Publications:

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

American Journal Of Medical Genetics. Part A

Dyment, David A DA; O'Donnell-Luria, Anne A; Agrawal, Pankaj B PB; Coban Akdemir, Zeynep Z; Aleck, Kyrieckos A KA; Antaki, Danny D; Al Sharhan, Hind H; Au, Ping-Yee B PB; Aydin, Hatip H; Beggs, Alan H AH; Bilguvar, Kaya K; Boerwinkle, Eric E; Brand, Harrison H; Brownstein, Catherine A CA; Buyske, Steve S; Chodirker, Bernard B; Choi, Jungmin J; Chudley, Albert E AE; Clericuzio, Carol L CL; Cox, Gerald F GF; Curry, Cynthia C; de Boer, Elke E; de Vries, Bert B A BBA; Dunn, Kathryn K; Dutmer, Cullen M CM; England, Eleina M EM; Fahrner, Jill A JA; Geckinli, Bilgen B BB; Genetti, Casie A CA; Gezdirici, Alper A; Gibson, William T WT; Gleeson, Joseph G JG; Greenberg, Cheryl R CR; Hall, April A; Hamosh, Ada A; Hartley, Taila T; Jhangiani, Shalini N SN; Karaca, Ender E; Kernohan, Kristin K; Lauzon, Julie L JL; Lewis, M E Suzanne MES; Lowry, R Brian RB; López-Giráldez, Francesc F; Matise, Tara C TC; McEvoy-Venneri, Jennifer J; McInnes, Brenda B; Mhanni, Aziz A; Garcia Minaur, Sixto S; Moilanen, Jukka J; Nguyen, An A; Nowaczyk, Malgorzata J M MJM; Posey, Jennifer E JE; Õunap, Katrin K; Pehlivan, Davut D; Pajusalu, Sander S; Penney, Lynette S LS; Poterba, Timothy T; Prontera, Paolo P; Doriqui, Maria Juliana Rodovalho MJR; Sawyer, Sarah L SL; Sobreira, Nara N; Stanley, Valentina V; Torun, Deniz D; Wargowski, David D; Witmer, P Dane PD; Wong, Isaac I; Xing, Jinchuan J; Zaki, Maha S MS; Zhang, Yeting Y; , ; , ; Boycott, Kym M KM; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Blue, Elizabeth E EE; Innes, A Micheil AM

Publication Date: 2021-01

Variant appearance in text: CREBBP: 5737C>T

PubMed Link: 33098347

Variant Present in the following documents:

• Main text

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: CREBBP: 5737C>T

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: CREBBP: 5737C>T; Pro1913Ser

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1
• JCMM-24-4931-s008.xlsx, sheet 1

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