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European journal of human genetics : EJHG, 2012-08, Vol.20 (8), p.852-856
2012
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Proceedings of the National Academy of Sciences - PNAS, 2009-09, Vol.106 (35), p.14820-14824
2009
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Prenatal diagnosis, 2023-03, Vol.43 (3), p.318-327
2023
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American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1376-1382
2019
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American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2335-2338
2010
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American journal on intellectual and developmental disabilities, 2020-11, Vol.125 (6), p.475-480
- Farmer, Cristan A
- Kaat, Aaron J
- Thurm, Audrey
- Anselm, Irina
- Akshoomoff, Natacha
- Bennett, Amanda
- Berry, Leandra
- Bruchey, Aleksandra
- Barshop, Bruce A
- Berry-Kravis, Elizabeth
- Bianconi, Simona
- Cecil, Kim M
- Davis, Robert J
- Ficicioglu, Can
- Porter, Forbes D
- Wainer, Allison
- Goin-Kochel, Robin P
- Leonczyk, Caroline
- Guthrie, Whitney
- Koeberl, Dwight
- Love-Nichols, Jamie
- Mamak, Eva
- Mercimek-Andrews, Saadet
- Thomas, Rebecca P
- Spiridigliozzi, Gail A
- Sullivan, Nancy
- Sutton, Vernon R
- Udhnani, Manisha D
- Waisbren, Susan E
- Miller, Judith S
2020
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American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.697-704
- Machol, Keren
- Hadley, Trevor D.
- Schmidt, Jake
- Cuthbertson, David
- Traboulsi, Henri
- Silva, Rodrigo C.
- Citron, Chloe
- Khan, Sobiah
- Citron, Kate
- Carter, Erin
- Brookler, Kenneth
- Shapiro, Jay R.
- Steiner, Robert D.
- Byers, Peter H.
- Glorieux, Francis H.
- Durigova, Michaela
- Smith, Peter
- Bober, Michael B.
- Sutton, Vernon R.
- Lee, Brendan H.
- Nagamani, Sandesh C. S.
- Raggio, Cathleen
2020
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Genetics in medicine, 2008-04, Vol.10 (4), p.267-277
2008
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Pediatric blood & cancer, 2011-08, Vol.57 (2), p.321-323
2011
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The Journal of pediatrics, 2007-04, Vol.150 (4), p.434-438
2007
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Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107415, Article 107415
2023
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Molecular genetics & genomic medicine, 2017-03, Vol.5 (2), p.117-121
2017
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American journal of medical genetics. Part A, 2008-06, Vol.146A (11), p.1395-1405
2008
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Molecular genetics & genomic medicine, 2017-03, Vol.5 (2), p.117-121
2017
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Clinical EEG and neuroscience, 2012-01, Vol.43 (1), p.64
2012
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Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110023, Article 110023
2024
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Journal of medical genetics, 2021-01, Vol.58 (1), p.41
- Zhao, Sen
- Zhang, Yuanqiang
- Chen, Weisheng
- Li, Weiyu
- Wang, Shengru
- Wang, Lianlei
- Zhao, Yanxue
- Lin, Mao
- Ye, Yongyu
- Lin, Jiachen
- Zheng, Yu
- Liu, Jiaqi
- Zhao, Hengqiang
- Yan, Zihui
- Yang, Yongxin
- Huang, Yingzhao
- Lin, Guanfeng
- Chen, Zefu
- Zhang, Zhen
- Liu, Sen
- Jin, Lichao
- Wang, Zhaoyang
- Chen, Jingdan
- Niu, Yuchen
- Li, Xiaoxin
- Wu, Yong
- Wang, Yipeng
- Du, Renqian
- Gao, Na
- Zhao, Hong
- Yang, Ying
- Liu, Ying
- Tian, Ye
- Li, Wenli
- Zhao, Yu
- Liu, Jia
- Yu, Bin
- Zhang, Na
- Yu, Keyi
- Yang, Xu
- Li, Shugang
- Xu, Yuan
- Hu, Jianhua
- Liu, Zhe
- Shen, Jianxiong
- Zhang, Shuyang
- Su, Jianzhong
- Khanshour, Anas M
- Kidane, Yared H
- Ramo, Brandon
- Rios, Jonathan J
- Liu, Pengfei
- Sutton, V Reid
- Posey, Jennifer E
- Wu, Zhihong
- Qiu, Guixing
- Wise, Carol A
- Zhang, Feng
- Lupski, James R
- Zhang, Jianguo
- Wu, Nan
2021
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American journal of human genetics, 2017-11, Vol.101 (5), p.768-788
- Küry, Sébastien
- van Woerden, Geeske M.
- Besnard, Thomas
- Proietti Onori, Martina
- Latypova, Xénia
- Towne, Meghan C.
- Cho, Megan T.
- Ploeg, Melissa A.
- Sanders, Stephan
- Stessman, Holly A.F.
- Pujol, Aurora
- Distel, Ben
- Robak, Laurie A.
- Bernstein, Jonathan A.
- Denommé-Pichon, Anne-Sophie
- Lesca, Gaëtan
- Sellars, Elizabeth A.
- Berg, Jonathan
- Carré, Wilfrid
- Busk, Øyvind Løvold
- van Bon, Bregje W.M.
- Waugh, Jeff L.
- Deardorff, Matthew
- Hoganson, George E.
- Bosanko, Katherine B.
- Johnson, Diana S.
- Dabir, Tabib
- Holla, Øystein Lunde
- Sarkar, Ajoy
- Tveten, Kristian
- de Bellescize, Julitta
- Braathen, Geir J.
- Terhal, Paulien A.
- Grange, Dorothy K.
- van Haeringen, Arie
- Lam, Christina
- Mirzaa, Ghayda
- Burton, Jennifer
- Bhoj, Elizabeth J.
- Douglas, Jessica
- Santani, Avni B.
- Nesbitt, Addie I.
- Helbig, Katherine L.
- Andrews, Marisa V.
- Begtrup, Amber
- Tang, Sha
- van Gassen, Koen L.I.
- Juusola, Jane
- Foss, Kimberly
- Enns, Gregory M.
- Moog, Ute
- Hinderhofer, Katrin
- Paramasivam, Nagarajan
- Lincoln, Sharyn
- Kusako, Brandon H.
- Lindenbaum, Pierre
- Charpentier, Eric
- Nowak, Catherine B.
- Cherot, Elouan
- Simonet, Thomas
- Ruivenkamp, Claudia A.L.
- Hahn, Sihoun
- Brownstein, Catherine A.
- Xia, Fan
- Schmitt, Sébastien
- Deb, Wallid
- Bonneau, Dominique
- Nizon, Mathilde
- Chelly, Jamel
- Rudolf, Gabrielle
- Sanlaville, Damien
- Parent, Philippe
- Gilbert-Dussardier, Brigitte
- Toutain, Annick
- Sutton, Vernon R.
- Thies, Jenny
- Peart-Vissers, Lisenka E.L.M.
- Boisseau, Pierre
- Vincent, Marie
- Grabrucker, Andreas M.
- Dubourg, Christèle
- Tan, Wen-Hann
- Verbeek, Nienke E.
- Granzow, Martin
- Santen, Gijs W.E.
- Shendure, Jay
- Pasquier, Laurent
- Redon, Richard
- Yang, Yaping
- State, Matthew W.
- Kleefstra, Tjitske
- Cogné, Benjamin
- Petrovski, Slavé
- Retterer, Kyle
- Eichler, Evan E.
- Rosenfeld, Jill A.
- Agrawal, Pankaj B.
- Bézieau, Stéphane
- Odent, Sylvie
- Mercier, Sandra
2017
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American journal of human genetics, 2018-05, Vol.102 (5), p.985-994
- Cheng, Hanyin
- Dharmadhikari, Avinash V.
- Varland, Sylvia
- Ma, Ning
- Domingo, Deepti
- Kleyner, Robert
- Rope, Alan F.
- Yoon, Margaret
- Stray-Pedersen, Asbjørg
- Posey, Jennifer E.
- Crews, Sarah R.
- Eldomery, Mohammad K.
- Akdemir, Zeynep Coban
- Lewis, Andrea M.
- Sutton, Vernon R.
- Rosenfeld, Jill A.
- Conboy, Erin
- Agre, Katherine
- Xia, Fan
- Walkiewicz, Magdalena
- Longoni, Mauro
- High, Frances A.
- van Slegtenhorst, Marjon A.
- Mancini, Grazia M.S.
- Finnila, Candice R.
- van Haeringen, Arie
- den Hollander, Nicolette
- Ruivenkamp, Claudia
- Naidu, Sakkubai
- Mahida, Sonal
- Palmer, Elizabeth E.
- Murray, Lucinda
- Lim, Derek
- Jayakar, Parul
- Parker, Michael J.
- Giusto, Stefania
- Stracuzzi, Emanuela
- Romano, Corrado
- Beighley, Jennifer S.
- Bernier, Raphael A.
- Küry, Sébastien
- Nizon, Mathilde
- Corbett, Mark A.
- Shaw, Marie
- Gardner, Alison
- Barnett, Christopher
- Armstrong, Ruth
- Kassahn, Karin S.
- Van Dijck, Anke
- Vandeweyer, Geert
- Kleefstra, Tjitske
- Schieving, Jolanda
- Jongmans, Marjolijn J.
- de Vries, Bert B.A.
- Pfundt, Rolph
- Kerr, Bronwyn
- Rojas, Samantha K.
- Boycott, Kym M.
- Person, Richard
- Willaert, Rebecca
- Eichler, Evan E.
- Kooy, R. Frank
- Yang, Yaping
- Wu, Joseph C.
- Lupski, James R.
- Arnesen, Thomas
- Cooper, Gregory M.
- Chung, Wendy K.
- Gecz, Jozef
- Stessman, Holly A.F.
- Meng, Linyan
- Lyon, Gholson J.
2018
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American journal of human genetics, 2019-03, Vol.104 (3), p.530-541
- Cogné, Benjamin
- Ehresmann, Sophie
- Beauregard-Lacroix, Eliane
- Rousseau, Justine
- Besnard, Thomas
- Garcia, Thomas
- Petrovski, Slavé
- Avni, Shiri
- McWalter, Kirsty
- Blackburn, Patrick R.
- Sanders, Stephan J.
- Uguen, Kévin
- Harris, Jacqueline
- Cohen, Julie S.
- Blyth, Moira
- Lehman, Anna
- Berg, Jonathan
- Li, Mindy H.
- Kini, Usha
- Joss, Shelagh
- von der Lippe, Charlotte
- Gordon, Christopher T.
- Sutton, Vernon R.
- Johnston, Jennifer J.
- Poduri, Annapurna
- Nordenskjöld, Magnus
- Shashi, Vandana
- Gerkes, Erica H.
- Bongers, Ernie M.H.F.
- Gilissen, Christian
- Zarate, Yuri A.
- Kvarnung, Malin
- Lally, Kevin P.
- Kulch, Peggy A.
- Daniels, Brina
- Hernandez-Garcia, Andres
- Stong, Nicholas
- Retterer, Kyle
- Sullivan, Jennifer
- Geisheker, Madeleine R.
- Stray-Pedersen, Asbjorg
- Tarpinian, Jennifer M.
- Sapp, Julie C.
- Zyskind, Jacob
- Holla, Øystein L.
- Bedoukian, Emma
- Filippini, Francesca
- Guimier, Anne
- Picard, Arnaud
- Busk, Øyvind L.
- Punetha, Jaya
- Pfundt, Rolph
- Lindstrand, Anna
- Nordgren, Ann
- Kalb, Fayth
- Desai, Megha
- Ebanks, Ashley Harmon
- Jhangiani, Shalini N.
- Zackai, Elaine H.
- Begtrup, Amber
- Song, Xiaofei
- Toutain, Annick
- Wentzensen, Ingrid M.
- Odent, Sylvie
- Bonneau, Dominique
- Latypova, Xénia
- Deb, Wallid
- Redon, Sylvia
- Bilan, Frédéric
- Legendre, Marine
- Troyer, Caitlin
- Whitlock, Kerri
- Caluseriu, Oana
- Pichurin, Pavel N.
- Gavrilova, Ralitza
- Rinne, Tuula
- Park, Meredith
- Shain, Catherine
- Heinzen, Erin L.
- Xiao, Rui
- Amiel, Jeanne
- Isidor, Bertrand
- Biesecker, Leslie G.
- Lowenstein, Dan
- Posey, Jennifer E.
- Denommé-Pichon, Anne-Sophie
- Férec, Claude
- Yang, Xiang-Jiao
- Rosenfeld, Jill A.
- Gilbert-Dussardier, Brigitte
- Audebert-Bellanger, Séverine
- Stessman, Holly A.F.
- Nellaker, Christoffer
- Yang, Yaping
- Lupski, James R.
- Eichler, Evan E.
- Bolduc, Francois
- Bézieau, Stéphane
- Küry, Sébastien
- Campeau, Philippe M.
2019
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Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S70-S70
2020
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Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S158-S159
2020
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Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)
2019
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Frontiers in genetics, 2019-07, Vol.10, p.611-611
- Nellåker, Christoffer
- Alkuraya, Fowzan S
- Baynam, Gareth
- Bernier, Raphael A
- Bernier, Francois P J
- Boulanger, Vanessa
- Brudno, Michael
- Brunner, Han G
- Clayton-Smith, Jill
- Cogné, Benjamin
- Dawkins, Hugh J S
- deVries, Bert B A
- Douzgou, Sofia
- Dudding-Byth, Tracy
- Eichler, Evan E
- Ferlaino, Michael
- Fieggen, Karen
- Firth, Helen V
- FitzPatrick, David R
- Gration, Dylan
- Groza, Tudor
- Haendel, Melissa
- Hallowell, Nina
- Hamosh, Ada
- Hehir-Kwa, Jayne
- Hitz, Marc-Phillip
- Hughes, Mark
- Kini, Usha
- Kleefstra, Tjitske
- Kooy, R Frank
- Krawitz, Peter
- Küry, Sébastien
- Lees, Melissa
- Lyon, Gholson J
- Lyonnet, Stanislas
- Marcadier, Julien L
- Meyn, Stephen
- Moslerová, Veronika
- Politei, Juan M
- Poulton, Cathryn C
- Raymond, F Lucy
- Reijnders, Margot R F
- Robinson, Peter N
- Romano, Corrado
- Rose, Catherine M
- Sainsbury, David C G
- Schofield, Lyn
- Sutton, Vernon R
- Turnovec, Marek
- Van Dijck, Anke
- Van Esch, Hilde
- Wilkie, Andrew O M
2019
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Proceedings of the National Academy of Sciences - PNAS, 2009-09, Vol.106 (35), p.14820
2009
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