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: rs11950562

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection.

Nature Communications

Pankratov, Vasili V; Yunusbaeva, Milyausha M; Ryakhovsky, Sergei S; Zarodniuk, Maksym M; , ; Yunusbayev, Bayazit B

Publication Date: 2022-11-18

Variant appearance in text: rs11950562

PubMed Link: 36400766

Variant Present in the following documents:

• 41467_2022_34461_MOESM1_ESM.pdf

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Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology

Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K

Publication Date: 2021-09-27

Variant appearance in text: rs11950562

PubMed Link: 34580418

Variant Present in the following documents:

• 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs11950562

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Integrative genomics analysis of various omics data and networks identify risk genes and variants vulnerable to childhood-onset asthma.

Bmc Medical Genomics

Ma, Xiuqing X; Wang, Peilan P; Xu, Guobing G; Yu, Fang F; Ma, Yunlong Y

Publication Date: 2020-08-31

Variant appearance in text: rs11950562

PubMed Link: 32867763

Variant Present in the following documents:

• Main text
• 12920_2020_Article_768.pdf

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Disease-specific regulation of gene expression in a comparative analysis of juvenile idiopathic arthritis and inflammatory bowel disease.

Genome Medicine

Mo, Angela A; Marigorta, Urko M UM; Arafat, Dalia D; Chan, Lai Hin Kimi LHK; Ponder, Lori L; Jang, Se Ryeong SR; Prince, Jarod J; Kugathasan, Subra S; Prahalad, Sampath S; Gibson, Greg G

Publication Date: 2018-06-27

Variant appearance in text: rs11950562

PubMed Link: 29950172

Variant Present in the following documents:

• Main text
• 13073_2018_Article_558.pdf

View BVdb publication page

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Whole-Genome Sequencing of a Healthy Aging Cohort.

Cell

Erikson, Galina A GA; Bodian, Dale L DL; Rueda, Manuel M; Molparia, Bhuvan B; Scott, Erick R ER; Scott-Van Zeeland, Ashley A AA; Topol, Sarah E SE; Wineinger, Nathan E NE; Niederhuber, John E JE; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2016-05-05

Variant appearance in text: rs11950562

PubMed Link: 27114037

Variant Present in the following documents:

• Main text

View BVdb publication page

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Metabolic heritability at birth: implications for chronic disease research.

Human Genetics

Ryckman, Kelli K KK; Smith, Caitlin J CJ; Jelliffe-Pawlowski, Laura L LL; Momany, Allison M AM; Berberich, Stanton L SL; Murray, Jeffrey C JC

Publication Date: 2014-08

Variant appearance in text: rs11950562

PubMed Link: 24850141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide interaction studies reveal sex-specific asthma risk alleles.

Human Molecular Genetics

Myers, Rachel A RA; Scott, Nicole M NM; Gauderman, W James WJ; Qiu, Weiliang W; Mathias, Rasika A RA; Romieu, Isabelle I; Levin, Albert M AM; Pino-Yanes, Maria M; Graves, Penelope E PE; Villarreal, Albino Barraza AB; Beaty, Terri H TH; Carey, Vincent J VJ; Croteau-Chonka, Damien C DC; del Rio Navarro, Blanca B; Edlund, Christopher C; Hernandez-Cadena, Leticia L; Navarro-Olivos, Efrain E; Padhukasahasram, Badri B; Salam, Muhammad T MT; Torgerson, Dara G DG; Van den Berg, David J DJ; Vora, Hita H; Bleecker, Eugene R ER; Meyers, Deborah A DA; Williams, L Keoki LK; Martinez, Fernando D FD; Burchard, Esteban G EG; Barnes, Kathleen C KC; Gilliland, Frank D FD; Weiss, Scott T ST; London, Stephanie J SJ; Raby, Benjamin A BA; Ober, Carole C; Nicolae, Dan L DL; ,

Publication Date: 2014-10-01

Variant appearance in text: rs11950562

PubMed Link: 24824216

Variant Present in the following documents:

• Main text

View BVdb publication page

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