Featured Publications
Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk
Yasuno K, Bakırcıoğlu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, Jääskeläinen JE, Krex D, Auburger G, Simon M, Krischek B, Ozturk AK, Mane S, Rinkel GJ, Steinmetz H, Hernesniemi J, Schaller K, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 19707-19712. PMID: 22106312, PMCID: PMC3241810, DOI: 10.1073/pnas.1117137108.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesDiscovery cohortDisease-related lociReplication cohortSignificant associationEndothelin receptor type AGenomic regionsChromosome 12q22Genetic evidenceIndependent Japanese cohortsIntracranial aneurysm formationRisk lociA geneEvidence of associationAssociation studiesEndothelin pathwayAneurysm formationEndothelin signalingCardiovascular disordersJapanese cohortLociCohortCommon variantsGenetic factorsTreatment of IA
2021
The genetic structure of the Turkish population reveals high levels of variation and admixture
Kars ME, Başak AN, Onat OE, Bilguvar K, Choi J, Itan Y, Çağlar C, Palvadeau R, Casanova JL, Cooper DN, Stenson PD, Yavuz A, Buluş H, Günel M, Friedman JM, Özçelik T. The genetic structure of the Turkish population reveals high levels of variation and admixture. Proceedings Of The National Academy Of Sciences Of The United States Of America 2021, 118: e2026076118. PMID: 34426522, PMCID: PMC8433500, DOI: 10.1073/pnas.2026076118.Peer-Reviewed Original ResearchConceptsGenetic structureTR populationGenome-wide association studiesRuns of homozygosityGenomes Project populationsHigh inbreeding coefficientsDisease gene discoveryHigh-quality haplotypesPotential medical relevanceGene discoveryExtensive admixturePhenotypic consequencesWhole genomeGenetic basisInbreeding coefficientSpecific genesRare rangeGenome variantsAssociation studiesGenetic relationshipsFunctional consequencesWhole exomeSpecific phenotypesGenotype imputationMedical relevance
2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu M, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics 2015, 47: 528-534. PMID: 25848753, PMCID: PMC4414867, DOI: 10.1038/ng.3256.Peer-Reviewed Original Research
2014
High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms
Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van 't Hof FN, Fraunberg M, Helisalmi S, Hiltunen M, Lehto H, Laakso A, Kivisaari R, Koivisto T, Ronkainen A, Rinne J, Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, Aromaa A, Perola M, Lehtimäki T, Raitakari OT, Salomaa V, Gunel M, Dermitzakis ET, Ruigrok YM, Rinkel GJ, Niemelä M, Hernesniemi J, Ripatti S, de Bakker PI, Palotie A, Jääskeläinen JE. High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms. PLOS Genetics 2014, 10: e1004134. PMID: 24497844, PMCID: PMC3907358, DOI: 10.1371/journal.pgen.1004134.Peer-Reviewed Original Research