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Genetics in medicine, 2018-12, Vol.20 (12), p.1564-1574
- Ewans, Lisa J.
- Schofield, Deborah
- Shrestha, Rupendra
- Zhu, Ying
- Gayevskiy, Velimir
- Ying, Kevin
- Walsh, Corrina
- Lee, Eric
- Kirk, Edwin P
- Colley, Alison
- Ellaway, Carolyn
- Turner, Anne
- Mowat, David
- Worgan, Lisa
- Freckmann, Mary-Louise
- Lipke, Michelle
- Sachdev, Rani
- Miller, David
- Field, Michael
- Dinger, Marcel E.
- Buckley, Michael F.
- Cowley, Mark J
- Roscioli, Tony
2018
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PloS one, 2010-01, Vol.5 (1), p.e8803-e8803
2010
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European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1203-1208
2012
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American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1935-1941
- Thomas‐Wilson, Amanda
- Schacht, John P.
- Chitayat, David
- Blaser, Susan
- Santos, Francis Jeshira Reynoso
- Glaser, Kimberly
- Caffo, Alesky
- Wentzensen, Ingrid M.
- Henderson, Lindsay B.
- Zhang, Futao
- Zhu, Ying
- Di Corleto, Ellen
- da Silva Costa, Fabricio
- Vink, Rebecca
- Alkhunaizi, Ebba
- Russell, Laura
- Buckley, Michael F.
- Roscioli, Tony
- Pereira, Elaine Maria
- Ganapathi, Mythily
2023
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PLoS genetics, 2011-09, Vol.7 (9), p.e1002278
- Vissers, Lisenka E L M
- Cox, Timothy C
- Maga, A Murat
- Short, Kieran M
- Wiradjaja, Fenny
- Janssen, Irene M
- Jehee, Fernanda
- Bertola, Debora
- Liu, Jia
- Yagnik, Garima
- Sekiguchi, Kiyotoshi
- Kiyozumi, Daiji
- van Bokhoven, Hans
- Marcelis, Carlo
- Cunningham, Michael L
- Anderson, Peter J
- Boyadjiev, Simeon A
- Passos-Bueno, Maria Rita
- Veltman, Joris A
- Smyth, Ian
- Buckley, Michael F
- Roscioli, Tony
- van Heyningen, Veronica
2011
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European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.763-767
2017
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JAMA : the journal of the American Medical Association, 2020-06, Vol.323 (24), p.2503
- Lunke, Sebastian
- Eggers, Stefanie
- Wilson, Meredith
- Patel, Chirag
- Barnett, Christopher P
- Pinner, Jason
- Sandaradura, Sarah A
- Buckley, Michael F
- Krzesinski, Emma I
- de Silva, Michelle G
- Brett, Gemma R
- Boggs, Kirsten
- Mowat, David
- Kirk, Edwin P
- Adès, Lesley C
- Akesson, Lauren S
- Amor, David J
- Ayres, Samantha
- Baxendale, Anne
- Borrie, Sarah
- Bray, Alessandra
- Brown, Natasha J
- Chan, Cheng Yee
- Chong, Belinda
- Cliffe, Corrina
- Delatycki, Martin B
- Edwards, Matthew
- Elakis, George
- Fahey, Michael C
- Fennell, Andrew
- Fowles, Lindsay
- Gallacher, Lyndon
- Higgins, Megan
- Howell, Katherine B
- Hunt, Lauren
- Hunter, Matthew F
- Jones, Kristi J
- King, Sarah
- Kumble, Smitha
- Lang, Sarah
- Le Moing, Maelle
- Ma, Alan
- Phelan, Dean
- Quinn, Michael C J
- Richards, Anna
- Richmond, Christopher M
- Riseley, Jessica
- Rodgers, Jonathan
- Sachdev, Rani
- Sadedin, Simon
- Schlapbach, Luregn J
- Smith, Janine
- Springer, Amanda
- Tan, Natalie B
- Tan, Tiong Y
- Temple, Suzanna L
- Theda, Christiane
- Vasudevan, Anand
- White, Susan M
- Yeung, Alison
- Zhu, Ying
- Martyn, Melissa
- Best, Stephanie
- Roscioli, Tony
- Christodoulou, John
- Stark, Zornitza
2020
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Genes, 2020-04, Vol.11 (4), p.391
2020
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Journal of paediatrics and child health, 2011-10, Vol.47 (10), p.711-716
2011
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American journal of human genetics, 2018-06, Vol.102 (6), p.1143-1157
- Cox, Liza L.
- Cox, Timothy C.
- Moreno Uribe, Lina M.
- Zhu, Ying
- Richter, Chika T.
- Nidey, Nichole
- Standley, Jennifer M.
- Deng, Mei
- Blue, Elizabeth
- Chong, Jessica X.
- Yang, Yueqin
- Carstens, Russ P.
- Anand, Deepti
- Lachke, Salil A.
- Smith, Joshua D.
- Dorschner, Michael O.
- Bedell, Bruce
- Kirk, Edwin
- Hing, Anne V.
- Venselaar, Hanka
- Valencia-Ramirez, Luz C.
- Bamshad, Michael J.
- Glass, Ian A.
- Cooper, Jonathan A.
- Haan, Eric
- Nickerson, Deborah A.
- van Bokhoven, Hans
- Zhou, Huiqing
- Krahn, Katy N.
- Buckley, Michael F.
- Murray, Jeffrey C.
- Lidral, Andrew C.
- Roscioli, Tony
2018
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Journal of allergy and clinical immunology, 2021-08, Vol.148 (2), p.381-393
- Vavassori, Stefano
- Chou, Janet
- Faletti, Laura Eva
- Haunerdinger, Veronika
- Opitz, Lennart
- Joset, Pascal
- Fraser, Christopher J.
- Prader, Seraina
- Gao, Xianfei
- Schuch, Luise A.
- Wagner, Matias
- Hoefele, Julia
- Maccari, Maria Elena
- Zhu, Ying
- Elakis, George
- Gabbett, Michael T.
- Forstner, Maria
- Omran, Heymut
- Kaiser, Thomas
- Kessler, Christina
- Olbrich, Heike
- Frosk, Patrick
- Almutairi, Abduarahman
- Platt, Craig D.
- Elkins, Megan
- Weeks, Sabrina
- Rubin, Tamar
- Planas, Raquel
- Marchetti, Tommaso
- Koovely, Danil
- Klämbt, Verena
- Soliman, Neveen A.
- von Hardenberg, Sandra
- Klemann, Christian
- Baumann, Ulrich
- Lenz, Dominic
- Klein-Franke, Andreas
- Schwemmle, Martin
- Huber, Michael
- Sturm, Ekkehard
- Hartleif, Steffen
- Häffner, Karsten
- Gimpel, Charlotte
- Brotschi, Barbara
- Laube, Guido
- Güngör, Tayfun
- Buckley, Michael F.
- Kottke, Raimund
- Staufner, Christian
- Hildebrandt, Friedhelm
- Reu-Hofer, Simone
- Moll, Solange
- Weber, Achim
- Kaur, Hundeep
- Ehl, Stephan
- Hiller, Sebastian
- Geha, Raif
- Roscioli, Tony
- Griese, Matthias
- Pachlopnik Schmid, Jana
2021
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Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis
- Keupp, Katharina
- Li, Yun
- Vargel, Ibrahim
- Hoischen, Alexander
- Richardson, Rebecca
- Neveling, Kornelia
- Alanay, Yasemin
- Uz, Elif
- Elcioğlu, Nursel
- Rachwalski, Martin
- Kamaci, Soner
- Tunçbilek, Gökhan
- Akin, Burcu
- Grötzinger, Joachim
- Konas, Ersoy
- Mavili, Emin
- Müller‐Newen, Gerhard
- Collmann, Hartmut
- Roscioli, Tony
- Buckley, Michael F.
- Yigit, Gökhan
- Gilissen, Christian
- Kress, Wolfram
- Veltman, Joris
- Hammerschmidt, Matthias
- Akarsu, Nurten A.
- Wollnik, Bernd
2013
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European journal of human genetics : EJHG, 2022-10, Vol.30 (10), p.1121-1131
- Ewans, Lisa J
- Minoche, Andre E
- Schofield, Deborah
- Shrestha, Rupendra
- Puttick, Clare
- Zhu, Ying
- Drew, Alexander
- Gayevskiy, Velimir
- Elakis, George
- Walsh, Corrina
- Adès, Lesley C
- Colley, Alison
- Ellaway, Carolyn
- Evans, Carey-Anne
- Freckmann, Mary-Louise
- Goodwin, Linda
- Hackett, Anna
- Kamien, Benjamin
- Kirk, Edwin P
- Lipke, Michelle
- Mowat, David
- Palmer, Elizabeth
- Rajagopalan, Sulekha
- Ronan, Anne
- Sachdev, Rani
- Stevenson, William
- Turner, Anne
- Wilson, Meredith
- Worgan, Lisa
- Morel-Kopp, Marie-Christine
- Field, Michael
- Buckley, Michael F
- Cowley, Mark J
- Dinger, Marcel E
- Roscioli, Tony
2022
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Human mutation, 2012-06, Vol.33 (6), p.963-972
- Neveling, Kornelia
- Collin, Rob W.J.
- Gilissen, Christian
- van Huet, Ramon A.C.
- Visser, Linda
- Kwint, Michael P.
- Gijsen, Sabine J.
- Zonneveld, Marijke N.
- Wieskamp, Nienke
- de Ligt, Joep
- Siemiatkowska, Anna M.
- Hoefsloot, Lies H.
- Buckley, Michael F.
- Kellner, Ulrich
- Branham, Kari E.
- den Hollander, Anneke I.
- Hoischen, Alexander
- Hoyng, Carel
- Klevering, B. Jeroen
- van den Born, L. Ingeborgh
- Veltman, Joris A.
- Cremers, Frans P.M.
- Scheffer, Hans
2012
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Nature genetics, 2012-12, Vol.44 (12), p.1360-1364
- JUSTICE, Cristina M
- YAGNIK, Garima
- KIMONIS, Virginia
- ROSCIOLI, Tony
- WALL, Steven A
- WILKIE, Andrew O. M
- STOLER, Joan
- RICHTSMEIER, Joan T
- HEUZE, Yann
- SANCHEZ-LARA, Pedro A
- BUCKLEY, Michael F
- DRUSCHEL, Charlotte M
- KIM, Yoonhee
- MILLS, James L
- CAGGANA, Michele
- ROMITTI, Paul A
- KAY, Denise M
- SENDERS, Craig
- TAUB, Peter J
- KLEIN, Ophir D
- BOGGAN, James
- ZWIENENBERG-LEE, Marike
- NAYDENOV, Cyrill
- PETER, Inga
- KIM, Jinoh
- WILSON, Alexander F
- BOYADJIEV, Simeon A
- WANG JABS, Ethylin
- ERAZO, Monica
- XIAOQIAN YE
- AINEHSAZAN, Edmond
- LISONG SHI
- CUNNINGHAM, Michael L
2012
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European journal of medical genetics, 2010-09, Vol.53 (5), p.309-313
2010
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American journal of human genetics, 2023-06, Vol.110 (6), p.963-978
- Rots, Dmitrijs
- Jakub, Taryn E.
- Keung, Crystal
- Jackson, Adam
- Banka, Siddharth
- Pfundt, Rolph
- de Vries, Bert B.A.
- van Jaarsveld, Richard H.
- Hopman, Saskia M.J.
- Valenzuela, Irene
- Hempel, Maja
- Bierhals, Tatjana
- Kortüm, Fanny
- Lecoquierre, Francois
- Goldenberg, Alice
- Hertz, Jens Michael
- Kibæk, Maria
- Prijoles, Eloise J.
- Stevenson, Roger E.
- Everman, David B.
- Patterson, Wesley G.
- Meng, Linyan
- Gijavanekar, Charul
- De Dios, Karl
- Lakhani, Shenela
- Levy, Tess
- Wieczorek, Dagmar
- Benke, Paul J.
- Lopez Garcia, María Soledad
- Perrier, Renee
- Sousa, Sergio B.
- Almeida, Pedro M.
- Isidor, Bertrand
- Deb, Wallid
- Schmanski, Andrew A.
- Abdul-Rahman, Omar
- Philippe, Christophe
- Bruel, Ange-Line
- Faivre, Laurence
- Thauvin, Christel
- Smits, Jeroen J.
- Garavelli, Livia
- Caraffi, Stefano G.
- Peluso, Francesca
- Royer, Erin
- Leeuwen, Lisette
- Stegmann, Alexander P.A.
- Stumpel, Constance T.R.M.
- Tiller, George E.
- Bosch, Daniëlle G.M.
- Potgieter, Stephanus T.
- Joss, Shelagh
- Splitt, Miranda
- Holden, Simon
- Prapa, Matina
- Foulds, Nicola
- Waltes, Regina
- Chiocchetti, Andreas G.
- Freitag, Christine M.
- De Rubeis, Silvia
- Buxbaum, Joseph
- Gelb, Bruce D.
- Branko, Aleksic
- Kushima, Itaru
- Howe, Jennifer
- Scherer, Stephen W.
- Arado, Alessia
- Baldo, Chiara
- Patat, Olivier
- Bénédicte, Demeer
- Lopergolo, Diego
- Santorelli, Filippo M.
- Dufke, Andreas
- Falb, Ruth J.
- Rieß, Angelika
- Krieg, Peter
- Spranger, Stephanie
- Iascone, Maria
- Josephi-Taylor, Sarah
- Roscioli, Tony
- Buckley, Michael F.
- Liebelt, Jan
- Dagli, Aditi I.
- Aten, Emmelien
- Hurst, Anna C.E.
- Suri, Mohnish
- Aliu, Ermal
- Naik, Sunil
- Coursimault, Juliette
- Nicolas, Gaël
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- Ibrahim, Veyan
- Top, Deniz
- Di Cara, Francesca
- Louie, Raymond J.
- Stolerman, Elliot
- Brunner, Han G.
- Vissers, Lisenka E.L.M.
- Kramer, Jamie M.
- Kleefstra, Tjitske
2023
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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
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- GILISSEN, Christian
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- RIEMERSMA, Moniek
- PFUNDT, Rolph
- VISSERS, Lisenka Elm
2012
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American journal of medical genetics. Part C, Seminars in medical genetics, 2023-09, Vol.193 (3), p.e32056
- Forwood, Caitlin
- Ashton, Katie
- Zhu, Ying
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- Riveros, Carlos
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- Robinson, Peter N
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- Sadikovic, Bekim
- Pinner, Jason
- Buckley, Michael F
- Roscioli, Tony
2023
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Genetics in medicine, 2024-05, Vol.26 (5), p.101076, Article 101076
- Dias, Kerith-Rae
- Shrestha, Rupendra
- Schofield, Deborah
- Evans, Carey-Anne
- O’Heir, Emily
- Zhu, Ying
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2024
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American journal of human genetics, 2023-03, Vol.110 (3), p.499-515
- Serey-Gaut, Margaux
- Cortes, Marisol
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2023
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Human mutation, 2019-10, Vol.40 (10), p.1813-1825
- Cox, Timothy C.
- Lidral, Andrew C.
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- Liu, Huan
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2019
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Molecular genetics and metabolism, 2015-11, Vol.116 (3), p.178-186
2015
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Human mutation, 2020-02, Vol.41 (2), p.449-464
- Cheng, Hanyin
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2020
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Genetics in medicine, 2023-07, Vol.25 (7), p.100861, Article 100861
- Kuroda, Yukiko
- Iwata-Otsubo, Aiko
- Dias, Kerith-Rae
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- Obuse, Chikashi
- Roscioli, Tony
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2023
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