Publications by authors named "Ahmet Okay Ḉağlayan"

44Publications

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.

Cerebellum 2019 Jun;18(3):665-669

Molecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.

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June 2019

Homozygous mutations causing a spastic-ataxia phenotype in 2 families.

Neurol Genet 2018 Feb 18;4(1):e218. Epub 2018 Jan 18.

Suna and Inan Kirac Foundation (C.K., A.G., A.N.B.), Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Bogazici University, Istanbul, Turkey; Department of Neurology (G. Kocaman), Medical Faculty, Bezmialem Vakif University, Turkey; Department of Neurology (P.K.-K., K.U.), Faculty of Medicine, Marmara University, Istanbul, Turkey; Department of Neurology (G. Kiziltan), Cerrahpasa Faculty of Medicine, Istanbul University, Turkey; Department of Medical Genetics (A.O.C.), School of Medicine, Istanbul Bilim University, Turkey; Yale Program on Neurogenetics (A.O.C.), Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, CT; Department of Genetics (K.B.), Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT; and Department of Neurology (A.V.), Koc University Hospital, Istanbul, Turkey.

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February 2018

gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA.

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September 2017

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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November 2016

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Am J Hum Genet 2016 Oct 8;99(4):912-916. Epub 2016 Sep 8.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.

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October 2016

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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August 2016

Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.

Pediatrics 2016 04 25;137(4). Epub 2016 Mar 25.

Child Study Center, School of Medicine, Yale University, New Haven, Connecticut; Haskins Laboratories, New Haven, Connecticut; Department of Psychology, Saint Petersburg State University, Saint Petersburg, Russia; Moscow State University for Psychology and Education, Moscow, Russia

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April 2016

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

Neuropediatrics 2015 Dec 19;46(6):420-3. Epub 2015 Oct 19.

Departments of Neurosurgery, Neurobiology and Genetics, School of Medicine, Yale University, New Haven, United States.

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December 2015

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

Eur J Paediatr Neurol 2015 Nov 9;19(6):743-6. Epub 2015 Jul 9.

Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address:

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November 2015

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

Neuro Oncol 2015 Oct 3;17(10):1356-64. Epub 2015 Mar 3.

Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, Connecticut (E.Z.E.-O., A.O.Ç., S.B.O., A.S.H., V.C., G.C.-G., J.B., C.Ç., T.B., S.C., B.B., M.B., J.M.G., K.M.-G., K.B., K.Y., M.G.); Department of Genetics, Yale School of Medicine, New Haven, Connecticut (K.B., M.G.); Computational Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York (N.S., N.W., C.S.); Department of Neurosurgery, Acıbadem University School of Medicine, Istanbul, Turkey (K.O., M.N.P.); Division of Hematology and Oncology, Faculty of Medicine, Department of Pediatrics, Selçuk University, Konya, Turkey (Y.K., D.K.); Department of Pathology, Yale School of Medicine, New Haven, Connecticut (J.L., J.S., A.V., A.J.H.).

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October 2015

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

Eur J Med Genet 2015 Jan 9;58(1):39-43. Epub 2014 Sep 9.

Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA. Electronic address:

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January 2015

A new syndrome of microtia with unilateral renal agenesis and short stature.

Am J Med Genet A 2012 Aug 18;158A(8):1837-40. Epub 2012 Jun 18.

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

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August 2012

Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression.

J Pediatr Neurosci 2010 Jul;5(2):147-9

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

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July 2010

Cytogenetic results of patients with infertility in middle anatolia, Turkey: do heterochromatin polymorphisms affect fertility?

J Reprod Infertil 2010 Oct;11(3):179-81

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

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October 2010

Different aspects of atrial fibrillation genetics.

Interact Cardiovasc Thorac Surg 2010 Dec 9;11(6):779-83. Epub 2010 Aug 9.

Kayseri Education and Research Hospital, Department of Medical Genetics, 38010 Kayseri, Turkey.

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December 2010

Are heterochromatin polymorphisms associated with recurrent miscarriage?

J Obstet Gynaecol Res 2010 Aug;36(4):774-6

Medical Genetics, Kayseri Education and Research Hospital, Erciyes University, Kayseri, Turkey.

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August 2010

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Dev Med Child Neurol 2010 Sep 22;52(9):868-72. Epub 2010 Jun 22.

Department of Pediatric Neurology, Erciyes University Medical Faculty, Kayseri, Turkey.

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September 2010

A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.

J Child Neurol 2010 Aug 8;25(8):1003-5. Epub 2010 Feb 8.

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

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August 2010

MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.

Nephrol Dial Transplant 2010 Aug 23;25(8):2520-3. Epub 2009 Nov 23.

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

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August 2010

Detection of p16 promotor hypermethylation in "Maras powder" and tobacco users.

Cancer Epidemiol 2009 Jul 27;33(1):47-50. Epub 2009 May 27.

Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey.

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July 2009

Frank-ter Haar syndrome with unusual clinical features.

Eur J Med Genet 2009 Jul-Aug;52(4):247-9. Epub 2009 Mar 19.

Erciyes University, Medical Faculty, Department of Medical Genetics, Talas Cad., 38039 Kayseri, Turkey.

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November 2009

Inherited diseases and syndromes leading to aortic aneurysms and dissections.

Eur J Cardiothorac Surg 2009 Jun 23;35(6):931-40. Epub 2009 Feb 23.

Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri 38010, Turkey.

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June 2009

The effect of maras powder on DNA methylation and micronucleus formation in human buccal tissue.

J Toxicol Environ Health A 2008 ;71(6):396-404

Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey.

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February 2008