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: rs758739

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs758739

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

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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: rs758739

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of candidate biomarkers and pathways associated with psoriasis using bioinformatics analysis.

Hereditas

Luo, Yongqi Y; Luo, Yangyang Y; Chang, Jing J; Xiao, Zhenghui Z; Zhou, Bin B

Publication Date: 2020-07-15

Variant appearance in text: rs758739

PubMed Link: 32669126

Variant Present in the following documents:

• Main text
• 41065_2020_Article_141.pdf

View BVdb publication page

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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: NCAPD2: 1186-162G>C; rs758739

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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Genotype combination contributes to psoriasis: An exhaustive algorithm perspective.

Plos One

Dou, Jinfa J; Guo, Huimin H; Cheng, Fang F; Huang, Hequn H; Fu, Liying L; Li, Longnian L; Yang, Chao C; Ye, Lei L; Wen, Leilei L; Cheng, Yuyan Y; Tang, Lili L; Zhu, Caihong C; Zhu, Zhengwei Z; Wang, Wenjun W; Sheng, Yujun Y; Wang, Zaixing Z; Liu, Shengxiu S; Fan, Xing X; Zuo, Xianbo X; Zhou, Fusheng F; Sun, Liangdan L; Zheng, Xiaodong X; Zhang, Xuejun X

Publication Date: 2017

Variant appearance in text: rs758739

PubMed Link: 29020033

Variant Present in the following documents:

• Main text
• pone.0186067.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: rs758739

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

American Journal Of Human Genetics

Baurecht, Hansjörg H; Hotze, Melanie M; Brand, Stephan S; Büning, Carsten C; Cormican, Paul P; Corvin, Aiden A; Ellinghaus, David D; Ellinghaus, Eva E; Esparza-Gordillo, Jorge J; Fölster-Holst, Regina R; Franke, Andre A; Gieger, Christian C; Hubner, Norbert N; Illig, Thomas T; Irvine, Alan D AD; Kabesch, Michael M; Lee, Young A E YA; Lieb, Wolfgang W; Marenholz, Ingo I; McLean, W H Irwin WH; Morris, Derek W DW; Mrowietz, Ulrich U; Nair, Rajan R; Nöthen, Markus M MM; Novak, Natalija N; O'Regan, Grainne M GM; , ; Schreiber, Stefan S; Smith, Catherine C; Strauch, Konstantin K; Stuart, Philip E PE; Trembath, Richard R; Tsoi, Lam C LC; Weichenthal, Michael M; Barker, Jonathan J; Elder, James T JT; Weidinger, Stephan S; Cordell, Heather J HJ; Brown, Sara J SJ

Publication Date: 2015-01-08

Variant appearance in text: rs758739

PubMed Link: 25574825

Variant Present in the following documents:

• mmc1.pdf

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Systematic genetic analysis identifies Cis-eQTL target genes associated with glioblastoma patient survival.

Plos One

Chen, Qing-Rong QR; Hu, Ying Y; Yan, Chunhua C; Buetow, Kenneth K; Meerzaman, Daoud D

Publication Date: 2014

Variant appearance in text: rs758739

PubMed Link: 25133526

Variant Present in the following documents:

• Main text
• pone.0105393.pdf

View BVdb publication page

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