Publications:

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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: rs170548

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs170548

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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ATM in breast and brain tumors: a comprehensive review.

Cancer Biology & Medicine

Estiar, Mehrdad Asghari MA; Mehdipour, Parvin P

Publication Date: 2018-08

Variant appearance in text: rs170548

PubMed Link: 30197789

Variant Present in the following documents:

• Main text
• cbm-15-3-210.pdf

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The genetic component of human longevity: New insights from the analysis of pathway-based SNP-SNP interactions.

Aging Cell

Dato, Serena S; Soerensen, Mette M; De Rango, Francesco F; Rose, Giuseppina G; Christensen, Kaare K; Christiansen, Lene L; Passarino, Giuseppe G

Publication Date: 2018-06

Variant appearance in text: rs170548

PubMed Link: 29577582

Variant Present in the following documents:

• Main text
• ACEL-17-e12755.pdf

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The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.

Therapeutic Advances In Respiratory Disease

Xu, Yanling Y; Gao, Peng P; Lv, Xuejiao X; Zhang, Lin L; Zhang, Jie J

Publication Date: 2017-09

Variant appearance in text: rs170548

PubMed Link: 28825373

Variant Present in the following documents:

• Main text

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Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population.

Frontiers In Public Health

Myneni, Ajay A AA; Chang, Shen-Chih SC; Niu, Rungui R; Liu, Li L; Zhao, Baoxing B; Shi, Jianping J; Han, Xiaoyou X; Li, Jiawei J; Su, Jia J; Yu, Shunzhang S; Zhang, Zuo-Feng ZF; Mu, Lina L

Publication Date: 2017

Variant appearance in text: rs170548

PubMed Link: 28642860

Variant Present in the following documents:

• Main text
• fpubh-05-00102.pdf

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs170548

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Common genetic variations in cell cycle and DNA repair pathways associated with pediatric brain tumor susceptibility.

Oncotarget

Adel Fahmideh, Maral M; Lavebratt, Catharina C; Schüz, Joachim J; Röösli, Martin M; Tynes, Tore T; Grotzer, Michael A MA; Johansen, Christoffer C; Kuehni, Claudia E CE; Lannering, Birgitta B; Prochazka, Michaela M; Schmidt, Lisbeth S LS; Feychting, Maria M

Publication Date: 2016-09-27

Variant appearance in text: rs170548

PubMed Link: 27613841

Variant Present in the following documents:

• Main text
• oncotarget-07-63640.pdf

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: rs170548

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2

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Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.

American Journal Of Epidemiology

O'Brien, Katie M KM; Cole, Stephen R SR; Poole, Charles C; Bensen, Jeannette T JT; Herring, Amy H AH; Engel, Lawrence S LS; Millikan, Robert C RC

Publication Date: 2014-02-01

Variant appearance in text: rs170548

PubMed Link: 24218030

Variant Present in the following documents:

• Main text

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Breast cancer subtypes and previously established genetic risk factors: a bayesian approach.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

O'Brien, Katie M KM; Cole, Stephen R SR; Engel, Lawrence S LS; Bensen, Jeannette T JT; Poole, Charles C; Herring, Amy H AH; Millikan, Robert C RC

Publication Date: 2014-01

Variant appearance in text: rs170548

PubMed Link: 24177593

Variant Present in the following documents:

• Main text

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Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

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

Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA

Publication Date: 2009-03-15

Variant appearance in text: rs170548

PubMed Link: 19276285

Variant Present in the following documents:

• Main text

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ATM sequence variants associate with susceptibility to non-small cell lung cancer.

International Journal Of Cancer

Yang, Hushan H; Spitz, Margaret R MR; Stewart, David J DJ; Lu, Charles C; Gorlov, Ivan P IP; Wu, Xifeng X

Publication Date: 2007-11-15

Variant appearance in text: rs170548

PubMed Link: 17582598

Variant Present in the following documents:

• Main text

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ATM haplotypes and breast cancer risk in Jewish high-risk women.

British Journal Of Cancer

Koren, M M; Kimmel, G G; Ben-Asher, E E; Gal, I I; Papa, M Z MZ; Beckmann, J S JS; Lancet, D D; Shamir, R R; Friedman, E E

Publication Date: 2006-05-22

Variant appearance in text: rs170548

PubMed Link: 16622469

Variant Present in the following documents:

• Main text
• 94-6603062a.pdf

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Haplotype and linkage disequilibrium architecture for human cancer-associated genes.

Genome Research

Bonnen, Penelope E PE; Wang, Peggy J PJ; Kimmel, Marek M; Chakraborty, Ranajit R; Nelson, David L DL

Publication Date: 2002-12

Variant appearance in text: rs170548

PubMed Link: 12466288

Variant Present in the following documents:

• Main text

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