Publications:

---

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: rs10931468

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

New insights on the role of human leukocyte antigen complex in primary biliary cholangitis.

Frontiers In Immunology

Mulinacci, Giacomo G; Palermo, Andrea A; Gerussi, Alessio A; Asselta, Rosanna R; Gershwin, Merrill Eric ME; Invernizzi, Pietro P

Publication Date: 2022

Variant appearance in text: rs10931468

PubMed Link: 36119102

Variant Present in the following documents:

• Main text
• fimmu-13-975115.pdf

View BVdb publication page

---

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: rs10931468

PubMed Link: 32879140

Variant Present in the following documents:

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

View BVdb publication page

---

Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.

Genome Medicine

Márquez, Ana A; Kerick, Martin M; Zhernakova, Alexandra A; Gutierrez-Achury, Javier J; Chen, Wei-Min WM; Onengut-Gumuscu, Suna S; González-Álvaro, Isidoro I; Rodriguez-Rodriguez, Luis L; Rios-Fernández, Raquel R; González-Gay, Miguel A MA; , ; , ; , ; , ; Mayes, Maureen D MD; Raychaudhuri, Soumya S; Rich, Stephen S SS; Wijmenga, Cisca C; Martín, Javier J

Publication Date: 2018-12-20

Variant appearance in text: rs10931468

PubMed Link: 30572963

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes.

Yonsei Medical Journal

Park, Jong Sook JS; Son, Ji Hye JH; Park, Choon Sik CS; Chang, Hun Soo HS

Publication Date: 2019-01

Variant appearance in text: rs10931468

PubMed Link: 30554485

Variant Present in the following documents:

• Main text
• ymj-60-1.pdf

View BVdb publication page

---

Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports

Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M

Publication Date: 2018-01-30

Variant appearance in text: rs10931468

PubMed Link: 29382849

Variant Present in the following documents:

• 41598_2017_19017_MOESM1_ESM.pdf

View BVdb publication page

---

Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.

Journal Of Immunology Research

Joshita, Satoru S; Umemura, Takeji T; Tanaka, Eiji E; Ota, Masao M

Publication Date: 2017

Variant appearance in text: rs10931468

PubMed Link: 28255561

Variant Present in the following documents:

• Main text
• JIR2017-3073504.pdf

View BVdb publication page

---

Genome-Wide Association Studies in Primary Biliary Cirrhosis.

Seminars In Liver Disease

Gulamhusein, Aliya F AF; Juran, Brian D BD; Lazaridis, Konstantinos N KN

Publication Date: 2015-11

Variant appearance in text: rs10931468

PubMed Link: 26676814

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The immunogenetics of primary biliary cirrhosis: A comprehensive review.

Journal Of Autoimmunity

Webb, G J GJ; Siminovitch, K A KA; Hirschfield, G M GM

Publication Date: 2015-11

Variant appearance in text: rs10931468

PubMed Link: 26250073

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.

Arthritis Research & Therapy

Arismendi, Maria M; Giraud, Matthieu M; Ruzehaji, Nadira N; Dieudé, Philippe P; Koumakis, Eugenie E; Ruiz, Barbara B; Airo, Paolo P; Cusi, Daniele D; Matucci-Cerinic, Marco M; Salvi, Erika E; Cuomo, Giovanna G; Hachulla, Eric E; Diot, Elisabeth E; Caramaschi, Paola P; Riccieri, Valeria V; Avouac, Jérôme J; Kayser, Cristiane C; Allanore, Yannick Y

Publication Date: 2015-03-21

Variant appearance in text: rs10931468

PubMed Link: 25880423

Variant Present in the following documents:

• Main text
• 13075_2015_Article_572.pdf

View BVdb publication page

---

Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

Nature Genetics

Lessard, Christopher J CJ; Li, He H; Adrianto, Indra I; Ice, John A JA; Rasmussen, Astrid A; Grundahl, Kiely M KM; Kelly, Jennifer A JA; Dozmorov, Mikhail G MG; Miceli-Richard, Corinne C; Bowman, Simon S; Lester, Sue S; Eriksson, Per P; Eloranta, Maija-Leena ML; Brun, Johan G JG; Gøransson, Lasse G LG; Harboe, Erna E; Guthridge, Joel M JM; Kaufman, Kenneth M KM; Kvarnström, Marika M; Jazebi, Helmi H; Cunninghame Graham, Deborah S DS; Grandits, Martha E ME; Nazmul-Hossain, Abu N M AN; Patel, Ketan K; Adler, Adam J AJ; Maier-Moore, Jacen S JS; Farris, A Darise AD; Brennan, Michael T MT; Lessard, James A JA; Chodosh, James J; Gopalakrishnan, Rajaram R; Hefner, Kimberly S KS; Houston, Glen D GD; Huang, Andrew J W AJ; Hughes, Pamela J PJ; Lewis, David M DM; Radfar, Lida L; Rohrer, Michael D MD; Stone, Donald U DU; Wren, Jonathan D JD; Vyse, Timothy J TJ; Gaffney, Patrick M PM; James, Judith A JA; Omdal, Roald R; Wahren-Herlenius, Marie M; Illei, Gabor G GG; Witte, Torsten T; Jonsson, Roland R; Rischmueller, Maureen M; Rönnblom, Lars L; Nordmark, Gunnel G; Ng, Wan-Fai WF; , ; Mariette, Xavier X; Anaya, Juan-Manuel JM; Rhodus, Nelson L NL; Segal, Barbara M BM; Scofield, R Hal RH; Montgomery, Courtney G CG; Harley, John B JB; Sivils, Kathy L KL

Publication Date: 2013-11

Variant appearance in text: rs10931468

PubMed Link: 24097067

Variant Present in the following documents:

• NIHMS54762-supplement-1.pdf

View BVdb publication page

---

Common risk alleles for inflammatory diseases are targets of recent positive selection.

American Journal Of Human Genetics

Raj, Towfique T; Kuchroo, Manik M; Replogle, Joseph M JM; Raychaudhuri, Soumya S; Stranger, Barbara E BE; De Jager, Philip L PL

Publication Date: 2013-04-04

Variant appearance in text: rs10931468

PubMed Link: 23522783

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Nature Genetics

Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA

Publication Date: 2011-03-13

Variant appearance in text: rs10931468

PubMed Link: 21399635

Variant Present in the following documents:

• Main text
• NIHMS34438-supplement-1.pdf

View BVdb publication page

---