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: rs1551305

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs1551305

PubMed Link: 36075891

Variant Present in the following documents:

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

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Germline Genetic Variants of Viral Entry and Innate Immunity May Influence Susceptibility to SARS-CoV-2 Infection: Toward a Polygenic Risk Score for Risk Stratification.

Frontiers In Immunology

Grolmusz, Vince Kornél VK; Bozsik, Anikó A; Papp, János J; Patócs, Attila A

Publication Date: 2021

Variant appearance in text: rs1551305

PubMed Link: 33763088

Variant Present in the following documents:

• Main text
• fimmu-12-653489.pdf

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Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19.

Pharmacological Research

Di Maria, Emilio E; Martini, Paolo P; Gennarelli, Massimo M

Publication Date: 2021-02

Variant appearance in text: rs1551305

PubMed Link: 33359911

Variant Present in the following documents:

• Main text
• main.pdf

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High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes.

Genes

Dziewulska, Anna A; Dobosz, Aneta M AM; Dobrzyn, Agnieszka A

Publication Date: 2018-07-26

Variant appearance in text: rs1551305

PubMed Link: 30050001

Variant Present in the following documents:

• Main text
• genes-09-00374.pdf

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Two-pore channels and disease.

Biochimica Et Biophysica Acta. Molecular Cell Research

Patel, Sandip S; Kilpatrick, Bethan S BS

Publication Date: 2018-11

Variant appearance in text: rs1551305

PubMed Link: 29746898

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants of TPCN2 Associated with Type 2 Diabetes Risk in the Chinese Population.

Plos One

Fan, Yujuan Y; Li, Xuesong X; Zhang, Yu Y; Fan, Xiaofang X; Zhang, Ning N; Zheng, Hui H; Song, Yuping Y; Shen, Chunfang C; Shen, Jiayi J; Ren, Fengdong F; Yang, Jialin J

Publication Date: 2016

Variant appearance in text: rs1551305

PubMed Link: 26918892

Variant Present in the following documents:

• Main text
• pone.0149614.pdf

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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: rs1551305

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.

American Journal Of Human Genetics

Suarez, Brian K BK; Duan, Jubao J; Sanders, Alan R AR; Hinrichs, Anthony L AL; Jin, Carol H CH; Hou, Cuiping C; Buccola, Nancy G NG; Hale, Nancy N; Weilbaecher, Ann N AN; Nertney, Deborah A DA; Olincy, Ann A; Green, Susan S; Schaffer, Arthur W AW; Smith, Christopher J CJ; Hannah, Dominique E DE; Rice, John P JP; Cox, Nancy J NJ; Martinez, Maria M; Mowry, Bryan J BJ; Amin, Farooq F; Silverman, Jeremy M JM; Black, Donald W DW; Byerley, William F WF; Crowe, Raymond R RR; Freedman, Robert R; Cloninger, C Robert CR; Levinson, Douglas F DF; Gejman, Pablo V PV

Publication Date: 2006-02

Variant appearance in text: rs1551305

PubMed Link: 16400611

Variant Present in the following documents:

• Main text

View BVdb publication page

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