Publications:

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Sex differences in the genetics of sarcoidosis across European and African ancestry populations.

Frontiers In Medicine

Xiong, Ying Y; Kullberg, Susanna S; Garman, Lori L; Pezant, Nathan N; Ellinghaus, David D; Vasila, Vasiliki V; Eklund, Anders A; Rybicki, Benjamin A BA; Iannuzzi, Michael C MC; Schreiber, Stefan S; Müller-Quernheim, Joachim J; Montgomery, Courtney G CG; Grunewald, Johan J; Padyukov, Leonid L; Rivera, Natalia V NV

Publication Date: 2023

Variant appearance in text: rs2239802

PubMed Link: 37250650

Variant Present in the following documents:

• Main text
• fmed-10-1132799.pdf

View BVdb publication page

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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: rs2239802

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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HLA-DRB1*07:01 and *08:02 Alleles Confer a Protective Effect Against ACPA-Positive Rheumatoid Arthritis in a Latin American Admixed Population.

Biology

Castro-Santos, Patricia P; Olloquequi, Jordi J; Verdugo, Ricardo A RA; Gutiérrez, Miguel A MA; Pinochet, Carmen C; Quiñones, Luis A LA; Díaz-Peña, Roberto R

Publication Date: 2020-12-14

Variant appearance in text: rs2239802

PubMed Link: 33327594

Variant Present in the following documents:

• Main text
• biology-09-00467.pdf

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Extended methods for gene-environment-wide interaction scans in studies of admixed individuals with varying degrees of relationships.

Genetic Epidemiology

Chen, Yalei Y; Adrianto, Indra I; Ianuzzi, Michael C MC; Garman, Lori L; Montgomery, Courtney G CG; Rybicki, Benjamin A BA; Levin, Albert M AM; Li, Jia J

Publication Date: 2019-06

Variant appearance in text: rs2239802

PubMed Link: 30793815

Variant Present in the following documents:

• Main text

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: rs2239802

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.

Embo Molecular Medicine

Haas, Jan J; Mester, Stefan S; Lai, Alan A; Frese, Karen S KS; Sedaghat-Hamedani, Farbod F; Kayvanpour, Elham E; Rausch, Tobias T; Nietsch, Rouven R; Boeckel, Jes-Niels JN; Carstensen, Avisha A; Völkers, Mirko M; Dietrich, Carsten C; Pils, Dietmar D; Amr, Ali A; Holzer, Daniel B DB; Martins Bordalo, Diana D; Oehler, Daniel D; Weis, Tanja T; Mereles, Derliz D; Buss, Sebastian S; Riechert, Eva E; Wirsz, Emil E; Wuerstle, Maximilian M; Korbel, Jan O JO; Keller, Andreas A; Katus, Hugo A HA; Posch, Andreas E AE; Meder, Benjamin B

Publication Date: 2018-01

Variant appearance in text: rs2239802

PubMed Link: 29138229

Variant Present in the following documents:

• Main text
• EMMM-10-107.pdf

View BVdb publication page

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Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Scientific Reports

Ostrowski, Jerzy J; Paziewska, Agnieszka A; Lazowska, Izabella I; Ambrozkiewicz, Filip F; Goryca, Krzysztof K; Kulecka, Maria M; Rawa, Tomasz T; Karczmarski, Jakub J; Dabrowska, Michalina M; Zeber-Lubecka, Natalia N; Tomecki, Roman R; Kluska, Anna A; Balabas, Aneta A; Piatkowska, Magdalena M; Paczkowska, Katarzyna K; Kierkus, Jaroslaw J; Socha, Piotr P; Lodyga, Michal M; Rydzewska, Grazyna G; Klopocka, Maria M; Mierzwa, Grazyna G; Iwanczak, Barbara B; Krzesiek, Elzbieta E; Bak-Drabik, Katarzyna K; Walkowiak, Jaroslaw J; Klincewicz, Beata B; Radwan, Piotr P; Grzybowska-Chlebowczyk, Urszula U; Landowski, Piotr P; Jankowska, Agnieszka A; Korczowski, Bartosz B; Starzynska, Teresa T; Albrecht, Piotr P; Mikula, Michal M

Publication Date: 2016-12-23

Variant appearance in text: rs2239802

PubMed Link: 28008999

Variant Present in the following documents:

• Main text
• srep39831.pdf

View BVdb publication page

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High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

American Journal Of Respiratory And Critical Care Medicine

Rivera, Natalia V NV; Ronninger, Marcus M; Shchetynsky, Klementy K; Franke, Andre A; Nöthen, Markus M MM; Müller-Quernheim, Joachim J; Schreiber, Stefan S; Adrianto, Indra I; Karakaya, Bekir B; van Moorsel, Coline H M CH; Navratilova, Zdenka Z; Kolek, Vitezslav V; Rybicki, Benjamin A BA; Iannuzzi, Michael C MC; Petrek, Martin M; Grutters, Jan C JC; Montgomery, Courtney C; Fischer, Annegret A; Eklund, Anders A; Padyukov, Leonid L; Grunewald, Johan J

Publication Date: 2016-05-01

Variant appearance in text: rs2239802

PubMed Link: 26651848

Variant Present in the following documents:

• Main text

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: rs2239802

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 2
• NIHMS580846-supplement-1.xlsx, sheet 3

View BVdb publication page

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Identification of two independent risk factors for lupus within the MHC in United Kingdom families.

Plos Genetics

Fernando, Michelle M A MM; Stevens, Christine R CR; Sabeti, Pardis C PC; Walsh, Emily C EC; McWhinnie, Alasdair J M AJ; Shah, Anila A; Green, Todd T; Rioux, John D JD; Vyse, Timothy J TJ

Publication Date: 2007-11

Variant appearance in text: rs2239802

PubMed Link: 17997607

Variant Present in the following documents:

• Main text

View BVdb publication page

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Finding disease candidate genes by liquid association.

Genome Biology

Li, Ker-Chau KC; Palotie, Aarno A; Yuan, Shinsheng S; Bronnikov, Denis D; Chen, Daniel D; Wei, Xuelian X; Choi, Oi-Wa OW; Saarela, Janna J; Peltonen, Leena L

Publication Date: 2007

Variant appearance in text: rs2239802

PubMed Link: 17915034

Variant Present in the following documents:

• Main text

View BVdb publication page

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PRKCA and multiple sclerosis: association in two independent populations.

Plos Genetics

Saarela, Janna J; Kallio, Suvi P SP; Chen, Daniel D; Montpetit, Alexandre A; Jokiaho, Anne A; Choi, Eva E; Asselta, Rosanna R; Bronnikov, Denis D; Lincoln, Matthew R MR; Sadovnick, A Dessa AD; Tienari, Pentti J PJ; Koivisto, Keijo K; Palotie, Aarno A; Ebers, George C GC; Hudson, Thomas J TJ; Peltonen, Leena L

Publication Date: 2006-03

Variant appearance in text: rs2239802

PubMed Link: 16596167

Variant Present in the following documents:

• Main text
• pgen.0020042.pdf

View BVdb publication page

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