Publications:

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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: rs203674

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: CFH: 1520-98G>T; rs203674

PubMed Link: 30319441

Variant Present in the following documents:

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

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Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.

Jama Ophthalmology

Schellevis, Rosa L RL; van Dijk, Elon H C EHC; Breukink, Myrte B MB; Altay, Lebriz L; Bakker, Bjorn B; Koeleman, Bobby P C BPC; Kiemeney, Lambertus A LA; Swinkels, Dorine W DW; Keunen, Jan E E JEE; Fauser, Sascha S; Hoyng, Carel B CB; den Hollander, Anneke I AI; Boon, Camiel J F CJF; de Jong, Eiko K EK

Publication Date: 2018-10-01

Variant appearance in text: rs203674

PubMed Link: 30073298

Variant Present in the following documents:

• Main text

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A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.

Scientific Reports

Ding, Yin Y; Zhao, Weiwei W; Zhang, Tao T; Qiang, Hao H; Lu, Jianping J; Su, Xin X; Wen, Shuzhen S; Xu, Feng F; Zhang, Mingchao M; Zhang, Haitao H; Zeng, Caihong C; Liu, Zhihong Z; Chen, Huimei H

Publication Date: 2017-07-20

Variant appearance in text: rs203674

PubMed Link: 28729648

Variant Present in the following documents:

• Main text
• 41598_2017_Article_5173.pdf

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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: rs203674

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Complement factor H and LOC387715/ARMS2/HTRA1 variant's frequencies and phenotypic associations in neovascular age-related macular degeneration, a pilot study.

Journal Of Current Ophthalmology

Karkhane, Reza R; Ahmadraji, Aliasghar A; Riazi Esfahani, Mohammad M; Roohipour, Ramak R; Alami Harandi, Zahra Z; Lashay, Alireza A; Kermani, Mehdi Sharifzadeh MS; Roozafzoon, Reza R; Khoshzaban, Ahad A

Publication Date: 2016-03

Variant appearance in text: rs203674

PubMed Link: 27239600

Variant Present in the following documents:

• Main text
• main.pdf

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Kullback-Leibler divergence for detection of rare haplotype common disease association.

European Journal Of Human Genetics : Ejhg

Lin, Shili S

Publication Date: 2015-11

Variant appearance in text: rs203674

PubMed Link: 25735482

Variant Present in the following documents:

• Main text

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Detecting rare haplotype-environment interaction with logistic Bayesian LASSO.

Genetic Epidemiology

Biswas, Swati S; Xia, Shuang S; Lin, Shili S

Publication Date: 2014-01

Variant appearance in text: rs203674

PubMed Link: 24272913

Variant Present in the following documents:

• Main text

View BVdb publication page

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The major risk alleles of age-related macular degeneration (AMD) in CFH do not play a major role in rheumatoid arthritis (RA).

Clinical And Experimental Immunology

Trouw, L A LA; Böhringer, S S; Daha, N A NA; Stahl, E A EA; Raychaudhuri, S S; Kurreeman, F A FA; Stoeken-Rijsbergen, G G; Houwing-Duistermaat, J J JJ; Huizinga, T W TW; Toes, R E RE

Publication Date: 2011-12

Variant appearance in text: rs203674

PubMed Link: 22059990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Plasma biomarkers of oxidative stress and genetic variants in age-related macular degeneration.

American Journal Of Ophthalmology

Brantley, Milam A MA; Osborn, Melissa P MP; Sanders, Barton J BJ; Rezaei, Kasra A KA; Lu, Pengcheng P; Li, Chun C; Milne, Ginger L GL; Cai, Jiyang J; Sternberg, Paul P

Publication Date: 2012-03

Variant appearance in text: rs203674

PubMed Link: 22035603

Variant Present in the following documents:

• Main text

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Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.

Molecular Vision

Ryu, Euijung E; Fridley, Brooke L BL; Tosakulwong, Nirubol N; Bailey, Kent R KR; Edwards, Albert O AO

Publication Date: 2010-12-17

Variant appearance in text: rs203674

PubMed Link: 21197116

Variant Present in the following documents:

• Main text
• mv-v16-2811.pdf

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New era for personalized medicine: the diagnosis and management of age-related macular degeneration.

Clinical & Experimental Ophthalmology

Baird, Paul N PN; Hageman, Gregory S GS; Guymer, Robyn H RH

Publication Date: 2009-11

Variant appearance in text: rs203674

PubMed Link: 19878229

Variant Present in the following documents:

• Main text

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Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration.

American Journal Of Ophthalmology

Andreoli, Michael T MT; Morrison, Margaux A MA; Kim, Ben J BJ; Chen, Ling L; Adams, Scott M SM; Miller, Joan W JW; DeAngelis, Margaret M MM; Kim, Ivana K IK

Publication Date: 2009-12

Variant appearance in text: rs203674

PubMed Link: 19796758

Variant Present in the following documents:

• Main text

View BVdb publication page

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The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.

Bmc Medical Genetics

Zhang, Hong H; Morrison, Margaux A MA; Dewan, Andy A; Adams, Scott S; Andreoli, Michael M; Huynh, Nancy N; Regan, Maureen M; Brown, Alison A; Miller, Joan W JW; Kim, Ivana K IK; Hoh, Josephine J; Deangelis, Margaret M MM

Publication Date: 2008-06-09

Variant appearance in text: rs203674

PubMed Link: 18541031

Variant Present in the following documents:

• Main text

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Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.

Plos One

Francis, Peter J PJ; Schultz, Dennis W DW; Hamon, Sara S; Ott, Jurg J; Weleber, Richard G RG; Klein, Michael L ML

Publication Date: 2007-11-28

Variant appearance in text: rs203674

PubMed Link: 18043728

Variant Present in the following documents:

• Main text
• pone.0001197.pdf

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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hageman, Gregory S GS; Anderson, Don H DH; Johnson, Lincoln V LV; Hancox, Lisa S LS; Taiber, Andrew J AJ; Hardisty, Lisa I LI; Hageman, Jill L JL; Stockman, Heather A HA; Borchardt, James D JD; Gehrs, Karen M KM; Smith, Richard J H RJ; Silvestri, Giuliana G; Russell, Stephen R SR; Klaver, Caroline C W CC; Barbazetto, Irene I; Chang, Stanley S; Yannuzzi, Lawrence A LA; Barile, Gaetano R GR; Merriam, John C JC; Smith, R Theodore RT; Olsh, Adam K AK; Bergeron, Julie J; Zernant, Jana J; Merriam, Joanna E JE; Gold, Bert B; Dean, Michael M; Allikmets, Rando R

Publication Date: 2005-05-17

Variant appearance in text: rs203674

PubMed Link: 15870199

Variant Present in the following documents:

• Main text

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