Dr. Öğr. Üyesi KAYA BİLGÜVAR

Metrikler

Yayın

187

Atıf (WoS)

14884

H-İndeks (WoS)

Atıf (Scopus)

16507

H-İndeks (Scopus)

Atıf (Scholar)

22084

H-İndeks (Scholar)

Proje

Tez Danışmanlığı

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Eğitim Bilgileri

2002 - 2022

Doktora

Marmara Üniversitesi, Sağlık Bilimleri Enstitüsü, Türkiye

1994 - 2000

Lisans

Marmara Üniversitesi, Tıp Fakültesi, Türkiye

Yabancı Diller

C2 Ustalık

İngilizce

A1 Başlangıç

Almanca

C2 Ustalık

Türkçe

Araştırma Alanları

Biyoenformasyon

Genetik Bozuklukların Moleküler Biyolojisi

Genomiks

Kanser Moleküler Biyolojisi

Biyopsikoloji

Populasyon Genetiği

Temel Tıp Bilimleri

Akademik Unvanlar / Görevler

2023 - Devam Ediyor

Dr. Öğr. Üyesi

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

2021 - Devam Ediyor

Doç. Dr.

Yale University, School of Medicine, Genetics

2021 - Devam Ediyor

Doç. Dr.

Yale University, School of Medicine, Neurosurgery

2021 - 2023

Uzman Dr.

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Rektörlüğe Bağlı Bölümler

2020 - 2021

Doç. Dr.

Yale University, School of Medicine, Neurosurgery

2019 - 2021

Doç. Dr.

Yale University, School of Medicine, Genetics

2013 - 2019

Dr. Öğr. Üyesi

Yale University, School of Medicine, Genetics

2007 - 2013

Araştırmacı

Yale University, School of Medicine, Neurosurgery

2004 - 2007

Diğer

Yale University, School of Medicine, Neurosurgery

Yönetimsel Görevler

2024 - Devam Ediyor

Enstitü Müdür Yardımcısı

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Sağlık Bilimleri Enstitüsü

2024 - Devam Ediyor

Etik Kurul Üyesi

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

2023 - Devam Ediyor

Anabilim/Bilim Dalı Başkanı

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Sağlık Bilimleri Enstitüsü, Translasyonel Tıp Doktora Programı

2023 - Devam Ediyor

Anabilim/Bilim Dalı Başkanı

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

2023 - Devam Ediyor

Yönerge Komisyonu Üyesi

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, MD/PhD Program

2021 - Devam Ediyor

Eğitim Komisyonu Üyesi

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Sağlık Bilimleri Enstitüsü, Genom Çalışmaları Ana Bilim Dalı

2021 - Devam Ediyor

Etik Kurul Üyesi

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Rektörlüğe Bağlı Bölümler, ACURARE Rare Diseases and Orphan Drugs Application and Research Center

2021 - Devam Ediyor

Etik Kurul Üyesi

Acıbadem Mehmet Ali Aydınlar Üniversitesi, Rektörlüğe Bağlı Bölümler, ACU Biobank Unit

2016 - 2021

Merkez Müdürü

Yale Üniversitesi, Tıp Fakültesi, Yale Genom Analizi Merkezi

Verdiği Dersler

Doktora

Güncel Konular ve Makale Saati

Gen Avcılığı ve Genom Analizi Araçları

Omics Technologies

Yüksek Lisans

Temel Genom Analiz Araçları

Genomik Tıp

Temel Genetik

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

2025

Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families.

Büyükgöl F., Gürdamar B., Aluçlu M. U., Beckmann Y., Bilguvar K., Boz C., et al.

Scientific reports , cilt.15, sa.1, ss.11682, 2025 (SCI-Expanded)

2025

Effects of essential tremor on longevity and mortality rates in families

ONAT O. E., ÜSTÜNEL F., Akbostanci C., Doganyigit K. E., Sen M., Gunaydin E. C., et al.

PLoS ONE , cilt.20, sa.4 April, 2025 (SCI-Expanded)

2025

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

Sierant M. C., Jin S. C., BİLGÜVAR K., Morton S. U., Dong W., Jiang W., et al.

Proceedings of the National Academy of Sciences of the United States of America , cilt.122, sa.13, 2025 (SCI-Expanded)

2025

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly

Zhang C., Liang D., Ercan-Sencicek A. G., Bulut A. S., Cortes J., Cheng I. Q., et al.

Nature , cilt.638, sa.8049, ss.172-181, 2025 (SCI-Expanded)

2025

Spreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache.

Kaya Z., Belder N., Sever-Bahçekapılı M., Erdener Ş. E., Dönmez-Demir B., Bağcı C., et al.

Brain : a journal of neurology , 2025 (SCI-Expanded)

2024

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Guner Yilmaz B., Akgun-Dogan Ö., Ozdemir Ö., Yuksel B., Hatirnaz Ng Ö., Bilguvar K., et al.

Frontiers in pediatrics , cilt.12, ss.1412880, 2024 (SCI-Expanded)

2024

Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease

Mishra-Gorur K., Barak T., Kaulen L. D., Henegariu O., Jin S. C., Aguilera S. M., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.121, sa.12, 2024 (SCI-Expanded)

2024

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.

BRAIN , cilt.147, sa.1, ss.311-324, 2024 (SCI-Expanded)

2023

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas

Youngblood M. W., Erson-Omay Z., Li C., Najem H., Coskun S., Tyrtova E., et al.

NATURE COMMUNICATIONS , cilt.14, sa.1, 2023 (SCI-Expanded)

2023

Toward Precision Oncology in Glioblastoma with a Personalized Cancer Genome Reporting Tool and Genetic Changes Identified by Whole Exome Sequencing

Erdogan O., Ozkaya S. C., ERZİK C., Bilguvar K., ARGA K. Y., Bayrakli F.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY , cilt.27, sa.9, ss.426-433, 2023 (SCI-Expanded)

2023

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes

Tuysuz B., ULUDAĞ ALKAYA D., Geyik F., ALAYLIOĞLU M., Kasap B., KURUĞOĞLU S., et al.

JOURNAL OF MEDICAL GENETICS , cilt.60, sa.8, ss.819-826, 2023 (SCI-Expanded)

2023

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

Mishra-Gorur K., Barak T., Kaulen L. D., Henegariu O., Jin S. C., Aguilera S. M., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.120, sa.16, 2023 (SCI-Expanded)

2023

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

Lee D., Le Pen J., Yatim A., Dong B., Aquino Y., Ogishi M., et al.

SCIENCE , cilt.379, sa.6632, ss.554-574, 2023 (SCI-Expanded)

2023

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

Hwang J. Y., Chai P., Nawaz S., Choi J., Lopez-Giraldez F., Hussain S., et al.

ELIFE , cilt.12, 2023 (SCI-Expanded)

2022

Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota

Petrone M. E., Rothman J. E., Breban M., Ott I. M., Russell A., Lasek-Nesselquist E., et al.

COMMUNICATIONS BIOLOGY , cilt.5, sa.1, 2022 (SCI-Expanded)

2022

Application of multiplex amplicon deep-sequencing (MAD-seq) to screen for putative drug resistance markers in the Necator americanus isotype-1 β-tubulin gene

George S., Suwondo P., Akorli J., Otchere J., Harrison L. M., Bilguvar K., et al.

SCIENTIFIC REPORTS , cilt.12, sa.1, 2022 (SCI-Expanded)

2022

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome

ÇAĞLAYAN A. O., Tuysuz B., Gul E., ULUDAĞ ALKAYA D., Yalcinkaya C., Gleeson J. G., et al.

JOURNAL OF HUMAN GENETICS , cilt.67, sa.9, ss.553-556, 2022 (SCI-Expanded)

2022

Mutation spectrum of congenital heart disease in a consanguineous Turkish population

Dong W., Kaymakcalan H., Jin S. C., Diab N. S., Tanidir C., Yalcin A. S. Y., et al.

MOLECULAR GENETICS & GENOMIC MEDICINE , cilt.10, sa.6, 2022 (SCI-Expanded)

2022

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Manry J., Bastard P., Gervais A., Le Voyer T., Rosain J., Philippot Q., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.119, sa.21, 2022 (SCI-Expanded)

2022

Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified

KARAKAYA C., Cil A. P., Bilguvar K., Cakir T., Karalok M. H., KARABACAK R. O., et al.

JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH , cilt.48, sa.5, ss.1202-1211, 2022 (SCI-Expanded)

2022

Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA

Earnest R., Uddin R., Matluk N., Renzette N., Turbett S. E., Siddle K. J., et al.

CELL REPORTS MEDICINE , cilt.3, sa.4, 2022 (SCI-Expanded)

2022

D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

Werner K. M., Cox A. J., Qian E., Jain P., Ji W., Tikhonova I., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.1, ss.357-363, 2022 (SCI-Expanded)

2021

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Calame D. G., Bakhtiari S., Logan R., Coban-Akdemir Z., Du H., Mitani T., et al.

GENETICS IN MEDICINE , cilt.23, sa.12, ss.2455-2460, 2021 (SCI-Expanded)

2021

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

Barak T., Ristori E., Ercan-Sencicek A. G., Miyagishima D. F., Nelson-Williams C., Dong W., et al.

NATURE MEDICINE , cilt.27, sa.12, ss.2165-2175, 2021 (SCI-Expanded)

2021

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Richard E. M., Bakhtiari S., Marsh A. P. L., Kaiyrzhanov R., Wagner M., Shetty S., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.108, sa.10, ss.2006-2016, 2021 (SCI-Expanded)

2021

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Wiessner M., Maroofian R., Ni M., Pedroni A., Müller J. S., Stucka R., et al.

Brain : a journal of neurology , cilt.144, sa.8, 2021 (SCI-Expanded)

2021

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

Kars M. E., Basak A. N., Onat O. E., Bilguvar K., Choi J., Itan Y., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.118, sa.36, 2021 (SCI-Expanded)

2021

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

Lewis S. A., Bakhtiari S., Heim J., Cornejo P., Liu J., Huang A., et al.

NEUROLOGY-GENETICS , cilt.7, sa.4, 2021 (SCI-Expanded)

2021

X-linked recessive TLR7 deficiency in ∼1% of men under 60 years old with life-threatening COVID-19

Asano T., Boisson B., Onodi F., Matuozzo D., Moncada-Velez M., Renkilaraj M. R. L. M., et al.

SCIENCE IMMUNOLOGY , cilt.6, sa.62, 2021 (SCI-Expanded)

2021

Autoantibodies neutralizing type I IFNs are present in ∼4% of uninfected individuals over 70 years old and account for ∼20% of COVID-19 deaths

Bastard P., Gervais A., Le Voyer T., Rosain J., Philippot Q., Manry J., et al.

SCIENCE IMMUNOLOGY , cilt.6, sa.62, 2021 (SCI-Expanded)

2021

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Alsharhan H., He M., Edmondson A. C., Daniel E. J. P., Chen J., Donald T., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , sa.4, ss.1001-1012, 2021 (SCI-Expanded)

2021

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl

ULUDAĞ ALKAYA D., Akpinar E., Bilguvar K., Tuysuz B.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.7, ss.2271-2277, 2021 (SCI-Expanded)

2021

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

Bakhtiari S., Tafakhori A., Jin S. C., Guida B. S., Alehabib E., Firouzbadi S., et al.

NEUROLOGY-GENETICS , cilt.7, sa.3, 2021 (SCI-Expanded)

2021

Associations of meningioma molecular subgroup and tumor recurrence.

Youngblood M. W., Miyagishima D. F., Jin L., Gupte T., Li C., Duran D., et al.

Neuro-oncology , cilt.23, sa.5, ss.783-794, 2021 (SCI-Expanded)

2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Wiessner M., Maroofian R., Ni M., Pedroni A., Muller J. S., Stucka R., et al.

BRAIN , cilt.144, ss.1422-1434, 2021 (SCI-Expanded)

2021

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

Hwang J. Y., Nawaz S., Choi J., Wang H., Hussain S., Nawaz M., et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY , cilt.9, 2021 (SCI-Expanded)

2021

Integrated mutational landscape analysis of uterine leiomyosarcomas

Choi J., Manzano A., Dong W., Bellone S., Bonazzoli E., Zammataro L., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.118, sa.15, 2021 (SCI-Expanded)

2021

METAP1mutation is a novel candidate for autosomal recessive intellectual disability

ÇAĞLAYAN A. O., Aktar F., Bilguvar K., Baranoski J. F., Akgumus G. T., Harmanci A. S., et al.

JOURNAL OF HUMAN GENETICS , cilt.66, sa.2, ss.215-218, 2021 (SCI-Expanded)

2021

Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma

Ülgen E., Can Ö., Bilguvar K., Akyerli Boylu C., Kılıçturgay Yüksel Ş., Erşen Danyeli A., et al.

BMC MEDICAL GENOMICS , cilt.14, sa.1, 2021 (SCI-Expanded)

2021

A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant

Meric R., Ercan-Sencicek A. G., ULUDAĞ ALKAYA D., Sahin Y., Sar M., Bilguvar K., et al.

CLINICAL DYSMORPHOLOGY , cilt.30, sa.1, ss.54-57, 2021 (SCI-Expanded)

2021

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Dyment D. A., O'Donnell-Luria A., Agrawal P. B., Coban Akdemir Z., Aleck K. A., Antaki D., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.1, ss.119-133, 2021 (SCI-Expanded)

2021

Neuroinvasion of SARS-CoV-2 in human and mouse brain

Song E., Zhang C., Israelow B., Lu-Culligan A., Prado A. V., Skriabine S., et al.

JOURNAL OF EXPERIMENTAL MEDICINE , cilt.218, sa.3, 2021 (SCI-Expanded)

2020

Mutation spectrum of congenital heart disease in 73consanguineous Turkish families

Dong W., Kaymakcalan H., Diab N., Jin S. C., Tanidir C., Yalcin A., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , sa.SUPPL 1, ss.263-264, 2020 (SCI-Expanded)

2020

Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus

Panchagnula S., Jin S. C., Dong W., Kundishora A., Moreno-De-Luca A., Furey C. G., et al.

NEUROSURGERY , ss.195, 2020 (SCI-Expanded)

2020

Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms

Ulgen E., Karacan S., Gerlevik U., CAN Ö., Bilguvar K., OKTAY Y., et al.

BIOMEDICINES , cilt.8, sa.12, 2020 (SCI-Expanded)

2020

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Jin S. C., Dong W., Kundishora A. J., Panchagnula S., Moreno-De-Luca A., Furey C. G., et al.

NATURE MEDICINE , cilt.26, sa.11, ss.1754-1765, 2020 (SCI-Expanded)

2020

Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas

Youngblood M. W., Duran D., Montejo J. D., Li C., Omay S. B., ÖZDUMAN K., et al.

JOURNAL OF NEUROSURGERY , cilt.133, sa.5, ss.1345-1354, 2020 (SCI-Expanded)

2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang Q., Bastard P., Liu Z., Le Pen J., Moncada-Velez M., Chen J., et al.

SCIENCE , cilt.370, sa.6515, 2020 (SCI-Expanded)

2020

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard P., Rosen L. B., Zhang Q., Michailidis E., Hoffmann H., Zhang Y., et al.

SCIENCE , cilt.370, sa.6515, ss.423-435, 2020 (SCI-Expanded)

2020

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Jin S. C., Lewis S. A., Bakhtiari S., Zeng X., Sierant M. C., Shetty S., et al.

NATURE GENETICS , cilt.52, sa.10, ss.1046-1056, 2020 (SCI-Expanded)

2020

Human CRY1 variants associate with attention deficit/hyperactivity disorder

Onat O. E., Kars M. E., GÜL Ş., Bilguvar K., Wu Y., Ozhan A., et al.

JOURNAL OF CLINICAL INVESTIGATION , cilt.130, sa.7, ss.3885-3900, 2020 (SCI-Expanded)

2020

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Chatron N., Becker F., Morsy H., Schmidts M., Hardies K., Tuysuz B., et al.

BRAIN , cilt.143, ss.1447-1461, 2020 (SCI-Expanded)

2020

Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas

Ulgen E., CAN Ö., Bilguvar K., OKTAY Y., AKYERLİ BOYLU C., Danyeli A., et al.

JOURNAL OF NEUROSURGERY , cilt.132, sa.5, ss.1435-1446, 2020 (SCI-Expanded)

2019

Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing

Dong W., Baldwin C., Choi J., Milunsky J. M., Zhang J., Bilguvar K., et al.

CLINICAL GENETICS , cilt.96, sa.5, ss.473-477, 2019 (SCI-Expanded)

2019

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Duran D., Zeng X., Jin S. C., Choi J., Nelson-Williams C., Yatsula B., et al.

NEURON , cilt.101, sa.3, ss.429-447, 2019 (SCI-Expanded)

2019

Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy

Zammataro L., Lopez S., Bellone S., Pettinella F., Bonazzoli E., Perrone E., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.116, sa.45, ss.22730-22736, 2019 (SCI-Expanded)

2018

Clonal evolution analysis of paired anaplastic and well-differentiated thyroid carcinomas reveals shared common ancestor

Dong W., Nicolson N. G., Choi J., Barbieri A. L., Kunstman J. W., Abou Azar S., et al.

GENES CHROMOSOMES & CANCER , cilt.57, sa.12, ss.645-652, 2018 (SCI-Expanded)

2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Helbig K. L., Lauerer R. J., Bahr J. C., Souza I. A., Myers C. T., Uysal B., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.103, sa.5, ss.666-678, 2018 (SCI-Expanded)

2018

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome

Guemez-Gamboa A., ÇAĞLAYAN A. O., Stanley V., Gregor A., Zaki M. S., Saleem S. N., et al.

ANNALS OF NEUROLOGY , cilt.84, sa.5, ss.638-647, 2018 (SCI-Expanded)

2018

Meningioma With Multiple Drivers: Genomic Landscape and Clinical Correlations

Tyrtova E., Li C., Youngblood M., Duran D., Montejo J. D., Coskun S., et al.

NEUROSURGERY , ss.94, 2018 (SCI-Expanded)

2018

Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Schaffer A. E., Breuss M. W., Caglayan A. O., Al-Sanaa N., Al-Abdulwahed H. Y., Kaymakcalan H., et al.

NATURE GENETICS , cilt.50, sa.8, ss.1093-1107, 2018 (SCI-Expanded)

2018

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Furey C. G., Choi J., Jin S. C., Zeng X., Timberlake A. T., Nelson-Williams C., et al.

NEURON , cilt.99, sa.2, ss.302-318, 2018 (SCI-Expanded)

2018

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı A. S., Youngblood M. W., Clark V. E., Coşkun S., Henegariu O., Duran D., et al.

Nature communications , cilt.9, ss.16215, 2018 (SCI-Expanded)

2018

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

Yilmaz S., ULUDAĞ ALKAYA D., KASAPÇOPUR Ö., BARUT K., Akdemir E. S., Celen C., et al.

MOLECULAR GENETICS & GENOMIC MEDICINE , cilt.6, sa.2, ss.230-248, 2018 (SCI-Expanded)

2018

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

Kocoglu C., Gundogdu A., Kocaman G., Kahraman-Koytak P., Uluc K., KIZILTAN G., et al.

NEUROLOGY-GENETICS , cilt.4, sa.1, 2018 (SCI-Expanded)

2017

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Jin S. C., Homsy J., Zaidi S., Lu Q., Morton S., DePalma S. R., et al.

NATURE GENETICS , cilt.49, sa.11, ss.1593-1601, 2017 (SCI-Expanded)

2017

AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma

Chow R. D., Guzman C. D., Wang G., Schmidt F., Youngblood M. W., Ye L., et al.

NATURE NEUROSCIENCE , cilt.20, sa.10, ss.1329-1341, 2017 (SCI-Expanded)

2017

GABBR2 Mutations Determine Phenotype in Rett Syndrome and Epileptic Encephalopathy

Yoo Y., Jung J., Lee Y., Lee Y., Cho H., Na E., et al.

ANNALS OF NEUROLOGY , cilt.82, sa.3, ss.466-478, 2017 (SCI-Expanded)

2017

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing

Yilmaz B., Toktas Z. O., Akakin A., Isik S., Bilguvar K., Kilic T., et al.

JOURNAL OF NEUROSURGERY , cilt.126, sa.6, ss.1879-1883, 2017 (SCI-Expanded)

2017

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli R. M., Schaffer A. E., Eggens V. R. C., Zaki M. S., Grainger S., Sathe S., et al.

NATURE GENETICS , cilt.49, sa.3, ss.457-464, 2017 (SCI-Expanded)

2017

Integrated genomic analyses of de novo pathways underlying atypical meningiomas

Harmanci A. S., Youngblood M. W., Clark V. E., Coskun S., Henegariu O., Duran D., et al.

NATURE COMMUNICATIONS , cilt.8, 2017 (SCI-Expanded)

2017

Longitudinal analysis of treatment-induced genomic alterations in gliomas

Erson-Omay E. Z., Henegariu O., Omay S. B., Harmanci A. S., Youngblood M. W., Mishra-Gorur K., et al.

GENOME MEDICINE , cilt.9, 2017 (SCI-Expanded)

2016

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Tarlungeanu D. C., Deliu E., Dotter C. P., Kara M., Janiesch P. C., Scalise M., et al.

CELL , cilt.167, sa.6, ss.1481-1512, 2016 (SCI-Expanded)

2016

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

Jerber J., Zaki M. S., Al-Aama J. Y., Rosti R. O., Ben-Omran T., Dikoglu E., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.99, sa.5, ss.1181-1189, 2016 (SCI-Expanded)

2016

Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition

Zhao S., Bellone S., Lopez S., Thakral D., Schwab C., English D. P., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.113, sa.43, ss.12238-12243, 2016 (SCI-Expanded)

2016

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

Vilarinho S., SARI S., Mazzacuva F., Bilguvar K., Esendagli-Yilmaz G., Jain D., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.113, sa.40, ss.11289-11293, 2016 (SCI-Expanded)

2016

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas

Clarke V. E., Harmanci A. S., Bai H., Youngblood M. W., Lee T. I., Baranoski J. F., et al.

NATURE GENETICS , cilt.48, sa.10, ss.1253-1259, 2016 (SCI-Expanded)

2016

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

Timberlake A. T., Choi J., Zaidi S., Lu Q., Nelson-Williams C., Brooks E. D., et al.

ELIFE , cilt.5, 2016 (SCI-Expanded)

2016

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

Li H., Bielas S. L., Zaki M. S., Ismail S., Farfara D., Um K., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.99, sa.2, ss.501-510, 2016 (SCI-Expanded)

2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Madeo M., Stewart M., Sun Y., Sahir N., Wiethoff S., Chandrasekar I., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.98, sa.6, ss.1249-1255, 2016 (SCI-Expanded)

2016

Overlapping 16p13.11 Deletion and Gain of Copies Variations Associated with Childhood Onset Psychosis Include Genes with Mechanistic Implications for Autism Associated Pathways: Two Case Reports

Brownstein C. A., Kleiman R. J., Engle E. C., Towne M. C., D'Angelo E. J., Yu T. W., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.170, sa.5, ss.1165-1173, 2016 (SCI-Expanded)

2016

Renal Involvement in Patients with Mucolipidosis IIIAlpha/Beta: Causal Relation or Co-Occurrence?

Tuysuz B., Ercan-Sencicek A. G., CANPOLAT N., Koparir A., Yilmaz S., KILIÇASLAN I., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.170, sa.5, ss.1187-1195, 2016 (SCI-Expanded)

2016

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

ÇAĞLAYAN A. O., Tuysuz B., Coskun S., Quon J., Harmanci A. S., Baranoski J. F., et al.

JOURNAL OF HUMAN GENETICS , cilt.61, sa.5, ss.395-403, 2016 (SCI-Expanded)

2016

Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

Bilguvar K., Goh G., Korah R., Lifton R. P., Carling T.

CLINICAL ENDOCRINOLOGY , cilt.84, sa.4, ss.632-634, 2016 (SCI-Expanded)

2016

Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma

Bi M., Zhao S., Said J. W., Merino M. J., Adeniran A. J., Xie Z., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.113, sa.8, ss.2170-2175, 2016 (SCI-Expanded)

2016

Integrated genomic characterization of IDH1-mutant glioma malignant progression

Bai H., Harmanci A. S., Erson-Omay E. Z., Li J., Coskun S., Simon M., et al.

NATURE GENETICS , cilt.48, sa.1, ss.59-69, 2016 (SCI-Expanded)

2015

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Homsy J., Zaidi S., Shen Y., Ware J. S., Samocha K. E., Karczewski K. J., et al.

SCIENCE , cilt.350, sa.6265, ss.1262-1266, 2015 (SCI-Expanded)

2015

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

PER H., CANPOLAT M., Bayram A. K., Ulgen E., BARAN B., KARDAŞ F., et al.

NEUROPEDIATRICS , cilt.46, sa.6, ss.420-423, 2015 (SCI-Expanded)

2015

Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum

Levinsohn J. L., Sugarman J. L., Bilguvar K., McNiff J. M., Choate K. A.

JOURNAL OF INVESTIGATIVE DERMATOLOGY , cilt.135, sa.10, ss.2536-2538, 2015 (SCI-Expanded)

2015

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

Erson-Omay E. Z., Caglayan A. O., Schultz N., Weinhold N., Omay S. B., ÖZDUMAN K., et al.

NEURO-ONCOLOGY , cilt.17, sa.10, ss.1356-1364, 2015 (SCI-Expanded)

2015

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

Juhlin C. C., Stenman A., Haglund F., Clark V. E., Brown T. C., Baranoski J., et al.

GENES CHROMOSOMES & CANCER , cilt.54, sa.9, ss.542-554, 2015 (SCI-Expanded)

2015

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong J. X., Buckingham K. J., Jhangiani S. N., Boehm C., Sobreira N., Smith J. D., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.97, sa.2, ss.199-215, 2015 (SCI-Expanded)

2015

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

Stuart B. D., Choi J., Zaidi S., Xing C., Holohan B., Chen R., et al.

NATURE GENETICS , cilt.47, sa.5, ss.512-517, 2015 (SCI-Expanded)

2015

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation

Tuysuz B., Yilmaz S., Erener-Ercan T., Bilguvar K., Gunel M.

PEDIATRIC RADIOLOGY , cilt.45, sa.5, ss.771-776, 2015 (SCI-Expanded)

2015

Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development

Nishimura S., Bilguevar K., Ishigame K., Sestan N., Guenel M., Louvi A.

PLOS ONE , cilt.10, sa.4, 2015 (SCI-Expanded)

2015

The distinct genetic pattern of ALS in Turkey and novel mutations

Ozoguz A., Uyan O., Birdal G., Iskender C., Kartal E., Lahut S., et al.

NEUROBIOLOGY OF AGING , cilt.36, sa.4, 2015 (SCI-Expanded)

2015

Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans

Han J., Calvo C., Kang T. H., Baker K. L., Park J., Parras C., et al.

CELL REPORTS , cilt.10, sa.7, ss.1158-1172, 2015 (SCI-Expanded)

2015

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Ercan-Sencicek A. G., Jambi S., Franjic D., Nishimura S., Li M., El-Fishawy P., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.23, sa.2, ss.165-172, 2015 (SCI-Expanded)

2015

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia

Boyden L. M., Craiglow B. G., Zhou J., Hu R., Loring E. C., Morel K. D., et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY , cilt.135, sa.6, ss.1540-1547, 2015 (SCI-Expanded)

2015

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

ÇAĞLAYAN A. O., Comu S., Baranoski J. F., Parman Y., Kaymakcalan H., Akgumus G. T., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.58, sa.1, ss.39-43, 2015 (SCI-Expanded)

2015

A rare case of congenital fibrosis of extraocular muscle type IA due to KIF2IA mutation with Marcus Gunn jaw-winking phenomenon

Bayram A. K., PER H., Quon J., CANPOLAT M., Uelgen E., Dogan H., et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.19, sa.6, ss.743-746, 2015 (SCI-Expanded)

2014

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Mishra-Gorur K., ÇAĞLAYAN A. O., Schaffer A. E., Chabu C., Henegariu O., Vonhoff F., et al.

NEURON , cilt.84, sa.6, ss.1226-1239, 2014 (SCI-Expanded)

2014

Brain Malformations Associated With Knobloch Syndrome-Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations

ÇAĞLAYAN A. O., Baranoski J. E., Aktar F., Han W., Tuysuz B., Guzel A., et al.

PEDIATRIC NEUROLOGY , cilt.51, sa.6, ss.806-813, 2014 (SCI-Expanded)

2014

FBX07-R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family

GÜNDÜZ A., Eken A. G., BİLGİÇ B., HANAĞASI H. A., Bilguvar K., Guenel M., et al.

PARKINSONISM & RELATED DISORDERS , cilt.20, sa.11, ss.1253-1256, 2014 (SCI-Expanded)

2014

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up

Tuysuz B., Yilmaz S., KASAPÇOPUR Ö., Erener-Ercan T., Ceyhun E., Bilguvar K., et al.

RHEUMATOLOGY INTERNATIONAL , cilt.34, sa.11, ss.1539-1544, 2014 (SCI-Expanded)

2014

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Schaffer A. E., Eggens V. R. C., ÇAĞLAYAN A. O., Reuter M. S., Scott E., Coufal N. G., et al.

CELL , cilt.157, sa.3, ss.651-663, 2014 (SCI-Expanded)

2014

Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk

Zito G., Saotome I., Liu Z., Ferro E. G., Sun T. Y., Nguyen D. X., et al.

NATURE COMMUNICATIONS , cilt.5, 2014 (SCI-Expanded)

2014

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations

Vilarinho S., Erson-Omay E. Z., Harmanci A. S., Morotti R., Carrion-Grant G., Baranoski J., et al.

JOURNAL OF HEPATOLOGY , cilt.61, sa.5, ss.1178-1183, 2014 (SCI-Expanded)

2014

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino G., Fenstermaker A. G., Zaki M. S., Hofree M., Silhavy J. L., Heiberg A. D., et al.

SCIENCE , cilt.343, sa.6170, ss.506-511, 2014 (SCI-Expanded)

2014

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features

Tuysuz B., Bilguvar K., Kocer N., YALÇINKAYA C., ÇAĞLAYAN A. O., Gul E., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.7, ss.1677-1685, 2014 (SCI-Expanded)

2013

A new patient with andermann syndrome: An underdiagnosed clinical genetics entity?

Degerliyurt A., Akgumus G., Caglar C., Bilguvar K., Caglayan A.

Genetic Counseling , cilt.24, sa.3, ss.283-289, 2013 (SCI-Expanded)

2013

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum

ÇAĞLAYAN A. O., PER H., Akgumus G., GÜMÜŞ H., Baranoski J., CANPOLAT M., et al.

CLINICAL GENETICS , cilt.84, sa.4, ss.394-395, 2013 (SCI-Expanded)

2013

FBXO7 mutation: Phenotypic variability from chorea to early-onset asymmetric parkinsonism within a family

GÜNDÜZ A., Eken A. G., Bilguvar K., KEREM GÜNEL M., Basak A. N., HANAĞASI H. A., et al.

MOVEMENT DISORDERS , 2013 (SCI-Expanded)

2013

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Radmanesh F., ÇAĞLAYAN A. O., Silhavy J. L., Yilmaz C., Cantagrel V., Omar T., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.92, sa.3, ss.468-474, 2013 (SCI-Expanded)

2013

Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Clark V. E., Erson-Omay E. Z., Serin A., Yin J., Cotney J., ÖZDUMAN K., et al.

SCIENCE , cilt.339, sa.6123, ss.1077-1080, 2013 (SCI-Expanded)

2013

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

Onat O. E., Gulsuner S., Bilguvar K., Basak A. N., Topaloglu H., Tan M., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.21, sa.3, ss.281-285, 2013 (SCI-Expanded)

2013

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

Bilguvar K., Tyagi N. K., ÖZKARA Ç., Tuysuz B., Bakircioglu M., Choi M., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.110, sa.9, ss.3489-3494, 2013 (SCI-Expanded)

2013

Spondyloepimetaphyseal Dysplasia Pakistani Type: Expansion of the Phenotype

Tuysuz B., Yilmaz S., Gul E., Kolb L., Bilguvar K., EVLİYAOĞLU S. O., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.161, sa.6, ss.1300-1308, 2013 (SCI-Expanded)

2012

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders S. J., Murtha M. T., Gupta A. R., Murdoch J. D., Raubeson M. J., Willsey A. J., et al.

NATURE , cilt.485, sa.7397, ss.237-241, 2012 (SCI-Expanded)

2012

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

Fernandez T. V., Sanders S. J., Yurkiewicz I. R., Ercan-Sencicek A. G., Kim Y., Fishman D. O., et al.

BIOLOGICAL PSYCHIATRY , cilt.71, sa.5, ss.392-402, 2012 (SCI-Expanded)

2011

Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk

Yasuno K., Bakircioglu M., Low S., Bilguevar K., Gaal E., Ruigrok Y. M., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.108, sa.49, ss.19707-19712, 2011 (SCI-Expanded)

2011

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

Gulsuner S., Tekinay A. B., Doerschner K., Boyaci H., Bilguvar K., Unal H., et al.

GENOME RESEARCH , cilt.21, sa.12, ss.1995-2003, 2011 (SCI-Expanded)

2011

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Sanders S. J., Ercan-Sencicek A. G., Hus V., Luo R., Murtha M. T., Moreno-De-Luca D., et al.

NEURON , cilt.70, sa.5, ss.863-885, 2011 (SCI-Expanded)

2011

Recessive LAMC3 mutations cause malformations of occipital cortical development

Barak T., Kwan K. Y., Louvi A., Demirbilek V., SAYGI S., Tuysuz B., et al.

NATURE GENETICS , cilt.43, sa.6, ss.590-596, 2011 (SCI-Expanded)

2011

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Bakircioglu M., Carvalho O. P., Khurshid M., Cox J. J., Tuysuz B., Barak T., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.88, sa.5, ss.523-535, 2011 (SCI-Expanded)

2010

Four Novel SCN1A Mutations in Turkish Patients With Severe Myoclonic Epilepsy of Infancy (SMEI)

Arlier Z., Bayri Y., Kolb L. E., Erturk O., Ozturk A. K., Bayrakli F., et al.

JOURNAL OF CHILD NEUROLOGY , cilt.25, sa.10, ss.1265-1268, 2010 (SCI-Expanded)

2010

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilguvar K., Ozturk A. K., Louvi A., Kwan K. Y., Choi M., Tatli B., et al.

NATURE , cilt.467, sa.7312, ss.207-211, 2010 (SCI-Expanded)

2010

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Kolb L. E., Arlier Z., YALÇINKAYA C., Ozturk A. K., Moliterno J. A., Erturk O., et al.

NEUROGENETICS , cilt.11, sa.3, ss.319-325, 2010 (SCI-Expanded)

2010

L-Histidine Decarboxylase and Tourette's Syndrome

Ercan-Sencicek A. G., Stillman A. A., Ghosh A. K., Bilguvar K., O'Roak B. J., Mason C. E., et al.

NEW ENGLAND JOURNAL OF MEDICINE , cilt.362, sa.20, ss.1901-1908, 2010 (SCI-Expanded)

2010

Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome

Bayrakli F., Bilguvar K., Ceyhan D., Ercan-Sencicek A. G., ÇANKAYA T., Bayrakli S., et al.

CLINICAL GENETICS , cilt.77, sa.5, ss.499-502, 2010 (SCI-Expanded)

2010

Genome-wide association study of intracranial aneurysm identifies three new risk loci

Yasuno K., Bilguvar K., Bijlenga P., Low S., Krischek B., Auburger G., et al.

NATURE GENETICS , cilt.42, sa.5, ss.420-425, 2010 (SCI-Expanded)

2010

A Patient With Duchenne Muscular Dystrophy and Autism Demonstrates a Hemizygous Deletion Affecting Dystrophin

Erturk O., Bilguvar K., KORKMAZ M. B., Bayri Y., Bayrakli F., Arlier Z., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.152, sa.4, ss.1039-1042, 2010 (SCI-Expanded)

2009

A novel heterozygous deletion within the 3′ region of the PAX6 gene causing isolated aniridia in a large family group

Bayrakli F., GÜNEY A. İ., Bayri Y., Ercan-Sencicek A. G., Ceyhan D., ÇANKAYA T., et al.

JOURNAL OF CLINICAL NEUROSCIENCE , cilt.16, sa.12, ss.1610-1614, 2009 (SCI-Expanded)

2009

The Syndrome of Pachygyria, Mental Retardation, and Arachnoid Cysts Maps to 11p15

Bilguvar K., Ozturk A. K., Bayrakli F., Guzel A., DiLuna M. L., Bayri Y., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.149, sa.11, ss.2569-2572, 2009 (SCI-Expanded)

2009

COL4A1 Mutation in Preterm Intraventricular Hemorrhage

Bilguvar K., DiLuna M. L., Bizzarro M. J., Bayri Y., Schneider K. C., Lifton R. P., et al.

JOURNAL OF PEDIATRICS , cilt.155, sa.5, ss.743-745, 2009 (SCI-Expanded)

2008

Susceptibility loci for intracranial aneurysm in European and Japanese populations

Bilguvar K., Yasuno K., Niemela M., Ruigrok Y. M., Fraunberg M. v. u. z., van Duijn C. M., et al.

NATURE GENETICS , cilt.40, sa.12, ss.1472-1477, 2008 (SCI-Expanded)

2008

Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury

Akdemir O., Ucankale M., Karaoglan A., Barut S., Sagmanligil A., Bilguvar K., et al.

JOURNAL OF CLINICAL NEUROSCIENCE , cilt.15, sa.10, ss.1130-1136, 2008 (SCI-Expanded)

2008

Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats

Karaoglan A., KAYA E., Akdemir O., Sagmanligil A., Bilguvar K., Cirakoglu B., et al.

SURGICAL NEUROLOGY , cilt.69, sa.6, ss.561-567, 2008 (SCI-Expanded)

2008

Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury

Akdemir O., Berksoy I., Karaoglan A., Barut S., Bilguvar K., Cirakoglu B., et al.

JOURNAL OF CLINICAL NEUROSCIENCE , cilt.15, sa.6, ss.672-678, 2008 (SCI-Expanded)

2008

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV:: demonstration of a founder mutation in the Turkish population

Tuysuz B., Bayrakli F., DiLuna M. L., Bilguvar K., Bayri Y., YALÇINKAYA C., et al.

NEUROGENETICS , cilt.9, sa.2, ss.119-125, 2008 (SCI-Expanded)

2007

A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly

Bilguvar K., Bydon M., Bayrakli F., Ercan-Sencicek A. G., Bayri Y., Mason C., et al.

JOURNAL OF NEUROSURGERY , cilt.107, sa.6, ss.495-499, 2007 (SCI-Expanded)

2007

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals

Bayrakli F., Bilguvar K., Mason C. E., DiLuna M. L., Bayri Y., Gungor L., et al.

HUMAN MUTATION , cilt.28, sa.12, ss.1236-1240, 2007 (SCI-Expanded)

2007

Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts

Guzel A., Tatli M., Bilguvar K., DiLuna M. L., Bakkaloglu B., Ozturk A. K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.143A, sa.7, ss.672-677, 2007 (SCI-Expanded)

2007

Genetics of intracranial aneurysms

Nahed B. V., Bydon M., Ozturk A. K., Bilguvar K., Bayrakli F., Gunel M.

NEUROSURGERY , cilt.60, sa.2, ss.213-225, 2007 (SCI-Expanded)

2006

Controversial molecular classification of human cerebrovascular malformations - Response to letter by Stahl and Felbor

Bilguvar K., Ozturk A. K., Gunel M., Guclu B.

STROKE , cilt.37, sa.9, ss.2215-2216, 2006 (SCI-Expanded)

2006

Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31

Ozturk A., Nahed B., Bydon M., Bilguvar K., Goksu E., Bademci G., et al.

STROKE , cilt.37, sa.4, ss.1021-1027, 2006 (SCI-Expanded)

2005

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3

Guclu B., Ozturk A., Pricola K., Bilguvar K., Shin D., O'Roak B., et al.

NEUROSURGERY , cilt.57, sa.5, ss.1008-1012, 2005 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

2025

A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization.

Koroglu M. N., Bilguvar K.

Methods in molecular biology (Clifton, N.J.) , cilt.2889, ss.207-233, 2025 (Scopus)

2022

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM

Tuysuz B., Ercan-Sencicek A. G., Ozer E., Goc N., Yalcinkaya C., Bilguvar K.

TURKISH ARCHIVES OF PEDIATRICS , cilt.57, sa.5, ss.521-525, 2022 (ESCI)

2021

Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 lineages.

Petrone M. E., Rothman J. E., Breban M. I., Ott I. M., Russell A., Lasek-Nesselquist E., et al.

medRxiv : the preprint server for health sciences , 2021 (Hakemli Dergi)

2017

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features

ÇAĞLAYAN A. O., Sezer R. G., Kaymakcalan H., Ulgen E., Yavuz T., Baranoski J. F., et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES , cilt.3, sa.5, 2017 (ESCI)

2016

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari i malformation

Duran D., Jin S. C., Despenza T., Nelson-Williams C., Cogal A. G., Abrash E. W., et al.

Human Genome Variation , cilt.3, 2016 (Scopus)

2016

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Smedemark-Margulies N., Brownstein C. A., Vargas S., Tembulkar S. K., Towne M. C., Shi J., et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES , sa.5, 2016 (ESCI)

2015

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

Salih M. A., Seidahmed M. Z., El Khashab H. Y., Hamad M. H. A., Bosley T. M., Burn S., et al.

TREMOR AND OTHER HYPERKINETIC MOVEMENTS , 2015 (ESCI)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler

2025

A Spatial Molecular Analysis of The Sarcomatous Component in Gliosarcomas

Hüseyinoğlu Z., İnan M. A., Toprak U., Pir M. S., Bilgüvar K., Baykal A. T., et al.

25th American Association of Neurological Surgeons Annual Scientific Meeting, Massachusetts, Amerika Birleşik Devletleri, 25 - 28 Nisan 2025, (Özet Bildiri)

2023

Human Cerebral Organoids with PIDD1 Mutations Implicate AKT-mTOR Pathway Hypoactivity in Lissencephaly

Zhang C., Liang D., Lam T., Narayanan A., Gunel M., Bilguvar K., et al.

148th Annual Meeting American-Neurological-Association (ANA), Pennsylvania, Amerika Birleşik Devletleri, 9 - 12 Eylül 2023, (Özet Bildiri)

2021

COMPARATIVE PHYLODYNAMICS OF SARS-COV-2 VARIANTS IN THE NORTHEAST UNITED STATES

Petrone M., Breban M., Ott I., Alpert T., Earnest R., Watkins A., et al.

Annual Meeting of the American-Society-of-Tropical-Medicine-and-Hygiene (ASTMH), ELECTR NETWORK, 17 - 21 Kasım 2021, ss.151-152, (Özet Bildiri)

2020

ASSOCIATIONS OF GENOMIC SUBGROUP WITH RECURRENCE IN LOW-GRADE MENINGIOMAS

Youngblood M., Miyagishima D., Jin L., Gupte T., Li C., Duran D., et al.

25th Virtual Annual Scientific Meeting and Education Day of the Society-for-Neuro-Oncology (SNO), ELECTR NETWORK, 19 - 21 Kasım 2020, ss.173, (Özet Bildiri)

2020

Mutations and copy number alterations in diffuse gliomas are shaped by different mechanisms

ÖZDUMAN K., Ulgen E., Karacan S., Gerlevik U., CAN Ö., Bilguvar K., et al.

32nd EORTC-NCI-AACR Symposium on Molecular Targets and Cancer Therapeutics, ELECTR NETWORK, 24 - 25 Ekim 2020, (Özet Bildiri)

2020

IDH-Mutant Gliomas Differ in Distribution of Mitochondrial Genomic Alterations

Ozduman K., Yuksel Ş., Akyerli C., Bilguvar K., Ersen-Danyeli A., Yilmaz E., et al.

Annual Scientific Meeting of the American-Association-of-Neurological-Surgeons (AANS), Massachusetts, Amerika Birleşik Devletleri, 25 - 29 Nisan 2020, ss.84, (Özet Bildiri)

2019

MENINGIOMA WITH MULTIPLE DRIVERS: GENOMIC LANDSCAPE AND CLINICAL CORRELATIONS

Li C., Tyrtova E., Youngblood M., Miyagishima D., Duran D., Montejo J., et al.

24th Annual Scientific Meeting and Education Day of the Society-for-Neuro-Oncology (SNO) / 3rd SNO-SCIDOT Joint Conference on Therapeutic Delivery to the CNS, Arizona, Amerika Birleşik Devletleri, 20 - 24 Kasım 2019, ss.141, (Özet Bildiri)

2019

Identification of Peptidyl-Prolyl Cis-Trans Isomerase-Like 4 as a Disease Causing Gene in Intracranial Aneurysms and its Role in Vertebrate CNS Specific Angiogenesis

Barak T., Sencicek A. G. E., Miyagishima D. F., Henegariu O., Gorur K. M., Bilguvar K., et al.

Annual Meeting of the Congress-of-Neurological-Surgeons, San-Francisco, Kostarika, 19 - 23 Ekim 2019, ss.71, (Özet Bildiri)

2019

Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation

Kundishora A., Zeng X., Duran D., Allocco A. A., Choi J., Jin S. C., et al.

Annual Meeting of the Congress-of-Neurological-Surgeons, San-Francisco, Kostarika, 19 - 23 Ekim 2019, ss.85, (Özet Bildiri)

2018

Severe speech delay in Cohen Syndrome: three novel mutations and the long-term follow-up of nine patients

Akdeniz B., GÜNEŞ N., ULUDAĞ ALKAYA D., Ercan-Sencicek G., ÇAĞLAYAN A. O., Bilguvar K., et al.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, ss.315-316, (Özet Bildiri)

2019

A DEEP SEQUENCING APPROACH TO DEFINE BENZIMIDAZOLE RESISTANCE GENE FREQUENCIES IN HUMAN HOOKWORM EGG SAMPLES FROM KPANDAI DISTRICT, GHANA

George S., Suwondo P., Otchere J., Harrison L. M., Bilguvar K., Knight J., et al.

68th Annual Meeting of the American-Society-for-Tropical-Medicine-and-Hygiene (ASTMH), Maryland, Amerika Birleşik Devletleri, 20 - 24 Kasım 2019, ss.616, (Özet Bildiri)

2018

Damaging Genomic Variants Constitute a Major Risk Factor for Cerebral Palsy

Kruer M., Jin S., Bakhtiari S., Lewis S., Zeng X., Sierant M., et al.

47th Annual Meeting of the Child-Neurology-Society (CNS), Illinois, Amerika Birleşik Devletleri, 15 - 18 Ekim 2018, (Özet Bildiri)

2018

Whole Genome Sequencing of Matched Prostate Cancer and High-Grade Prostatic Intraepithelial Neoplasia Demonstrates Both Shared and Private Mutations

Wilson P., Schulz W., Guo X., Bilguvar K., Humphrey P.

107th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP), Vancouver, Kanada, 17 - 23 Mart 2018, ss.399-400, (Özet Bildiri)

2017

SIGNIFICANTLY MUTATED GENES FOR RADIATION-ASSOCIATED MENINGIOMA

Claus E. B., Greenhalgh S., Gaffney S. G., Bilguvar K., Calvocoressi L., Lu L., et al.

5th Quadrennial Meeting of the World-Federation-of-Neuro-Oncology-Societies (WFNOS), Zürich, İsviçre, 4 - 07 Mayıs 2017, ss.96, (Özet Bildiri)

2017

Clinical and Molecular Features of Genomic Subgroups in Meningioma

Youngblood M. W., Clark V., Harmanci A. S., Bai H., Mora D. D., Montejo J., et al.

Annual Scientific Meeting of the American-Association-of-Neurological-Surgeons (AANS), Los-Angeles, Şili, 22 - 26 Nisan 2017, (Özet Bildiri)

2016

Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies

ÇAĞLAYAN A. O., Omay Z. E. E., Koksal Y., Coskun S., Unal E., PER H., et al.

European Biotechnology Conference, Letonya, 5 - 07 Mayıs 2016, (Özet Bildiri)

2014

Familial Occurrence of Brain Arteriovenous Malformation: A Novel ACVRL1 Mutation Detected by Whole Exome Sequencing

Toktas Z., Eksi M. S., Yilmaz B., Konya D., Bilguvar K., Guenel M., et al.

83rd Annual Scientific Meeting of the American-Association-of-Neurological-Surgeons, San-Francisco, Kostarika, 5 - 09 Nisan 2014, (Özet Bildiri)

2015

Somatic V600E BRAF mutation causes syringocystadenoma papilliferum

Levinsohn J., Sugarman J., Bilguvar K., McNiff J., Choate K. A.

Annual Meeting of the Society-for-Investigative-Dermatology, Georgia, Amerika Birleşik Devletleri, 6 - 09 Mayıs 2015, (Özet Bildiri)

2014

The distinct genetic pattern of ALS in Turkey

Ozoguz A., Uyan O., Birdal G., Iskender C., Omur O., Lahut S., et al.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, (Özet Bildiri)

2014

The distinct genetic pattern of ALS in Turkey

Ozoguz A., Uyan O., Birdal G., Iskender C., Omur O., Lahut S., et al.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, ss.63, (Özet Bildiri)

2013

CORRELATION OF GENETIC SIGNATURES AND HISTOLOGICAL SUBTYPES OF MENINGIOMAS

Omay S. B., Guenel J. M., Clark V. E., Li J., Omay E. Z. E., Serin A., et al.

4th Quadrennial Meeting of the World-Federation-of-Neuro-Oncology (WFNO) held in conjunction with the 18th Annual Meeting of the Society-for-Neuro-Oncology (SNO), San-Francisco, Kostarika, 21 - 24 Kasım 2013, ss.160-161, (Özet Bildiri)

2013

GENOMIC ANALYSIS OF TRAF7-ONLY MUTANT MENINGIOMAS REVEALS NOVEL DRIVER MUTATIONS

Clark V., Omay Z. E., Serin A., Guenel J., Omay B., Grady C., et al.

4th Quadrennial Meeting of the World-Federation-of-Neuro-Oncology (WFNO) held in conjunction with the 18th Annual Meeting of the Society-for-Neuro-Oncology (SNO), San-Francisco, Kostarika, 21 - 24 Kasım 2013, ss.138-139, (Özet Bildiri)

2012

Identification of a novel missense mutation in RAD51 in a large family with congenital mirror movements

ONAT O. E., GÜLSÜNER S. İ., BİLGEN AKDENİZ H. R., KILINÇ G. M., Bilguvar K., BOYACI H., et al.

62nd Annual Meeting of the American Society of Human Genetics, ASHG 2012, San-Francisco, Kostarika, 06 Kasım 2012, (Özet Bildiri)

2009

Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants

DiLuna M. L., Bilguvar K., Louvi A., Bizzarro M., Bayrakli F., Bayri Y., et al.

Annual Meeting of the Congress-of-Neuroogical-Surgeons, Louisiana, Amerika Birleşik Devletleri, 24 - 29 Ekim 2009, ss.419, (Özet Bildiri)

2008

High resolution copy number variation analysis of sporadic and familial CCM patients

Bayri Y., Ho W. S., Bilguvar K., DiLuna M., Bydon M., Collins L. A., et al.

33rd International Stroke Conference, Louisiana, Amerika Birleşik Devletleri, 19 - 21 Şubat 2008, ss.564, (Özet Bildiri)

2008

Genome wide association study of intracranial aneurysms in the Finnish population

Bilguvar K., Bayri Y., DiLuna M., Bayrakli F., Mason C. E., Bydon M., et al.

33rd International Stroke Conference, Louisiana, Amerika Birleşik Devletleri, 19 - 21 Şubat 2008, ss.568, (Özet Bildiri)

2007

Linkage and copy number variation analysis of large families and sibling pairs demonstrates locus heterogeneity for familial intracranial aneurysms

Bilguvar K., Bayrakli F., Bayri Y., Ozturk A. K., DiLuna M. L., Bydon M., et al.

57th Annual Congress of Neurological Surgery (CNS 2007), California, Amerika Birleşik Devletleri, 17 - 19 Eylül 2007, ss.198, (Özet Bildiri)

2006

Genetic heterogeneity of intracranial aneurysm

Gunel M., Ozturk A., Bydon M., Nahed B., Guclu B., Bilguvar K., et al.

Joint Annual Meeting of the AANS/CNS Cerebrovascular Section/American-Society-of-Interventional-and-Therapeutic-Neuroradiology, Florida, Amerika Birleşik Devletleri, 17 - 20 Şubat 2006, ss.399, (Özet Bildiri)

Desteklenen Projeler

2023 - 2028

A Gene Network Discovery Approach to Structural Brain Disorders

Diğer Uluslararası Fon Programları

Bilgüvar K. (Yürütücü)

2023 - 2026

Obezite ile İlişkili Genler STEAP1B, KCNQ5 ve UCP1'in Araştırılması ve Moleküler Karakterizasyonu

TÜBİTAK Projesi

Bilgüvar K., Onat O. E.(Yürütücü)

2022 - 2025

Deep-CP: Cerebral Palsy için AlphaFold Kullanarak Derin Öğrenme Varyant Patojenite Tahmin Aracı Geliştirilmesi

TÜBİTAK Projesi

Bilgüvar K., Bayram Akçapınar G. (Yürütücü), Hatırnaz Ng Ö., Özbek U., Akgün Doğan Ö.

2020 - 2025

Human genetics and molecular mechanisms of congenital hydrocephalus

Diğer Uluslararası Fon Programları

Bilgüvar K.

2022 - 2024

İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu-İSTisNA

Kalkınma Ajansı

Bilgüvar K., Hatırnaz Ng Ö. (Yürütücü), Özdemir Ö., Akgün Doğan Ö., Alanay Y., Özbek U.

2019 - 2024

Genomics insight into neurobiology of cerebral palsy

Diğer Uluslararası Fon Programları

Bilgüvar K. (Yürütücü), Kruer M.(Yürütücü)

2018 - 2023

George M. O'Brien Kidney Center at Yale

Diğer Uluslararası Fon Programları

Bilgüvar K., Aronson P.(Yürütücü)

2015 - 2021

Yale Center for Mendelian Genomics

Diğer Uluslararası Fon Programları

Bilgüvar K., Lifton R.(Yürütücü), Günel M.(Yürütücü), Gerstein M.(Yürütücü), Mane S.(Yürütücü)

2015 - 2019

Integrating the genomics of Autism Spectrum Disorders in consanguineous and "idiopathic" families

Diğer Uluslararası Fon Programları

Bilgüvar K., Günel M.(Yürütücü), State M.(Yürütücü)

2014 - 2017

Disease Gene Discovery in Structural Brain Disorders

Diğer Uluslararası Fon Programları

Bilgüvar K. (Yürütücü), Günel M.(Yürütücü)

2007 - 2017

Molecular Genetic Pathogenesis of Intracranial Aneurysms

Diğer Uluslararası Fon Programları

Bilgüvar K., Günel M.(Yürütücü)

2011 - 2015

Yale Center for Mendelian Genetics

Diğer Uluslararası Fon Programları

Bilgüvar K., Lifton R.(Yürütücü), Mane S.(Yürütücü), Günel M.(Yürütücü), Gerstein M.(Yürütücü)

2009 - 2015

Molecular Variants that Determine Genetic Susceptibility to Intracranial Aneurysm

Diğer Uluslararası Fon Programları

Bilgüvar K., Günel M.(Yürütücü)

2009 - 2012

Gene Discovery in Recessive Structural Brain Disorders through Whole Exome Sequencing

Diğer Uluslararası Fon Programları

Bilgüvar K., Günel M.(Yürütücü)

Bilimsel Projelerde Hakemlikler

Kasım 2024

Diğer Uluslararası Fon Programları

NIH, Amerika Birleşik Devletleri

Ödüller

Ocak 2010