Publications:

---

Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: PGAP3: V155V; rs2941504

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Exome variants associated with asthma and allergy.

Scientific Reports

Wjst, Matthias M

Publication Date: 2022-12-05

Variant appearance in text: PGAP3: 465T>C

PubMed Link: 36470944

Variant Present in the following documents:

• 41598_2022_24960_MOESM1_ESM.pdf

View BVdb publication page

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2941504

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: PGAP3: 465T>C; Val155Val; rs2941504

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: PGAP3: 465T>C; V155V; rs2941504

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Expression quantitative trait locus fine mapping of the 17q12-21 asthma locus in African American children: a genetic association and gene expression study.

The Lancet. Respiratory Medicine

Ober, Carole C; McKennan, Chris G CG; Magnaye, Kevin M KM; Altman, Matthew C MC; Washington, Charles C; Stanhope, Catherine C; Naughton, Katherine A KA; Rosasco, Mario G MG; Bacharier, Leonard B LB; Billheimer, Dean D; Gold, Diane R DR; Gress, Lisa L; Hartert, Tina T; Havstad, Suzanne S; Khurana Hershey, Gurjit K GK; Hallmark, Brian B; Hogarth, D Kyle DK; Jackson, Daniel J DJ; Johnson, Christine C CC; Kattan, Meyer M; Lemanske, Robert F RF; Lynch, Susan V SV; Mendonca, Eneida A EA; Miller, Rachel L RL; Naureckas, Edward T ET; O'Connor, George T GT; Seroogy, Christine M CM; Wegienka, Ganesa G; White, Steven R SR; Wood, Robert A RA; Wright, Anne L AL; Zoratti, Edward M EM; Martinez, Fernando D FD; Ownby, Dennis D; Nicolae, Dan L DL; Levin, Albert M AM; Gern, James E JE; ,

Publication Date: 2020-05

Variant appearance in text: rs2941504

PubMed Link: 32380068

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs2941504

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune Cell Proliferation.

Scientific Reports

Sio, Yang Yie YY; Anantharaman, Ramani R; Lee, Sean Qiu En SQE; Matta, Sri Anusha SA; Ng, Yu Ting YT; Chew, Fook Tim FT

Publication Date: 2020-01-20

Variant appearance in text: rs2941504

PubMed Link: 31959860

Variant Present in the following documents:

• Main text
• 41598_2020_Article_57592.pdf

View BVdb publication page

---

Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: PGAP3: V155V

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2941504

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: PGAP3: 465T>C; rs2941504

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.

Journal Of Lipid Research

Hebbar, Prashantha P; Nizam, Rasheeba R; Melhem, Motasem M; Alkayal, Fadi F; Elkum, Naser N; John, Sumi Elsa SE; Tuomilehto, Jaakko J; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-10

Variant appearance in text: rs2941504

PubMed Link: 30108155

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: PGAP3: 465T>C; V155V; rs2941504

PubMed Link: 29974678

Variant Present in the following documents:

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

View BVdb publication page

---

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications

Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M

Publication Date: 2018-06-21

Variant appearance in text: PGAP3: Val155Val; rs2941504

PubMed Link: 29930244

Variant Present in the following documents:

• 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.

The Journal Of Allergy And Clinical Immunology

Stein, Michelle M MM; Thompson, Emma E EE; Schoettler, Nathan N; Helling, Britney A BA; Magnaye, Kevin M KM; Stanhope, Catherine C; Igartua, Catherine C; Morin, Andréanne A; Washington, Charles C; Nicolae, Dan D; Bønnelykke, Klaus K; Ober, Carole C

Publication Date: 2018-09

Variant appearance in text: rs2941504

PubMed Link: 29307657

Variant Present in the following documents:

• Main text
• nihms-1506022.pdf

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: PGAP3: V155V; rs2941504

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: PGAP3: V155V; rs2941504

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

---

Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma.

Allergy

Nieuwenhuis, M A MA; Siedlinski, M M; van den Berge, M M; Granell, R R; Li, X X; Niens, M M; van der Vlies, P P; Altmüller, J J; Nürnberg, P P; Kerkhof, M M; van Schayck, O C OC; Riemersma, R A RA; van der Molen, T T; de Monchy, J G JG; Bossé, Y Y; Sandford, A A; Bruijnzeel-Koomen, C A CA; Gerth van Wijk, R R; Ten Hacken, N H NH; Timens, W W; Boezen, H M HM; Henderson, J J; Kabesch, M M; Vonk, J M JM; Postma, D S DS; Koppelman, G H GH

Publication Date: 2016-12

Variant appearance in text: rs2941504

PubMed Link: 27439200

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

---

Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications

Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O

Publication Date: 2015-08-10

Variant appearance in text: rs2941504

PubMed Link: 26259071

Variant Present in the following documents:

• ncomms8971-s1.pdf

View BVdb publication page

---

Complex genetics of pulmonary diseases: lessons from genome-wide association studies and next-generation sequencing.

Translational Research : The Journal Of Laboratory And Clinical Medicine

Pouladi, Nima N; Bime, Christian C; Garcia, Joe G N JGN; Lussier, Yves A YA

Publication Date: 2016-02

Variant appearance in text: rs2941504

PubMed Link: 26006746

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

---

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: PGAP3: V155V; rs2941504

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

---

Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma.

Frontiers In Genetics

Li, Lin L; Kabesch, Michael M; Bouzigon, Emmanuelle E; Demenais, Florence F; Farrall, Martin M; Moffatt, Miriam F MF; Lin, Xihong X; Liang, Liming L

Publication Date: 2013

Variant appearance in text: rs2941504

PubMed Link: 23755072

Variant Present in the following documents:

• Main text
• fgene-04-00103.pdf

View BVdb publication page

---

Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes.

The Journal Of Allergy And Clinical Immunology

Granell, Raquel R; Henderson, A John AJ; Timpson, Nicholas N; St Pourcain, Beate B; Kemp, John P JP; Ring, Susan M SM; Ho, Karen K; Montgomery, Stephen B SB; Dermitzakis, Emmanouil T ET; Evans, David M DM; Sterne, Jonathan A C JA

Publication Date: 2013-03

Variant appearance in text: rs2941504

PubMed Link: 23154084

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome-wide association study identifies PERLD1 as asthma candidate gene.

Bmc Medical Genetics

Anantharaman, Ramani R; Andiappan, Anand Kumar AK; Nilkanth, Pallavi Parate PP; Suri, Bani Kaur BK; Wang, De Yun de Y; Chew, Fook Tim FT

Publication Date: 2011-12-21

Variant appearance in text: rs2941504

PubMed Link: 22188591

Variant Present in the following documents:

• Main text
• 1471-2350-12-170.pdf

View BVdb publication page

---

A sequence variant on 17q21 is associated with age at onset and severity of asthma.

European Journal Of Human Genetics : Ejhg

Halapi, Eva E; Gudbjartsson, Daniel F DF; Jonsdottir, Gudrun M GM; Bjornsdottir, Unnur S US; Thorleifsson, Gudmar G; Helgadottir, Hafdis H; Williams, Carolyn C; Koppelman, Gerard H GH; Heinzmann, Andrea A; Boezen, H Marike HM; Jonasdottir, Aslaug A; Blondal, Thorarinn T; Gudjonsson, Sigurjon A SA; Jonasdottir, Adalbjorg A; Thorlacius, Theodora T; Henry, Amanda P AP; Altmueller, Janine J; Krueger, Marcus M; Shin, Hyoung Doo HD; Uh, Soo-Taek ST; Cheong, Hyun Sub HS; Jonsdottir, Brynja B; Ludviksson, Bjorn R BR; Ludviksdottir, Dora D; Gislason, David D; Park, Choon-Sik CS; Deichmann, Klaus K; Thompson, Philip J PJ; Wjst, Matthias M; Hall, Ian P IP; Postma, Dirkje S DS; Gislason, Thorarinn T; Kong, Augustine A; Jonsdottir, Ingileif I; Thorsteinsdottir, Unnur U; Stefansson, Kari K

Publication Date: 2010-08

Variant appearance in text: rs2941504

PubMed Link: 20372189

Variant Present in the following documents:

• Main text

View BVdb publication page

---