Publications:

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Human Genome Polymorphisms and Computational Intelligence Approach Revealed a Complex Genomic Signature for COVID-19 Severity in Brazilian Patients.

Viruses

Pastor, André Filipe AF; Docena, Cássia C; Rezende, Antônio Mauro AM; Oliveira, Flávio Rosendo da Silva FRDS; Sena, Marília de Albuquerque MA; Morais, Clarice Neuenschwander Lins de CNL; Bresani-Salvi, Cristiane Campello CC; Vasconcelos, Luydson Richardson Silva LRS; Valença, Kennya Danielle Campelo KDC; Mariz, Carolline de Araújo CA; Brito, Carlos C; Fonseca, Cláudio Duarte CD; Braga, Cynthia C; Reis, Christian Robson de Souza CRS; Marques, Ernesto Torres de Azevedo ETA; Acioli-Santos, Bartolomeu B

Publication Date: 2023-02-28

Variant appearance in text: rs2508450

PubMed Link: 36992353

Variant Present in the following documents:

• Main text
• viruses-15-00645.pdf

View BVdb publication page

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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: rs2508450

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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: rs2508450

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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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: IL10RA: 368-127T>C; rs2508450

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, 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: rs2508450

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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: rs2508450

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Association of IL-10 and IL-10RA single nucleotide polymorphisms with the responsiveness to HBV vaccination in Chinese infants of HBsAg(+)/HBeAg(-) mothers: a nested case-control study.

Bmj Open

Wen, Simin S; Wu, Yanhua Y; Pan, Yuchen Y; Cao, Mengzhuo M; Zhao, Dan D; Wang, Chong C; Wang, Chuan C; Kong, Fei F; Li, Jie J; Niu, Junqi J; Jiang, Jing J

Publication Date: 2018-11-28

Variant appearance in text: rs2508450

PubMed Link: 30498038

Variant Present in the following documents:

• Main text
• bmjopen-2018-022334.draft_revisions.pdf
• bmjopen-2018-022334.pdf

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: IL10RA: 368-127T>C; rs2508450

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.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: rs2508450

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).

Investigative Ophthalmology & Visual Science

Sobrin, Lucia L; Green, Todd T; Sim, Xueling X; Jensen, Richard A RA; Tai, E Shyong ES; Tay, Wan Ting WT; Wang, Jie Jin JJ; Mitchell, Paul P; Sandholm, Niina N; Liu, Yiyuan Y; Hietala, Kustaa K; Iyengar, Sudha K SK; , ; Brooks, Matthew M; Buraczynska, Monika M; Van Zuydam, Natalie N; Smith, Albert V AV; Gudnason, Vilmundur V; Doney, Alex S F AS; Morris, Andrew D AD; Leese, Graham P GP; Palmer, Colin N A CN; , ; Swaroop, Anand A; Taylor, Herman A HA; Wilson, James G JG; Penman, Alan A; Chen, Ching J CJ; Groop, Per-Henrik PH; Saw, Seang-Mei SM; Aung, Tin T; Klein, Barbara E BE; Rotter, Jerome I JI; Siscovick, David S DS; Cotch, Mary Frances MF; Klein, Ronald R; Daly, Mark J MJ; Wong, Tien Y TY

Publication Date: 2011-09-29

Variant appearance in text: rs2508450

PubMed Link: 21873659

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetic factors and vaccine-induced immunity to HBV infection: haplotype analysis.

Plos One

Ryckman, Kelli K KK; Fielding, Katherine K; Hill, Adrian V AV; Mendy, Maimuna M; Rayco-Solon, Pura P; Sirugo, Giorgio G; van der Sande, Marianne A MA; Waight, Pauline P; Whittle, Hilton C HC; Hall, Andrew J AJ; Williams, Scott M SM; Hennig, Branwen J BJ

Publication Date: 2010-08-18

Variant appearance in text: rs2508450

PubMed Link: 20806065

Variant Present in the following documents:

• Main text
• pone.0012273.pdf

View BVdb publication page

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Host genetic factors and vaccine-induced immunity to hepatitis B virus infection.

Plos One

Hennig, Branwen J BJ; Fielding, Katherine K; Broxholme, John J; Diatta, Mathurin M; Mendy, Maimuna M; Moore, Catrin C; Pollard, Andrew J AJ; Rayco-Solon, Pura P; Sirugo, Giorgio G; van der Sande, Marianne A MA; Waight, Pauline P; Whittle, Hilton C HC; Zaman, Syed M SM; Hill, Adrian V AV; Hall, Andrew J AJ

Publication Date: 2008-03-26

Variant appearance in text: rs2508450

PubMed Link: 18365030

Variant Present in the following documents:

• Main text
• pone.0001898.pdf

View BVdb publication page

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