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American journal of human genetics, 2015-07, Vol.97 (1), p.67-74
2015
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Nature reviews. Genetics, 2016-01, Vol.17 (1), p.9
2016
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Human molecular genetics, 2009-10, Vol.18 (19), p.3579-3593
- Vissers, Lisenka E.L.M.
- Bhatt, Samarth S.
- Janssen, Irene M.
- Xia, Zhilian
- Lalani, Seema R.
- Pfundt, Rolph
- Derwinska, Katarzyna
- de Vries, Bert B.A.
- Gilissen, Christian
- Hoischen, Alexander
- Nesteruk, Monika
- Wisniowiecka-Kowalnik, Barbara
- Smyk, Marta
- Brunner, Han G.
- Cheung, Sau Wai
- van Kessel, Ad Geurts
- Veltman, Joris A.
- Stankiewicz, Pawel
2009
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American journal of human genetics, 2012-02, Vol.90 (2), p.290-294
2012
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Nature (London), 2014-07, Vol.511 (7509), p.344-347
- Gilissen, Christian
- Hehir-Kwa, Jayne Y
- Thung, Djie Tjwan
- van de Vorst, Maartje
- van Bon, Bregje W M
- Willemsen, Marjolein H
- Kwint, Michael
- Janssen, Irene M
- Hoischen, Alexander
- Schenck, Annette
- Leach, Richard
- Klein, Robert
- Tearle, Rick
- Bo, Tan
- Pfundt, Rolph
- Yntema, Helger G
- de Vries, Bert B A
- Kleefstra, Tjitske
- Brunner, Han G
- Vissers, Lisenka E L M
- Veltman, Joris A
2014
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Human molecular genetics, 2005-10, Vol.14 (suppl-2), p.R215-R223
2005
Link zum Volltext
Cell, 2014-07, Vol.158 (2), p.263-276
- Bernier, Raphael
- Golzio, Christelle
- Xiong, Bo
- Stessman, Holly A.
- Coe, Bradley P.
- Penn, Osnat
- Witherspoon, Kali
- Gerdts, Jennifer
- Baker, Carl
- Vulto-van Silfhout, Anneke T.
- Schuurs-Hoeijmakers, Janneke H.
- Fichera, Marco
- Bosco, Paolo
- Buono, Serafino
- Alberti, Antonino
- Failla, Pinella
- Peeters, Hilde
- Steyaert, Jean
- Vissers, Lisenka E.L.M.
- Francescatto, Ludmila
- Mefford, Heather C.
- Rosenfeld, Jill A.
- Bakken, Trygve
- O’Roak, Brian J.
- Pawlus, Matthew
- Moon, Randall
- Shendure, Jay
- Amaral, David G.
- Lein, Ed
- Rankin, Julia
- Romano, Corrado
- de Vries, Bert B.A.
- Katsanis, Nicholas
- Eichler, Evan E.
2014
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Npj genomic medicine, 2022-11, Vol.7 (1), p.65-65, Article 65
2022
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The New England journal of medicine, 2012-11, Vol.367 (20), p.1921-1929
- de Ligt, Joep
- Willemsen, Marjolein H
- van Bon, Bregje W.M
- Kleefstra, Tjitske
- Yntema, Helger G
- Kroes, Thessa
- Vulto-van Silfhout, Anneke T
- Koolen, David A
- de Vries, Petra
- Gilissen, Christian
- del Rosario, Marisol
- Hoischen, Alexander
- Scheffer, Hans
- de Vries, Bert B.A
- Brunner, Han G
- Veltman, Joris A
- Vissers, Lisenka E.L.M
2012
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Nature genetics, 2016-08, Vol.48 (8), p.935-939
2016
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Nature genetics, 2014-10, Vol.46 (10), p.1063-1071
- Coe, Bradley P
- Witherspoon, Kali
- Rosenfeld, Jill A
- van Bon, Bregje W M
- Vulto-van Silfhout, Anneke T
- Bosco, Paolo
- Friend, Kathryn L
- Baker, Carl
- Buono, Serafino
- Vissers, Lisenka E L M
- Schuurs-Hoeijmakers, Janneke H
- Hoischen, Alex
- Pfundt, Rolph
- Krumm, Nik
- Carvill, Gemma L
- Li, Deana
- Amaral, David
- Brown, Natasha
- Lockhart, Paul J
- Scheffer, Ingrid E
- Alberti, Antonino
- Shaw, Marie
- Pettinato, Rosa
- Tervo, Raymond
- de Leeuw, Nicole
- Reijnders, Margot R F
- Torchia, Beth S
- Peeters, Hilde
- O'Roak, Brian J
- Fichera, Marco
- Hehir-Kwa, Jayne Y
- Shendure, Jay
- Mefford, Heather C
- Haan, Eric
- Gécz, Jozef
- de Vries, Bert B A
- Romano, Corrado
- Eichler, Evan E
2014
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Genetics in medicine, 2017-09, Vol.19 (9), p.1055-1063
2017
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Nature genetics, 2010-12, Vol.42 (12), p.1109-1112
2010
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American journal of human genetics, 2017-09, Vol.101 (3), p.478-484
2017
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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
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Clinical chemistry (Baltimore, Md.), 2016-11, Vol.62 (11), p.1458-1464
2016
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Genetics in medicine, 2017-06, Vol.19 (6), p.667-675
- Pfundt, Rolph
- Del Rosario, Marisol
- Vissers, Lisenka E L M
- Kwint, Michael P
- Janssen, Irene M
- de Leeuw, Nicole
- Yntema, Helger G
- Nelen, Marcel R
- Lugtenberg, Dorien
- Kamsteeg, Erik-Jan
- Wieskamp, Nienke
- Stegmann, Alexander P A
- Stevens, Servi J C
- Rodenburg, Richard J T
- Simons, Annet
- Mensenkamp, Arjen R
- Rinne, Tuula
- Gilissen, Christian
- Scheffer, Hans
- Veltman, Prof Dr, Joris A
- Hehir-Kwa, Jayne Y
2017
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American journal of human genetics, 2014-08, Vol.95 (2), p.173-182
- Campbell, Ian M.
- Yuan, Bo
- Robberecht, Caroline
- Pfundt, Rolph
- Szafranski, Przemyslaw
- McEntagart, Meriel E.
- Nagamani, Sandesh C.S.
- Erez, Ayelet
- Bartnik, Magdalena
- Wiśniowiecka-Kowalnik, Barbara
- Plunkett, Katie S.
- Pursley, Amber N.
- Kang, Sung-Hae L.
- Bi, Weimin
- Lalani, Seema R.
- Bacino, Carlos A.
- Vast, Mala
- Marks, Karen
- Patton, Michael
- Olofsson, Peter
- Patel, Ankita
- Veltman, Joris A.
- Cheung, Sau Wai
- Shaw, Chad A.
- Vissers, Lisenka E.L.M.
- Vermeesch, Joris R.
- Lupski, James R.
- Stankiewicz, Paweł
2014
Link zum Volltext
Nature genetics, 2014-04, Vol.46 (4), p.380-384
- Helsmoortel, Céline
- Vulto-van Silfhout, Anneke T
- Coe, Bradley P
- Vandeweyer, Geert
- Rooms, Liesbeth
- van den Ende, Jenneke
- Schuurs-Hoeijmakers, Janneke H M
- Marcelis, Carlo L
- Willemsen, Marjolein H
- Vissers, Lisenka E L M
- Yntema, Helger G
- Bakshi, Madhura
- Wilson, Meredith
- Witherspoon, Kali T
- Malmgren, Helena
- Nordgren, Ann
- Annerén, Göran
- Fichera, Marco
- Bosco, Paolo
- Romano, Corrado
- de Vries, Bert B A
- Kleefstra, Tjitske
- Kooy, R Frank
- Eichler, Evan E
- Van der Aa, Nathalie
2014
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American journal of human genetics, 2017-06, Vol.100 (6), p.907-925
- Gabriele, Michele
- Vulto-van Silfhout, Anneke T.
- Germain, Pierre-Luc
- Vitriolo, Alessandro
- Kumar, Raman
- Douglas, Evelyn
- Haan, Eric
- Kosaki, Kenjiro
- Takenouchi, Toshiki
- Rauch, Anita
- Steindl, Katharina
- Frengen, Eirik
- Misceo, Doriana
- Pedurupillay, Christeen Ramane J.
- Stromme, Petter
- Rosenfeld, Jill A.
- Shao, Yunru
- Craigen, William J.
- Schaaf, Christian P.
- Rodriguez-Buritica, David
- Farach, Laura
- Friedman, Jennifer
- Thulin, Perla
- McLean, Scott D.
- Nugent, Kimberly M.
- Morton, Jenny
- Nicholl, Jillian
- Andrieux, Joris
- Stray-Pedersen, Asbjørg
- Chambon, Pascal
- Patrier, Sophie
- Lynch, Sally A.
- Kjaergaard, Susanne
- Tørring, Pernille M.
- Brasch-Andersen, Charlotte
- Ronan, Anne
- van Haeringen, Arie
- Anderson, Peter J.
- Powis, Zöe
- Brunner, Han G.
- Pfundt, Rolph
- Schuurs-Hoeijmakers, Janneke H.M.
- van Bon, Bregje W.M.
- Lelieveld, Stefan
- Gilissen, Christian
- Nillesen, Willy M.
- Vissers, Lisenka E.L.M.
- Gecz, Jozef
- Koolen, David A.
- Testa, Giuseppe
- de Vries, Bert B.A.
2017
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American journal of human genetics, 2016-04, Vol.98 (4), p.763-771
- Mencacci, Niccolò E.
- Kamsteeg, Erik-Jan
- Nakashima, Kosuke
- R’Bibo, Lea
- Lynch, David S.
- Balint, Bettina
- Willemsen, Michèl A.A.P.
- Adams, Matthew E.
- Wiethoff, Sarah
- Suzuki, Kazunori
- Davies, Ceri H.
- Ng, Joanne
- Meyer, Esther
- Veneziano, Liana
- Giunti, Paola
- Hughes, Deborah
- Raymond, F. Lucy
- Carecchio, Miryam
- Zorzi, Giovanna
- Nardocci, Nardo
- Barzaghi, Chiara
- Garavaglia, Barbara
- Salpietro, Vincenzo
- Hardy, John
- Pittman, Alan M.
- Houlden, Henry
- Kurian, Manju A.
- Kimura, Haruhide
- Vissers, Lisenka E.L.M.
- Wood, Nicholas W.
- Bhatia, Kailash P.
2016
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Nature genetics, 2011-08, Vol.43 (8), p.729-731
- Brunner, Han G
- Hoischen, Alexander
- van Bon, Bregje W M
- Rodríguez-Santiago, Benjamín
- Gilissen, Christian
- Vissers, Lisenka E L M
- de Vries, Petra
- Janssen, Irene
- van Lier, Bart
- Hastings, Rob
- Smithson, Sarah F
- Newbury-Ecob, Ruth
- Kjaergaard, Susanne
- Goodship, Judith
- McGowan, Ruth
- Bartholdi, Deborah
- Rauch, Anita
- Peippo, Maarit
- Cobben, Jan M
- Wieczorek, Dagmar
- Gillessen-Kaesbach, Gabriele
- Veltman, Joris A
- de Vries, Bert B B A
2011
Link zum Volltext
Nature genetics, 2012-05, Vol.44 (5), p.581-585
- ROSCIOLI, Tony
- KAMSTEEG, Erik-Jan
- SCHRADERS, Margit
- ALTUNOGLU, Umut
- BUCKLEY, Michael F
- BRUNNER, Han G
- GRISART, Bernard
- HUIQING ZHOU
- VELTMAN, Joris A
- GILISSEN, Christian
- MANCINI, Grazia M. S
- DELREE, Paul
- BUYSSE, Karen
- WILLEMSEN, Michel A
- PETKOVIC RAMADZA, Danijela
- CHITAYAT, David
- BENNETT, Christopher
- SHERIDAN, Eamonn
- PEETERS, Els A. J
- TAN-SINDHUNATA, Gita M. B
- DE DIE-SMULDERS, Christine E
- DEVRIENDT, Koenraad
- KAYSERILI, Hülya
- MAYSTADT, Isabelle
- ABD EL-FATTAH EI-HASHASH, Osama
- STEMPLE, Derek L
- LEFEBER, Dirk J
- LIN, Yung-Yao
- BOKHOVEN, Hans Van
- REEUWIJK, Jeroen Van
- DEN ELZEN, Christa Van
- BEUSEKOM, Ellen Van
- RIEMERSMA, Moniek
- PFUNDT, Rolph
- VISSERS, Lisenka Elm
2012
Link zum Volltext
American journal of human genetics, 2012-07, Vol.91 (1), p.73-82
- Kleefstra, Tjitske
- Kramer, Jamie M.
- Neveling, Kornelia
- Willemsen, Marjolein H.
- Koemans, Tom S.
- Vissers, Lisenka E.L.M.
- Wissink-Lindhout, Willemijn
- Fenckova, Michaela
- van den Akker, Willem M.R.
- Kasri, Nael Nadif
- Nillesen, Willy M.
- Prescott, Trine
- Clark, Robin D.
- Devriendt, Koenraad
- van Reeuwijk, Jeroen
- de Brouwer, Arjan P.M.
- Gilissen, Christian
- Zhou, Huiqing
- Brunner, Han G.
- Veltman, Joris A.
- Schenck, Annette
- van Bokhoven, Hans
2012
Link zum Volltext
The Journal of clinical investigation, 2014-04, Vol.124 (4), p.1468-1482
- Tucci, Valter
- Kleefstra, Tjitske
- Hardy, Andrea
- Heise, Ines
- Maggi, Silvia
- Willemsen, Marjolein H
- Hilton, Helen
- Esapa, Chris
- Simon, Michelle
- Buenavista, Maria-Teresa
- McGuffin, Liam J
- Vizor, Lucie
- Dodero, Luca
- Tsaftaris, Sotirios
- Romero, Rosario
- Nillesen, Willy N
- Vissers, Lisenka E L M
- Kempers, Marlies J
- Vulto-van Silfhout, Anneke T
- Iqbal, Zafar
- Orlando, Marta
- Maccione, Alessandro
- Lassi, Glenda
- Farisello, Pasqualina
- Contestabile, Andrea
- Tinarelli, Federico
- Nieus, Thierry
- Raimondi, Andrea
- Greco, Barbara
- Cantatore, Daniela
- Gasparini, Laura
- Berdondini, Luca
- Bifone, Angelo
- Gozzi, Alessandro
- Wells, Sara
- Nolan, Patrick M
2014
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