Publications:

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Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.

Nature Communications

Rämö, Joel T JT; Kiiskinen, Tuomo T; Seist, Richard R; Krebs, Kristi K; Kanai, Masahiro M; Karjalainen, Juha J; Kurki, Mitja M; Hämäläinen, Eija E; Häppölä, Paavo P; Havulinna, Aki S AS; Hautakangas, Heidi H; , ; Mägi, Reedik R; Palta, Priit P; Esko, Tõnu T; Metspalu, Andres A; Pirinen, Matti M; Karczewski, Konrad J KJ; Ripatti, Samuli S; Milani, Lili L; Stankovic, Konstantina M KM; Mäkitie, Antti A; Daly, Mark J MJ; Palotie, Aarno A

Publication Date: 2023-01-18

Variant appearance in text: rs3914132

PubMed Link: 36653343

Variant Present in the following documents:

• Main text
• 41467_2022_Article_32936.pdf

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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: rs3914132

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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The risks of RELN polymorphisms and its expression in the development of otosclerosis.

Plos One

Priyadarshi, Saurabh S; Hansdah, Kirtal K; Singh, Neha N; Bouzid, Amal A; Ray, Chinmay Sundar CS; Panda, Khirod Chandra KC; Biswal, Narayan Chandra NC; Desai, Ashim A; Choudhury, Jyotish Chandra JC; Tekari, Adel A; Masmoudi, Saber S; Ramchander, Puppala Venkat PV

Publication Date: 2022

Variant appearance in text: rs3914132

PubMed Link: 35658052

Variant Present in the following documents:

• Main text
• pone.0269558.pdf

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Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics

,

Publication Date: 2018-11-27

Variant appearance in text: rs3914132

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

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Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

Human Genetics

Mowat, Andrew J AJ; Crompton, Michael M; Ziff, Joanna L JL; Aldren, Christopher P CP; Lavy, Jeremy A JA; Saeed, Shakeel R SR; Dawson, Sally J SJ

Publication Date: 2018-05

Variant appearance in text: rs3914132

PubMed Link: 29728750

Variant Present in the following documents:

• Main text
• 439_2018_Article_1889.pdf

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The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population.

Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-Facciale

Iossa, S S; Corvino, V V; Giannini, P P; Salvato, R R; Cavaliere, M M; Panetti, M M; Panetti, G G; Piantedosi, B B; Marciano, E E; Franzè, A A

Publication Date: 2013-10

Variant appearance in text: rs3914132

PubMed Link: 24227897

Variant Present in the following documents:

• 0392-100X-33-320.pdf

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Complex-disease networks of trait-associated single-nucleotide polymorphisms (SNPs) unveiled by information theory.

Journal Of The American Medical Informatics Association : Jamia

Li, Haiquan H; Lee, Younghee Y; Chen, James L JL; Rebman, Ellen E; Li, Jianrong J; Lussier, Yves A YA

Publication Date: 2012

Variant appearance in text: rs3914132

PubMed Link: 22278381

Variant Present in the following documents:

• amiajnl-2011-000482.pdf

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A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.

American Journal Of Human Genetics

Schrauwen, Isabelle I; Ealy, Megan M; Huentelman, Matthew J MJ; Thys, Melissa M; Homer, Nils N; Vanderstraeten, Kathleen K; Fransen, Erik E; Corneveaux, Jason J JJ; Craig, David W DW; Claustres, Mireille M; Cremers, Cor W R J CW; Dhooge, Ingeborg I; Van de Heyning, Paul P; Vincent, Robert R; Offeciers, Erwin E; Smith, Richard J H RJ; Van Camp, Guy G

Publication Date: 2009-03

Variant appearance in text: rs3914132

PubMed Link: 19230858

Variant Present in the following documents:

• Main text

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