Publications:

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: rs231357

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

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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: rs231357

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs231357

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: rs231357

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells.

Nature Communications

Boutin, J J; Rosier, J J; Cappellen, D D; Prat, F F; Toutain, J J; Pennamen, P P; Bouron, J J; Rooryck, C C; Merlio, J P JP; Lamrissi-Garcia, I I; Cullot, G G; Amintas, S S; Guyonnet-Duperat, V V; Ged, C C; Blouin, J M JM; Richard, E E; Dabernat, S S; Moreau-Gaudry, F F; Bedel, A A

Publication Date: 2021-08-13

Variant appearance in text: rs231357

PubMed Link: 34389729

Variant Present in the following documents:

• Main text
• 41467_2021_Article_25190.pdf

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Differential methylation of the type 2 diabetes susceptibility locus KCNQ1 is associated with insulin sensitivity and is predicted by CpG site specific genetic variation.

Diabetes Research And Clinical Practice

Shah, Ushma J UJ; Xie, Weijia W; Flyvbjerg, Allan A; Nolan, John J JJ; Højlund, Kurt K; Walker, Mark M; Relton, Caroline L CL; Elliott, Hannah R HR; ,

Publication Date: 2019-02

Variant appearance in text: rs231357

PubMed Link: 30641161

Variant Present in the following documents:

• Main text

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs231357

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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Identification of novel variants associated with osteoporosis, type 2 diabetes and potentially pleiotropic loci using pleiotropic cFDR method.

Bone

Hu, Yuan Y; Tan, Li-Jun LJ; Chen, Xiang-Ding XD; Greenbaum, Jonathan J; Deng, Hong-Wen HW

Publication Date: 2018-12

Variant appearance in text: rs231357

PubMed Link: 30172742

Variant Present in the following documents:

• Main text

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: rs231357

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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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: rs231357

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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Evaluation of allelic expression of imprinted genes in adult human blood.

Plos One

Frost, Jennifer M JM; Monk, Dave D; Stojilkovic-Mikic, Taita T; Woodfine, Kathryn K; Chitty, Lyn S LS; Murrell, Adele A; Stanier, Philip P; Moore, Gudrun E GE

Publication Date: 2010-10-21

Variant appearance in text: rs231357

PubMed Link: 21042416

Variant Present in the following documents:

• Main text

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The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells.

Epigenetics

Frost, Jennifer J; Monk, Dave D; Moschidou, Dafni D; Guillot, Pascale V PV; Stanier, Philip P; Minger, Stephen L SL; Fisk, Nicholas M NM; Moore, Harry D HD; Moore, Gudrun E GE

Publication Date: 2011-01

Variant appearance in text: rs231357

PubMed Link: 20864803

Variant Present in the following documents:

• Main text

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Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells.

Plos One

Frost, Jennifer M JM; Udayashankar, Ramya R; Moore, Harry D HD; Moore, Gudrun E GE

Publication Date: 2010-07-14

Variant appearance in text: rs231357

PubMed Link: 20644730

Variant Present in the following documents:

• Main text
• pone.0011595.pdf

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Human imprinted chromosomal regions are historical hot-spots of recombination.

Plos Genetics

Sandovici, Ionel I; Kassovska-Bratinova, Sacha S; Vaughan, Joe E JE; Stewart, Rae R; Leppert, Mark M; Sapienza, Carmen C

Publication Date: 2006-07

Variant appearance in text: rs231357

PubMed Link: 16839189

Variant Present in the following documents:

• Main text
• pgen.0020101.pdf

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