Publications:

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Shared graft-vs-leukemia minor histocompatibility antigens in DISCOVeRY-BMT.

Blood Advances

Olsen, Kelly Shea KS; Jadi, Othmane O; Dexheimer, Sarah S; Bortone, Dante S DS; Vensko, Steven P SP; Bennett, Sarah Nicole SN; Tang, Hancong H; Diiorio, Marisa M; Saran, Tanvi T; Dingfelder, David D; Zhu, Qianqian Q; Wang, Yiwen Y; Haiman, Christopher A CA; Pooler, Loreall L; Sheng, Xin X; Webb, Amy A; Pasquini, Marcelo C MC; McCarthy, Philip L PL; Spellman, Stephen R SR; Weimer, Eric T ET; Hahn, Theresa T; Sucheston-Campbell, Lara E LE; Armistead, Paul M PM; Vincent, Benjamin B

Publication Date: 2022-12-07

Variant appearance in text: rs5758511

PubMed Link: 36477467

Variant Present in the following documents:

• BLOODA_ADV-2022-008863-mmc1.pdf

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: rs5758511

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Minor histocompatibility antigens HA-8 and PANE1 in the TUNISIAN population.

Molecular Genetics & Genomic Medicine

Said, Rahma R; Sellami, Mohamed Hichem MH; Kaabi, Houda H; Hmida, Slama S

Publication Date: 2022-11

Variant appearance in text: rs5758511

PubMed Link: 36036171

Variant Present in the following documents:

• Main text
• MGG3-10-e2050.pdf

View BVdb publication page

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Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.

National Science Review

Deng, Lian L; Zhang, Chao C; Yuan, Kai K; Gao, Yang Y; Pan, Yuwen Y; Ge, Xueling X; He, Yaoxi Y; Yuan, Yuan Y; Lu, Yan Y; Zhang, Xiaoxi X; Chen, Hao H; Lou, Haiyi H; Wang, Xiaoji X; Lu, Dongsheng D; Liu, Jiaojiao J; Tian, Lei L; Feng, Qidi Q; Khan, Asifullah A; Yang, Yajun Y; Jin, Zi-Bing ZB; Yang, Jian J; Lu, Fan F; Qu, Jia J; Kang, Longli L; Su, Bing B; Xu, Shuhua S

Publication Date: 2019-11

Variant appearance in text: rs5758511

PubMed Link: 34691999

Variant Present in the following documents:

• Main text
• nwz108.pdf

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: rs5758511

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs5758511

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19

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: rs5758511

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs5758511

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs5758511

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs5758511

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: rs5758511

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: rs5758511

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Admixture mapping and fine-mapping of birth weight loci in the Black Women's Health Study.

Human Genetics

Ochs-Balcom, Heather M HM; Shaw, Holly H; Preus, Leah L; Palmer, Julie R JR; Haddad, Stephen A SA; Rosenberg, Lynn L; Ruiz-Narváez, Edward A EA

Publication Date: 2018-07

Variant appearance in text: rs5758511

PubMed Link: 30006737

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: rs5758511

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Single step multiple genotyping by MALDI-TOF mass spectrometry, for evaluation of minor histocompatibility antigens in patients submitted to allogeneic stem cell transplantation from HLA-matched related and unrelated donor.

Hematology Reports

Cattina, Federica F; Bernardi, Simona S; Mantovani, Vilma V; Toffoletti, Eleonora E; Santoro, Alessandra A; Pastore, Domenico D; Martino, Bruno B; Console, Giuseppe G; Martinelli, Giovanni G; Malagola, Michele M

Publication Date: 2017-09-26

Variant appearance in text: rs5758511

PubMed Link: 29071050

Variant Present in the following documents:

• Main text
• hr-9-3-7051.pdf

View BVdb publication page

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Birth weight and risk of ischemic heart disease: A Mendelian randomization study.

Scientific Reports

Au Yeung, Shiu Lun SL; Lin, Shi Lin SL; Li, Albert Martin AM; Schooling, C Mary CM

Publication Date: 2016-12-07

Variant appearance in text: rs5758511

PubMed Link: 27924921

Variant Present in the following documents:

• Main text
• srep38420.pdf

View BVdb publication page

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The Value of Online Algorithms to Predict T-Cell Ligands Created by Genetic Variants.

Plos One

van der Lee, Dyantha I DI; Pont, Margot J MJ; Falkenburg, J H Frederik JH; Griffioen, Marieke M

Publication Date: 2016

Variant appearance in text: rs5758511

PubMed Link: 27618304

Variant Present in the following documents:

• Main text
• pone.0162808.pdf

View BVdb publication page

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Autosomal Minor Histocompatibility Antigens: How Genetic Variants Create Diversity in Immune Targets.

Frontiers In Immunology

Griffioen, Marieke M; van Bergen, Cornelis A M CA; Falkenburg, J H Frederik JH

Publication Date: 2016

Variant appearance in text: rs5758511

PubMed Link: 27014279

Variant Present in the following documents:

• Main text
• fimmu-07-00100.pdf

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: rs5758511

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

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Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Bmc Genomics

Thareja, Gaurav G; John, Sumi Elsa SE; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O

Publication Date: 2015-02-18

Variant appearance in text: rs5758511

PubMed Link: 25765185

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1233.pdf

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: rs5758511

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Phenome-wide association studies (PheWASs) for functional variants.

European Journal Of Human Genetics : Ejhg

Ye, Zhan Z; Mayer, John J; Ivacic, Lynn L; Zhou, Zhiyi Z; He, Min M; Schrodi, Steven J SJ; Page, David D; Brilliant, Murray H MH; Hebbring, Scott J SJ

Publication Date: 2015-04

Variant appearance in text: rs5758511

PubMed Link: 25074467

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: rs5758511

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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The PANE1 gene encodes a novel human minor histocompatibility antigen that is selectively expressed in B-lymphoid cells and B-CLL.

Blood

Brickner, Anthony G AG; Evans, Anne M AM; Mito, Jeffrey K JK; Xuereb, Suzanne M SM; Feng, Xin X; Nishida, Tetsuya T; Fairfull, Liane L; Ferrell, Robert E RE; Foon, Kenneth A KA; Hunt, Donald F DF; Shabanowitz, Jeffrey J; Engelhard, Victor H VH; Riddell, Stanley R SR; Warren, Edus H EH

Publication Date: 2006-05-01

Variant appearance in text: rs5758511

PubMed Link: 16391015

Variant Present in the following documents:

• Main text

View BVdb publication page

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