Publications:

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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: SLC39A7: S209S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Understanding signatures of positive natural selection in human zinc transporter genes.

Scientific Reports

Roca-Umbert, Ana A; Caro-Consuegra, Rocio R; Londono-Correa, Diego D; Rodriguez-Lozano, Gabriel Felipe GF; Vicente, Ruben R; Bosch, Elena E

Publication Date: 2022-03-12

Variant appearance in text: rs1547387

PubMed Link: 35279701

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8439.pdf

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: SLC39A7: 627C>G; Ser209Ser

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: SLC39A7: 627C>G; rs1547387

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

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: rs1547387

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Environmental and genetic contributors to salivary testosterone levels in infants.

Frontiers In Endocrinology

Xia, Kai K; Yu, Yang Y; Ahn, Mihye M; Zhu, Hongtu H; Zou, Fei F; Gilmore, John H JH; Knickmeyer, Rebecca C RC

Publication Date: 2014

Variant appearance in text: rs1547387

PubMed Link: 25400620

Variant Present in the following documents:

• Main text
• fendo-05-00187.pdf

View BVdb publication page

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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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 24784026

Variant Present in the following documents:

View BVdb publication page

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Pesticide exposure and inherited variants in vitamin d pathway genes in relation to prostate cancer.

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

Karami, Sara S; Andreotti, Gabriella G; Koutros, Stella S; Barry, Kathryn Hughes KH; Moore, Lee E LE; Han, Summer S; Hoppin, Jane A JA; Sandler, Dale P DP; Lubin, Jay H JH; Burdette, Laurie A LA; Yuenger, Jeffrey J; Yeager, Meredith M; Freeman, Laura E Beane LE; Blair, Aaron A; Alavanja, Michael C R MC

Publication Date: 2013-09

Variant appearance in text: rs1547387

PubMed Link: 23833127

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease.

European Journal Of Human Genetics : Ejhg

Kangas-Kontio, Tiia T; Kakko, Sakari S; Tamminen, Minna M; von Rohr, Peter P; Hoeschele, Ina I; Juvonen, Tatu T; Kere, Juha J; Savolainen, Markku J MJ

Publication Date: 2010-05

Variant appearance in text: rs1547387

PubMed Link: 19935834

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Circulation. Cardiovascular Genetics

Chasman, Daniel I DI; Paré, Guillaume G; Zee, Robert Y L RY; Parker, Alex N AN; Cook, Nancy R NR; Buring, Julie E JE; Kwiatkowski, David J DJ; Rose, Lynda M LM; Smith, Joshua D JD; Williams, Paul T PT; Rieder, Mark J MJ; Rotter, Jerome I JI; Nickerson, Deborah A DA; Krauss, Ronald M RM; Miletich, Joseph P JP; Ridker, Paul M PM

Publication Date: 2008-10

Variant appearance in text: rs1547387

PubMed Link: 19802338

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variability of RXRB, PPARA, and PPARG in Wegener's granulomatosis.

Ppar Research

Wieczorek, Stefan S; Knaup, Silvia S; Gross, Wolfgang L WL; Epplen, Jörg T JT

Publication Date: 2009

Variant appearance in text: N/A

PubMed Link: 19223982

Variant Present in the following documents:

View BVdb publication page

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