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: ISL1: 478+72T>C; rs2288468

PubMed Link: 36409824

Variant Present in the following documents:

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

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ISL1: 478+72T>C; rs2288468

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort.

Human Genome Variation

Arkani, Samara S; Cao, Jia J; Lundin, Johanna J; Nilsson, Daniel D; Källman, Thomas T; Barker, Gillian G; Holmdahl, Gundela G; Clementsson Kockum, Christina C; Matsson, Hans H; Nordenskjöld, Agneta A

Publication Date: 2018

Variant appearance in text: ISL1: 478+72T>C; rs2288468

PubMed Link: 29619236

Variant Present in the following documents:

• Main text
• hgv20189.pdf

View BVdb publication page

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Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Plos Genetics

Draaken, Markus M; Knapp, Michael M; Pennimpede, Tracie T; Schmidt, Johanna M JM; Ebert, Anne-Karolin AK; Rösch, Wolfgang W; Stein, Raimund R; Utsch, Boris B; Hirsch, Karin K; Boemers, Thomas M TM; Mangold, Elisabeth E; Heilmann, Stefanie S; Ludwig, Kerstin U KU; Jenetzky, Ekkehart E; Zwink, Nadine N; Moebus, Susanne S; Herrmann, Bernhard G BG; Mattheisen, Manuel M; Nöthen, Markus M MM; Ludwig, Michael M; Reutter, Heiko H

Publication Date: 2015-03

Variant appearance in text: rs2288468

PubMed Link: 25763902

Variant Present in the following documents:

• Main text
• pgen.1005024.pdf

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Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Plos One

Stevens, Kristen N KN; Hakonarson, Hakon H; Kim, Cecilia E CE; Doevendans, Pieter A PA; Koeleman, Bobby P C BP; Mital, Seema S; Raue, Jennifer J; Glessner, Joseph T JT; Coles, John G JG; Moreno, Victor V; Granger, Anne A; Gruber, Stephen B SB; Gruber, Peter J PJ

Publication Date: 2010-05-26

Variant appearance in text: rs2288468

PubMed Link: 20520780

Variant Present in the following documents:

• Main text
• pone.0010855.pdf

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Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.

American Journal Of Human Genetics

Suarez, Brian K BK; Duan, Jubao J; Sanders, Alan R AR; Hinrichs, Anthony L AL; Jin, Carol H CH; Hou, Cuiping C; Buccola, Nancy G NG; Hale, Nancy N; Weilbaecher, Ann N AN; Nertney, Deborah A DA; Olincy, Ann A; Green, Susan S; Schaffer, Arthur W AW; Smith, Christopher J CJ; Hannah, Dominique E DE; Rice, John P JP; Cox, Nancy J NJ; Martinez, Maria M; Mowry, Bryan J BJ; Amin, Farooq F; Silverman, Jeremy M JM; Black, Donald W DW; Byerley, William F WF; Crowe, Raymond R RR; Freedman, Robert R; Cloninger, C Robert CR; Levinson, Douglas F DF; Gejman, Pablo V PV

Publication Date: 2006-02

Variant appearance in text: rs2288468

PubMed Link: 16400611

Variant Present in the following documents:

• Main text

View BVdb publication page

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