Publications:

---

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: N/A

PubMed Link: 36241656

Variant Present in the following documents:

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: N/A

PubMed Link: 36075891

Variant Present in the following documents:

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: N/A

PubMed Link: 34054912

Variant Present in the following documents:

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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

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

---

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: rs2241220

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_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

---

Getting to precision psychopharmacology: Combining clinical and genetic information to predict fat gain from aripiprazole.

Journal Of Psychiatric Research

Oughli, H H; Lenze, E J EJ; Locke, A E AE; Yingling, M D MD; Zhong, Y Y; Miller, J P JP; Reynolds, C F CF; Mulsant, B H BH; Newcomer, J W JW; Peterson, T R TR; Müller, D J DJ; Nicol, G E GE

Publication Date: 2019-07

Variant appearance in text: rs2241220

PubMed Link: 31039482

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Discovering heritable modes of MEG spectral power.

Human Brain Mapping

Leppäaho, Eemeli E; Renvall, Hanna H; Salmela, Elina E; Kere, Juha J; Salmelin, Riitta R; Kaski, Samuel S

Publication Date: 2019-04-01

Variant appearance in text: rs2241220

PubMed Link: 30600573

Variant Present in the following documents:

• Main text
• HBM-40-1391.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: rs2241220

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

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

---

Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One

Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 28953935

Variant Present in the following documents:

View BVdb publication page

---

Laboratory Medicine in the Clinical Decision Support for Treatment of Hypercholesterolemia: Pharmacogenetics of Statins.

Clinics In Laboratory Medicine

Ruaño, Gualberto G; Seip, Richard R; Windemuth, Andreas A; Wu, Alan H B AH; Thompson, Paul D PD

Publication Date: 2016-09

Variant appearance in text: rs2241220

PubMed Link: 27514463

Variant Present in the following documents:

• Main text

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

---

TOX and CDKN2A/B Gene Polymorphisms Are Associated with Type 2 Diabetes in Han Chinese.

Scientific Reports

Wei, Fengjiang F; Cai, Chunyou C; Feng, Shuzhi S; Lv, Jia J; Li, Shen S; Chang, Baocheng B; Zhang, Hong H; Shi, Wentao W; Han, Hongling H; Ling, Chao C; Yu, Ping P; Chen, Yongjun Y; Sun, Ning N; Tian, Jianli J; Jiao, Hongxiao H; Yang, Fuhua F; Li, Mingshan M; Wang, Yuhua Y; Zou, Lei L; Su, Long L; Li, Jingbo J; Li, Ran R; Qiu, Huina H; Shi, Jingmin J; Liu, Shiying S; Chang, Mingqin M; Lin, Jingna J; Chen, Liming L; Li, Wei-Dong WD

Publication Date: 2015-07-03

Variant appearance in text: rs2241220

PubMed Link: 26139146

Variant Present in the following documents:

• Main text
• srep11900.pdf

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

---

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

---

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

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

---

The effect of ACACB cis-variants on gene expression and metabolic traits.

Plos One

Ma, Lijun L; Mondal, Ashis K AK; Murea, Mariana M; Sharma, Neeraj K NK; Tönjes, Anke A; Langberg, Kurt A KA; Das, Swapan K SK; Franks, Paul W PW; Kovacs, Peter P; Antinozzi, Peter A PA; Stumvoll, Michael M; Parks, John S JS; Elbein, Steven C SC; Freedman, Barry I BI

Publication Date: 2011

Variant appearance in text: rs2241220

PubMed Link: 21887335

Variant Present in the following documents:

• Main text
• pone.0023860.pdf

View BVdb publication page

---

Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry

Windemuth, Andreas A; de Leon, Jose J; Goethe, John W JW; Schwartz, Harold I HI; Woolley, Stephen S; Susce, Margaret M; Kocherla, Mohan M; Bogaard, Kali K; Holford, Theodore R TR; Seip, Richard L RL; Ruaño, Gualberto G

Publication Date: 2012-03-30

Variant appearance in text: rs2241220

PubMed Link: 21851846

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The acetyl-coenzyme A carboxylase beta (ACACB) gene is associated with nephropathy in Chinese patients with type 2 diabetes.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Tang, Sydney C W SC; Leung, Violet T M VT; Chan, Loretta Y Y LY; Wong, Sunny S H SS; Chu, Daniel W S DW; Leung, Joseph C K JC; Ho, Yiu Wing YW; Lai, Kar Neng KN; Ma, Lijun L; Elbein, Steven C SC; Bowden, Donald W DW; Hicks, Pamela J PJ; Comeau, Mary E ME; Langefeld, Carl D CD; Freedman, Barry I BI

Publication Date: 2010-12

Variant appearance in text: rs2241220

PubMed Link: 20519229

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels.

Schizophrenia Research

Diaz, Francisco J FJ; Meary, Alexander A; Arranz, Maria J MJ; Ruaño, Gualberto G; Windemuth, Andreas A; de Leon, Jose J

Publication Date: 2009-12

Variant appearance in text: rs2241220

PubMed Link: 19846279

Variant Present in the following documents:

• Main text

View BVdb publication page

---