Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: GRN: D128D; rs25646

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: GRN: D128D

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: GRN: D128=; rs25646

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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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: GRN: 384T>C; D128D; rs25646

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs25646

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.

Scientific Reports

Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ

Publication Date: 2021-01-15

Variant appearance in text: GRN: D128D; rs25646

PubMed Link: 33452395

Variant Present in the following documents:

• 41598_2021_81000_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: GRN: 384T>C; Asp128=; rs25646

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: GRN: 384T>C

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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: GRN: 384T>C; rs25646

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: GRN: 384T>C; D128D; rs25646

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

Neurobiology Of Aging

Barber, Imelda S IS; Braae, Anne A; Clement, Naomi N; Patel, Tulsi T; Guetta-Baranes, Tamar T; Brookes, Keeley K; Medway, Christopher C; Chappell, Sally S; Guerreiro, Rita R; Bras, Jose J; Hernandez, Dena D; Singleton, Andrew A; Hardy, John J; Mann, David M DM; , ; Morgan, Kevin K

Publication Date: 2017-01

Variant appearance in text: rs25646

PubMed Link: 27776828

Variant Present in the following documents:

• Main text

View BVdb publication page

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Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia.

Neurobiology Of Aging

Aswathy, Peethambaran Mallika PM; Jairani, Pushparajan Sulajamani PS; Raghavan, Sheela Kumari SK; Verghese, Joe J; Gopala, Srinivas S; Srinivas, Priya P; Mathuranath, Pavagada Sivasankara PS

Publication Date: 2016-03

Variant appearance in text: rs25646

PubMed Link: 26724960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluating pathogenic dementia variants in posterior cortical atrophy.

Neurobiology Of Aging

Carrasquillo, Minerva M MM; Barber, Imelda I; Lincoln, Sarah J SJ; Murray, Melissa E ME; Camsari, Gamze Balci GB; Khan, Qurat Ul Ain QUA; Nguyen, Thuy T; Ma, Li L; Bisceglio, Gina D GD; Crook, Julia E JE; Younkin, Steven G SG; Dickson, Dennis W DW; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Morgan, Kevin K; Ertekin-Taner, Nilüfer N

Publication Date: 2016-01

Variant appearance in text: rs25646

PubMed Link: 26507310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: GRN: 384T>C; D128D; rs25646

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: GRN: D128D; rs25646

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

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: GRN: D128D; rs25646

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Neurobiology Of Aging

Ghani, Mahdi M; Lang, Anthony E AE; Zinman, Lorne L; Nacmias, Benedetta B; Sorbi, Sandro S; Bessi, Valentina V; Tedde, Andrea A; Tartaglia, Maria Carmela MC; Surace, Ezequiel I EI; Sato, Christine C; Moreno, Danielle D; Xi, Zhengrui Z; Hung, Rachel R; Nalls, Mike A MA; Singleton, Andrew A; St George-Hyslop, Peter P; Rogaeva, Ekaterina E

Publication Date: 2015-01

Variant appearance in text: rs25646

PubMed Link: 25174650

Variant Present in the following documents:

• Main text

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: GRN: D128D; rs25646

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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Novel progranulin mutation detected in 2 patients with FTLD.

Alzheimer Disease And Associated Disorders

Skoglund, Lena L; Matsui, Toshifumi T; Freeman, Stefanie H SH; Wallin, Anders A; Blom, Elin S ES; Frosch, Matthew P MP; Growdon, John H JH; Hyman, Bradley T BT; Lannfelt, Lars L; Ingelsson, Martin M; Glaser, Anna A

Publication Date: 2011

Variant appearance in text: PGRN: 384T>C; Asp128Asp; rs25646

PubMed Link: 20975516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Human Molecular Genetics

Rademakers, Rosa R; Eriksen, Jason L JL; Baker, Matt M; Robinson, Todd T; Ahmed, Zeshan Z; Lincoln, Sarah J SJ; Finch, Nicole N; Rutherford, Nicola J NJ; Crook, Richard J RJ; Josephs, Keith A KA; Boeve, Bradley F BF; Knopman, David S DS; Petersen, Ronald C RC; Parisi, Joseph E JE; Caselli, Richard J RJ; Wszolek, Zbigniew K ZK; Uitti, Ryan J RJ; Feldman, Howard H; Hutton, Michael L ML; Mackenzie, Ian R IR; Graff-Radford, Neill R NR; Dickson, Dennis W DW

Publication Date: 2008-12-01

Variant appearance in text: GRN: 384T>C; D128D; rs25646

PubMed Link: 18723524

Variant Present in the following documents:

• ddn257_1.pdf

View BVdb publication page

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