Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 1334A>T

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Sequencing to Identify Missed Rifampicin and Isoniazid Resistance Among Tuberculosis Isolates-Chennai, India, 2013-2016.

Frontiers In Microbiology

Tamilzhalagan, Sembulingam S; Shanmugam, Sivakumar S; Selvaraj, Ashok A; Suba, Sakthi S; Suganthi, Chittibabu C; Moonan, Patrick K PK; Surie, Diya D; Sathyanarayanan, Mukesh Kumar MK; Gomathi, Narayanan Shivaram NS; Jayabal, Lavanya L; Sachdeva, Kuldeep Singh KS; Selvaraju, Sriram S; Swaminathan, Soumya S; Tripathy, Srikanth Prasad SP; Hall, Patricia J PJ; Ranganathan, Uma Devi UD

Publication Date: 2021

Variant appearance in text: GC: H445L

PubMed Link: 34880835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

Nutrients

Krasniqi, Ermira E; Boshnjaku, Arben A; Wagner, Karl-Heinz KH; Wessner, Barbara B

Publication Date: 2021-09-04

Variant appearance in text: rs9016

PubMed Link: 34578986

Variant Present in the following documents:

• Main text
• nutrients-13-03109.pdf

View BVdb publication page

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Genome-wide association study of vitamin D concentrations and bone mineral density in the African American-Diabetes Heart Study.

Plos One

Palmer, Nicholette D ND; Lu, Lingyi L; Register, Thomas C TC; Lenchik, Leon L; Carr, J Jeffrey JJ; Hicks, Pamela J PJ; Smith, S Carrie SC; Xu, Jianzhao J; Dimitrov, Latchezar L; Keaton, Jacob J; Guan, Meijian M; Ng, Maggie C Y MCY; Chen, Yii-der I YI; Hanley, Anthony J AJ; Engelman, Corinne D CD; Norris, Jill M JM; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Bowden, Donald W DW; Freedman, Barry I BI; Divers, Jasmin J

Publication Date: 2021

Variant appearance in text: rs9016

PubMed Link: 34014961

Variant Present in the following documents:

• Main text
• pone.0251423.pdf

View BVdb publication page

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Thin-Layer-Agar-Based Direct Phenotypic Drug Susceptibility Testing on Sputum in Eswatini Rapidly Detects Mycobacterium tuberculosis Growth and Rifampicin Resistance Otherwise Missed by WHO-Endorsed Diagnostic Tests.

Antimicrobial Agents And Chemotherapy

Ardizzoni, E E; Ariza, E E; Mulengwa, D D; Mpala, Q Q; de La Tour, R R; Maphalala, G G; Varaine, F F; Kerschberger, B B; Graulus, P P; Page, A L AL; Niemann, S S; Dreyer, V V; Van Deun, A A; Decroo, T T; Rigouts, L L; de Jong, B C BC

Publication Date: 2021-05-18

Variant appearance in text: GC: H445L

PubMed Link: 33722892

Variant Present in the following documents:

• Main text
• aac.02263-20.pdf

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: rs9016

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

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: rs9016

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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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: rs9016

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.

Brain And Behavior

Pytel, Vanesa V; Matías-Guiu, Jordi A JA; Torre-Fuentes, Laura L; Montero-Escribano, Paloma P; Maietta, Paolo P; Botet, Javier J; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J

Publication Date: 2019-04

Variant appearance in text: rs9016

PubMed Link: 30900415

Variant Present in the following documents:

• Main text
• BRB3-9-e01272.pdf

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: rs9016

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: rs9016

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: rs9016

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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Mycobacterium tuberculosis whole genome sequencing and protein structure modelling provides insights into anti-tuberculosis drug resistance.

Bmc Medicine

Phelan, Jody J; Coll, Francesc F; McNerney, Ruth R; Ascher, David B DB; Pires, Douglas E V DE; Furnham, Nick N; Coeck, Nele N; Hill-Cawthorne, Grant A GA; Nair, Mridul B MB; Mallard, Kim K; Ramsay, Andrew A; Campino, Susana S; Hibberd, Martin L ML; Pain, Arnab A; Rigouts, Leen L; Clark, Taane G TG

Publication Date: 2016-03-23

Variant appearance in text: GC: H445L

PubMed Link: 27005572

Variant Present in the following documents:

• Main text

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: rs9016

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs9016

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic associations with 25-hydroxyvitamin D deficiency in HIV-1-infected youth: fine-mapping for the GC/DBP gene that encodes the vitamin D-binding protein.

Frontiers In Genetics

Porter, Travis R TR; Li, Xuelin X; Stephensen, Charles B CB; Mulligan, Kathleen K; Rutledge, Brandy B; Flynn, Patricia M PM; Lujan-Zilbermann, Jorge J; Hazra, Rohan R; Wilson, Craig M CM; Havens, Peter L PL; Tang, Jianming J; ,

Publication Date: 2013

Variant appearance in text: rs9016

PubMed Link: 24294218

Variant Present in the following documents:

• Main text
• fgene-04-00234.pdf

View BVdb publication page

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