Publications:

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: FURIN: 667+128T>C; rs1573643

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs1573643

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1573643

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: FURIN: 667+128T>C; rs1573643

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.

Journal Of The American Academy Of Child And Adolescent Psychiatry

Neale, Benjamin M BM; Medland, Sarah E SE; Ripke, Stephan S; Asherson, Philip P; Franke, Barbara B; Lesch, Klaus-Peter KP; Faraone, Stephen V SV; Nguyen, Thuy Trang TT; Schäfer, Helmut H; Holmans, Peter P; Daly, Mark M; Steinhausen, Hans-Christoph HC; Freitag, Christine C; Reif, Andreas A; Renner, Tobias J TJ; Romanos, Marcel M; Romanos, Jasmin J; Walitza, Susanne S; Warnke, Andreas A; Meyer, Jobst J; Palmason, Haukur H; Buitelaar, Jan J; Vasquez, Alejandro Arias AA; Lambregts-Rommelse, Nanda N; Gill, Michael M; Anney, Richard J L RJ; Langely, Kate K; O'Donovan, Michael M; Williams, Nigel N; Owen, Michael M; Thapar, Anita A; Kent, Lindsey L; Sergeant, Joseph J; Roeyers, Herbert H; Mick, Eric E; Biederman, Joseph J; Doyle, Alysa A; Smalley, Susan S; Loo, Sandra S; Hakonarson, Hakon H; Elia, Josephine J; Todorov, Alexandre A; Miranda, Ana A; Mulas, Fernando F; Ebstein, Richard P RP; Rothenberger, Aribert A; Banaschewski, Tobias T; Oades, Robert D RD; Sonuga-Barke, Edmund E; McGough, James J; Nisenbaum, Laura L; Middleton, Frank F; Hu, Xiaolan X; Nelson, Stan S; ,

Publication Date: 2010-09

Variant appearance in text: rs1573643

PubMed Link: 20732625

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between genetic variations in the FURIN gene and hypertension.

Bmc Medical Genetics

Li, Nanfang N; Luo, Wenli W; Juhong, Zhang Z; Yang, Jin J; Wang, Hongmei H; Zhou, Ling L; Chang, Jianhang J

Publication Date: 2010-08-13

Variant appearance in text: rs1573643

PubMed Link: 20707915

Variant Present in the following documents:

• Main text
• 1471-2350-11-124.pdf

View BVdb publication page

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