Asst. Prof. KAYA BİLGÜVAR

Publication Network

Articles 156

1. Subgroup of meningiomas involving FOS and FOSB gene fusions

Yalcin K., Alanya H., Gultekin B., Samper Figuera D., Barak T., Miyagishima D. F., et al.

Nature Communications , vol.16, no.1, 2025 (SCI-Expanded, Scopus)

2. Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

KAYMAKÇALAN ÇELEBİLER H., Barak T., Rai D. K., KAYA İ., Erbilgin S., ÇIKILI UYTUN M., et al.

Molecular Syndromology , vol.16, no.4, pp.342-353, 2025 (SCI-Expanded, Scopus)

3. 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 , vol.15, no.1, pp.11682, 2025 (SCI-Expanded, Scopus)

4. 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 , vol.122, no.13, 2025 (SCI-Expanded, Scopus)

5. 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 , vol.20, no.4 April, 2025 (SCI-Expanded, Scopus)

6. 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 , vol.638, no.8049, pp.172-181, 2025 (SCI-Expanded, Scopus)

7. 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, Scopus)

8. 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.) , vol.2889, pp.207-233, 2025 (Scopus)

9. 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 , vol.12, pp.1412880, 2024 (SCI-Expanded, Scopus)

10. 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 , vol.121, no.12, 2024 (SCI-Expanded, Scopus)

11. 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 , vol.147, no.1, pp.311-324, 2024 (SCI-Expanded, Scopus) Sustainable Development

12. 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 , vol.14, no.1, 2023 (SCI-Expanded, Scopus)

13. 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 , vol.27, no.9, pp.426-433, 2023 (SCI-Expanded, Scopus) Sustainable Development

14. 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 , vol.60, no.8, pp.819-826, 2023 (SCI-Expanded, Scopus)

15. 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 , vol.120, no.16, 2023 (SCI-Expanded, Scopus) Sustainable Development

16. 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 , vol.379, no.6632, pp.554-574, 2023 (SCI-Expanded, Scopus) Sustainable Development

17. 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 , vol.12, 2023 (SCI-Expanded, Scopus) Sustainable Development

18. 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 , vol.12, no.1, 2022 (SCI-Expanded, Scopus) Sustainable Development

19. 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 , vol.5, no.1, 2022 (SCI-Expanded, Scopus) Sustainable Development

20. 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 , vol.67, no.9, pp.553-556, 2022 (SCI-Expanded, Scopus) Sustainable Development

21. 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 , vol.10, no.6, 2022 (SCI-Expanded, Scopus) Sustainable Development

22. 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 , vol.119, no.21, 2022 (SCI-Expanded, Scopus) Sustainable Development

23. 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 , vol.48, no.5, pp.1202-1211, 2022 (SCI-Expanded, Scopus) Sustainable Development

24. 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 , vol.3, no.4, 2022 (SCI-Expanded, Scopus) Sustainable Development

25. 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 , vol.188, no.1, pp.357-363, 2022 (SCI-Expanded, Scopus) Sustainable Development

26. 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 , vol.57, no.5, pp.521-525, 2022 (ESCI, Scopus, TRDizin) Sustainable Development

27. 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 , vol.27, no.12, pp.2165-2175, 2021 (SCI-Expanded, Scopus) Sustainable Development

28. 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 , vol.23, no.12, pp.2455-2460, 2021 (SCI-Expanded, Scopus) Sustainable Development

29. 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 , vol.108, no.10, pp.2006-2016, 2021 (SCI-Expanded, Scopus) Sustainable Development

30. 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 , vol.144, no.8, 2021 (SCI-Expanded, Scopus)

31. 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 , vol.118, no.36, 2021 (SCI-Expanded, SSCI, Scopus)

32. 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 , vol.7, no.4, 2021 (SCI-Expanded, SSCI, Scopus) Sustainable Development

33. 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 , vol.6, no.62, 2021 (SCI-Expanded, Scopus) Sustainable Development

34. 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 , vol.6, no.62, 2021 (SCI-Expanded, Scopus) Sustainable Development

35. 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 (Peer-Reviewed Journal)

36. 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 , no.4, pp.1001-1012, 2021 (SCI-Expanded, Scopus)

37. 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 , vol.185, no.7, pp.2271-2277, 2021 (SCI-Expanded, Scopus) Sustainable Development

38. 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 , vol.7, no.3, 2021 (SCI-Expanded, Scopus) Sustainable Development

39. 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 , vol.23, no.5, pp.783-794, 2021 (SCI-Expanded, Scopus)

40. 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 , vol.144, pp.1422-1434, 2021 (SCI-Expanded, Scopus) Sustainable Development

41. 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 , vol.9, 2021 (SCI-Expanded, Scopus) Sustainable Development

42. 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 , vol.118, no.15, 2021 (SCI-Expanded, Scopus) Sustainable Development

43. 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 , vol.66, no.2, pp.215-218, 2021 (SCI-Expanded, Scopus) Sustainable Development

44. 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 , vol.14, no.1, 2021 (SCI-Expanded, Scopus)

45. 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 , vol.30, no.1, pp.54-57, 2021 (SCI-Expanded, Scopus) Sustainable Development

46. 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 , vol.218, no.3, 2021 (SCI-Expanded, Scopus) Sustainable Development

47. 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 , vol.185, no.1, pp.119-133, 2021 (SCI-Expanded, Scopus) Sustainable Development

48. 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 , no.SUPPL 1, pp.263-264, 2020 (SCI-Expanded, Scopus)

49. 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 , pp.195, 2020 (SCI-Expanded, Scopus)

50. 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 , vol.8, no.12, 2020 (SCI-Expanded, Scopus)

51. 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 , vol.133, no.5, pp.1345-1354, 2020 (SCI-Expanded, Scopus)

52. 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 , vol.26, no.11, pp.1754-1765, 2020 (SCI-Expanded, Scopus) Sustainable Development

53. 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 , vol.370, no.6515, pp.423-435, 2020 (SCI-Expanded, Scopus) Sustainable Development

54. 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 , vol.370, no.6515, 2020 (SCI-Expanded, Scopus) Sustainable Development

55. 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 , vol.52, no.10, pp.1046-1056, 2020 (SCI-Expanded, Scopus) Sustainable Development

56. 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 , vol.130, no.7, pp.3885-3900, 2020 (SCI-Expanded, Scopus)

57. 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 , vol.143, pp.1447-1461, 2020 (SCI-Expanded, Scopus) Sustainable Development

58. 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 , vol.132, no.5, pp.1435-1446, 2020 (SCI-Expanded, Scopus)

59. 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 , vol.96, no.5, pp.473-477, 2019 (SCI-Expanded, Scopus) Sustainable Development

60. 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 , vol.101, no.3, pp.429-447, 2019 (SCI-Expanded, Scopus) Sustainable Development

61. 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 , vol.116, no.45, pp.22730-22736, 2019 (SCI-Expanded, Scopus) Sustainable Development

62. 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 , vol.57, no.12, pp.645-652, 2018 (SCI-Expanded, Scopus) Sustainable Development

63. 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 , vol.84, no.5, pp.638-647, 2018 (SCI-Expanded, Scopus) Sustainable Development

64. 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 , vol.103, no.5, pp.666-678, 2018 (SCI-Expanded, Scopus) Sustainable Development

65. 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 , pp.94, 2018 (SCI-Expanded, Scopus)

66. 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 , vol.50, no.8, pp.1093-1107, 2018 (SCI-Expanded, Scopus)

67. 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 , vol.99, no.2, pp.302-318, 2018 (SCI-Expanded, Scopus) Sustainable Development

68. 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 , vol.9, pp.16215, 2018 (SCI-Expanded, Scopus)

69. 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 , vol.6, no.2, pp.230-248, 2018 (SCI-Expanded, Scopus) Sustainable Development

70. 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 , vol.4, no.1, 2018 (SCI-Expanded, Scopus) Sustainable Development

71. 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 , vol.49, no.11, pp.1593-1601, 2017 (SCI-Expanded, Scopus) Sustainable Development

72. 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 , vol.20, no.10, pp.1329-1341, 2017 (SCI-Expanded, Scopus)

73. 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 , vol.82, no.3, pp.466-478, 2017 (SCI-Expanded, Scopus) Sustainable Development

74. 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 , vol.3, no.5, 2017 (ESCI, Scopus) Sustainable Development

75. 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 , vol.126, no.6, pp.1879-1883, 2017 (SCI-Expanded, Scopus) Sustainable Development

76. 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 , vol.49, no.3, pp.457-464, 2017 (SCI-Expanded, Scopus) Sustainable Development

77. 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 , vol.8, 2017 (SCI-Expanded, Scopus) Sustainable Development

78. 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 , vol.9, 2017 (SCI-Expanded, Scopus)

79. 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 , vol.3, 2016 (Scopus)

80. 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 , vol.167, no.6, pp.1481-1512, 2016 (SCI-Expanded, SSCI, Scopus) Sustainable Development

81. 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 , vol.99, no.5, pp.1181-1189, 2016 (SCI-Expanded, Scopus) Sustainable Development

82. 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 , vol.113, no.43, pp.12238-12243, 2016 (SCI-Expanded, Scopus) Sustainable Development

83. 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 , vol.113, no.40, pp.11289-11293, 2016 (SCI-Expanded, Scopus) Sustainable Development

84. 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 , vol.48, no.10, pp.1253-1259, 2016 (SCI-Expanded, Scopus) Sustainable Development

85. 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 , vol.5, 2016 (SCI-Expanded, Scopus) Sustainable Development

86. 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 , no.5, 2016 (ESCI, Scopus)

87. 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 , vol.99, no.2, pp.501-510, 2016 (SCI-Expanded, Scopus) Sustainable Development

88. 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 , vol.98, no.6, pp.1249-1255, 2016 (SCI-Expanded, Scopus) Sustainable Development

89. 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 , vol.61, no.5, pp.395-403, 2016 (SCI-Expanded, Scopus) Sustainable Development

90. 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 , vol.170, no.5, pp.1165-1173, 2016 (SCI-Expanded, Scopus) Sustainable Development

91. 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 , vol.170, no.5, pp.1187-1195, 2016 (SCI-Expanded, Scopus) Sustainable Development

92. Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

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

CLINICAL ENDOCRINOLOGY , vol.84, no.4, pp.632-634, 2016 (SCI-Expanded, Scopus) Sustainable Development

93. 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 , vol.113, no.8, pp.2170-2175, 2016 (SCI-Expanded, Scopus) Sustainable Development

94. 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 , vol.48, no.1, pp.59-69, 2016 (SCI-Expanded, Scopus)

95. 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 , vol.350, no.6265, pp.1262-1266, 2015 (SCI-Expanded, Scopus) Sustainable Development

96. 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 , vol.46, no.6, pp.420-423, 2015 (SCI-Expanded, Scopus) Sustainable Development

97. 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 , vol.135, no.10, pp.2536-2538, 2015 (SCI-Expanded, Scopus) Sustainable Development

98. 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 , vol.17, no.10, pp.1356-1364, 2015 (SCI-Expanded, Scopus)

99. 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 , vol.54, no.9, pp.542-554, 2015 (SCI-Expanded, Scopus) Sustainable Development

100. 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 , vol.97, no.2, pp.199-215, 2015 (SCI-Expanded, Scopus) Sustainable Development

101. 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 , vol.47, no.5, pp.512-517, 2015 (SCI-Expanded, Scopus) Sustainable Development

102. 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 , vol.45, no.5, pp.771-776, 2015 (SCI-Expanded, Scopus) Sustainable Development

103. 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 , vol.10, no.4, 2015 (SCI-Expanded, Scopus) Sustainable Development

104. 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 , vol.36, no.4, 2015 (SCI-Expanded, Scopus) Sustainable Development

105. 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 , vol.10, no.7, pp.1158-1172, 2015 (SCI-Expanded, Scopus) Sustainable Development

106. 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 , vol.23, no.2, pp.165-172, 2015 (SCI-Expanded, Scopus) Sustainable Development

107. 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) Sustainable Development

108. 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 , vol.135, no.6, pp.1540-1547, 2015 (SCI-Expanded, Scopus) Sustainable Development

109. 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 , vol.58, no.1, pp.39-43, 2015 (SCI-Expanded, Scopus) Sustainable Development

110. 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 , vol.19, no.6, pp.743-746, 2015 (SCI-Expanded, Scopus) Sustainable Development

111. 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 , vol.84, no.6, pp.1226-1239, 2014 (SCI-Expanded, Scopus) Sustainable Development

112. 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 , vol.51, no.6, pp.806-813, 2014 (SCI-Expanded, Scopus) Sustainable Development

113. 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 , vol.20, no.11, pp.1253-1256, 2014 (SCI-Expanded, Scopus) Sustainable Development

114. 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 , vol.34, no.11, pp.1539-1544, 2014 (SCI-Expanded, Scopus) Sustainable Development

115. 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 , vol.157, no.3, pp.651-663, 2014 (SCI-Expanded, Scopus) Sustainable Development

116. 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 , vol.5, 2014 (SCI-Expanded, Scopus)

117. 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 , vol.164, no.7, pp.1677-1685, 2014 (SCI-Expanded, Scopus) Sustainable Development

118. 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 , vol.343, no.6170, pp.506-511, 2014 (SCI-Expanded, Scopus) Sustainable Development

119. 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 , vol.61, no.5, pp.1178-1183, 2014 (SCI-Expanded, Scopus) Sustainable Development

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

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

Genetic Counseling , vol.24, no.3, pp.283-289, 2013 (SCI-Expanded, Scopus)

121. 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 , vol.84, no.4, pp.394-395, 2013 (SCI-Expanded, Scopus) Sustainable Development

122. 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, Scopus)

123. 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 , vol.92, no.3, pp.468-474, 2013 (SCI-Expanded, Scopus) Sustainable Development

124. 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 , vol.339, no.6123, pp.1077-1080, 2013 (SCI-Expanded, Scopus)

125. 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 , vol.21, no.3, pp.281-285, 2013 (SCI-Expanded, Scopus)

126. 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 , vol.110, no.9, pp.3489-3494, 2013 (SCI-Expanded, Scopus)

127. 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 , vol.161, no.6, pp.1300-1308, 2013 (SCI-Expanded, Scopus) Sustainable Development

128. 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 , vol.485, no.7397, pp.237-241, 2012 (SCI-Expanded, Scopus) Sustainable Development

129. 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 , vol.71, no.5, pp.392-402, 2012 (SCI-Expanded, Scopus)

130. 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 , vol.108, no.49, pp.19707-19712, 2011 (SCI-Expanded, Scopus) Sustainable Development

131. 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 , vol.21, no.12, pp.1995-2003, 2011 (SCI-Expanded, Scopus)

132. 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 , vol.70, no.5, pp.863-885, 2011 (SCI-Expanded, Scopus) Sustainable Development

133. 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 , vol.43, no.6, pp.590-596, 2011 (SCI-Expanded, Scopus)

134. 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 , vol.88, no.5, pp.523-535, 2011 (SCI-Expanded, Scopus)

135. 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 , vol.25, no.10, pp.1265-1268, 2010 (SCI-Expanded, Scopus) Sustainable Development

136. 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 , vol.467, no.7312, pp.207-211, 2010 (SCI-Expanded, Scopus) Sustainable Development

137. 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 , vol.11, no.3, pp.319-325, 2010 (SCI-Expanded, Scopus) Sustainable Development

138. 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 , vol.362, no.20, pp.1901-1908, 2010 (SCI-Expanded, Scopus) Sustainable Development

139. 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 , vol.77, no.5, pp.499-502, 2010 (SCI-Expanded, Scopus) Sustainable Development

140. 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 , vol.42, no.5, pp.420-425, 2010 (SCI-Expanded, Scopus)

141. 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 , vol.152, no.4, pp.1039-1042, 2010 (SCI-Expanded, Scopus) Sustainable Development

142. 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 , vol.16, no.12, pp.1610-1614, 2009 (SCI-Expanded, Scopus) Sustainable Development

143. 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 , vol.149, no.11, pp.2569-2572, 2009 (SCI-Expanded, Scopus) Sustainable Development

144. 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 , vol.155, no.5, pp.743-745, 2009 (SCI-Expanded, Scopus)

145. 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 , vol.40, no.12, pp.1472-1477, 2008 (SCI-Expanded, Scopus)

146. 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 , vol.15, no.10, pp.1130-1136, 2008 (SCI-Expanded, Scopus) Sustainable Development

147. 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 , vol.69, no.6, pp.561-567, 2008 (SCI-Expanded, Scopus) Sustainable Development

148. 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 , vol.15, no.6, pp.672-678, 2008 (SCI-Expanded, Scopus) Sustainable Development

149. 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 , vol.9, no.2, pp.119-125, 2008 (SCI-Expanded, Scopus) Sustainable Development

150. 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 , vol.28, no.12, pp.1236-1240, 2007 (SCI-Expanded, Scopus) Sustainable Development

151. 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 , vol.107, no.6, pp.495-499, 2007 (SCI-Expanded, Scopus) Sustainable Development

152. 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 , vol.143A, no.7, pp.672-677, 2007 (SCI-Expanded, Scopus)

153. Genetics of intracranial aneurysms

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

NEUROSURGERY , vol.60, no.2, pp.213-225, 2007 (SCI-Expanded, Scopus) Sustainable Development

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

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

STROKE , vol.37, no.9, pp.2215-2216, 2006 (SCI-Expanded, Scopus)

155. 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 , vol.37, no.4, pp.1021-1027, 2006 (SCI-Expanded, Scopus) Sustainable Development

156. 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 , vol.57, no.5, pp.1008-1012, 2005 (SCI-Expanded, Scopus) Sustainable Development

Papers Presented at Peer-Reviewed Scientific Conferences 28

1. 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, United States Of America, 25 - 28 April 2025, (Summary Text)

2. 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, United States Of America, 9 - 12 September 2023, (Summary Text)

3. 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 November 2021, pp.151-152, (Summary Text)

4. 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 November 2020, pp.173, (Summary Text)

5. 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 October 2020, (Summary Text)

6. 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, United States Of America, 25 - 29 April 2020, pp.84, (Summary Text)

7. 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, United States Of America, 20 - 24 November 2019, pp.141, (Summary Text)

8. 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, Costa Rica, 19 - 23 October 2019, pp.85, (Summary Text)

9. 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, Costa Rica, 19 - 23 October 2019, pp.71, (Summary Text)

10. 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, Italy, 16 - 19 June 2018, pp.315-316, (Summary Text)

11. 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, United States Of America, 20 - 24 November 2019, pp.616, (Summary Text)

12. 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, United States Of America, 15 - 18 October 2018, (Summary Text)

13. 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, Canada, 17 - 23 March 2018, pp.399-400, (Summary Text)

14. 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, Switzerland, 4 - 07 May 2017, pp.96, (Summary Text)

15. 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, Chile, 22 - 26 April 2017, (Summary Text) Sustainable Development

16. 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, Latvia, 5 - 07 May 2016, (Summary Text)

17. 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, Costa Rica, 5 - 09 April 2014, (Summary Text)

18. 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, United States Of America, 6 - 09 May 2015, (Summary Text)

19. 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, Turkey, 31 May - 03 June 2014, pp.63, (Summary Text)

20. 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, Turkey, 31 May - 03 June 2014, (Summary Text)

21. 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, Costa Rica, 21 - 24 November 2013, pp.138-139, (Summary Text)

22. 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.

23. 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, Costa Rica, 06 November 2012, (Summary Text)

24. 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, United States Of America, 24 - 29 October 2009, pp.419, (Summary Text)

25. 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, United States Of America, 19 - 21 February 2008, pp.564, (Summary Text)

26. 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, United States Of America, 19 - 21 February 2008, pp.568, (Summary Text)

27. 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, United States Of America, 17 - 19 September 2007, pp.198, (Summary Text)

28. 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, United States Of America, 17 - 20 February 2006, pp.399, (Summary Text)

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179

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154

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14884

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