top of page

Publications

Human CRY1 variants associate with attention deficit/hyperactivity disorder

Authors: Onat OE, Kars ME, Gul S, Bilguvar K, Wu Y, Ozhan A, Aydin C, Basak AN, Trusso MA, Goracci A, Fallerini C, Renieri A, Casanova JL, Itan Y, Atbasoglu CE, Saka MC, Kavakli H, Ozcelik T.

Journal: Journal of Clinical Investigation (JCI)

Year: 2020

DOI: 10.1172/JCI135500

PMID: 32538895

JCI-fotor-bg-remover-20240216115451.png

Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation

Authors: Demirayak P, Onat OE, Gevrekci AO, Gulsuner S, Uysal H, Bilgen RS, Doerschner K, Ozcelik T, Boyaci H.

Journal: Diagnostic and Interventional Radiology (Diagn Interv Radiol)

Year: 2018

DOI: 10.5152/dir.2018.18096

PMID: 30406765

DIR.png

Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder

Authors: Patke A, Murphy PJ, Onat OE, Krieger AC, Ozcelik T, Campbell SS, Young MW.

Journal: Cell Press

Year: 2017

DOI: 10.1016/j.cell.2017.03.027

PMID: 28388406

Cell-Press-fotor-bg-remover-20240216115422_edited.png

Meta-analysis of Commonly Mutated Genes in Leptomeningeal Carcinomatosis

Authors: Congur I, Koni E, Onat OE, Tokcaer Keskin Z.

Journal: PeerJ

Year: 2023

DOI: 10.7717/peerj.15250

PMID: 37096065

peerj-PhotoRoom.png-PhotoRoom.png

The genetic structure of the Turkish population reveals high levels of variation and admixture

Authors: Kars ME, BaÅŸak AN, Onat OE, Bilguvar K, Choi J, Itan Y, ÇaÄŸlar C, Palvadeau R, Casanova JL, Cooper DN, Stenson PD, Yavuz A, BuluÅŸ H, Günel M, Friedman JM, Özçelik T.

Journal: Proceedings of the National Academy of Sciences (PNAS)

Year: 2021

DOI: 10.1073/pnas.2026076118

PMID: 34426522

PNAS_Logo-PhotoRoom.png-PhotoRoom.png

Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases

Authors: Akar OS, Gunes S, Abur U, Altundag E, Asci R, Onat OE, Ozcelik T, Ogur G.

Journal: Andrologia

Year: 2020

DOI: 10.1111/and.13739

PMID: 3288206

Genomic landscape of the Greater Middle East

Authors: Ozcelik T, Onat OE

Journal: Nature Genetics

Year: 2016

DOI: 10.1038/ng.3652

PMID: 27573686

zyro-image_edited.png

Evaluation of X Chromosome Inactivation with Respect to HLA Genetic Susceptibility in Rheumatoid Arthritis and Systemic Sclerosis

Authors: Kanaan SB, Onat OE, Balandraud N, Martin GV, Nelson JL, Azzouz DF, Auger I, Arnoux F, Martin M, Roudier J, Ozcelik T, Lambert NC.

Journal: PLoS One

Year: 2016

DOI: 10.1371/journal.pone.0158550

PMID: 27355582

plosone.png

Reply to Tzoulis et al.: Genetic and clinicalheterogeneity of essential tremor

Authors: Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB.

Journal: Proceedings of the National Academy of Sciences (PNAS)

Year: 2015

DOI: 10.1073/pnas.1503756112

PMID: 25825780

PNAS_Logo-PhotoRoom.png-PhotoRoom.png

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

Authors: Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB.

Journal:  Proceedings of the National Academy of Sciences (PNAS)

Year: 2014

DOI: 10.1073/pnas.1419581111

PMID: 25422467

PNAS_Logo-PhotoRoom.png-PhotoRoom.png

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair

Authors:  Dal GM, Erguner B, Sagiroglu MS, Yuksel B, Onat OE, Alkan C, Ozcelik T.

Journal:  Journal of Medical Genetics

Year: 2014

DOI:  10.1136/jmedgenet-2013-102197

PMID: 24764354

JMG_edited.jpg

Disruption of HDX gene in premature ovarian failure

Authors: Okten G, Gunes S, Onat OE,, Tukun A, Ozcelik T, Kocak I.

Journal: Systems Biology in Reproductive Medicine (SBiRM)

Year: 2013

DOI: 10.3109/19396368.2013.769028

PMID: 23441923

system_edited.jpg

Two males with SRY-positive 46,XX testicular disorder of sex development

Authors: Gunes S, Asci R, Okten G, Atac F, Onat OE, Ogur G, Aydin O, Ozcelik T, Bagci H.

Journal:  Systems Biology in Reproductive Medicine (SBiRM)

Year: 2012

DOI: 10.3109/19396368.2012.731624

PMID: 23110663

system_edited.jpg

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Authors: Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T.

Journal: European Journal of Human Genetics

Year: 2012

DOI: 10.1038/ejhg.2012.170

PMID: 22892528

humangenetics_edited.jpg

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

Authors: Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T.

Journal: Genome Research

Year: 2011

DOI: 10.1101/gr.126110.111

PMID: 21885617

genomeresearch.jpeg

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion

Authors: Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U.

Journal: Proceedings of the National Academy of Sciences (PNAS)

Year: 2008

DOI:  10.1073/pnas.0804078105

PMID: 18544652

PNAS_Logo-PhotoRoom.png-PhotoRoom.png

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

Authors: Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U

Journal: Proceedings of the National Academy of Sciences (PNAS)

Year: 2008

DOI: 10.1073/pnas.0710010105

PMID: 18326629

PNAS_Logo-PhotoRoom.png-PhotoRoom.png

MDM2 T309G polymorphism is associated with bladder cancer

Authors: Onat OE, Tez M, Ozcelik T, Toruner GA.

Journal: Anticancer Research

Year: 2006

Full Text: https://ar.iiarjournals.org/content/26/5A/3473

PMID:  17094469

anticancer_edited.jpg
bottom of page