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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
Link zum Volltext
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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Genetics in medicine, 2013-02, Vol.15 (2), p.153-156
2013
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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, 2023-11, Vol.191 (11), p.2693-2702
2023
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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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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, 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, 2012-10, Vol.158A (10), p.2393-2406
2012
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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 medical genetics. Part A, 2020-11, Vol.182 (11), p.2646-2661
2020
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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 human genetics : EJHG, 2024-05, Vol.32 (7), p.864-870
2024
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Genetics in medicine, 2020-12, Vol.22 (12), p.2125-2125
2020
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Genetics in medicine, 2020-09, Vol.22 (9), p.1568-1568
2020
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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 human genetics, 2021-10, Vol.108 (10), p.2017-2023
- Lemire, Gabrielle
- Ito, Yoko A.
- Marshall, Aren E.
- Chrestian, Nicolas
- Stanley, Valentina
- Brady, Lauren
- Tarnopolsky, Mark
- Curry, Cynthia J.
- Hartley, Taila
- Mears, Wendy
- Derksen, Alexa
- Rioux, Nadie
- Laflamme, Nataly
- Hutchison, Harrol T.
- Pais, Lynn S.
- Zaki, Maha S.
- Sultan, Tipu
- Dane, Adrie D.
- Gleeson, Joseph G.
- Vaz, Frédéric M.
- Kernohan, Kristin D.
- Bernard, Geneviève
- Boycott, Kym M.
2021
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American journal of human genetics, 2019-09, Vol.105 (3), p.640-657
- 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.
2019
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Journal of medical genetics, 2016-06, Vol.53 (6), p.427-430
2016
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American journal of human genetics, 2023-02, Vol.110 (2), p.215-227
- Hiatt, Susan M.
- Trajkova, Slavica
- Sebastiano, Matteo Rossi
- Partridge, E. Christopher
- Abidi, Fatima E.
- Anderson, Ashlyn
- Ansar, Muhammad
- Antonarakis, Stylianos E.
- Azadi, Azadeh
- Bachmann-Gagescu, Ruxandra
- Bartuli, Andrea
- Benech, Caroline
- Berkowitz, Jennifer L.
- Betti, Michael J.
- Brusco, Alfredo
- Cannon, Ashley
- Caron, Giulia
- Chen, Yanmin
- Cochran, Meagan E.
- Coleman, Tanner F.
- Crenshaw, Molly M.
- Cuisset, Laurence
- Curry, Cynthia J.
- Darvish, Hossein
- Demirdas, Serwet
- Descartes, Maria
- Douglas, Jessica
- Dyment, David A.
- Elloumi, Houda Zghal
- Ermondi, Giuseppe
- Faoucher, Marie
- Farrow, Emily G.
- Felker, Stephanie A.
- Fisher, Heather
- Hurst, Anna C.E.
- Joset, Pascal
- Kelly, Melissa A.
- Kmoch, Stanislav
- Leadem, Benjamin R.
- Lyons, Michael J.
- Macchiaiolo, Marina
- Magner, Martin
- Mandrile, Giorgia
- Mattioli, Francesca
- McEown, Megan
- Meadows, Sarah K.
- Medne, Livija
- Meeks, Naomi J.L.
- Montgomery, Sarah
- Napier, Melanie P.
- Natowicz, Marvin
- Newberry, Kimberly M.
- Niceta, Marcello
- Noskova, Lenka
- Nowak, Catherine B.
- Noyes, Amanda G.
- Osmond, Matthew
- Prijoles, Eloise J.
- Pugh, Jada
- Pullano, Verdiana
- Quélin, Chloé
- Rahimi-Aliabadi, Simin
- Rauch, Anita
- Redon, Sylvia
- Reymond, Alexandre
- Schwager, Caitlin R.
- Sellars, Elizabeth A.
- Scheuerle, Angela E.
- Shukarova-Angelovska, Elena
- Skraban, Cara
- Stolerman, Elliot
- Sullivan, Bonnie R.
- Tartaglia, Marco
- Thiffault, Isabelle
- Uguen, Kevin
- Umaña, Luis A.
- van Bever, Yolande
- van der Crabben, Saskia N.
- van Slegtenhorst, Marjon A.
- Waisfisz, Quinten
- Washington, Camerun
- Rodan, Lance H.
- Myers, Richard M.
- Cooper, Gregory M.
2023
Link zum Volltext
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
Link zum Volltext
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
European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.420-427
- 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
2022
Link zum Volltext
American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2690-2718
2021
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