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: HLA-DOB: L234F

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology

Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2021

Variant appearance in text: rs2070121

PubMed Link: 34650566

Variant Present in the following documents:

• Table_3.xlsx, sheet 3
• Table_3.xlsx, sheet 4
• Table_3.xlsx, sheet 1
• Table_3.xlsx, sheet 5
• Table_3.xlsx, sheet 2

View BVdb publication page

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Human Hepatitis B Viral Infection Outcomes Are Linked to Naturally Occurring Variants of HLA-DOA That Have Altered Function.

Journal Of Immunology (Baltimore, Md. : 1950)

Graves, Austin M AM; Virdis, Francesca F; Morrison, Eliot E; Álvaro-Benito, Miguel M; Khan, Aly A AA; Freund, Christian C; Golovkina, Tatyana V TV; Denzin, Lisa K LK

Publication Date: 2020-08-15

Variant appearance in text: rs2070121

PubMed Link: 32690655

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between single nucleotide polymorphisms within HLA region and disease relapse for patients with hematopoietic stem cell transplantation.

Scientific Reports

Chen, Ding-Ping DP; Chang, Su-Wei SW; Wang, Po-Nan PN; Hus, Fang-Ping FP; Tseng, Ching-Ping CP

Publication Date: 2019-09-24

Variant appearance in text: rs2070121

PubMed Link: 31551439

Variant Present in the following documents:

• Main text
• 41598_2019_Article_50111.pdf

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs2070121

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.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: HLA-DOB: 700C>T; L234F; rs2070121

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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LPG: A four-group probabilistic approach to leveraging pleiotropy in genome-wide association studies.

Bmc Genomics

Yang, Yi Y; Dai, Mingwei M; Huang, Jian J; Lin, Xinyi X; Yang, Can C; Chen, Min M; Liu, Jin J

Publication Date: 2018-06-28

Variant appearance in text: rs2070121

PubMed Link: 29954342

Variant Present in the following documents:

• Main text
• 12864_2018_Article_4851.pdf
• 12864_2018_4851_MOESM1_ESM.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2070121

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HLA-DOB: L234F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: HLA-DOB: L234F; rs2070121

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: HLA-DOB: L234F

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, 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: HLA-DOB: L234F; rs2070121

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs2070121

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: HLA-DOB: L234F

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page

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Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest.

Nucleic Acids Research

Roshan, Usman U; Chikkagoudar, Satish S; Wei, Zhi Z; Wang, Kai K; Hakonarson, Hakon H

Publication Date: 2011-05

Variant appearance in text: rs2070121

PubMed Link: 21317188

Variant Present in the following documents:

• supp_gkr064_supplementarygkr064.pdf

View BVdb publication page

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