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: NSUN2: 529C>T; His177Tyr

PubMed Link: 33098347

Variant Present in the following documents:

• Main text

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: NSUN2: H177Y; rs149196615

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: NSUN2: H177Y; rs149196615

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: NSUN2: H177Y

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page