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: EDNRB: L277L

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: N/A

PubMed Link: 36467812

Variant Present in the following documents:

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: rs5351

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

View BVdb publication page

---

Pathophysiology and genetics of salt-sensitive hypertension.

Frontiers In Physiology

Maaliki, Dina D; Itani, Maha M MM; Itani, Hana A HA

Publication Date: 2022

Variant appearance in text: rs5351

PubMed Link: 36176775

Variant Present in the following documents:

• Main text
• fphys-13-1001434.pdf

View BVdb publication page

---

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: rs5351

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: EDNRB: L277L

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

---

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Annals Of Human Genetics

Zhang, Dejun D; Wu, Jie J; Yuan, Yongyi Y; Li, Xiaohong X; Gao, Xue X; Han, Mingyu M; Gao, Song S; Huang, Shasha S; Dai, Pu P

Publication Date: 2022-07

Variant appearance in text: N/A

PubMed Link: 35292975

Variant Present in the following documents:

View BVdb publication page

---

Candidate Gene Polymorphisms Influence the Susceptibility to Salt Sensitivity of Blood Pressure in a Han Chinese Population: Risk Factors as Mediators.

Frontiers In Genetics

Xie, Yunyi Y; Liu, Zheng Z; Liu, Kuo K; Qi, Han H; Peng, Wenjuan W; Cao, Han H; Liu, Xiaohui X; Li, Bingxiao B; Wen, Fuyuan F; Zhang, Fengxu F; Zhang, Ling L

Publication Date: 2021

Variant appearance in text: rs5351

PubMed Link: 34671380

Variant Present in the following documents:

• Main text
• fgene-12-675230.pdf

View BVdb publication page

---

The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Frontiers In Oncology

Klemke, Luisa L; Fehlau, Clara F CF; Winkler, Nadine N; Toboll, Felicia F; Singh, Shiv K SK; Moll, Ute M UM; Schulz-Heddergott, Ramona R

Publication Date: 2021

Variant appearance in text: EDNRB: 831A>G; Leu277=; rs5351

PubMed Link: 34178628

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

---

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: EDNRB: 831A>G; rs5351

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs5351

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: N/A

PubMed Link: 33420045

Variant Present in the following documents:

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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

---

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: N/A

PubMed Link: 32492030

Variant Present in the following documents:

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: rs5351

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: EDNRB: 831A>G; rs5351

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

---

A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.

Molecular Genetics & Genomic Medicine

Ma, Jing J; Lin, Ken K; Jiang, Hong-Chao HC; Yang, Yanli Y; Zhang, Yu Y; Yang, Guilian G; Sun, Hao H; Ming, Cheng C; Bi, Xianyun X; Zhang, Tiesong T; Ruan, Biao B

Publication Date: 2019-07

Variant appearance in text: rs5351

PubMed Link: 31190477

Variant Present in the following documents:

• Main text
• MGG3-7-e00798.pdf

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: rs5351

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: N/A

PubMed Link: 30497413

Variant Present in the following documents:

View BVdb publication page

---

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: rs5351

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: EDNRB: 831A>G; rs5351

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: N/A

PubMed Link: 29221171

Variant Present in the following documents:

View BVdb publication page

---

Paleogenetic study on the 17th century Korean mummy with atherosclerotic cardiovascular disease.

Plos One

Shin, Dong Hoon DH; Oh, Chang Seok CS; Hong, Jong Ha JH; Kim, Yusu Y; Lee, Soong Deok SD; Lee, Eunju E

Publication Date: 2017

Variant appearance in text: rs5351

PubMed Link: 28813480

Variant Present in the following documents:

• Main text
• pone.0183098.pdf

View BVdb publication page

---

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: N/A

PubMed Link: 28535796

Variant Present in the following documents:

View BVdb publication page

---

Genomics and pharmacogenomics of salt-sensitive hypertension Minireview.

Current Hypertension Reviews

Armando, Ines I; Villar, Van Anthony M VA; Jose, Pedro A PA

Publication Date: 2015

Variant appearance in text: rs5351

PubMed Link: 28392754

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

Experimental And Therapeutic Medicine

Shi, Yunfang Y; Li, Xiaozhou X; Ju, Duan D; Li, Yan Y; Zhang, Xiuling X; Zhang, Ying Y

Publication Date: 2016-04

Variant appearance in text: N/A

PubMed Link: 27073475

Variant Present in the following documents:

View BVdb publication page

---

Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.

Nature Communications

Zhang, Yong-Biao YB; Hu, Jintian J; Zhang, Jiao J; Zhou, Xu X; Li, Xin X; Gu, Chaohao C; Liu, Tun T; Xie, Yangchun Y; Liu, Jiqiang J; Gu, Mingliang M; Wang, Panpan P; Wu, Tingting T; Qian, Jin J; Wang, Yue Y; Dong, Xiaoqun X; Yu, Jun J; Zhang, Qingguo Q

Publication Date: 2016-02-08

Variant appearance in text: rs5351

PubMed Link: 26853712

Variant Present in the following documents:

• Main text
• ncomms10605.pdf

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: N/A

PubMed Link: 26549847

Variant Present in the following documents:

View BVdb publication page

---

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

European Journal Of Human Genetics : Ejhg

Widowati, Titis T; Melhem, Shamiram S; Patria, Suryono Y SY; de Graaf, Bianca M BM; Sinke, Richard J RJ; Viel, Martijn M; Dijkhuis, Jos J; Sadewa, Ahmad H AH; Purwohardjono, Rochadi R; Soenarto, Yati Y; Hofstra, Robert Mw RM; Sribudiani, Yunia Y

Publication Date: 2016-06

Variant appearance in text: EDNRB: 831A>G

PubMed Link: 26395553

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 25944692

Variant Present in the following documents:

View BVdb publication page

---

Polymorphisms in endothelin system genes, arsenic levels and obesity risk.

Plos One

Martínez-Barquero, Vanesa V; de Marco, Griselda G; Martínez-Hervas, Sergio S; Rentero, Pilar P; Galan-Chilet, Inmaculada I; Blesa, Sebastian S; Morchon, David D; Morcillo, Sonsoles S; Rojo, Gemma G; Ascaso, Juan Francisco JF; Real, José Tomás JT; Martín-Escudero, Juan Carlos JC; Chaves, Felipe Javier FJ

Publication Date: 2015

Variant appearance in text: rs5351

PubMed Link: 25799405

Variant Present in the following documents:

• Main text
• pone.0118471.pdf

View BVdb publication page

---

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: N/A

PubMed Link: 25496518

Variant Present in the following documents:

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 24219164

Variant Present in the following documents:

View BVdb publication page

---

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

Plos One

Cui, Long L; Wong, Emily Hoi-Man EH; Cheng, Guo G; Firmato de Almeida, Manoel M; So, Man-Ting MT; Sham, Pak-Chung PC; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Garcia-Barceló, Maria-Mercè MM

Publication Date: 2013

Variant appearance in text: EDNRB: L277L; rs5351

PubMed Link: 23840513

Variant Present in the following documents:

• Main text
• pone.0066631.pdf

View BVdb publication page

---

Genetics of salt-sensitive hypertension.

Current Hypertension Reports

Sanada, Hironobu H; Jones, John E JE; Jose, Pedro A PA

Publication Date: 2011-02

Variant appearance in text: rs5351

PubMed Link: 21058046

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

Plos Genetics

Serre, David D; Gurd, Scott S; Ge, Bing B; Sladek, Robert R; Sinnett, Donna D; Harmsen, Eef E; Bibikova, Marina M; Chudin, Eugene E; Barker, David L DL; Dickinson, Todd T; Fan, Jian-Bing JB; Hudson, Thomas J TJ

Publication Date: 2008-02-29

Variant appearance in text: rs5351

PubMed Link: 18454203

Variant Present in the following documents:

• Main text

View BVdb publication page

---

ETB receptor polymorphism is associated with airway obstruction.

Bmc Pulmonary Medicine

Taillé, Camille C; Guénégou, Armelle A; Almolki, Abdelhamid A; Piperaud, Marie M; Leynaert, Bénédicte B; Vuillaumier, Sandrine S; Neukirch, Françoise F; Boczkowski, Jorge J; Aubier, Michel M; Benessiano, Joëlle J; Crestani, Bruno B

Publication Date: 2007-04-30

Variant appearance in text: N/A

PubMed Link: 17470272

Variant Present in the following documents:

View BVdb publication page

---

Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.

Bmc Biotechnology

Liljedahl, Ulrika U; Fredriksson, Mona M; Dahlgren, Andreas A; Syvänen, Ann-Christine AC

Publication Date: 2004-10-22

Variant appearance in text: rs5351

PubMed Link: 15500681

Variant Present in the following documents:

• Main text
• 1472-6750-4-24.pdf

View BVdb publication page

---