Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: STAB1: G632G; rs1010553

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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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: STAB1: G632G; rs1010553

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: STAB1: G632G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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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: STAB1: G632G

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: STAB1: 1896T>C; G632G; rs1010553

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: STAB1: G632G; rs1010553

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: STAB1: 1896T>C; G632G; rs1010553

PubMed Link: 33420045

Variant Present in the following documents:

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

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: STAB1: 1896T>C; Gly632Gly

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: STAB1: G632G; rs1010553

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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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: STAB1: G632G; rs1010553

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

Nature Communications

Teumer, Alexander A; Li, Yong Y; Ghasemi, Sahar S; Prins, Bram P BP; Wuttke, Matthias M; Hermle, Tobias T; Giri, Ayush A; Sieber, Karsten B KB; Qiu, Chengxiang C; Kirsten, Holger H; Tin, Adrienne A; Chu, Audrey Y AY; Bansal, Nisha N; Feitosa, Mary F MF; Wang, Lihua L; Chai, Jin-Fang JF; Cocca, Massimiliano M; Fuchsberger, Christian C; Gorski, Mathias M; Hoppmann, Anselm A; Horn, Katrin K; Li, Man M; Marten, Jonathan J; Noce, Damia D; Nutile, Teresa T; Sedaghat, Sanaz S; Sveinbjornsson, Gardar G; Tayo, Bamidele O BO; van der Most, Peter J PJ; Xu, Yizhe Y; Yu, Zhi Z; Gerstner, Lea L; Ärnlöv, Johan J; Bakker, Stephan J L SJL; Baptista, Daniela D; Biggs, Mary L ML; Boerwinkle, Eric E; Brenner, Hermann H; Burkhardt, Ralph R; Carroll, Robert J RJ; Chee, Miao-Li ML; Chee, Miao-Ling ML; Chen, Mengmeng M; Cheng, Ching-Yu CY; Cook, James P JP; Coresh, Josef J; Corre, Tanguy T; Danesh, John J; de Borst, Martin H MH; De Grandi, Alessandro A; de Mutsert, Renée R; de Vries, Aiko P J APJ; Degenhardt, Frauke F; Dittrich, Katalin K; Divers, Jasmin J; Eckardt, Kai-Uwe KU; Ehret, Georg G; Endlich, Karlhans K; Felix, Janine F JF; Franco, Oscar H OH; Franke, Andre A; Freedman, Barry I BI; Freitag-Wolf, Sandra S; Gansevoort, Ron T RT; Giedraitis, Vilmantas V; Gögele, Martin M; Grundner-Culemann, Franziska F; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; Hamet, Pavel P; Harris, Tamara B TB; Hicks, Andrew A AA; Holm, Hilma H; Foo, Valencia Hui Xian VHX; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Ingelsson, Erik E; Jaddoe, Vincent W V VWV; Jakobsdottir, Johanna J; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Khor, Chiea-Chuen CC; Kiess, Wieland W; Koenig, Wolfgang W; Körner, Antje A; Kovacs, Peter P; Kramer, Holly H; Krämer, Bernhard K BK; Kronenberg, Florian F; Lange, Leslie A LA; Langefeld, Carl D CD; Lee, Jeannette Jen-Mai JJ; Lehtimäki, Terho T; Lieb, Wolfgang W; Lim, Su-Chi SC; Lind, Lars L; Lindgren, Cecilia M CM; Liu, Jianjun J; Loeffler, Markus M; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Maranville, Joseph C JC; Mascalzoni, Deborah D; McMullen, Barbara B; Meisinger, Christa C; Meitinger, Thomas T; Miliku, Kozeta K; Mook-Kanamori, Dennis O DO; Müller-Nurasyid, Martina M; Mychaleckyj, Josyf C JC; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Noordam, Raymond R; Connell, Jeffrey O' JO; Olafsson, Isleifur I; Palmer, Nicholette D ND; Peters, Annette A; Podgornaia, Anna I AI; Ponte, Belen B; Poulain, Tanja T; Pramstaller, Peter P PP; Rabelink, Ton J TJ; Raffield, Laura M LM; Reilly, Dermot F DF; Rettig, Rainer R; Rheinberger, Myriam M; Rice, Kenneth M KM; Rivadeneira, Fernando F; Runz, Heiko H; Ryan, Kathleen A KA; Sabanayagam, Charumathi C; Saum, Kai-Uwe KU; Schöttker, Ben B; Shaffer, Christian M CM; Shi, Yuan Y; Smith, Albert V AV; Strauch, Konstantin K; Stumvoll, Michael M; Sun, Benjamin B BB; Szymczak, Silke S; Tai, E-Shyong ES; Tan, Nicholas Y Q NYQ; Taylor, Kent D KD; Teren, Andrej A; Tham, Yih-Chung YC; Thiery, Joachim J; Thio, Chris H L CHL; Thomsen, Hauke H; Thorsteinsdottir, Unnur U; Tönjes, Anke A; Tremblay, Johanne J; Uitterlinden, André G AG; van der Harst, Pim P; Verweij, Niek N; Vogelezang, Suzanne S; Völker, Uwe U; Waldenberger, Melanie M; Wang, Chaolong C; Wilson, Otis D OD; Wong, Charlene C; Wong, Tien-Yin TY; Yang, Qiong Q; Yasuda, Masayuki M; Akilesh, Shreeram S; Bochud, Murielle M; Böger, Carsten A CA; Devuyst, Olivier O; Edwards, Todd L TL; Ho, Kevin K; Morris, Andrew P AP; Parsa, Afshin A; Pendergrass, Sarah A SA; Psaty, Bruce M BM; Rotter, Jerome I JI; Stefansson, Kari K; Wilson, James G JG; Susztak, Katalin K; Snieder, Harold H; Heid, Iris M IM; Scholz, Markus M; Butterworth, Adam S AS; Hung, Adriana M AM; Pattaro, Cristian C; Köttgen, Anna A

Publication Date: 2019-09-11

Variant appearance in text: rs1010553

PubMed Link: 31511532

Variant Present in the following documents:

• Main text
• 41467_2019_11576_MOESM2_ESM.pdf
• 41467_2019_Article_11576.pdf

View BVdb publication page

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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: STAB1: 1896T>C

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: STAB1: 1896T>C; rs1010553

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1010553

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: STAB1: G632G; rs1010553

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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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: STAB1: G632G

PubMed Link: 27175599

Variant Present in the following documents:

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

View BVdb publication page

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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: STAB1: G632G; rs1010553

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

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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: STAB1: G632G; rs1010553

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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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: STAB1: G632G; rs1010553

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: STAB1: G632G; rs1010553

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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