Publications:

GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: PKD1: 2096C>T; Ser699Leu; rs774476595

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

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Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.

Ebiomedicine

Lam, Wai-Yee WY; Tang, Clara Sze-Man CS; So, Man-Ting MT; Yue, Haibing H; Hsu, Jacob Shujui JS; Chung, Patrick Ho-Yu PH; Nicholls, John M JM; Yeung, Fanny F; Lee, Chun-Wai Davy CD; Ngo, Diem Ngoc DN; Nguyen, Pham Anh Hoa PAH; Mitchison, Hannah M HM; Jenkins, Dagan D; O'Callaghan, Christopher C; Garcia-Barceló, Maria-Mercè MM; Lee, So-Lun SL; Sham, Pak-Chung PC; Lui, Vincent Chi-Hang VC; Tam, Paul Kwong-Hang PK

Publication Date: 2021-09

Variant appearance in text: PKD1: S699L

PubMed Link: 34455394

Variant Present in the following documents:

• Main text

View BVdb publication page