Publications:

---

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: OLIG2: S77S

PubMed Link: 36928921

Variant Present in the following documents:

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

View BVdb publication page

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: OLIG2: S77S; rs762178

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: OLIG2: S77S; rs762178

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.

Genes

Pepłońska, Beata B; Piestrzynska-Kajtoch, Agata A; Humińska-Lisowska, Kinga K; Adamczyk, Jakub Grzegorz JG; Siewierski, Marcin M; Gurgul, Artur A; Fornal, Agnieszka A; Michałowska-Sawczyn, Monika M; Żekanowski, Cezary C; Cięszczyk, Paweł P; Berdyński, Mariusz M

Publication Date: 2021-02-11

Variant appearance in text: rs762178

PubMed Link: 33670313

Variant Present in the following documents:

• Main text
• genes-12-00262.pdf

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: OLIG2: 231A>G; S77S; rs762178

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: OLIG2: S77S; rs762178

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs762178

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Ethnicity-Dependent Effects of Schizophrenia Risk Variants of the OLIG2 Gene on OLIG2 Transcription and White Matter Integrity.

Schizophrenia Bulletin

Komatsu, Hiroshi H; Takeuchi, Hikaru H; Kikuchi, Yoshie Y; Ono, Chiaki C; Yu, Zhiqian Z; Iizuka, Kunio K; Takano, Yuji Y; Kakuto, Yoshihisa Y; Funakoshi, Shunichi S; Ono, Takashi T; Ito, Junko J; Kunii, Yasuto Y; Hino, Mizuki M; Nagaoka, Atsuko A; Iwasaki, Yasushi Y; Yamamori, Hidenaga H; Yasuda, Yuka Y; Fujimoto, Michiko M; Azechi, Hirotsugu H; Kudo, Noriko N; Hashimoto, Ryota R; Yabe, Hirooki H; Yoshida, Mari M; Saito, Yuko Y; Kakita, Akiyoshi A; Fuse, Nobuo N; Kawashima, Ryuta R; Taki, Yasuyuki Y; Tomita, Hiroaki H

Publication Date: 2020-12-01

Variant appearance in text: rs762178

PubMed Link: 32285113

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: OLIG2: S77S; rs762178

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: OLIG2: 231A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs762178

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: OLIG2: S77S

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: OLIG2: S77S; rs762178

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: OLIG2: S77S; rs762178

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: OLIG2: S77S; rs762178

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One

Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y

Publication Date: 2014

Variant appearance in text: rs762178

PubMed Link: 24637876

Variant Present in the following documents:

• pone.0091598.s004.pdf

View BVdb publication page

---

The Genetics of Obsessive-Compulsive Disorder.

Current Psychiatry Reviews

Bloch, Michael H MH; Pittenger, Christopher C

Publication Date: 2010-05-01

Variant appearance in text: rs762178

PubMed Link: 23970845

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Separated at birth? The functional and molecular divergence of OLIG1 and OLIG2.

Nature Reviews. Neuroscience

Meijer, Dimphna H DH; Kane, Michael F MF; Mehta, Shwetal S; Liu, Hongye H; Harrington, Emily E; Taylor, Christopher M CM; Stiles, Charles D CD; Rowitch, David H DH

Publication Date: 2012-12

Variant appearance in text: rs762178

PubMed Link: 23165259

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Connection between genetic and clinical data in bipolar disorder.

Plos One

Mellerup, Erling E; Andreassen, Ole O; Bennike, Bente B; Dam, Henrik H; Djurovic, Srdjan S; Durovic, Srdjan S; Hansen, Thomas T; Melle, Ingrid I; Møller, Gert Lykke GL; Mors, Ole O; Koefoed, Pernille P

Publication Date: 2012

Variant appearance in text: rs762178

PubMed Link: 23028568

Variant Present in the following documents:

• Main text
• pone.0044623.pdf

View BVdb publication page

---

Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs762178

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 5
• pone.0018158.s001.xls, sheet 3

View BVdb publication page

---

Expression of oligodendrocyte-associated genes in dorsolateral prefrontal cortex of patients with schizophrenia.

Schizophrenia Research

Mitkus, Shruti N SN; Hyde, Thomas M TM; Vakkalanka, Radhakrishna R; Kolachana, Bhaskar B; Weinberger, Daniel R DR; Kleinman, Joel E JE; Lipska, Barbara K BK

Publication Date: 2008-01

Variant appearance in text: rs762178

PubMed Link: 17964117

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Georgieva, Lyudmila L; Moskvina, Valentina V; Peirce, Tim T; Norton, Nadine N; Bray, Nicholas J NJ; Jones, Lesley L; Holmans, Peter P; Macgregor, Stuart S; Zammit, Stanley S; Wilkinson, Jennifer J; Williams, Hywel H; Nikolov, Ivan I; Williams, Nigel N; Ivanov, Dobril D; Davis, Kenneth L KL; Haroutunian, Vahram V; Buxbaum, Joseph D JD; Craddock, Nick N; Kirov, George G; Owen, Michael J MJ; O'Donovan, Michael C MC

Publication Date: 2006-08-15

Variant appearance in text: rs762178

PubMed Link: 16891421

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.

American Journal Of Human Genetics

Tanaka, Toshihiro T; Ikari, Katsunori K; Furushima, Kozo K; Okada, Akihiro A; Tanaka, Hiroshi H; Furukawa, Ken-Ichi K; Yoshida, Kenichi K; Ikeda, Toshiyuki T; Ikegawa, Shiro S; Hunt, Steven C SC; Takeda, Jun J; Toh, Satoshi S; Harata, Seiko S; Nakajima, Toshiaki T; Inoue, Ituro I

Publication Date: 2003-10

Variant appearance in text: rs762178

PubMed Link: 12958705

Variant Present in the following documents:

• Main text

View BVdb publication page

---