Publications:

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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: GAB2: V430V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2

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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: GAB2: V430V; rs1385600

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: GAB2: V430V; rs1385600

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: GAB2: 1290T>C; V430V; rs1385600

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: GAB2: V430V; rs1385600

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: GAB2: V430V; rs1385600

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_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: GAB2: 1290T>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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Microglia in Alzheimer's Disease: Exploring How Genetics and Phenotype Influence Risk.

Journal Of Molecular Biology

McQuade, Amanda A; Blurton-Jones, Mathew M

Publication Date: 2019-04-19

Variant appearance in text: rs1385600

PubMed Link: 30738892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1385600

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The impact of GAB2 genetic variations on cerebrospinal fluid markers in Alzheimer's disease.

Annals Of Translational Medicine

Chen, Xiao-Xiao XX; Guo, Run-Rong RR; Cao, Xi-Peng XP; Tan, Lin L; Tan, Lan L; ,

Publication Date: 2018-05

Variant appearance in text: rs1385600

PubMed Link: 29951493

Variant Present in the following documents:

• Main text

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: rs1385600

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Saudi Journal Of Biological Sciences

Alkhiary, Yaser Mohammad YM; Jelani, Musharraf M; Almramhi, Mona Mohammad MM; Mohamoud, Hussein Sheikh Ali HS; Al-Rehaili, Rayan R; Al-Zahrani, Hams Saeed HS; Serafi, Rehab R; Yang, Huanming H; Al-Aama, Jumana Yousuf JY

Publication Date: 2016-09

Variant appearance in text: GAB2: V430V; rs1385600

PubMed Link: 27579005

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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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: GAB2: V430V; rs1385600

PubMed Link: 25944692

Variant Present in the following documents:

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

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: GAB2: V430V; rs1385600

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

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: GAB2: V430V; rs1385600

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's disease pathology.

Plos One

Zou, Fanggeng F; Belbin, Olivia O; Carrasquillo, Minerva M MM; Culley, Oliver J OJ; Hunter, Talisha A TA; Ma, Li L; Bisceglio, Gina D GD; Allen, Mariet M; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Petersen, Ronald C RC; , ; Morgan, Kevin K; Younkin, Steven G SG

Publication Date: 2013

Variant appearance in text: rs1385600

PubMed Link: 23724096

Variant Present in the following documents:

• Main text
• pone.0064802.pdf

View BVdb publication page

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Alzheimer's disease risk gene, GAB2, is associated with regional brain volume differences in 755 young healthy twins.

Twin Research And Human Genetics : The Official Journal Of The International Society For Twin Studies

Hibar, Derrek P DP; Jahanshad, Neda N; Stein, Jason L JL; Kohannim, Omid O; Toga, Arthur W AW; Medland, Sarah E SE; Hansell, Narelle K NK; McMahon, Katie L KL; de Zubicaray, Greig I GI; Montgomery, Grant W GW; Martin, Nicholas G NG; Wright, Margaret J MJ; Thompson, Paul M PM

Publication Date: 2012-06

Variant appearance in text: rs1385600

PubMed Link: 22856364

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between GAB2 haplotype and higher glucose metabolism in Alzheimer's disease-affected brain regions in cognitively normal APOEε4 carriers.

Neuroimage

Liang, Winnie S WS; Chen, Kewei K; Lee, Wendy W; Sidhar, Kunal K; Corneveaux, Jason J JJ; Allen, April N AN; Myers, Amanda A; Villa, Stephen S; Meechoovet, Bessie B; Pruzin, Jeremy J; Bandy, Daniel D; Fleisher, Adam S AS; Langbaum, Jessica B S JB; Huentelman, Matthew J MJ; Jensen, Kendall K; Dunckley, Travis T; Caselli, Richard J RJ; Kaib, Susan S; Reiman, Eric M EM

Publication Date: 2011-02-01

Variant appearance in text: rs1385600

PubMed Link: 20888920

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.

Neurobiology Of Aging

Guerreiro, Rita J RJ; Gustafson, Deborah R DR; Hardy, John J

Publication Date: 2012-03

Variant appearance in text: rs1385600

PubMed Link: 20594621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intermediate phenotypes identify divergent pathways to Alzheimer's disease.

Plos One

Shulman, Joshua M JM; Chibnik, Lori B LB; Aubin, Cristin C; Schneider, Julie A JA; Bennett, David A DA; De Jager, Philip L PL

Publication Date: 2010-06-21

Variant appearance in text: rs1385600

PubMed Link: 20574532

Variant Present in the following documents:

• Main text
• pone.0011244.pdf

View BVdb publication page

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Identifying genetic interactions in genome-wide data using Bayesian networks.

Genetic Epidemiology

Jiang, Xia X; Barmada, M Michael MM; Visweswaran, Shyam S

Publication Date: 2010-09

Variant appearance in text: rs1385600

PubMed Link: 20568290

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association studies in Alzheimer's disease.

Human Molecular Genetics

Bertram, Lars L; Tanzi, Rudolph E RE

Publication Date: 2009-10-15

Variant appearance in text: rs1385600

PubMed Link: 19808789

Variant Present in the following documents:

• Main text

View BVdb publication page

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GAB2 is not associated with late-onset Alzheimer's disease in Japanese.

European Journal Of Human Genetics : Ejhg

Miyashita, Akinori A; Arai, Hiroyuki H; Asada, Takashi T; Imagawa, Masaki M; Shoji, Mikio M; Higuchi, Susumu S; Urakami, Katsuya K; Toyabe, Shinichi S; Akazawa, Kohei K; Kanazawa, Ichiro I; Ihara, Yasuo Y; Kuwano, Ryozo R

Publication Date: 2009-05

Variant appearance in text: rs1385600

PubMed Link: 18854865

Variant Present in the following documents:

• Main text

View BVdb publication page

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GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.

Neuron

Reiman, Eric M EM; Webster, Jennifer A JA; Myers, Amanda J AJ; Hardy, John J; Dunckley, Travis T; Zismann, Victoria L VL; Joshipura, Keta D KD; Pearson, John V JV; Hu-Lince, Diane D; Huentelman, Matthew J MJ; Craig, David W DW; Coon, Keith D KD; Liang, Winnie S WS; Herbert, RiLee H RH; Beach, Thomas T; Rohrer, Kristen C KC; Zhao, Alice S AS; Leung, Doris D; Bryden, Leslie L; Marlowe, Lauren L; Kaleem, Mona M; Mastroeni, Diego D; Grover, Andrew A; Heward, Christopher B CB; Ravid, Rivka R; Rogers, Joseph J; Hutton, Michael L ML; Melquist, Stacey S; Petersen, Ron C RC; Alexander, Gene E GE; Caselli, Richard J RJ; Kukull, Walter W; Papassotiropoulos, Andreas A; Stephan, Dietrich A DA

Publication Date: 2007-06-07

Variant appearance in text: rs1385600

PubMed Link: 17553421

Variant Present in the following documents:

• Main text

View BVdb publication page

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