Dr. Öğr. Üyesi KAYA BİLGÜVAR

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

21. 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, Scopus) Sürdürülebilir Kalkınma

22. 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, Scopus) Sürdürülebilir Kalkınma

23. 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, Scopus) Sürdürülebilir Kalkınma

24. 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, Scopus) Sürdürülebilir Kalkınma

25. 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, Scopus) Sürdürülebilir Kalkınma

26. 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, Scopus) Sürdürülebilir Kalkınma

27. 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, Scopus) Sürdürülebilir Kalkınma

28. 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, Scopus) Sürdürülebilir Kalkınma

29. 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, Scopus) Sürdürülebilir Kalkınma

30. 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, Scopus) Sürdürülebilir Kalkınma

31. 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, Scopus, TRDizin) Sürdürülebilir Kalkınma

32. 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, Scopus) Sürdürülebilir Kalkınma

33. 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, Scopus) Sürdürülebilir Kalkınma

34. 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, Scopus) Sürdürülebilir Kalkınma

35. 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, Scopus)

36. 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, SSCI, Scopus)

37. 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, SSCI, Scopus) Sürdürülebilir Kalkınma

38. 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, Scopus) Sürdürülebilir Kalkınma

39. 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, Scopus) Sürdürülebilir Kalkınma

40. 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)

41. 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, Scopus) Sürdürülebilir Kalkınma

42. 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, Scopus)

43. 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, Scopus) Sürdürülebilir Kalkınma

44. 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, Scopus)

45. 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, Scopus) Sürdürülebilir Kalkınma

46. 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, Scopus) Sürdürülebilir Kalkınma

47. 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, Scopus) Sürdürülebilir Kalkınma

48. 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, Scopus) Sürdürülebilir Kalkınma

49. 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, Scopus)

50. 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, Scopus) Sürdürülebilir Kalkınma

51. 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, Scopus) Sürdürülebilir Kalkınma

52. 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, Scopus) Sürdürülebilir Kalkınma

53. 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, Scopus)

54. 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, Scopus)

55. 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, Scopus)

56. 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, Scopus)

57. 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, Scopus) Sürdürülebilir Kalkınma

58. 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, Scopus) Sürdürülebilir Kalkınma

59. 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, Scopus) Sürdürülebilir Kalkınma

60. 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, Scopus) Sürdürülebilir Kalkınma

61. 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, Scopus)

62. 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, Scopus)

63. 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, Scopus) Sürdürülebilir Kalkınma

64. 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, Scopus) Sürdürülebilir Kalkınma

65. 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, Scopus) Sürdürülebilir Kalkınma

66. 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, Scopus) Sürdürülebilir Kalkınma

67. 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, Scopus) Sürdürülebilir Kalkınma

68. 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, Scopus) Sürdürülebilir Kalkınma

69. 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, Scopus) Sürdürülebilir Kalkınma

70. 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, Scopus)

71. 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, Scopus)

72. 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, Scopus) Sürdürülebilir Kalkınma

73. 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, Scopus)

74. 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, Scopus) Sürdürülebilir Kalkınma

75. 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, Scopus) Sürdürülebilir Kalkınma

76. 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, Scopus) Sürdürülebilir Kalkınma

77. 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, Scopus)

78. 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, Scopus) Sürdürülebilir Kalkınma

79. 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, Scopus) Sürdürülebilir Kalkınma

80. 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, Scopus) Sürdürülebilir Kalkınma

81. 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, Scopus) Sürdürülebilir Kalkınma

82. 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, Scopus) Sürdürülebilir Kalkınma

83. 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, Scopus)

84. 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)

85. 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, SSCI, Scopus) Sürdürülebilir Kalkınma

86. 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, Scopus) Sürdürülebilir Kalkınma

87. 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, Scopus) Sürdürülebilir Kalkınma

88. 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, Scopus) Sürdürülebilir Kalkınma

89. 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, Scopus) Sürdürülebilir Kalkınma

90. 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, Scopus) Sürdürülebilir Kalkınma

91. 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, Scopus)

92. 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, Scopus) Sürdürülebilir Kalkınma

93. 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, Scopus) Sürdürülebilir Kalkınma

94. 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, Scopus) Sürdürülebilir Kalkınma

95. 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, Scopus) Sürdürülebilir Kalkınma

96. 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, Scopus) Sürdürülebilir Kalkınma

97. 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, Scopus) Sürdürülebilir Kalkınma

98. 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, Scopus) Sürdürülebilir Kalkınma

99. 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, Scopus)

100. 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, Scopus) Sürdürülebilir Kalkınma

101. 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, Scopus) Sürdürülebilir Kalkınma

102. 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, Scopus) Sürdürülebilir Kalkınma

103. 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, Scopus)

104. 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, Scopus) Sürdürülebilir Kalkınma

105. 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, Scopus) Sürdürülebilir Kalkınma

106. 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, Scopus) Sürdürülebilir Kalkınma

107. 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, Scopus) Sürdürülebilir Kalkınma

108. 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, Scopus) Sürdürülebilir Kalkınma

109. 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, Scopus) Sürdürülebilir Kalkınma

110. 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, Scopus) Sürdürülebilir Kalkınma

111. 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, Scopus) Sürdürülebilir Kalkınma

112. 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, Scopus) Sürdürülebilir Kalkınma

113. 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, Scopus) Sürdürülebilir Kalkınma

114. 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, Scopus) Sürdürülebilir Kalkınma

115. 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) Sürdürülebilir Kalkınma

116. 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, Scopus) Sürdürülebilir Kalkınma

117. 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, Scopus) Sürdürülebilir Kalkınma

118. 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, Scopus) Sürdürülebilir Kalkınma

119. 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, Scopus) Sürdürülebilir Kalkınma

120. 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, Scopus) Sürdürülebilir Kalkınma

121. 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, Scopus)

122. 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, Scopus) Sürdürülebilir Kalkınma

123. 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, Scopus) Sürdürülebilir Kalkınma

124. 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, Scopus) Sürdürülebilir Kalkınma

125. 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, Scopus)

126. 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, Scopus) Sürdürülebilir Kalkınma

127. 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)

128. 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, Scopus) Sürdürülebilir Kalkınma

129. 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, Scopus)

130. 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, Scopus)

131. 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, Scopus)

132. 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, Scopus) Sürdürülebilir Kalkınma

133. 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, Scopus) Sürdürülebilir Kalkınma

134. 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, Scopus)

135. 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, Scopus) Sürdürülebilir Kalkınma

136. 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, Scopus)

137. 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, Scopus) Sürdürülebilir Kalkınma

138. 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, Scopus)

139. 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, Scopus)

140. 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, Scopus) Sürdürülebilir Kalkınma

141. 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, Scopus) Sürdürülebilir Kalkınma

142. 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, Scopus) Sürdürülebilir Kalkınma

143. 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, Scopus) Sürdürülebilir Kalkınma

144. 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, Scopus)

145. 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, Scopus) Sürdürülebilir Kalkınma

146. 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, Scopus) Sürdürülebilir Kalkınma

147. 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, Scopus) Sürdürülebilir Kalkınma

148. 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, Scopus)

149. 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, Scopus) Sürdürülebilir Kalkınma

150. 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, Scopus)

151. 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, Scopus) Sürdürülebilir Kalkınma

152. 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, Scopus) Sürdürülebilir Kalkınma

153. 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, Scopus) Sürdürülebilir Kalkınma

154. 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, Scopus) Sürdürülebilir Kalkınma

155. 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, Scopus) Sürdürülebilir Kalkınma

156. 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, Scopus) Sürdürülebilir Kalkınma

157. 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, Scopus)

158. 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, Scopus) Sürdürülebilir Kalkınma

159. 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, Scopus)

160. 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, Scopus) Sürdürülebilir Kalkınma

161. 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, Scopus) Sürdürülebilir Kalkınma

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 39

1. IDENTIFICATION OF GENETIC CONTRIBUTORS TO OVERGROWTHINTELLECTUAL DISABILITY DISORDERS (OGID) THROUGH COMPREHENSIVE GENOMIC ANALYSIS

Köroğlu Karakaya M. N., Barak T., Gültekin B., Bulut A. Ş., Yalçın K., Bilgüvar K., et al.

Precision Medicine & Functional Genomics, Ad-Dawhah, Qatar, 02 Aralık 2025, (Yayınlanmadı)

2. UDP-IST: First Undiagnosed Disease Program in Istanbul - Insights from Early Outcomes

AKGÜN DOĞAN Ö., ÖZDEMİR Ö., Ozkose-Iyigel G. S., BULUT A., AYDIN E., Gunay H., et al.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, ss.919-920, (Özet Bildiri)

3. Integrating Standardized Biobanking into Rare Disease Research: Insights from the ACURARE Biobank

Şahim İ., ANTMEN F. M., Erdoğan C., Onder G., Özköse İyigel G. Ş., Yılmaz J. C., et al.

Europe Biobank Week Congress, Bologna, İtalya, 13 - 16 Mayıs 2025, (Özet Bildiri)

4. 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)

5. Exome-sequencing of Turkish Families with Multiple Sclerosis: Low Frequency and Rare Variant Contributions into Susceptibility

Buyukgol F., GÜRDAMAR B., Bulbul A., Sezerman O. U., Everest E., Voyvoda U., et al.

Annual Meeting of the American-Academy-of-Neurology (AAN), California, Amerika Birleşik Devletleri, 5 - 09 Nisan 2025, cilt.104, (Özet Bildiri)

6. Unveiling the Protein Landscape in Cerebral Palsy Through AI Based Structural Analysis

Özkeserli Z., Yiğit A., Akgün Doğan Ö., Bilgüvar K., Özbek U., Bayram Akçapınar G.

HIBIT 2024 17th International Symposium on Health Informatics and Bioinformatics, İstanbul, Türkiye, 18 - 20 Aralık 2024, ss.161, (Özet Bildiri)

7. 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.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1484-1485, (Özet Bildiri)

8. Unveiling the genetic diversity of cerebral palsy mimics using trio-WES in the Turkish cohort

Yigit A., AKGÜN DOĞAN Ö., BAYRAM AKÇAPINAR G., ÖZKESERLİ Z., Ayta S., HATIRNAZ NG Ö., et al.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1503, (Özet Bildiri)

9. Yoğun Bakımdaki Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı-İlk Türkiye Deneyimi

Güner Yılmaz B., Akgün Doğan Ö., Özdemir Ö., Bilgüvar K., Hatırnaz Ng Ö., Özköse G. Ş., et al.

Ulusal Neonatoloji Kongresi, Antalya, Türkiye, 24 - 28 Nisan 2024, (Yayınlanmadı)

10. Identifying Novel Candidate Genes and Variants in a Turkish Cerebral Palsy Cohort: Utilizing Whole and Clinical Exome Sequencing Data for Improved Diagnostics

Yiğit A., Akgün Doğan Ö., Bayram Akçapınar G., Kara İ., Özdemir Ö., Hatırnaz Ng Ö., et al.

The European Workshop For A Multidisciplinary View On Rare Genetic Neurodevelopmental Disorders (EuroNDD), Lisbon, Portekiz, 4 - 05 Nisan 2024, (Yayınlanmadı) Sürdürülebilir Kalkınma

11. Functional and structural landscape of Cerebral Palsy (CP) related proteins

Özkeserli Z., Yiğit A., Akgün Doğan Ö., Bilgüvar K., Özbek U., Bayram Akçapınar G.

Applied Bioinformatics in Life Sciences (5th edition), Leuven, Belçika, 7 - 08 Mart 2024, ss.1, (Özet Bildiri)

12. Common Disease Rare Variant: An Analysis Framework for The Discovery of Epistatic Interactions in Complex Diseases

Köroğlu M. N., Bulut A. Ş., Bilgüvar K.

International Symposium on Health Informatics and Bioinformatics, Ankara, Türkiye, 04 Ekim 2023, ss.1-2, (Yayınlanmadı)

13. 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)

14. 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)

15. 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)

16. 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)

17. 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)

18. 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)

19. 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)

20. 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)

21. 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)

22. 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)

23. 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)

24. 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)

25. 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)

26. 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) Sürdürülebilir Kalkınma

27. 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)

28. 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)

29. 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)

30. 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)

31. 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)

32. 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)

33. 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.

34. 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)

35. 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)

36. 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)

37. 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)

38. 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)

39. 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)

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