Bayat, Vafa
- David, Gabriela
- Li, Tongchao
- Chen, Kuchuan
- Gala, Upasana
- Harel, Tamar
- Pehlivan, Davut
- Penney, Samantha
- Vissers, Lisenka E.L.M.
- de Ligt, Joep
- Jhangiani, Shalini N.
- Xie, Yajing
- Tsang, Stephen H.
- Parman, Yesim
- Sivaci, Merve
- Battaloglu, Esra
- Muzny, Donna
- Wan, Ying-Wooi
- Liu, Zhandong
- Lin-Moore, Alexander T.
- Clark, Robin D.
- Curry, Cynthia J.
- Link, Nichole
- Schulze, Karen L.
- Boerwinkle, Eric
- Dobyns, William B.
- Allikmets, Rando
- Gibbs, Richard A.
- Chen, Rui
- Lupski, James R.
- Wangler, Michael F.
- Bellen, Hugo J.
2014
Link zum Volltext
Nature genetics, 2012-11, Vol.44 (11), p.1249-1254
- DOYLE, Alexander J
- DOYLE, Jefferson J
- NORRIS, Russell A
- HUSO, Nicholas D
- LEAHY, Dan
- MOHR, David W
- CAULFIELD, Mark J
- SCOTT, Alan F
- DESTREE, Anne
- HENNEKAM, Raoul C
- ARN, Pamela H
- CURRY, Cynthia J
- BESSLING, Seneca L
- VAN LAER, Lut
- MCCALLION, Andrew S
- LOESS, Bart L
- DIETZ, Harry C
- MARAGH, Samantha
- LINDSAY, Mark E
- SCHEPERS, Dorien
- GILLIS, Elisabeth
- MORTIER, Geert
- HOMFRAY, Tessa
- SAULS, Kimberly
2012
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American journal of medical genetics. Part A, 2023-11, Vol.191 (11), p.2693-2702
2023
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Brain (London, England : 1878), 2021-05, Vol.144 (5), p.1435-1450
- Vetro, Annalisa
- Nielsen, Hang N
- Holm, Rikke
- Hevner, Robert F
- Parrini, Elena
- Powis, Zoe
- Møller, Rikke S
- Bellan, Cristina
- Simonati, Alessandro
- Lesca, Gaétan
- Helbig, Katherine L
- Palmer, Elizabeth E
- Mei, Davide
- Ballardini, Elisa
- Haeringen, Arie Van
- Syrbe, Steffen
- Leuzzi, Vincenzo
- Cioni, Giovanni
- Curry, Cynthia J
- Costain, Gregory
- Santucci, Margherita
- Chong, Karen
- Mancini, Grazia M S
- Clayton-Smith, Jill
- A-Collaborators, Atp A/
- Bigoni, Stefania
- Scheffer, Ingrid E
- Dobyns, William B
- Vilsen, Bente
- Guerrini, Renzo
2021
Link zum Volltext
American journal of human genetics, 2019-09, Vol.105 (3), p.606-615
- Aldinger, Kimberly A.
- Timms, Andrew E.
- Thomson, Zachary
- Mirzaa, Ghayda M.
- Bennett, James T.
- Rosenberg, Alexander B.
- Roco, Charles M.
- Hirano, Matthew
- Abidi, Fatima
- Haldipur, Parthiv
- Cheng, Chi V.
- Collins, Sarah
- Park, Kaylee
- Zeiger, Jordan
- Overmann, Lynne M.
- Alkuraya, Fowzan S.
- Biesecker, Leslie G.
- Braddock, Stephen R.
- Cathey, Sara
- Cho, Megan T.
- Chung, Brian H.Y.
- Everman, David B.
- Zarate, Yuri A.
- Jones, Julie R.
- Schwartz, Charles E.
- Goldstein, Amy
- Hopkin, Robert J.
- Krantz, Ian D.
- Ladda, Roger L.
- Leppig, Kathleen A.
- McGillivray, Barbara C.
- Sell, Susan
- Wusik, Katherine
- Gleeson, Joseph G.
- Nickerson, Deborah A.
- Bamshad, Michael J.
- Gerrelli, Dianne
- Lisgo, Steven N.
- Seelig, Georg
- Ishak, Gisele E.
- Barkovich, A. James
- Curry, Cynthia J.
- Glass, Ian A.
- Millen, Kathleen J.
- Doherty, Dan
- Dobyns, William B.
2019
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American journal of medical genetics. Part A, 2008-12, Vol.146A (23), p.3038-3053
2008
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American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2646-2661
2020
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Genetics in medicine, 2020-12, Vol.22 (12), p.2125-2125
2020
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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
- Wang, Jiyong
- Foroutan, Aidin
- Richardson, Ellen
- Skinner, Steven A.
- Reilly, Jack
- Kerkhof, Jennifer
- Curry, Cynthia J.
- Tarpey, Patrick S.
- Robertson, Stephen P.
- Maystadt, Isabelle
- Keren, Boris
- Dixon, Joanne W.
- Skinner, Cindy
- Stapleton, Rachel
- Ruaud, Lyse
- Gumus, Evren
- Lakeman, Phillis
- Alders, Mariëlle
- Tedder, Matthew L.
- Schwartz, Charles E.
- Friez, Michael J.
- Sadikovic, Bekim
- Stevenson, Roger E.
2023
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