Publications:

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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: rs1042712

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs1042712

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs1042712

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature.

Scientific Reports

Saberian, Nafiseh N; Shafi, Adib A; Peyvandipour, Azam A; Draghici, Sorin S

Publication Date: 2020-07-23

Variant appearance in text: rs1042712

PubMed Link: 32703994

Variant Present in the following documents:

• 41598_2020_68649_MOESM2_ESM.xlsx, sheet 2

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: rs1042712

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs1042712

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.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: rs1042712

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-omics of the gut microbial ecosystem in inflammatory bowel diseases.

Nature

Lloyd-Price, Jason J; Arze, Cesar C; Ananthakrishnan, Ashwin N AN; Schirmer, Melanie M; Avila-Pacheco, Julian J; Poon, Tiffany W TW; Andrews, Elizabeth E; Ajami, Nadim J NJ; Bonham, Kevin S KS; Brislawn, Colin J CJ; Casero, David D; Courtney, Holly H; Gonzalez, Antonio A; Graeber, Thomas G TG; Hall, A Brantley AB; Lake, Kathleen K; Landers, Carol J CJ; Mallick, Himel H; Plichta, Damian R DR; Prasad, Mahadev M; Rahnavard, Gholamali G; Sauk, Jenny J; Shungin, Dmitry D; Vázquez-Baeza, Yoshiki Y; White, Richard A RA; , ; Braun, Jonathan J; Denson, Lee A LA; Jansson, Janet K JK; Knight, Rob R; Kugathasan, Subra S; McGovern, Dermot P B DPB; Petrosino, Joseph F JF; Stappenbeck, Thaddeus S TS; Winter, Harland S HS; Clish, Clary B CB; Franzosa, Eric A EA; Vlamakis, Hera H; Xavier, Ramnik J RJ; Huttenhower, Curtis C

Publication Date: 2019-05

Variant appearance in text: rs1042712

PubMed Link: 31142855

Variant Present in the following documents:

• Main text
• 41586_2019_1237_MOESM1_ESM.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: rs1042712

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1
• Table_5.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: rs1042712

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

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: rs1042712

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.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: rs1042712

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1042712

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs1042712

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Confounding underlies the apparent month of birth effect in multiple sclerosis.

Annals Of Neurology

Fiddes, Barnaby B; Wason, James J; Kemppinen, Anu A; Ban, Maria M; Compston, Alastair A; Sawcer, Stephen S

Publication Date: 2013-06

Variant appearance in text: rs1042712

PubMed Link: 23744589

Variant Present in the following documents:

• Main text
• ana0073-0714.pdf

View BVdb publication page

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A British approach to sampling.

European Journal Of Human Genetics : Ejhg

Tyler-Smith, Chris C; Xue, Yali Y

Publication Date: 2012-02

Variant appearance in text: rs1042712

PubMed Link: 21829226

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.

Genes And Immunity

Musone, S L SL; Taylor, K E KE; Nititham, J J; Chu, C C; Poon, A A; Liao, W W; Lam, E T ET; Ma, A A; Kwok, P-Y PY; Criswell, L A LA

Publication Date: 2011-04

Variant appearance in text: rs1042712

PubMed Link: 21326317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interrogating local population structure for fine mapping in genome-wide association studies.

Bioinformatics (Oxford, England)

Qin, Huaizhen H; Morris, Nathan N; Kang, Sun J SJ; Li, Mingyao M; Tayo, Bamidele B; Lyon, Helen H; Hirschhorn, Joel J; Cooper, Richard S RS; Zhu, Xiaofeng X

Publication Date: 2010-12-01

Variant appearance in text: rs1042712

PubMed Link: 20889494

Variant Present in the following documents:

• Main text

View BVdb publication page

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Testing for non-random mating: evidence for ancestry-related assortative mating in the Framingham heart study.

Genetic Epidemiology

Sebro, Ronnie R; Hoffman, Thomas J TJ; Lange, Christoph C; Rogus, John J JJ; Risch, Neil J NJ

Publication Date: 2010-11

Variant appearance in text: rs1042712

PubMed Link: 20842694

Variant Present in the following documents:

• Main text

View BVdb publication page

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An assessment of the portability of ancestry informative markers between human populations.

Bmc Medical Genomics

Myles, Sean S; Stoneking, Mark M; Timpson, Nic N

Publication Date: 2009-07-20

Variant appearance in text: rs1042712

PubMed Link: 19619313

Variant Present in the following documents:

• Main text
• 1755-8794-2-45.pdf

View BVdb publication page

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Lactase persistence-related genetic variant: population substructure and health outcomes.

European Journal Of Human Genetics : Ejhg

Smith, George Davey GD; Lawlor, Debbie A DA; Timpson, Nic J NJ; Baban, Jamil J; Kiessling, Matt M; Day, Ian N M IN; Ebrahim, Shah S

Publication Date: 2009-03

Variant appearance in text: rs1042712

PubMed Link: 18797476

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Nature

,

Publication Date: 2007-06-07

Variant appearance in text: rs1042712

PubMed Link: 17554300

Variant Present in the following documents:

• Main text

View BVdb publication page

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Convergent adaptation of human lactase persistence in Africa and Europe.

Nature Genetics

Tishkoff, Sarah A SA; Reed, Floyd A FA; Ranciaro, Alessia A; Voight, Benjamin F BF; Babbitt, Courtney C CC; Silverman, Jesse S JS; Powell, Kweli K; Mortensen, Holly M HM; Hirbo, Jibril B JB; Osman, Maha M; Ibrahim, Muntaser M; Omar, Sabah A SA; Lema, Godfrey G; Nyambo, Thomas B TB; Ghori, Jilur J; Bumpstead, Suzannah S; Pritchard, Jonathan K JK; Wray, Gregory A GA; Deloukas, Panos P

Publication Date: 2007-01

Variant appearance in text: rs1042712

PubMed Link: 17159977

Variant Present in the following documents:

• Main text

View BVdb publication page

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