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Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.174-174, Article 174
2022
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Human mutation, 2009-05, Vol.30 (5), p.724-733
2009
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Proceedings of the National Academy of Sciences - PNAS, 2009-04, Vol.106 (14), p.5842-5847
2009
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European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.143-148
2018
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American journal of human genetics, 2010-10, Vol.87 (4), p.567-569
2010
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American journal of kidney diseases, 2021-03, Vol.77 (3), p.410-419
2021
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American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3084-3090
2010
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Nature reviews. Genetics, 2019-05, Vol.20 (5), p.299
2019
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Neurobiology of disease, 2021-03, Vol.150, p.105236-105236, Article 105236
2021
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Nature cell biology, 2017-10, Vol.19 (10), p.1178
2017
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Birth defects research, 2017-03, Vol.109 (4), p.251-253
2017
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Nature medicine, 2019-03, Vol.25 (3), p.439-447
- Zhang, Jinglan
- Li, Jianli
- Saucier, Jennifer B
- Feng, Yanming
- Jiang, Yanjun
- Sinson, Jefferson
- McCombs, Anne K
- Schmitt, Eric S
- Peacock, Sandra
- Chen, Stella
- Dai, Hongzheng
- Ge, Xiaoyan
- Wang, Guoli
- Shaw, Chad A
- Mei, Hui
- Breman, Amy
- Xia, Fan
- Yang, Yaping
- Purgason, Anne
- Pourpak, Alan
- Chen, Zhao
- Wang, Xia
- Wang, Yue
- Kulkarni, Shashikant
- Choy, Kwong Wai
- Wapner, Ronald J
- Van den Veyver, Ignatia B
- Beaudet, Arthur
- Parmar, Sheetal
- Wong, Lee-Jun
- Eng, Christine M
2019
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Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522
- Bachmann-Gagescu, R
- Dempsey, J C
- Phelps, I G
- O'Roak, B J
- Knutzen, D M
- Rue, T C
- Ishak, G E
- Isabella, C R
- Gorden, N
- Adkins, J
- Boyle, E A
- de Lacy, N
- O'Day, D
- Alswaid, A
- Ramadevi A, Radha
- Lingappa, L
- Lourenço, C
- Martorell, L
- Garcia-Cazorla, À
- Ozyürek, H
- Haliloğlu, G
- Tuysuz, B
- Topçu, M
- Chance, P
- Parisi, M A
- Glass, I A
- Shendure, J
- Doherty, D
2015
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Genetics in medicine, 2020-02, Vol.22 (2), p.245-257
2020
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American journal of human genetics, 2018-02, Vol.102 (2), p.309-320
- Martinelli, Simone
- Krumbach, Oliver H.F.
- Pantaleoni, Francesca
- Coppola, Simona
- Amin, Ehsan
- Pannone, Luca
- Nouri, Kazem
- Farina, Luciapia
- Dvorsky, Radovan
- Lepri, Francesca
- Buchholzer, Marcel
- Konopatzki, Raphael
- Walsh, Laurence
- Payne, Katelyn
- Pierpont, Mary Ella
- Vergano, Samantha Schrier
- Langley, Katherine G.
- Larsen, Douglas
- Farwell, Kelly D.
- Tang, Sha
- Mroske, Cameron
- Gallotta, Ivan
- Di Schiavi, Elia
- della Monica, Matteo
- Lugli, Licia
- Rossi, Cesare
- Seri, Marco
- Cocchi, Guido
- Henderson, Lindsay
- Baskin, Berivan
- Alders, Mariëlle
- Mendoza-Londono, Roberto
- Dupuis, Lucie
- Nickerson, Deborah A.
- Chong, Jessica X.
- Meeks, Naomi
- Brown, Kathleen
- Causey, Tahnee
- Cho, Megan T.
- Demuth, Stephanie
- Digilio, Maria Cristina
- Gelb, Bruce D.
- Bamshad, Michael J.
- Zenker, Martin
- Ahmadian, Mohammad Reza
- Hennekam, Raoul C.
- Tartaglia, Marco
- Mirzaa, Ghayda M.
2018
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American journal of human genetics, 2020-08, Vol.107 (2), p.330-341
- Liu, Chunyu
- Miyata, Haruhiko
- Gao, Yang
- Sha, Yanwei
- Tang, Shuyan
- Xu, Zoulan
- Whitfield, Marjorie
- Patrat, Catherine
- Wu, Huan
- Dulioust, Emmanuel
- Tian, Shixiong
- Shimada, Keisuke
- Cong, Jiangshan
- Noda, Taichi
- Li, Hang
- Morohoshi, Akane
- Cazin, Caroline
- Kherraf, Zine-Eddine
- Arnoult, Christophe
- Jin, Li
- He, Xiaojin
- Ray, Pierre F.
- Cao, Yunxia
- Touré, Aminata
- Zhang, Feng
- Ikawa, Masahito
2020
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Human molecular genetics, 2015-08, Vol.24 (15), p.4443-4453
2015
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Journal of medical genetics, 2019-02, Vol.56 (2), p.89
2019
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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.229-249
- Bachmann‐Gagescu, Ruxandra
- Dempsey, Jennifer C.
- Bulgheroni, Sara
- Chen, Maida L.
- D'Arrigo, Stefano
- Glass, Ian A.
- Heller, Theo
- Héon, Elise
- Hildebrandt, Friedhelm
- Joshi, Nirmal
- Knutzen, Dana
- Kroes, Hester Y.
- Mack, Stephen H.
- Nuovo, Sara
- Parisi, Melissa A.
- Snow, Joseph
- Summers, Angela C.
- Symons, Jordan M.
- Zein, Wadih M.
- Boltshauser, Eugen
- Sayer, John A.
- Gunay‐Aygun, Meral
- Valente, Enza Maria
- Doherty, Dan
2020
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Genetics in medicine, 2018-07, Vol.20 (7), p.745-753
- Boissel, Sarah
- Fallet-Bianco, Catherine
- Chitayat, David
- Kremer, Valérie
- Nassif, Christina
- Rypens, Françoise
- Delrue, Marie-Ange
- Dal Soglio, Dorothée
- Oligny, Luc L.
- Patey, Natalie
- Flori, Elisabeth
- Cloutier, Mireille
- Dyment, David
- Campeau, Philippe
- Karalis, Aspasia
- Nizard, Sonia
- Fraser, William D.
- Audibert, François
- Lemyre, Emmanuelle
- Rouleau, Guy A.
- Hamdan, Fadi F.
- Kibar, Zoha
- Michaud, Jacques L.
2018
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Genetics in medicine, 2017-08, Vol.19 (8), p.875-882
- Vilboux, Thierry
- Doherty, Daniel A
- Glass, Ian A
- Parisi, Melissa A
- Phelps, Ian G
- Cullinane, Andrew R
- Zein, Wadih
- Brooks, Brian P
- Heller, Theo
- Soldatos, Ariane
- Oden, Neal L
- Yildirimli, Deniz
- Vemulapalli, Meghana
- Mullikin, James C
- Nisc Comparative Sequencing Program
- Malicdan, May Christine V
- Gahl, William A
- Gunay-Aygun, Meral
2017
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Clinical cancer research, 2017-06, Vol.23 (12), p.e83-e90
2017
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Nature genetics, 2009-12, Vol.41 (12), p.1272-1274
- Vikkula, Mikka
- Al-Gazali, Lihadh
- Zwijnenburg, Petra J
- Alders, Marielle
- Hennekam, Raoul C
- Salehi, Faranak
- Gjini, Evisa
- Verheij, Joke B G M
- Hogan, Benjamin M
- Offerhaus, G Johan A
- Holmberg, Eva E
- Schulte-Merker, Stefan
- Hennekam, Eric A
- Schroor, Eelco J
- Mulder, Margot F
- Prescott, Trine E
- Witte, Merlijn
- Mannens, Marcel M A M
2009
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The Journal of immunology (1950), 2012-10, Vol.189 (8), p.3957-3969
2012
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Human molecular genetics, 2017-12, Vol.26 (23), p.4657-4667
2017
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