Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: STAB1: V1522L

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: STAB1: V1522L; rs150956780

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.

Journal Of Cancer

Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA

Publication Date: 2018

Variant appearance in text: STAB1: 4564G>C; V1522L

PubMed Link: 30588243

Variant Present in the following documents:

• jcav09p4596s2.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: STAB1: 4564G>C; V1522L; rs150956780

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1
• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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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: STAB1: V1522L; rs150956780

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: STAB1: 4564G>C; Val1522Leu

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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A reference panel of 64,976 haplotypes for genotype imputation.

Nature Genetics

McCarthy, Shane S; Das, Sayantan S; Kretzschmar, Warren W; Delaneau, Olivier O; Wood, Andrew R AR; Teumer, Alexander A; Kang, Hyun Min HM; Fuchsberger, Christian C; Danecek, Petr P; Sharp, Kevin K; Luo, Yang Y; Sidore, Carlo C; Kwong, Alan A; Timpson, Nicholas N; Koskinen, Seppo S; Vrieze, Scott S; Scott, Laura J LJ; Zhang, He H; Mahajan, Anubha A; Veldink, Jan J; Peters, Ulrike U; Pato, Carlos C; van Duijn, Cornelia M CM; Gillies, Christopher E CE; Gandin, Ilaria I; Mezzavilla, Massimo M; Gilly, Arthur A; Cocca, Massimiliano M; Traglia, Michela M; Angius, Andrea A; Barrett, Jeffrey C JC; Boomsma, Dorrett D; Branham, Kari K; Breen, Gerome G; Brummett, Chad M CM; Busonero, Fabio F; Campbell, Harry H; Chan, Andrew A; Chen, Sai S; Chew, Emily E; Collins, Francis S FS; Corbin, Laura J LJ; Smith, George Davey GD; Dedoussis, George G; Dorr, Marcus M; Farmaki, Aliki-Eleni AE; Ferrucci, Luigi L; Forer, Lukas L; Fraser, Ross M RM; Gabriel, Stacey S; Levy, Shawn S; Groop, Leif L; Harrison, Tabitha T; Hattersley, Andrew A; Holmen, Oddgeir L OL; Hveem, Kristian K; Kretzler, Matthias M; Lee, James C JC; McGue, Matt M; Meitinger, Thomas T; Melzer, David D; Min, Josine L JL; Mohlke, Karen L KL; Vincent, John B JB; Nauck, Matthias M; Nickerson, Deborah D; Palotie, Aarno A; Pato, Michele M; Pirastu, Nicola N; McInnis, Melvin M; Richards, J Brent JB; Sala, Cinzia C; Salomaa, Veikko V; Schlessinger, David D; Schoenherr, Sebastian S; Slagboom, P Eline PE; Small, Kerrin K; Spector, Timothy T; Stambolian, Dwight D; Tuke, Marcus M; Tuomilehto, Jaakko J; Van den Berg, Leonard H LH; Van Rheenen, Wouter W; Volker, Uwe U; Wijmenga, Cisca C; Toniolo, Daniela D; Zeggini, Eleftheria E; Gasparini, Paolo P; Sampson, Matthew G MG; Wilson, James F JF; Frayling, Timothy T; de Bakker, Paul I W PI; Swertz, Morris A MA; McCarroll, Steven S; Kooperberg, Charles C; Dekker, Annelot A; Altshuler, David D; Willer, Cristen C; Iacono, William W; Ripatti, Samuli S; Soranzo, Nicole N; Walter, Klaudia K; Swaroop, Anand A; Cucca, Francesco F; Anderson, Carl A CA; Myers, Richard M RM; Boehnke, Michael M; McCarthy, Mark I MI; Durbin, Richard R; ,

Publication Date: 2016-10

Variant appearance in text: rs150956780

PubMed Link: 27548312

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: STAB1: 4564G>C; V1522L; rs150956780

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: STAB1: 4564G>C; V1522L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.

Nature Communications

Kristjansson, Ragnar P RP; Oddsson, Asmundur A; Helgason, Hannes H; Sveinbjornsson, Gardar G; Arnadottir, Gudny A GA; Jensson, Brynjar O BO; Jonasdottir, Aslaug A; Jonasdottir, Adalbjorg A; Bragi Walters, G G; Sulem, Gerald G; Oskarsdottir, Arna A; Benonisdottir, Stefania S; Davidsson, Olafur B OB; Masson, Gisli G; Magnusson, Olafur Th OT; Holm, Hilma H; Sigurdardottir, Olof O; Jonsdottir, Ingileif I; Eyjolfsson, Gudmundur I GI; Olafsson, Isleifur I; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2016-02-03

Variant appearance in text: STAB1: Val1522Leu; rs150956780

PubMed Link: 26838040

Variant Present in the following documents:

• Main text
• ncomms10572.pdf
• ncomms10572-s1.pdf

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: STAB1: V1522L

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 32

View BVdb publication page

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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: STAB1: V1522L

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: STAB1: V1522L; rs150956780

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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