Publications:

---

Airway wall splice quantitative trait locus analysis reveals novel downstream mechanisms for known asthma single-nucleotide polymorphisms.

Erj Open Research

Kole, Tessa M TM; Pouwels, Simon D SD; Bults, Rene R; Ketelaar, Marlies E ME; Guryev, Victor V; Koll, Lisanne L; Kerstjens, Huib A M HAM; Nawijn, Martijn C MC; Faiz, Alen A; van den Berge, Maarten M

Publication Date: 2023-03

Variant appearance in text: rs11042902

PubMed Link: 37020836

Variant Present in the following documents:

• 00413-2022.pdf

View BVdb publication page

---

Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs11042902

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.

Nature Genetics

Hautakangas, Heidi H; Winsvold, Bendik S BS; Ruotsalainen, Sanni E SE; Bjornsdottir, Gyda G; Harder, Aster V E AVE; Kogelman, Lisette J A LJA; Thomas, Laurent F LF; Noordam, Raymond R; Benner, Christian C; Gormley, Padhraig P; Artto, Ville V; Banasik, Karina K; Bjornsdottir, Anna A; Boomsma, Dorret I DI; Brumpton, Ben M BM; Burgdorf, Kristoffer Sølvsten KS; Buring, Julie E JE; Chalmer, Mona Ameri MA; de Boer, Irene I; Dichgans, Martin M; Erikstrup, Christian C; Färkkilä, Markus M; Garbrielsen, Maiken Elvestad ME; Ghanbari, Mohsen M; Hagen, Knut K; Häppölä, Paavo P; Hottenga, Jouke-Jan JJ; Hrafnsdottir, Maria G MG; Hveem, Kristian K; Johnsen, Marianne Bakke MB; Kähönen, Mika M; Kristoffersen, Espen S ES; Kurth, Tobias T; Lehtimäki, Terho T; Lighart, Lannie L; Magnusson, Sigurdur H SH; Malik, Rainer R; Pedersen, Ole Birger OB; Pelzer, Nadine N; Penninx, Brenda W J H BWJH; Ran, Caroline C; Ridker, Paul M PM; Rosendaal, Frits R FR; Sigurdardottir, Gudrun R GR; Skogholt, Anne Heidi AH; Sveinsson, Olafur A OA; Thorgeirsson, Thorgeir E TE; Ullum, Henrik H; Vijfhuizen, Lisanne S LS; Widén, Elisabeth E; van Dijk, Ko Willems KW; , ; , ; , ; Aromaa, Arpo A; Belin, Andrea Carmine AC; Freilinger, Tobias T; Ikram, M Arfan MA; Järvelin, Marjo-Riitta MR; Raitakari, Olli T OT; Terwindt, Gisela M GM; Kallela, Mikko M; Wessman, Maija M; Olesen, Jes J; Chasman, Daniel I DI; Nyholt, Dale R DR; Stefánsson, Hreinn H; Stefansson, Kari K; van den Maagdenberg, Arn M J M AMJM; Hansen, Thomas Folkmann TF; Ripatti, Samuli S; Zwart, John-Anker JA; Palotie, Aarno A; Pirinen, Matti M

Publication Date: 2022-02

Variant appearance in text: rs11042902

PubMed Link: 35115687

Variant Present in the following documents:

• 41588_2021_Article_990.pdf

View BVdb publication page

---

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: rs11042902

PubMed Link: 34580418

Variant Present in the following documents:

• 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs11042902

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs11042902

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs11042902

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants.

Scientific Reports

Fung, Kenneth K; Ramírez, Julia J; Warren, Helen R HR; Aung, Nay N; Lee, Aaron M AM; Tzanis, Evan E; Petersen, Steffen E SE; Munroe, Patricia B PB

Publication Date: 2019-06-24

Variant appearance in text: rs11042902

PubMed Link: 31235810

Variant Present in the following documents:

• Main text
• 41598_2019_Article_45703.pdf

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs11042902

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

---

Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: rs11042902

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs11042902

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

---

Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.

American Journal Of Human Genetics

Hiller, Michael M; Huse, Klaus K; Szafranski, Karol K; Jahn, Niels N; Hampe, Jochen J; Schreiber, Stefan S; Backofen, Rolf R; Platzer, Matthias M

Publication Date: 2006-02

Variant appearance in text: rs11042902

PubMed Link: 16400609

Variant Present in the following documents:

• Main text

View BVdb publication page

---