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: rs705708

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: rs705708

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs705708

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Discovery and Mediation Analysis of Cross-Phenotype Associations Between Asthma and Body Mass Index in 12q13.2.

American Journal Of Epidemiology

Salinas, Yasmmyn D YD; Wang, Zuoheng Z; DeWan, Andrew T AT

Publication Date: 2021-01-04

Variant appearance in text: rs705708

PubMed Link: 32700739

Variant Present in the following documents:

• Main text

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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: ERBB3: 1860-128G>A; rs705708

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Islet Long Noncoding RNAs: A Playbook for Discovery and Characterization.

Diabetes

Singer, Ruth A RA; Sussel, Lori L

Publication Date: 2018-08

Variant appearance in text: rs705708

PubMed Link: 29937433

Variant Present in the following documents:

• Main text
• dbi180001.pdf

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: rs705708

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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ERBB3-rs2292239 as primary type 1 diabetes association locus among non-HLA genes in Chinese.

Meta Gene

Sun, Chengjun C; Wei, Haiyan H; Chen, Xiuli X; Zhao, Zhuhui Z; Du, Hongwei H; Song, Wenhui W; Yang, Yu Y; Zhang, Miaoying M; Lu, Wei W; Pei, Zhou Z; Xi, Li L; Yan, Jian J; Zhi, Dijing D; Cheng, Ruoqian R; Luo, Feihong F

Publication Date: 2016-09

Variant appearance in text: rs705708

PubMed Link: 27331016

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Association between ErbB3 genetic polymorphisms and coronary artery disease in the Han and Uyghur populations of China.

International Journal Of Clinical And Experimental Medicine

Maitusong, Buamina B; Xie, Xiang X; Ma, Yi-Tong YT; Fu, Zhen-Yan ZY; Yang, Yi-Ning YN; Li, Xiao-Mei XM; Liu, Fen F; Chen, Bang-Dang BD; Gai, Min-Tao MT

Publication Date: 2015

Variant appearance in text: rs705708

PubMed Link: 26629179

Variant Present in the following documents:

• Main text

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: rs705708

PubMed Link: 26549847

Variant Present in the following documents:

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

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Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One

Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F

Publication Date: 2014

Variant appearance in text: rs705708

PubMed Link: 25144376

Variant Present in the following documents:

• pone.0105723.s013.xlsx, sheet 3

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Evidence for two independent associations with type 1 diabetes at the 12q13 locus.

Genes And Immunity

Keene, K L KL; Quinlan, A R AR; Hou, X X; Hall, I M IM; Mychaleckyj, J C JC; Onengut-Gumuscu, S S; Concannon, P P

Publication Date: 2012-01

Variant appearance in text: rs705708

PubMed Link: 21850031

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomics and pharmacogenomics of schizophrenia.

Cns Neuroscience & Therapeutics

Cacabelos, Ramón R; Martínez-Bouza, Rocío R

Publication Date: 2011-10

Variant appearance in text: rs705708

PubMed Link: 20718829

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.

Genes And Immunity

Cooper, J D JD; Walker, N M NM; Healy, B C BC; Smyth, D J DJ; Downes, K K; Todd, J A JA; ,

Publication Date: 2009-12

Variant appearance in text: rs705708

PubMed Link: 19956108

Variant Present in the following documents:

• Main text

View BVdb publication page

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