Publications:

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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: N/A

PubMed Link: 36467812

Variant Present in the following documents:

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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: N/A

PubMed Link: 36241656

Variant Present in the following documents:

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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: N/A

PubMed Link: 36075891

Variant Present in the following documents:

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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: N/A

PubMed Link: 35768426

Variant Present in the following documents:

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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: SBNO1: G1022G; rs6488868

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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: rs6488868

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs6488868

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: SBNO1: G1022G; rs6488868

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, 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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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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: rs6488868

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia.

Translational Psychiatry

Hackinger, Sophie S; Prins, Bram B; Mamakou, Vasiliki V; Zengini, Eleni E; Marouli, Eirini E; Brčić, Luka L; Serafetinidis, Ioannis I; Lamnissou, Klea K; Kontaxakis, Vassilis V; Dedoussis, George G; Gonidakis, Fragiskos F; Thanopoulou, Anastasia A; Tentolouris, Nikolaos N; Tsezou, Aspasia A; Zeggini, Eleftheria E

Publication Date: 2018-11-23

Variant appearance in text: rs6488868

PubMed Link: 30470734

Variant Present in the following documents:

• Main text
• 41398_2018_Article_304.pdf

View BVdb publication page

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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

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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: rs6488868

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: N/A

PubMed Link: 28535796

Variant Present in the following documents:

View BVdb publication page

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Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Genome Medicine

Grassmann, Felix F; Kiel, Christina C; Zimmermann, Martina E ME; Gorski, Mathias M; Grassmann, Veronika V; Stark, Klaus K; , ; Heid, Iris M IM; Weber, Bernhard H F BH

Publication Date: 2017-03-27

Variant appearance in text: N/A

PubMed Link: 28347358

Variant Present in the following documents:

View BVdb publication page

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High-throughput allele-specific expression across 250 environmental conditions.

Genome Research

Moyerbrailean, Gregory A GA; Richards, Allison L AL; Kurtz, Daniel D; Kalita, Cynthia A CA; Davis, Gordon O GO; Harvey, Chris T CT; Alazizi, Adnan A; Watza, Donovan D; Sorokin, Yoram Y; Hauff, Nancy N; Zhou, Xiang X; Wen, Xiaoquan X; Pique-Regi, Roger R; Luca, Francesca F

Publication Date: 2016-12

Variant appearance in text: rs6488868

PubMed Link: 27934696

Variant Present in the following documents:

• supp_gr.209759.116_Supplemental_Materials.pdf

View BVdb publication page

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A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.

Plos One

Volkov, Petr P; Olsson, Anders H AH; Gillberg, Linn L; Jørgensen, Sine W SW; Brøns, Charlotte C; Eriksson, Karl-Fredrik KF; Groop, Leif L; Jansson, Per-Anders PA; Nilsson, Emma E; Rönn, Tina T; Vaag, Allan A; Ling, Charlotte C

Publication Date: 2016

Variant appearance in text: rs6488868

PubMed Link: 27322064

Variant Present in the following documents:

• Main text
• pone.0157776.pdf

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: N/A

PubMed Link: 26549847

Variant Present in the following documents:

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: N/A

PubMed Link: 25944692

Variant Present in the following documents:

View BVdb publication page

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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

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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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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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

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 24490137

Variant Present in the following documents:

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: rs6488868

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

Nature Genetics

Morris, Andrew P AP; Voight, Benjamin F BF; Teslovich, Tanya M TM; Ferreira, Teresa T; Segrè, Ayellet V AV; Steinthorsdottir, Valgerdur V; Strawbridge, Rona J RJ; Khan, Hassan H; Grallert, Harald H; Mahajan, Anubha A; Prokopenko, Inga I; Kang, Hyun Min HM; Dina, Christian C; Esko, Tonu T; Fraser, Ross M RM; Kanoni, Stavroula S; Kumar, Ashish A; Lagou, Vasiliki V; Langenberg, Claudia C; Luan, Jian'an J; Lindgren, Cecilia M CM; Müller-Nurasyid, Martina M; Pechlivanis, Sonali S; Rayner, N William NW; Scott, Laura J LJ; Wiltshire, Steven S; Yengo, Loic L; Kinnunen, Leena L; Rossin, Elizabeth J EJ; Raychaudhuri, Soumya S; Johnson, Andrew D AD; Dimas, Antigone S AS; Loos, Ruth J F RJ; Vedantam, Sailaja S; Chen, Han H; Florez, Jose C JC; Fox, Caroline C; Liu, Ching-Ti CT; Rybin, Denis D; Couper, David J DJ; Kao, Wen Hong L WH; Li, Man M; Cornelis, Marilyn C MC; Kraft, Peter P; Sun, Qi Q; van Dam, Rob M RM; Stringham, Heather M HM; Chines, Peter S PS; Fischer, Krista K; Fontanillas, Pierre P; Holmen, Oddgeir L OL; Hunt, Sarah E SE; Jackson, Anne U AU; Kong, Augustine A; Lawrence, Robert R; Meyer, Julia J; Perry, John R B JR; Platou, Carl G P CG; Potter, Simon S; Rehnberg, Emil E; Robertson, Neil N; Sivapalaratnam, Suthesh S; Stančáková, Alena A; Stirrups, Kathleen K; Thorleifsson, Gudmar G; Tikkanen, Emmi E; Wood, Andrew R AR; Almgren, Peter P; Atalay, Mustafa M; Benediktsson, Rafn R; Bonnycastle, Lori L LL; Burtt, Noël N; Carey, Jason J; Charpentier, Guillaume G; Crenshaw, Andrew T AT; Doney, Alex S F AS; Dorkhan, Mozhgan M; Edkins, Sarah S; Emilsson, Valur V; Eury, Elodie E; Forsen, Tom T; Gertow, Karl K; Gigante, Bruna B; Grant, George B GB; Groves, Christopher J CJ; Guiducci, Candace C; Herder, Christian C; Hreidarsson, Astradur B AB; Hui, Jennie J; James, Alan A; Jonsson, Anna A; Rathmann, Wolfgang W; Klopp, Norman N; Kravic, Jasmina J; Krjutškov, Kaarel K; Langford, Cordelia C; Leander, Karin K; Lindholm, Eero E; Lobbens, Stéphane S; Männistö, Satu S; Mirza, Ghazala G; Mühleisen, Thomas W TW; Musk, Bill B; Parkin, Melissa M; Rallidis, Loukianos L; Saramies, Jouko J; Sennblad, Bengt B; Shah, Sonia S; Sigurðsson, Gunnar G; Silveira, Angela A; Steinbach, Gerald G; Thorand, Barbara B; Trakalo, Joseph J; Veglia, Fabrizio F; Wennauer, Roman R; Winckler, Wendy W; Zabaneh, Delilah D; Campbell, Harry H; van Duijn, Cornelia C; Uitterlinden, Andre G AG; Hofman, Albert A; Sijbrands, Eric E; Abecasis, Goncalo R GR; Owen, Katharine R KR; Zeggini, Eleftheria E; Trip, Mieke D MD; Forouhi, Nita G NG; Syvänen, Ann-Christine AC; Eriksson, Johan G JG; Peltonen, Leena L; Nöthen, Markus M MM; Balkau, Beverley B; Palmer, Colin N A CN; Lyssenko, Valeriya V; Tuomi, Tiinamaija T; Isomaa, Bo B; Hunter, David J DJ; Qi, Lu L; , ; , ; , ; , ; , ; Shuldiner, Alan R AR; Roden, Michael M; Barroso, Ines I; Wilsgaard, Tom T; Beilby, John J; Hovingh, Kees K; Price, Jackie F JF; Wilson, James F JF; Rauramaa, Rainer R; Lakka, Timo A TA; Lind, Lars L; Dedoussis, George G; Njølstad, Inger I; Pedersen, Nancy L NL; Khaw, Kay-Tee KT; Wareham, Nicholas J NJ; Keinanen-Kiukaanniemi, Sirkka M SM; Saaristo, Timo E TE; Korpi-Hyövälti, Eeva E; Saltevo, Juha J; Laakso, Markku M; Kuusisto, Johanna J; Metspalu, Andres A; Collins, Francis S FS; Mohlke, Karen L KL; Bergman, Richard N RN; Tuomilehto, Jaakko J; Boehm, Bernhard O BO; Gieger, Christian C; Hveem, Kristian K; Cauchi, Stephane S; Froguel, Philippe P; Baldassarre, Damiano D; Tremoli, Elena E; Humphries, Steve E SE; Saleheen, Danish D; Danesh, John J; Ingelsson, Erik E; Ripatti, Samuli S; Salomaa, Veikko V; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Moebus, Susanne S; Peters, Annette A; Illig, Thomas T; de Faire, Ulf U; Hamsten, Anders A; Morris, Andrew D AD; Donnelly, Peter J PJ; Frayling, Timothy M TM; Hattersley, Andrew T AT; Boerwinkle, Eric E; Melander, Olle O; Kathiresan, Sekar S; Nilsson, Peter M PM; Deloukas, Panos P; Thorsteinsdottir, Unnur U; Groop, Leif C LC; Stefansson, Kari K; Hu, Frank F; Pankow, James S JS; Dupuis, Josée J; Meigs, James B JB; Altshuler, David D; Boehnke, Michael M; McCarthy, Mark I MI; ,

Publication Date: 2012-09

Variant appearance in text: rs6488868

PubMed Link: 22885922

Variant Present in the following documents:

• NIHMS49214-supplement-2.pdf

View BVdb publication page

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