Publications:

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In silico prioritisation of microRNA-associated common variants in multiple sclerosis.

Human Genomics

Fashina, Ifeolutembi A IA; McCoy, Claire E CE; Furney, Simon J SJ

Publication Date: 2023-03-30

Variant appearance in text: rs2308655

PubMed Link: 36991503

Variant Present in the following documents:

• Main text
• 40246_2023_Article_478.pdf

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: HLA-B: 1046G>A; Cys349Tyr; rs2308655

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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: rs2308655

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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Genetic variation in cervical preinvasive and invasive disease: a genome-wide association study.

The Lancet. Oncology

Bowden, Sarah J SJ; Bodinier, Barbara B; Kalliala, Ilkka I; Zuber, Verena V; Vuckovic, Dragana D; Doulgeraki, Triada T; Whitaker, Matthew D MD; Wielscher, Matthias M; Cartwright, Rufus R; Tsilidis, Konstantinos K KK; Bennett, Phillip P; Jarvelin, Marjo-Riitta MR; Flanagan, James M JM; Chadeau-Hyam, Marc M; Kyrgiou, Maria M; ,

Publication Date: 2021-04

Variant appearance in text: rs2308655

PubMed Link: 33794208

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Single-nucleotide polymorphisms of HLA and Polygonum multiflorum-induced liver injury in the Han Chinese population.

World Journal Of Gastroenterology

Yang, Wan-Na WN; Pang, Li-Li LL; Zhou, Ji-Yuan JY; Qiu, Yuan-Wang YW; Miao, Liang L; Wang, Shou-Yun SY; Liu, Xiang-Zhong XZ; Tan, Kang-An KA; Shi, Wan-Wan WW; Wang, Gui-Qiang GQ; Hou, Feng-Qin FQ

Publication Date: 2020-03-28

Variant appearance in text: rs2308655

PubMed Link: 32256020

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: rs2308655

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs2308655

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-B: C349Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs2308655

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs2308655

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2

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: rs2308655

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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customProDB: an R package to generate customized protein databases from RNA-Seq data for proteomics search.

Bioinformatics (Oxford, England)

Wang, Xiaojing X; Zhang, Bing B

Publication Date: 2013-12-15

Variant appearance in text: rs2308655

PubMed Link: 24058055

Variant Present in the following documents:

• supp_btt543_supplementary_file2_variant_peptides.xlsx, sheet 6
• supp_btt543_supplementary_file2_variant_peptides.xlsx, sheet 4
• supp_btt543_supplementary_file2_variant_peptides.xlsx, sheet 3
• supp_btt543_supplementary_file2_variant_peptides.xlsx, sheet 5

View BVdb publication page

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