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Journal of dental research, 2010-05, Vol.89 (5), p.473-477
2010
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American journal of human genetics, 2021-10, Vol.108 (10), p.1981-2005
- Mitani, Tadahiro
- Isikay, Sedat
- Gezdirici, Alper
- Gulec, Elif Yilmaz
- Punetha, Jaya
- Fatih, Jawid M.
- Herman, Isabella
- Akay, Gulsen
- Du, Haowei
- Calame, Daniel G.
- Ayaz, Akif
- Tos, Tulay
- Yesil, Gozde
- Aydin, Hatip
- Geckinli, Bilgen
- Elcioglu, Nursel
- Candan, Sukru
- Sezer, Ozlem
- Erdem, Haktan Bagis
- Gul, Davut
- Demiral, Emine
- Elmas, Muhsin
- Yesilbas, Osman
- Kilic, Betul
- Gungor, Serdal
- Ceylan, Ahmet C.
- Bozdogan, Sevcan
- Ozalp, Ozge
- Cicek, Salih
- Aslan, Huseyin
- Yalcintepe, Sinem
- Topcu, Vehap
- Bayram, Yavuz
- Grochowski, Christopher M.
- Jolly, Angad
- Dawood, Moez
- Duan, Ruizhi
- Jhangiani, Shalini N.
- Doddapaneni, Harsha
- Hu, Jianhong
- Muzny, Donna M.
- Marafi, Dana
- Akdemir, Zeynep Coban
- Karaca, Ender
- Carvalho, Claudia M.B.
- Gibbs, Richard A.
- Posey, Jennifer E.
- Lupski, James R.
- Pehlivan, Davut
2021
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Cell, 2019-03, Vol.176 (6), p.1310-1324.e10
- Beck, Christine R.
- Carvalho, Claudia M.B.
- Akdemir, Zeynep C.
- Sedlazeck, Fritz J.
- Song, Xiaofei
- Meng, Qingchang
- Hu, Jianhong
- Doddapaneni, Harsha
- Chong, Zechen
- Chen, Edward S.
- Thornton, Philip C.
- Liu, Pengfei
- Yuan, Bo
- Withers, Marjorie
- Jhangiani, Shalini N.
- Kalra, Divya
- Walker, Kimberly
- English, Adam C.
- Han, Yi
- Chen, Ken
- Muzny, Donna M.
- Ira, Grzegorz
- Shaw, Chad A.
- Gibbs, Richard A.
- Hastings, P.J.
- Lupski, James R.
2019
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American journal of human genetics, 2018-08, Vol.103 (2), p.171-187
2018
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American journal of human genetics, 2016-03, Vol.98 (3), p.553-561
2016
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American journal of human genetics, 2018-06, Vol.102 (6), p.1126-1142
- Poli, M. Cecilia
- Ebstein, Frédéric
- Nicholas, Sarah K.
- de Guzman, Marietta M.
- Forbes, Lisa R.
- Chinn, Ivan K.
- Mace, Emily M.
- Vogel, Tiphanie P.
- Carisey, Alexandre F.
- Benavides, Felipe
- Coban-Akdemir, Zeynep H.
- Gibbs, Richard A.
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Carvalho, Claudia M.B.
- Schady, Deborah A.
- Jain, Mahim
- Rosenfeld, Jill A.
- Emrick, Lisa
- Lewis, Richard A.
- Lee, Brendan
- Zieba, Barbara A.
- Küry, Sébastien
- Krüger, Elke
- Lupski, James R.
- Bostwick, Bret L.
- Orange, Jordan S.
2018
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American journal of human genetics, 2018-01, Vol.102 (1), p.27-43
- White, Janson J.
- Mazzeu, Juliana F.
- Coban-Akdemir, Zeynep
- Bayram, Yavuz
- Bahrambeigi, Vahid
- Hoischen, Alexander
- van Bon, Bregje W.M.
- Gezdirici, Alper
- Gulec, Elif Yilmaz
- Ramond, Francis
- Touraine, Renaud
- Thevenon, Julien
- Shinawi, Marwan
- Beaver, Erin
- Heeley, Jennifer
- Hoover-Fong, Julie
- Durmaz, Ceren D.
- Karabulut, Halil Gurhan
- Marzioglu-Ozdemir, Ebru
- Cayir, Atilla
- Duz, Mehmet B.
- Seven, Mehmet
- Price, Susan
- Ferreira, Barbara Merfort
- Vianna-Morgante, Angela M.
- Ellard, Sian
- Parrish, Andrew
- Stals, Karen
- Flores-Daboub, Josue
- Jhangiani, Shalini N.
- Gibbs, Richard A.
- Brunner, Han G.
- Sutton, V. Reid
- Lupski, James R.
- Carvalho, Claudia M.B.
2018
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American journal of human genetics, 2014-05, Vol.94 (5), p.745-754
2014
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Nucleic acids research, 2017-02, Vol.45 (4), p.1633
- Gambin, Tomasz
- Akdemir, Zeynep C
- Yuan, Bo
- Gu, Shen
- Chiang, Theodore
- Carvalho, Claudia M B
- Shaw, Chad
- Jhangiani, Shalini
- Boone, Philip M
- Eldomery, Mohammad K
- Karaca, Ender
- Bayram, Yavuz
- Stray-Pedersen, Asbjørg
- Muzny, Donna
- Charng, Wu-Lin
- Bahrambeigi, Vahid
- Belmont, John W
- Boerwinkle, Eric
- Beaudet, Arthur L
- Gibbs, Richard A
- Lupski, James R
2017
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SAMJ: South African Medical Journal, 2024-02, Vol.114 (2), p.e1306-100
2024
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American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3593-3600
2021
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American journal of human genetics, 2017-07, Vol.101 (1), p.149-156
- Bayram, Yavuz
- White, Janson J.
- Elcioglu, Nursel
- Cho, Megan T.
- Zadeh, Neda
- Gedikbasi, Asuman
- Palanduz, Sukru
- Ozturk, Sukru
- Cefle, Kivanc
- Kasapcopur, Ozgur
- Coban Akdemir, Zeynep
- Pehlivan, Davut
- Begtrup, Amber
- Carvalho, Claudia M.B.
- Paine, Ingrid Sophie
- Mentes, Ali
- Bektas-Kayhan, Kivanc
- Karaca, Ender
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Gibbs, Richard A.
- Lupski, James R.
2017
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Journal of thoracic oncology, 2018-08, Vol.13 (8), p.1189-1203
- Galateau Salle, F.
- Le Stang, N.
- Nicholson, A.G.
- Pissaloux, D.
- Churg, A.
- Klebe, S.
- Roggli, V.L.
- Tazelaar, H.D.
- Vignaud, J.M.
- Attanoos, R.
- Beasley, M.B.
- Begueret, H.
- Capron, F.
- Chirieac, L.
- Copin, M.C.
- Dacic, S.
- Danel, C.
- Foulet-Roge, A.
- Gibbs, A.
- Giusiano-Courcambeck, S.
- Hiroshima, K.
- Hofman, V.
- Husain, A.N.
- Kerr, K.
- Marchevsky, A.
- Nabeshima, K.
- Picquenot, J.M.
- Rouquette, I.
- Sagan, C.
- Sauter, J.L.
- Thivolet, F.
- Travis, W.D.
- Tsao, M.S.
- Weynand, B.
- Damiola, F.
- Scherpereel, A.
- Pairon, J.C.
- Lantuejoul, S.
- Rusch, V.
- Girard, N.
2018
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Cell, 2017-02, Vol.168 (5), p.830-842.e7
- Liu, Pengfei
- Yuan, Bo
- Carvalho, Claudia M.B.
- Wuster, Arthur
- Walter, Klaudia
- Zhang, Ling
- Gambin, Tomasz
- Chong, Zechen
- Campbell, Ian M.
- Coban Akdemir, Zeynep
- Gelowani, Violet
- Writzl, Karin
- Bacino, Carlos A.
- Lindsay, Sarah J.
- Withers, Marjorie
- Gonzaga-Jauregui, Claudia
- Wiszniewska, Joanna
- Scull, Jennifer
- Stankiewicz, Paweł
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Zhang, Feng
- Chen, Ken
- Gibbs, Richard A.
- Rautenstrauss, Bernd
- Cheung, Sau Wai
- Smith, Janice
- Breman, Amy
- Shaw, Chad A.
- Patel, Ankita
- Hurles, Matthew E.
- Lupski, James R.
2017
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Genome medicine, 2022-10, Vol.14 (1), p.122-21, Article 122
- Du, Haowei
- Jolly, Angad
- Grochowski, Christopher M
- Yuan, Bo
- Dawood, Moez
- Jhangiani, Shalini N
- Li, He
- Muzny, Donna
- Fatih, Jawid M
- Coban-Akdemir, Zeynep
- Carlin, Mary Esther
- Scheuerle, Angela E
- Witzl, Karin
- Posey, Jennifer E
- Pendleton, Matthew
- Harrington, Eoghan
- Juul, Sissel
- Hastings, P J
- Bi, Weimin
- Gibbs, Richard A
- Sedlazeck, Fritz J
- Lupski, James R
- Carvalho, Claudia M B
- Liu, Pengfei
2022
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Human mutation, 2022-07, Vol.43 (7), p.900-918
- Lima, Ariadne R.
- Ferreira, Barbara M.
- Zhang, Chaofan
- Jolly, Angad
- Du, Haowei
- White, Janson J.
- Dawood, Moez
- Lins, Tulio C.
- Chiabai, Marcela A.
- Beusekom, Ellen
- Cordoba, Mara S.
- Caldas Rosa, Erica C.C.
- Kayserili, Hulya
- Kimonis, Virginia
- Wu, Erica
- Mellado, Cecilia
- Aggarwal, Vineet
- Richieri‐Costa, Antonio
- Brunoni, Décio
- Canó, Talyta M.
- Jorge, Alexander A. L.
- Kim, Chong A.
- Honjo, Rachel
- Bertola, Débora R.
- Dandalo‐Girardi, Raissa M.
- Bayram, Yavuz
- Gezdirici, Alper
- Yilmaz‐Gulec, Elif
- Gumus, Evren
- Yilmaz, Gülay C.
- Okamoto, Nobuhiko
- Ohashi, Hirofumi
- Coban–Akdemir, Zeynep
- Mitani, Tadahiro
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Regattieri, Neysa A.P.
- Pogue, Robert
- Pereira, Rinaldo W.
- Otto, Paulo A.
- Gibbs, Richard A.
- Ali, Bassam R.
- Bokhoven, Hans
- Brunner, Han G.
- Sutton, V. Reid
- Lupski, James R.
- Vianna‐Morgante, Angela M.
- Carvalho, Claudia M. B.
- Mazzeu, Juliana F.
2022
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The lancet respiratory medicine, 2021-06, Vol.9 (6), p.573-584
- Hoeper, Marius M
- Al-Hiti, Hikmet
- Benza, Raymond L
- Chang, Sung-A
- Corris, Paul A
- Gibbs, J Simon R
- Grünig, Ekkehard
- Jansa, Pavel
- Klinger, James R
- Langleben, David
- McLaughlin, Vallerie V
- Meyer, Gisela M B
- Ota-Arakaki, Jaquelina
- Pulido, Tomás
- Rosenkranz, Stephan
- Vizza, Carmine Dario
- Vonk-Noordegraaf, Anton
- White, R James
- Chang, Mikyung
- Meier, Christian
- Paraschin, Karen
- Ghofrani, Hossein Ardeschir
- Simonneau, Gérald
- Olschewski, H
- Delcroix, M
- Andrade-Lima, M
- de Amorim Corrêac, R
- Meyer, G
- De Souza, R
- Al-Hiti, H
- Jansa, P
- Mellemkjær, S
- Bauer, F
- Montani, D
- Simonneau, G
- Drömann, D
- Ghofrani, H-A
- Grünig, E
- Halank, M
- Held, M
- Hoeper, MM
- Klose, H
- Kneidinger, N
- Leuchte, H
- Opitz, C
- Rosenkranz, S
- Wirtz, H
- Karvounis, H
- Pitsiou, G
- Orfanos, S
- D'Alto, M
- Ghio, S
- Vitulo, P
- Maki, H
- Tatebe, S
- de los Rios Ibarra, M
- Pulido, T
- Van Dijk, A
- Vonk-Noordegraaf, A
- Roleder, T
- Castro, G
- Loureiro, MJ
- Robalo-Martins, S
- Barberá, JA
- Lázaro, M
- Perez-Penate, GM
- Román, A
- Cheng, C-C
- Hsu, H-H
- Atahan, E
- Mogulkoc Bishop, N
- Okumus, NG
- Onen, Z
- Chang, H-J
- Chang, S-A
- Lee, J-S
- Kim, H-K
- Coghlan, JG
- Corris, PA
- Church, AC
- Gibbs, JSR
- Peacock, AJ
- Wort, S
- Allen, S
- Awdish, R
- Benza, RL
- DeSouza, S
- Feldman, J
- Johri, S
- Klinger, JR
- Layish, D
- McConnell, J
- McLaughlin, VV
- Migliore, C
- Rahaghi, F
- Rischard, F
- Robbins, I
- Satterwhite, L
- Sulica, R
- White, RJ
2021
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Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S47-S47
2018
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American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.794-804
- Dawood, Moez
- Akay, Gulsen
- Mitani, Tadahiro
- Marafi, Dana
- Fatih, Jawid M.
- Gezdirici, Alper
- Najmabadi, Hossein
- Kahrizi, Kimia
- Punetha, Jaya
- Grochowski, Christopher M.
- Du, Haowei
- Jolly, Angad
- Li, He
- Coban‐Akdemir, Zeynep
- Sedlazeck, Fritz J.
- Hunter, Jill V.
- Jhangiani, Shalini N.
- Muzny, Donna
- Pehlivan, Davut
- Posey, Jennifer E.
- Carvalho, Claudia M. B.
- Gibbs, Richard A.
- Lupski, James R.
2023
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HGG advances, 2022-01, Vol.3 (1), p.100074, Article 100074
- Zhang, Chaofan
- Jolly, Angad
- Shayota, Brian J.
- Mazzeu, Juliana F.
- Du, Haowei
- Dawood, Moez
- Soper, Patricia Celestino
- Ramalho de Lima, Ariadne
- Ferreira, Bárbara Merfort
- Coban-Akdemir, Zeynep
- White, Janson
- Shears, Deborah
- Thomson, Fraser Robert
- Douglas, Sarah Louise
- Wainwright, Andrew
- Bailey, Kathryn
- Wordsworth, Paul
- Oldridge, Mike
- Lester, Tracy
- Calder, Alistair D.
- Dumic, Katja
- Banka, Siddharth
- Donnai, Dian
- Jhangiani, Shalini N.
- Potocki, Lorraine
- Chung, Wendy K.
- Mora, Sara
- Northrup, Hope
- Ashfaq, Myla
- Rosenfeld, Jill A.
- Mason, Kati
- Pollack, Lynda C.
- McConkie-Rosell, Allyn
- Kelly, Wei
- McDonald, Marie
- Hauser, Natalie S.
- Leahy, Peter
- Powell, Cynthia M.
- Boy, Raquel
- Honjo, Rachel Sayuri
- Kok, Fernando
- Martelli, Lucia R.
- Filho, Vicente Odone
- Genomics England Research Consortium
- Muzny, Donna M.
- Gibbs, Richard A.
- Posey, Jennifer E.
- Liu, Pengfei
- Lupski, James R.
- Sutton, V. Reid
- Carvalho, Claudia M.B.
2022
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Genome medicine, 2019-04, Vol.11 (1), p.25-25, Article 25
- Carvalho, Claudia M B
- Coban-Akdemir, Zeynep
- Hijazi, Hadia
- Yuan, Bo
- Pendleton, Matthew
- Harrington, Eoghan
- Beaulaurier, John
- Juul, Sissel
- Turner, Daniel J
- Kanchi, Rupa S
- Jhangiani, Shalini N
- Muzny, Donna M
- Gibbs, Richard A
- Stankiewicz, Pawel
- Belmont, John W
- Shaw, Chad A
- Cheung, Sau Wai
- Hanchard, Neil A
- Sutton, V Reid
- Bader, Patricia I
- Lupski, James R
2019
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Genetics in medicine, 2014-05, Vol.16 (5), p.386-394
2014
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Genetics in Medicine Open, 2024, Vol.2, p.101830, Article 101830
- Coban-Akdemir, Zeynep
- Song, Xiaofei
- Ceballos, Francisco C.
- Pehlivan, Davut
- Karaca, Ender
- Bayram, Yavuz
- Mitani, Tadahiro
- Gambin, Tomasz
- Bozkurt-Yozgatli, Tugce
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Lewis, Richard A.
- Liu, Pengfei
- Boerwinkle, Eric
- Hamosh, Ada
- Gibbs, Richard A.
- Sutton, V. Reid
- Sobreira, Nara
- Carvalho, Claudia M.B.
- Shaw, Chad A.
- Posey, Jennifer E.
- Valle, David
- Lupski, James R.
2024
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Cell genomics, 2024-07, Vol.4 (7), p.100590, Article 100590
- Grochowski, Christopher M.
- Bengtsson, Jesse D.
- Du, Haowei
- Gandhi, Mira
- Lun, Ming Yin
- Mehaffey, Michele G.
- Park, KyungHee
- Höps, Wolfram
- Benito, Eva
- Hasenfeld, Patrick
- Korbel, Jan O.
- Mahmoud, Medhat
- Paulin, Luis F.
- Jhangiani, Shalini N.
- Hwang, James Paul
- Bhamidipati, Sravya V.
- Muzny, Donna M.
- Fatih, Jawid M.
- Gibbs, Richard A.
- Pendleton, Matthew
- Harrington, Eoghan
- Juul, Sissel
- Lindstrand, Anna
- Sedlazeck, Fritz J.
- Pehlivan, Davut
- Lupski, James R.
- Carvalho, Claudia M.B.
2024
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American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2451-2455
- Jehee, Fernanda S.
- de Oliveira, Valdirene T.
- Gurgel‐Giannetti, Juliana
- Pietra, Rafaella X.
- Rubatino, Fernando V. M.
- Carobin, Natália V.
- Vianna, Gabrielle S.
- de Freitas, Mariana L.
- Fernandes, Karla S.
- Ribeiro, Beatriz S. V.
- Brüggenwirth, Hennie T.
- Ali‐Amin, Roza
- White, Janson J.
- Akdemir, Zeynep C.
- Jhangiani, Shalini N.
- Gibbs, Richard A.
- Lupski, James R.
- Varela, Monica C.
- Koiffmann, Célia
- Rosenberg, Carla
- Carvalho, Cláudia M. B.
2017
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