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: rs6430585

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.

Aging

Kulminski, Alexander M AM; Huang, Jian J; Loika, Yury Y; Arbeev, Konstantin G KG; Bagley, Olivia O; Yashkin, Arseniy A; Duan, Matt M; Culminskaya, Irina I

Publication Date: 2018-03-29

Variant appearance in text: rs6430585

PubMed Link: 29615537

Variant Present in the following documents:

• Main text

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World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.

Human Genetics

Liebert, Anke A; López, Saioa S; Jones, Bryony Leigh BL; Montalva, Nicolas N; Gerbault, Pascale P; Lau, Winston W; Thomas, Mark G MG; Bradman, Neil N; Maniatis, Nikolas N; Swallow, Dallas M DM

Publication Date: 2017-11

Variant appearance in text: rs6430585

PubMed Link: 29063188

Variant Present in the following documents:

• 439_2017_1847_MOESM1_ESM.pdf

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Genetic associations for keratoconus: a systematic review and meta-analysis.

Scientific Reports

Rong, Shi Song SS; Ma, Sarah Tsz Ue STU; Yu, Xin Ting XT; Ma, Li L; Chu, Wai Kit WK; Chan, Tommy Chung Yan TCY; Wang, Yu Meng YM; Young, Alvin L AL; Pang, Chi Pui CP; Jhanji, Vishal V; Chen, Li Jia LJ

Publication Date: 2017-07-04

Variant appearance in text: rs6430585

PubMed Link: 28676647

Variant Present in the following documents:

• Main text
• 41598_2017_Article_4393.pdf

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Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.

Investigative Ophthalmology & Visual Science

Bae, Ha Ae HA; Mills, Richard A D RA; Lindsay, Richard G RG; Phillips, Tony T; Coster, Douglas J DJ; Mitchell, Paul P; Wang, Jie Jin JJ; Craig, Jamie E JE; Burdon, Kathryn P KP

Publication Date: 2013-07-30

Variant appearance in text: rs6430585

PubMed Link: 23833071

Variant Present in the following documents:

• Main text

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The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis).

Transactions Of The American Ophthalmological Society

Francis, Peter James PJ

Publication Date: 2011-12

Variant appearance in text: rs6430585

PubMed Link: 22253485

Variant Present in the following documents:

• Main text

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A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

Human Molecular Genetics

Li, Xiaohui X; Bykhovskaya, Yelena Y; Haritunians, Talin T; Siscovick, David D; Aldave, Anthony A; Szczotka-Flynn, Loretta L; Iyengar, Sudha K SK; Rotter, Jerome I JI; Taylor, Kent D KD; Rabinowitz, Yaron S YS

Publication Date: 2012-01-15

Variant appearance in text: rs6430585

PubMed Link: 21979947

Variant Present in the following documents:

• Main text

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Comparison of genome-wide variation between Malawians and African ancestry HapMap populations.

Journal Of Human Genetics

Joubert, Bonnie R BR; North, Kari E KE; Wang, Yunfei Y; Mwapasa, Victor V; Franceschini, Nora N; Meshnick, Steven R SR; Lange, Ethan M EM

Publication Date: 2010-06

Variant appearance in text: rs6430585

PubMed Link: 20485449

Variant Present in the following documents:

• Main text

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