Prof. Gözde YEŞİL SAYIN

Metrics

Publication

230

Publication (WoS)

133

Publication (Scopus)

125

Citation (WoS)

2031

H-Index (WoS)

Citation (Scopus)

2456

H-Index (Scopus)

Citation (Scholar)

H-Index (Scholar)

Citation (TrDizin)

H-Index (TrDizin)

Citation (Sum Other)

Project

Thesis Advisory

Open Access

UN Sustainable Development Goals

Education

2004 - 2015

Expertise In Medicine

Istanbul University, Turkey

1998 - 2004

Undergraduate

Istanbul University, Turkey

Dissertations

2009

Expertise In Medicine

Epilepsi hastalarında ilaç direncinin MDR1 genindeki C3435T VE G2677T/A polimorfizmleri ile ilişkisi

Istanbul University

Foreign Languages

C1 Advanced

English

Research Areas

Medical Genetics

Academic Positions

2023 - 2024

Professor

Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences

2020 - 2023

Associate Professor

Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences

2016 - 2020

Associate Professor

Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine

2013 - 2016

Assistant Professor

Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine

Managerial Experience

2019 - 2020

Member Of Scientific Research Projects Committee

Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine

2013 - 2020

Head of Department

Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine

Non Academic Experience

2025 - Present

Department Director

Company, SZA Omics Biotechnology Research and Development , Department of Medical Genetics and Bioinformatics , Department Director

2024 - Present

Medical Doctor

Hospital, Private Acıbadem Hospital, Medical Genetics, Medical Doctor

2022 - 2022

OBSERVER

NHS UCL INSTITUTE OF NEUROLOGY, OBSERVER

2019 - 2021

Genel Sekreter

Tıbbi Genetik Derneği, Genel Sekreter

2012 - 2012

Project Intern

Baylor College of Medicine, Department of Molecular and Human Genetics, Lupski Lab., Project Intern

2009 - 2011

Tıbbi Genetik Uzmani

İSTANBUL ZEYNEP KAMİL KADIN VE ÇOCUK HASTALIKLARI EĞİTİM VE ARAŞTIRMA HASTANESİ, Tıbbi Genetik Uzmani

Courses

Doctorate

GENETIC AND CLINIC ASPECTS OF RARE DISEASE

Kromozom Kirik Sendromlari Phd

Klinik genetiğe giriş ve dismorfoloji prensipleri Gend7012

KALITSAL KANSERLERDE RİSK HESAPLAMALARI

Expertise In Medicine

Dysmorphology

Chromosomal Disorders

Postgraduate

Tek Gen Hastalıkları Genetik Danışma

Konjenital Anomaliler Ve Dismorfik Sendromlar Mart 2022

Otozomal Yapısal Kromozom Anomalileri

Sık Görülen Kromozom Anomalileri

Herediter kas ve kemik hastalıkları

Genitoüriner Sistem Anomalileri

Santral sistem genetiği ve hastalıkları

Kanser ve genetik

Sex Chromosome Disorders

Autosomal Chromosome Disorders

General principles of Multifactorial Disorders

Heredity models

Chromosomal Abnormalities

Microdeletions and Clinical Effects

Undergraduate

Genes that affect CNS development

Genetik testler kime ne zaman uygulanmalı?

Genetics Of Genitourinary System

Genetics Of Congenital Anomalies Of Gis 3rd Grade GY

Toplum Sağlığı Açısından Genetik Tıp

dismorfoloji

Supervised Theses

in Progress

Expertise In Medicine

Fetal Dönemde Kontraktürler İle Seyreden Sendromların Moleküler Etiyopatogenezinin Yeni Nesil Dizileme Yöntemleri İle Araştırılması

Yeşil Sayın G. (Advisor)

G.Tutku(Student)

Continues

Doctorate

ailesel parkinson hastalığında yeni nesil dizileme ve tüm ekzom dizileme yöntemleri ile aday genlerin ve yeni varyantların belirlenmesi

Yeşil G. (Advisor)

h.atasoy(Student)

Taught Courses and Trainings

2021 - 2021

Genetik okur yazarlık kursu I

Academic Units - Certificate Program

Karaman B., Palanduz Ş., Öztürk Ş., Kalaycı T., Aslanger A. D., Yeşil Sayın G.

Articles

2025

1. Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye

Kaymak D., Kalaycı T., YEŞİL SAYIN G., KARAMAN B., Başaran S., Çebi C., et al.

Journal of Community Genetics , vol.16, no.5, pp.629-637, 2025 (ESCI)

2025

2. Impact of a Missense Mutation in TRAPPC12 in Patients with Progressive Encephalopathy, Brain Atrophy and Spasticity Phenotype without Microcephaly and Epilepsy

GÖNCÜ B. S., YEŞİL SAYIN G., Aslanger A. D., YÜCESAN E.

Experimed , vol.15, no.1, pp.41-48, 2025 (Scopus)

2025

3. Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families

Aynekin B., Akbaş S., Gulec A., Gumus U. G. O., Guner A. E., Efthymiou S., et al.

Neurogenetics , vol.26, no.1, pp.23, 2025 (SCI-Expanded)

2024

4. Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10

GÜLER S., Aslanger A. D., Uygur Sahin T., ALKAN A., YALÇINKAYA C., SALTIK S., et al.

PEDIATRIC NEUROLOGY , vol.158, pp.1-10, 2024 (SCI-Expanded)

2024

5. Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia

Kaiyrzhanov R., Ortigoza-Escobar J. D., Stringer B. W., Ganieva M., Gowda V. K., Srinivasan V. M., et al.

Movement Disorders , vol.39, no.6, pp.983-995, 2024 (SCI-Expanded)

2024

6. A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features

Durmaz D., Aslanger A. D., Yavas Abali Z., Yilmaz Y., Karaman V., Yesil Sayin G., et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY , vol.46, no.3, 2024 (SCI-Expanded)

2024

7. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants

Kilic M. A., Yildiz E., Deniz A., Coskun O., Kurekci F., Avci R., et al.

PEDIATRIC NEUROLOGY , vol.152, pp.189-195, 2024 (SCI-Expanded)

2024

8. **Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy**

YÜCESAN E., GÖNCÜ B. S., ÖZGÜL C., Kebapci A., Aslanger A. D., Akyuz E., et al.

INTERNATIONAL JOURNAL OF NEUROSCIENCE , vol.134, no.10, pp.1098-1103, 2024 (SCI-Expanded)

2023

9. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Maroofian R., Kaiyrzhanov R., Cali E., Zamani M., Zaki M. S., Ferla M., et al.

BRAIN , vol.146, no.12, pp.5031-5043, 2023 (SCI-Expanded)

2023

10. Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11

Uzunyayla-Inci G., KIYKIM E., ZÜBARİOĞLU T., YEŞİL SAYIN G., AKTUĞLU ZEYBEK A. Ç.

Molecular Syndromology , vol.14, no.5, pp.428-432, 2023 (SCI-Expanded)

2023

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 : a journal of neurology , 2023 (SCI-Expanded)

2023

12. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Accogli A., Zaki M. S., Al-Owain M., Otaif M. Y., Jackson A., Argilli E., et al.

BRAIN COMMUNICATIONS , no.5, 2023 (ESCI)

2023

13. A novel RNPC3 gene variant expands the phenotype in patients with congenital hypopituitarism and neuropathy

Abali Z. Y., Ili E. G., Baş F., Ozkan M. U., Güleç Ç., Toksoy G., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.97, no.2, pp.157-164, 2023 (SCI-Expanded)

2023

14. **A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)**

Demir S., Alavanda C., YEŞİL SAYIN G., ASLANGER A. D., ARSLAN ATEŞ E.

MOLECULAR SYNDROMOLOGY , vol.14, no.2, pp.175-180, 2023 (SCI-Expanded)

2023

15. A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings.

Yildiz M., Onal Z., Yesil G., Kabil T. G., Toksoy G., Poyrazoglu Ş., et al.

Journal of clinical research in pediatric endocrinology , 2023 (SCI-Expanded)

2023

16. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Saida K., Maroofian R., Sengoku T., Mitani T., Pagnamenta A. T., Marafi D., et al.

Genetics in Medicine , vol.25, no.1, pp.90-102, 2023 (SCI-Expanded)

2023

17. Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye

ASLANGER A. D., GÜLEÇ Ç., KALAYCI T., Sengenc E., Avci S., Altunoglu U., et al.

MEDICAL JOURNAL OF BAKIRKOY , vol.19, no.2, pp.222-228, 2023 (ESCI)

2023

18. The effect of hereditary thrombotic factors and comorbidities on the severity of COVID-19 disease

Kose M., Senkal N., Konyaoglu H., Emet A., Oyaci Y., PEHLİVAN S., et al.

EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES , vol.27, no.1, pp.395-403, 2023 (SCI-Expanded)

2023

19. ASSOCIATING eNOS GENE VARIANTS WITH COVID-19 SUSCEPTIBILITY IN THE TURKISH POPULATION

Şenkal N., Oyaci Y., Cebeci T., Konyaoğlu H., Köse M., Önel M., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , vol.86, no.1, pp.1-6, 2023 (ESCI, TRDizin)

2022

20. A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.

Yeter B., Dilruba Aslanger A. D., Yesil G., Elcioglu N. H.

Journal of clinical research in pediatric endocrinology , vol.14, no.4, pp.475-480, 2022 (SCI-Expanded)

2022

21. Phenotypic continuum of NFU1-related disorders

Kaiyrzhanov R., Zaki M. S., Lau T., Sen S., Azizimalamiri R., Zamani M., et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY , vol.9, no.12, pp.2025-2035, 2022 (SCI-Expanded)

2022

22. CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE

Aslanger A. D., Kalaycı T., Konur E. N., Güleç Ç., Avcı Ş., Altunoğlu U., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , vol.85, no.4, pp.501-510, 2022 (Scopus)

2022

23. Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.

Dedeoglu S., Dede E., Oztunc F., Gedikbasi A., Yesil G., Dedeoglu R.

Orphanet journal of rare diseases , vol.17, no.1, pp.359, 2022 (SCI-Expanded, Scopus)

2022

24. Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results

Ozturk A. P., Aslanger A., Ozturan E. K., Konur E. N., Gulec C., Karaman V., et al.

HORMONE RESEARCH IN PAEDIATRICS , no.SUPPL 2, pp.313, 2022 (SCI-Expanded)

2022

25. A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy

Bezen D., Kutlu O., Mouilleron S., Rizzoti K., Dattani M., GÜRAN T., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.188, no.9, pp.2701-2706, 2022 (SCI-Expanded)

2022

26. **Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology**

ÖZTÜRK A. P., TOKSOY G., BAŞ F., Abali Z. Y., Bagirova G., KARAMAN V., et al.

HORMONE RESEARCH IN PAEDIATRICS , no.SUPPL 2, pp.91-92, 2022 (SCI-Expanded)

2022

27. Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings

Tanriverdi U., SER M. H., Yesil G., GÜNDÜZ A., ÖZKARA Ç., Kiziltan M. E.

PARKINSONISM & RELATED DISORDERS , vol.99, pp.73-75, 2022 (SCI-Expanded)

2022

28. Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability

Aslanger A. D., GÖNCÜ B. S., Duzenli O. F., YÜCESAN E., Sengenc E., Yesil G.

JOURNAL OF HUMAN GENETICS , vol.67, no.5, pp.279-284, 2022 (SCI-Expanded)

2022

29. **Investigation of MBL2 and NOS3 functional gene variants in suspected COVID-19 PCR (-) patients.**

Pehlivan S., Köse M., Mese S., Serin I., Senkal N., Oyacı Y., et al.

Pathogens and global health , vol.116, no.3, pp.178-184, 2022 (SCI-Expanded, Scopus)

2022

30. Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.

Turgut G. T., Altunoglu U., Sivrikoz T. S., Toksoy G., Kalayci T., Avci S., et al.

Clinical genetics , vol.101, no.4, pp.421-428, 2022 (SCI-Expanded, Scopus)

2022

31. Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

KOCAMIŞ B., Baser D., Akcam B., Danielson J., Eltan S. B., Haliloglu Y., et al.

ALLERGY , vol.77, no.3, pp.1004-1019, 2022 (SCI-Expanded, Scopus)

2022

32. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

TÜYSÜZ B., Elkanova L., Uludağ Alkaya D., Güleç Ç., TOKSOY G., Güneş N., et al.

Bone , vol.155, 2022 (SCI-Expanded, Scopus)

2022

33. Clinical and molecular findings in 6 Turkish cases with Krabbe disease

Aslanger A. D., Şengenç E., Kölemen A. B., Demiral E., ALKAN A., İşcan A., et al.

Turkish Journal of Pediatrics , vol.64, no.1, pp.69-78, 2022 (SCI-Expanded)

2021

34. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

ÇİÇEK D., Warr N., Yesil G., Eker H. K., Bas F., Poyrazoglu Ş., et al.

European journal of endocrinology , vol.186, no.1, pp.65-72, 2021 (SCI-Expanded)

2021

35. Is There a Link between Circadian Clock Protein PERIOD 3 (PER3) (rs57875989) Variant and the Severity of COVID-19 Infection?

Yesil Sayin G., Pehlivan S., Serin I., Medetalibeyoglu A., Kose M., Agacfidan A., et al.

Current medical science , vol.41, no.6, pp.1075-1080, 2021 (Scopus)

2021

36. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1

ULUDAĞ ALKAYA D., Lissewski C., Yesil G., Zenker M., TÜYSÜZ B.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, no.12, pp.3623-3633, 2021 (SCI-Expanded)

2021

37. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Mitani T., Isikay S., Gezdirici A., Gulec E. Y., Punetha J., Fatih J. M., et al.

American journal of human genetics , vol.108, no.10, pp.1981-2005, 2021 (SCI-Expanded)

2021

38. Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.

Tüysüz B., Alp Ünkar Z., Turan H., Gezdirici A., Uludağ Alkaya D., Kasap B., et al.

European journal of medical genetics , vol.64, no.12, pp.104346, 2021 (SCI-Expanded)

2021

39. Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

Kolemen A. B., Akyuz E., TOPRAK A., Deveci E., YEŞİL SAYIN G.

ORPHANET JOURNAL OF RARE DISEASES , vol.16, no.1, 2021 (SCI-Expanded)

2021

40. Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

Gunes N., Gunes N., Yesil G., YEŞİL G., Geyik F., Geyik F., et al.

ANNALS OF HUMAN GENETICS , vol.85, pp.155-165, 2021 (SCI-Expanded)

2021

41. **Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals**

ÇİÇEK D., Warr N., Yesil G., Eker H. K., Bas F., Poyrazoglu Ş., et al.

HORMONE RESEARCH IN PAEDIATRICS , no.SUPPL 1, pp.92, 2021 (SCI-Expanded)

2021

42. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Rustemoglu B. S., Samancı B., Tepgec F., Kürtüncü M., Altunoglu U., Gündüz T., et al.

TURKISH JOURNAL OF NEUROLOGY , vol.27, no.3, pp.240-247, 2021 (ESCI, Scopus, TRDizin)

2021

43. Strong mesangial IgA staining-does it always refer to IgA nephropathy in a patient with proteinuria and hematuria? Questions

ALTUN İ., SAYGILI S. K., CANPOLAT N., Ozluk Y., Hurdogan O., YEŞİL SAYIN G., et al.

PEDIATRIC NEPHROLOGY , vol.36, no.7, pp.2039-2041, 2021 (SCI-Expanded)

2021

44. Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency

Shafer S., Yao Y., Comrie W., Cook S., Zhang Y., Yesil G., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , vol.148, no.1, pp.256-263, 2021 (SCI-Expanded)

2021

45. Strong mesangial IgA staining-does it always refer to IgA nephropathy in a patient with proteinuria and hematuria? Answers

Altun I., SAYGILI S. K., CANPOLAT N., Ozluk Y., Hurdogan O., YEŞİL SAYIN G., et al.

PEDIATRIC NEPHROLOGY , vol.36, no.7, pp.2043-2045, 2021 (SCI-Expanded)

2021

46. Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum

Tuysuz B., Gunes N., Geyik F., Yesil G., Celkan T., VURAL Z. M.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, no.6, pp.1721-1731, 2021 (SCI-Expanded)

2021

47. A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia

KARA B., KARA B., Gul S., Gul S., Gunes A. S., Gunes A. S., et al.

JOURNAL OF PEDIATRIC NEUROLOGY , vol.19, no.03, pp.180-182, 2021 (ESCI)

2021

48. FAMILIAL ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH POSITIVE p.S1191L (c.3572C > T) MUTATION ON THE CFH GENE: A SINGLE-CENTER EXPERIENCE

Dursun E. F., Dursun E. F., Yesil G., YEŞİL SAYIN G., Sasak G., Sasak G., et al.

BALKAN JOURNAL OF MEDICAL GENETICS , vol.24, no.1, pp.81-87, 2021 (SCI-Expanded)

2021

49. Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection.

Medetalibeyoglu A., Bahat G., Senkal N., Kose M., Avcı K., Sayın G., et al.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , vol.89, pp.104717, 2021 (SCI-Expanded, Scopus)

2021

50. CAUSE OF RECURRENT RHABDOMYOLYSIS, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY AND NOVEL PATHOGENIC MUTATION

Cakar N. E., Gor Z., YEŞİL SAYIN G.

IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE , vol.74, no.3-4, pp.135-138, 2021 (SCI-Expanded)

2021

51. Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients

Öğülür İ., ÖĞÜLÜR İ., Ertuzun T., Ertuzun T., Kocamış B., KOCAMIŞ B., et al.

PEDIATRIC ALLERGY AND IMMUNOLOGY , vol.32, no.2, pp.349-357, 2021 (SCI-Expanded)

2020

52. Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature

Aslanger A. D., Demiral E., Sonmez-Sahin S., Guler S., Goncu B., Yucesan E., et al.

NEUROPEDIATRICS , vol.51, no.06, pp.430-434, 2020 (SCI-Expanded)

2020

53. Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy

YÜCESAN E., Goncu B. S., Aslanger A., Ozgul C., Hasanoglu S., Yesil G.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.28, no.SUPPL 1, pp.344-345, 2020 (SCI-Expanded)

2020

54. Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort

BARIŞ H. E., Ogulur I., Akcam B., KIYKIM A., Karagoz D., SARAYMEN B., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE , vol.8, no.10, pp.3525-3535, 2020 (SCI-Expanded)

2020

55. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Gonzaga-Jauregui C., Yesil G., Nistala H., Gezdirici A., Bayram Y., Nannuru K. C., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.28, no.9, pp.1243-1264, 2020 (SCI-Expanded)

2020

56. Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

ZÜBARİOĞLU T., YALÇINKAYA C., Oruc C., KIYKIM E., CANSEVER M. Ş., Gezdirici A., et al.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS , vol.55, no.3, pp.290-298, 2020 (ESCI)

2020

57. Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1

KARA B., SARIKAYA C., Bayrak Y. E., Gunes A. S., GÜNGÖR M., YEŞİL SAYIN G.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY , vol.80, pp.181-182, 2020 (SCI-Expanded)

2020

58. **A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature**

Kardelen Al A. D., Al A. D. K., Poyrazoglu S., Poyrazoǧlu Ş., Aslanger A., Aslanger A. D., et al.

HORMONE RESEARCH IN PAEDIATRICS , no.6, pp.395-403, 2020 (SCI-Expanded)

2020

59. A CASE OF SOTOS SYNDROME CAUSED BY A NOVEL VARIANT IN THE NSD1 GENE: A PROPOSED RATIONALE TO TREAT ACCOMPANYING PRECOCIOUS PUBERTY

Ozcabi B., Akay G., YEŞİL SAYIN G., Yalcin E. U., Kirmizibekmez H.

ACTA ENDOCRINOLOGICA-BUCHAREST , vol.16, no.2, pp.245-249, 2020 (SCI-Expanded)

2020

60. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers

Abali Z. Y., Yavas A., Yesil G., Yesil G., Kirkgoz T., Kirkgoz T., et al.

PEDIATRIC NEPHROLOGY , vol.35, no.3, pp.405-407, 2020 (SCI-Expanded)

2020

61. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions

Yavas A., Abali Z. Y., Yesil G., Yesil G., Kirkgoz T., Kirkgoz T., et al.

PEDIATRIC NEPHROLOGY , vol.35, no.3, pp.403-404, 2020 (SCI-Expanded)

2020

62. Vanishing white matter disease with different faces

Güngör G., Gungor G., Güngör O., Gungor O., Çakmaklı S., Cakmakli S., et al.

CHILDS NERVOUS SYSTEM , vol.36, no.2, pp.353-361, 2020 (SCI-Expanded)

2020

63. A rare cause of hypertension in childhood: Answers

Kucuk N., Kucuk N., Abali Z. Y., Yavas A., ABALI S., Abalı S., et al.

PEDIATRIC NEPHROLOGY , vol.35, no.1, pp.79-82, 2020 (SCI-Expanded)

2020

64. A rare cause of hypertension in childhood: Questions

Kucuk N., Kucuk N., Abali Z. Y., Yavas A., ABALI S., Abali S., et al.

PEDIATRIC NEPHROLOGY , vol.35, no.1, pp.77-78, 2020 (SCI-Expanded)

2019

65. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Karaca E., Karaca E., Posey J. E., Posey J. E., Bostwick B., Bostwick B., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.179, no.10, pp.2056-2066, 2019 (SCI-Expanded)

2019

66. Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene

Celikboya E., Celikboya E., Cansever M. S., Cansever M. S., Zubarioglu T., Zubarioglu T., et al.

HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI , vol.57, no.3, pp.328-331, 2019 (ESCI)

2019

67. Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey

Zubarioglu T., Zubarioglu T., Kiykim E., Kiykim E., YEŞİL G., YEŞİL G., et al.

ACTA NEUROLOGICA BELGICA , vol.119, no.3, pp.343-350, 2019 (SCI-Expanded)

2019

68. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A., Jolly A., Bayram Y., Bayram Y., DEMİRCİOĞLU S., Turan S., et al.

The Journal of clinical endocrinology and metabolism , vol.104, no.8, pp.3049-3067, 2019 (SCI-Expanded)

2019

69. Novel PTCH1 Gene Mutation in a Patient with Gorlin-Goltz Syndrome

Ozlu E., KARADAĞ A. S., AKALIN İ., Yesil G., Yilmaz S., Zindanci I., et al.

ANNALS OF DERMATOLOGY , vol.31, 2019 (SCI-Expanded)

2019

70. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Pehlivan D., Pehlivan D., Bayram Y., Bayram Y., Gunes N., Gunes N., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , vol.105, no.1, pp.132-150, 2019 (SCI-Expanded)

2019

71. A Case with Laron Syndrome

Özgen İ. T., ÖZGEN İ. T., Kutlu E., Kutlu E., Cesur Y., CESUR Y., et al.

BEZMIALEM SCIENCE , vol.7, no.3, pp.251-254, 2019 (ESCI)

2019

72. PATIENT WITH INTERMITTENT POSTURE ABNORMALITY: AN ALEXANDER DISEASE CASE REPORT

İÇAĞASIOĞLU D. F., İÇAĞASIOĞLU D. F., İŞCAN A., Iscan A., ARALAŞMAK A., Aralasmak A., et al.

ARCHIVES OF DISEASE IN CHILDHOOD , vol.104, 2019 (SCI-Expanded)

2019

73. CYTOCHROME P450 OXIDOREDUCTASE ENZYME DEFICIENCY: A CASE REPORT

Ozgen I. T., Kutlu E., Nursoy H., Cesur Y., YEŞİL SAYIN G.

ARCHIVES OF DISEASE IN CHILDHOOD , vol.104, 2019 (SCI-Expanded)

2019

74. Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature

Abali Z. Y., Abali Z. Y., Yesil G., YEŞİL G., Kirkgoz T., KIRKGÖZ T., et al.

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM , vol.18, no.2, pp.229-236, 2019 (SCI-Expanded)

2019

75. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Rad A., Rad A., Altunoglu U., Altunoglu U., Miller R., Miller R., et al.

JOURNAL OF MEDICAL GENETICS , vol.56, no.5, pp.332-339, 2019 (SCI-Expanded)

2019

76. PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans

GÜRAN T., YEŞİL G., Turan S., Atay Z., BOZKURTLAR E., Aghayev A., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , vol.180, no.5, pp.291-309, 2019 (SCI-Expanded)

2019

77. Pseudohypoparathyroidism Type Ia with Normocalcemia

Kutlu E., Kutlu E., Özgen İ. T., ÖZGEN İ. T., CESUR Y., Cesur Y., et al.

BEZMIALEM SCIENCE , vol.7, no.2, pp.170-173, 2019 (ESCI)

2019

78. Mide Kanseri ve Genetik.

Yeşil G.

Turkiye Klinikleri Medical Oncology-Special Topic , vol.12, no.2, pp.17-23, 2019 (Peer-Reviewed Journal)

2019

79. Correlation Between DTI Findings and Volume of Corpus Callosum in Children with Autism

Temur H. O., Temur H. O., YURTSEVER İ., YURTSEVER İ., YEŞİL G., Yesil G., et al.

CURRENT MEDICAL IMAGING , vol.15, no.9, pp.895-899, 2019 (SCI-Expanded)

2018

80. Phenotypic expansion illuminates multilocus pathogenic variation.

Karaca E., Karaca E., Posey J. E., Posey J., Akdemir Z. C., Coban A., et al.

Genetics in medicine : official journal of the American College of Medical Genetics , vol.20, pp.1528-1537, 2018 (SCI-Expanded)

2018

81. Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.

Bektas G., Bektas G., YEŞİL G., YEŞİL G., Ozkan M. U., Ozkan M. U., et al.

Clinical neurology and neurosurgery , vol.171, pp.190-193, 2018 (SCI-Expanded)

2018

82. Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Yesil G., YEŞİL G., ARALAŞMAK A., Aralasmak A., Akyuz E., Akyuz E., et al.

BALKAN MEDICAL JOURNAL , vol.35, no.4, pp.336-339, 2018 (SCI-Expanded)

2018

83. Mucolipidosis type III gamma: Three novel mutation and genotype phenotype study in eleven patients

Tuysuz B., Tüysüz B., Kasapcopur O., Kasapçopur Ö., Alkaya D. U., Alkaya D. U., et al.

GENE , vol.642, pp.398-407, 2018 (SCI-Expanded)

2018

84. Familial amyloid polyneuropathy due to p.ALA140 ser mutation

Gürsoy A., GÜRSOY A. E., YEŞİL G., Yeşil G., ERGÜN S., ERGÜN S., et al.

Neurology India , vol.66, no.1, pp.238-241, 2018 (SCI-Expanded)

2018

85. Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation

Abali Z. Y., YEŞİL G., KIRKGÖZ T., KAYGUSUZ S. B., Turan S., BEREKET A., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.132, 2018 (SCI-Expanded)

2018

86. Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

YILDIZ E. P., Yildiz E., YEŞİL G., YEŞİL G., BEKTAS G., Bektas G., et al.

Clinical neurology and neurosurgery , vol.164, pp.47-49, 2018 (SCI-Expanded)

2018

87. Two Siblings with Alstrom Syndrome

Cebeci A. N., Cebeci A. N., YEŞİL G., Yesil G., Ekici B., Ekici B.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.455, 2018 (SCI-Expanded)

2018

88. Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1

Gunes N., Gunes N., YEŞİL G., YEŞİL G., Beng K., Beng K., et al.

MOLECULAR SYNDROMOLOGY , vol.9, no.3, pp.134-140, 2018 (SCI-Expanded)

2018

89. An 18 Month Old Boy with Hypoglycemic Convulsion and Obesity Due to POMC Deficiency

KAYGUSUZ S. B., KAYGUSUZ S. B., Yesil G., YEŞİL G., KIRKGÖZ T., Kirkgoz T., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.514, 2018 (SCI-Expanded)

2018

90. The Contribution of DTI in Determining the Relationship of Epilepsy and Brain Lesions in Children with Tuberous Sclerosis

Kurtcan S., Kurtcan S., Alkan A., ALKAN A., Guler S., GULER S., et al.

CURRENT MEDICAL IMAGING REVIEWS , vol.14, no.3, pp.401-406, 2018 (SCI-Expanded)

2017

91. Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

GULER S., Güler S., YEŞİL G., YESIL G., ÖNAL H., ÖNAL H.

Balkan medical journal , vol.34, pp.522-526, 2017 (SCI-Expanded)

2017

92. A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.

YILDIZ E., YILDIZ E. P., YEŞİL G., YESIL G., OZKAN M. U., OZKAN M. U., et al.

Seizure , vol.51, pp.77-79, 2017 (SCI-Expanded)

2017

93. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Bektas G., Bektas G., Yesil G., YEŞİL G., Yildiz E., Yildiz E. P., et al.

The Turkish journal of pediatrics , vol.59, no.3, pp.329-334, 2017 (SCI-Expanded)

2017

94. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A., Stray-Pedersen A., Sorte H. S., Sorte H., Samarakoon P., Samarakoon P., et al.

The Journal of allergy and clinical immunology , vol.139, pp.232-245, 2017 (SCI-Expanded)

2017

95. A case with Rubinstein–Taybi syndrome: A novel frameshift mutation in the CREBBP gene

Eser M., Eser M., Ayaz A., Ayaz A., Yeşil G., YEŞİL G.

Turkish Journal of Pediatrics , vol.59, no.5, pp.601-603, 2017 (SCI-Expanded)

2016

96. Cytogenetic analysis of 65 women with premature ovarian insufficiency Prematür Over Yetmezliği Tanısı Alan 65 Kadında Genetik Analiz Sonuçları

ATEŞ S., ATEŞ S., ÖZCAN P., ÖZCAN P., YEŞİL G., Yeşil G.

Journal of Clinical and Analytical Medicine , vol.7, no.5, pp.630-633, 2016 (ESCI)

2016

97. Microcephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients

Kayserili H., Kayserili H., Altunoglu U., Altunoglu U., YEŞİL G., Yesil G., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.170, no.6, pp.1391-1399, 2016 (SCI-Expanded)

2016

98. ASSOCIATION BETWEEN MIGRAINE AND ALLERGIC RHINITIS IN CHILDHOOD AND ADOLESCENCE

Guler S., Guler S., Sakalli E., Sakalli E., YEŞİL G., YEŞİL G.

NOBEL MEDICUS , vol.12, no.2, pp.26-30, 2016 (ESCI)

2016

99. MRI and MRS findings in fucosidosis; a rare lysosomal storage disease

Ediz S. S., EDIZ S. S., Aralasmak A., Aralasmak A., YILMAZ T. F., YILMAZ T. F., et al.

Brain and Development , vol.38, no.4, pp.435-438, 2016 (SCI-Expanded)

2016

100. Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

Kiykim A., Kiykim A., GARNCARZ W., Garncarz W., Karakoc-Aydiner E., Karakoc-Aydiner E., et al.

CLINICAL IMMUNOLOGY , vol.165, pp.1-3, 2016 (SCI-Expanded)

2016

101. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Harel T., YEŞİL G., Bayram Y., Coban-Akdemir Z., Charng W., Karaca E., et al.

American Journal of Human Genetics , vol.98, no.3, pp.562-570, 2016 (SCI-Expanded)

2016

102. Two different mutations of gli3 gene in two different syndromes

Candan S., CANDAN S., YEŞİL G., Yesil G., SENDALKIRAN E., Sendalkiran E., et al.

Genetic Counseling , vol.27, no.4, pp.519-524, 2016 (SCI-Expanded)

2016

103. Sleep disturbances and serum vitamin D levels in children with autism spectrum disorder

Guler S., GULER S., YEŞİL G., YEŞİL G., Ozdil M., Ozdil M., et al.

INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE , vol.9, no.7, pp.14691-14697, 2016 (SCI-Expanded)

2015

104. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Karaca E., Karaca E., Harel T., Harel T., Pehlivan D., Pehlivan D., et al.

NEURON , vol.88, no.3, pp.499-513, 2015 (SCI-Expanded)

2015

105. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

YUAN B., Yuan B., PEHLIVAN D., Pehlivan D., KARACA E., Karaca E., et al.

JOURNAL OF CLINICAL INVESTIGATION , vol.125, no.2, pp.636-651, 2015 (SCI-Expanded)

2015

106. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

Bayram Y., Bayram Y., Gulsuner S., Gulsuner S., Guran T., GÜRAN T., et al.

Journal of Clinical Endocrinology and Metabolism , vol.100, no.5, 2015 (SCI-Expanded)

2015

107. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Simons C., Simons C., Rash L. D., Rash L., Crawford J., Crawford J., et al.

Nature genetics , vol.47, pp.73-7, 2015 (SCI-Expanded)

2014

108. Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls

ATEŞ S., ATES S., YESIL G., Yesil G., ŞEVKET O., Sevket O., et al.

Maturitas , vol.79, no.3, pp.306-310, 2014 (SCI-Expanded)

2014

109. Prevalence of X-aneuploidies, X-structural abnormalities and 46, XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency

GECKINLI B. B., GEÇKİNLİ B. B., TOKSOY G., Toksoy G., SAYAR C., SAYAR C., et al.

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY , vol.182, pp.211-215, 2014 (SCI-Expanded, Scopus)

2014

110. Stuve-Wiedemann Syndrome: Is it Underrecognized?

YEŞİL G., Yesil G., Lebre A. S., Lebre A. S., Dos Santos S., Dos Santos S., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.164, no.9, pp.2200-2205, 2014 (SCI-Expanded)

2014

111. Human CLP1 mutations alter tRNA biogenesis, Affecting both peripheral and central nervous system function

KARACA E., Karaca E., Weitzer S., WEITZER S., PEHLIVAN D., Pehlivan D., et al.

Cell , vol.157, no.3, pp.636-650, 2014 (SCI-Expanded)

2014

112. The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children

Seven M., Seven M., Batar B., Batar B., Unal S., Unal S., et al.

Molecular Biology Reports , vol.41, no.1, pp.331-336, 2014 (SCI-Expanded)

2014

113. Report of a patient with Temple-Baraitser syndrome

YEŞİL G., YESIL G., Guler S., Guler S., Yuksel A., YUKSEL A., et al.

American Journal of Medical Genetics, Part A , vol.164, no.3, pp.848-851, 2014 (SCI-Expanded)

2014

114. The effect of genetic polymorphisms of cytochrome P450 CYP2C9, CYP2C19, and CYP2D6 on drug-resistant epilepsy in Turkish children

Seven M., Seven M., Batar B., Batar B., Unal S., Unal S., et al.

Molecular Diagnosis and Therapy , vol.18, no.2, pp.229-236, 2014 (SCI-Expanded)

2013

115. Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients

Santen G. W., Aten E., Vulto-van Silfhout A. T., Pottinger C., van Bon B. W., van Minderhout I. J., et al.

Human Mutation , vol.34, no.11, pp.1519-1528, 2013 (SCI-Expanded)

2013

116. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Iida A., Iida A., Simsek-Kiper P. O., Simsek-Kiper P. O., Mizumoto S., Mizumoto S., et al.

HUMAN MUTATION , vol.34, no.10, pp.1381-1386, 2013 (SCI-Expanded)

2013

117. Congenital agenesis of scrotum and labia majora in siblings

SILAY M. S., Silay M. S., Yesil G., Yesil G., Yildiz K., Yildiz K., et al.

Urology , vol.81, no.2, pp.421-423, 2013 (SCI-Expanded)

2013

118. Ön Beyin Anomalileri ve Genetik Nedenleri.

Yeşil G.

Turkiye Klinikleri Pediatric Sciences-Special Topics, , vol.9, no.4, pp.6-12, 2013 (Peer-Reviewed Journal)

2012

119. A giant ovarian cyst in a neonate with classical 21-hydroxylase deficiency with very high testosterone levels demonstrating a high-dose hook effect

GÜRAN T., GÜRAN T., Yesil G., Yeşil G., Guran O., Güran Ö., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , vol.4, no.3, pp.151-153, 2012 (SCI-Expanded)

2012

120. An infant with spinal muscular atrophy and tetrology of Fallot

Ekici B., Ekici B., Demir I. H., Demir I. H., Ocak S., Ocak S., et al.

CLINICAL NEUROLOGY AND NEUROSURGERY , vol.114, no.7, pp.1033-1034, 2012 (SCI-Expanded)

2012

121. A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: Coincidence or a new entity?

Yalcinkaya C., Yalcinkaya C., Erturk O., Erturk O., Tuysuz B., Tuysuz B., et al.

Neuropediatrics , vol.43, no.3, pp.159-161, 2012 (SCI-Expanded)

2011

122. Restrictive dermopathy in a Turkish newborn

Yesil G., Yesil G., Hatipoglu I., Hatipoglu I., Esteves-Vieira V., Esteves-Vieira V., et al.

Pediatric Dermatology , vol.28, no.4, pp.408-411, 2011 (SCI-Expanded)

2009

123. Thiamine-responsive megaloblastic anemia: Early diagnosis may be effective in preventing deafness

ONAL H., Onal H., Baris S., Baris S., Ozdil M., Ozdil M., et al.

Turkish Journal of Pediatrics , vol.51, no.3, pp.301-304, 2009 (SCI-Expanded)

2007

124. Evaluation of mental retardation - Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation

Yüksel A., Yüksel A., Kayserili H., Kayserili H., Yeşil G., Yeşil G., et al.

Journal of Pediatric Neurosciences , vol.2, no.2, pp.53-57, 2007 (ESCI)

2007

125. Evaluation of mental retardation - Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation

Yüksel A., Yüksel A., Kayserili H., Kayserili H., Yeşil G., Yeşil G., et al.

Journal of Pediatric Neurosciences , vol.2, no.2, pp.45-52, 2007 (ESCI)

2007

126. Warburg Micro syndrome in a Turkish boy

Yueksel A., Yueksel A., Yesil G., Yesil G., Aras C., Aras C., et al.

Clinical Dysmorphology , vol.16, no.2, pp.89-93, 2007 (SCI-Expanded)

2006

127. Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency

Yuksel A., Yuksel A., Seven M., Seven M., Cetincelik U., Cetincelik Ü., et al.

Pediatric Neurology , vol.34, no.6, pp.486-489, 2006 (SCI-Expanded)

2006

128. Proteus syndrome with agenesis of the rectus abdominis [15]

Fenerci E. Y., Fenerci E. Y., Degirmenci S., Degirmenci S., Yesil G., Yesil G., et al.

British Journal of Dermatology , vol.155, no.5, pp.1094-1095, 2006 (SCI-Expanded)

Papers Presented at Peer-Reviewed Scientific Conferences

2024

1. Ekzom Dizileme Verilerinde Saptanan Kopya Sayısı Değişikliklerinin Tanısal Katkısı: Tek Merkez Deneyimi

Yücesoy M. A., Akbaş S., Konur E. N., Durmaz D., Memiş G., Özden S. T., et al.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.197, (Summary Text)

2024

2. Step-by-Step Genetic Insight into a Case of Growth Retardation

Tekin A., TOKSOY G., KINA B. G., ASLANGER A. D., KARAMAN B., SELÇUK B. Ş., et al.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Germany, 1 - 04 June 2024, vol.32, pp.1559, (Summary Text)

2024

3. Two cases of HDR syndrome due to a large deletion in the 10p15.3p14 region

Memiş G., Arslan H. K., Akbaş S., Aslanger A. D., Yeşil Sayın G., Yavuz S., et al.

European Human Genetics Conference 2024, Berlin, Germany, 1 - 04 June 2024, pp.1, (Full Text)

2024

4. Unraveling the complexity of Phelan-McDermid syndrome: A multifaceted exploration of clinical and molecular/cytogenetic findings in four cases

Yücesoy M. A., Akbaş S., Memiş G., Konur E., Durmaz D., Karaman V., et al.

European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1, (Full Text)

2024

5. The complexity of Phelan-McDermid syndrome: A multifaceted exploration of clinical and molecular/cytogenetic findings in four cases.

Yücesoy M. A., Akbaş S., Memiş G., Konur Akbaş E. N., Durmaz D., Karaman V., et al.

European Society of Genetics Conference 2024, Berlin, Germany, 1 - 04 June 2024, (Summary Text)

2024

6. Step-by-Step Genetic Insight into a Case of Growth Retardation (POSTER ID P13.067.A)

Tekin A., Toksoy G., Kına B. G., Karaman B., Özsait Selçuk B. Ş., Güleç Ç., et al.

European Society of Human Genetics Congress 2024, Berlin, Germany, 01 June 2024, (Summary Text)

2024

7. Gross deletion in KIF11: A de novo occurrence

Şentürk H., Erarslan S. B., Akbaş S., Uygur Şahin T., Aslanger A. D., Karaman V., et al.

European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1, (Full Text)

2023

8. DNAJC21 GENİ İLİŞKİLİ ÇOK NADİR BİR KALITSAL KEMİK İLİĞİ YETMEZLİĞİ

ÜNÜVAR A., YILMAZ Y., ŞAHİN Ş., TANYILDIZ H. G., TUĞCU D., KARAMAN S., et al.

14. Ulusal Pediatrik Hematoloji Kongresi, Ankara, Turkey, 24 May 2023, (Summary Text)

2023

9. Undiagnosed arthrogryposis: further expanding the molecular and phenotypic spectrum

Turgut G. T., Altunoğlu U., Saraç Sivrikoz T., Kalaycı T., Toksoy G., Avcı Ş., et al.

European Human Genetics Conference, Glasgow, England, 10 - 13 June 2023, vol.31, pp.101, (Summary Text)

2023

10. PIEZO1 İlişkili Dehidrate Herediter Stomasitoz-Herediter Kserositoz: Olgu Sunumu

Konur E. N., Aslanger A. D., Ocak S., Karaman V., Uyguner Z. O., Yeşil Sayın G.

2. Ulusal HematoOnkoGenetik Kongresi , Gazimagusa, Cyprus (Kktc), 4 - 07 May 2023, pp.90, (Summary Text)

2023

11. Ekzom Verilerinin Yeniden Analizinde Saptanan DNAJC21 İlişkili Nadir Görülen Bir Kemik İliği Yetmezliği Sendromu

DURMAZ D., YILMAZ Y., KARAMAN V., ASLANGER A. D., YEŞİL SAYIN G., ÜNÜVAR A., et al.

2. Ulusal HematoOnkoGenetik Kongresi / K.K.T.C, BAFRA, Cyprus (Kktc), 4 - 07 May 2023, pp.107, (Summary Text)

2022

12. Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature

ÖZTÜRK A. P., ASLANGER A. D., KARAKILIÇ ÖZTURAN E., KONUR E. N., GÜLEÇ Ç., KARAMAN V., et al.

60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, Italy, 15 - 17 September 2022, pp.313, (Summary Text)

2022

13. Mikobakteriyel Enfeksiyona Mendeliyen Yatkınlıkla İlişkili Gen Varyantlarının Primer İmmün Yetmezlik Altgruplarında Analizi

Karacan A., Akbaş S., Yücel E., Aslanger A. D., Yeşil Sayın G., Toksoy G., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.171-172, (Summary Text)

2022

14. Osteogenezis Imperfekta Tanılı 15 Olgunun Moleküler Sonuçları

Hacer Ö., Aslanger A. D., Kalaycı T., Güleç Ç., Demir K., Toksoy G., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.149, (Summary Text)

2022

15. Frank-Ter Haar Sendromu Tanili 3 Olgu ve Literatür Derlemesi

Konur E. N., Aslanger A. D., Kalaycı T., Altunoğlu U., Karaman V., Yeşil Sayın G., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.91, (Summary Text)

2022

16. Fetal Dönemde Kontraktürler Ile Seyreden Fenotiplerin Moleküler Tanısında Tüm Ekzom Dizileme Analizinin Katkısı

Turgut G. T., Altunoğlu U., Güleç Ç., Kalaycı T., Saraç Sivrikoz T., Toksoy G., et al.

15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.85, (Summary Text)

2022

17. Gebelik Haftasına Göre Küçük Doğan (Sga) Çocuklarda Sebat Eden Boy Kısalığının Etiyolojisinin Genetik Analizler Ile Değerlendirilmesi

Karaman V., Aslanger A. D., Konur E. N., Öztürk A. P., Toksoy G., Özsait Selçuk B. Ş., et al.

15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.189, (Summary Text)

2022

18. Kurum-Içi “In-House” Genetik Veritabanında Acmg Tarafından Önerilen Taşıyıcılık Taraması Genlerinin ve Raporlanması Önerilen Ikincil Bulguların Incelenmesi

DURMAZ D., GÜLEÇ Ç., KARAMAN V., TOKSOY G., YEŞİL SAYIN G.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.117, (Summary Text)

2022

19. Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology

ÖZTÜRK A. P., TOKSOY G., BAŞ F., YAVAŞ ABALI Z., Bagirova G., KARAMAN V., et al.

60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, Italy, 15 September 2022, (Full Text)

2022

20. Electrophysiological analysis and clinical follow-up in two siblings with action myoclonus- renal failure syndrome

Tanriverdi U., Ser M., Yesil G., Gunduz A., Kiziltan M. E., Cigdem O.

8th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 25 - 28 June 2022, vol.29, pp.734, (Summary Text)

2021

21. Laboratory And In Sılıco Analysıs Of The Pathogenic Variant Of Interleukin-17 (Rs763780) In Patients Diagnosed Wıth Covid-19

Oyacı Y., Şenkal N., MEDETALİBEYOĞLU A., YEŞİL SAYIN G., KÖSE M., PEHLİVAN M., et al.

Vııı.International Congress Of Molecular Medicine, Turkey, 9 - 12 November 2021, pp.13-17, (Full Text)

2021

22. Covid-19 Tanısı Konulan Hastalarda İnterlökin-17'nin Patojenik Varyantının (Rs763780) Laboratuvar Ve Siliko Analizi

Oyacı Y., Şenkal N., Medetalibeyoğlu A., Yeşil Sayın G., Köse M., Pehlivan M., et al.

VIII.International Congress Of Molecular Medicine, İstanbul, Turkey, 9 - 12 November 2021, pp.10, (Full Text)

2021

23. COVID-19 PCR (-) Hastalarda Mbl2 Ve Nos3 Fonksiyonel Gen Varyantlarının Araştırılması

Pehlivan S., Köse M., Meşe S., Serin I., Şenkal N., Oyacı Y., et al.

Tıbbi Biyoloji ve Genetik Kongresi, İstanbul, Turkey, 28 - 31 October 2021, pp.105, (Summary Text)

2021

24. DNA ONARIM GEN VARYANTLARI (XRCC4 VE XRCC1) İLE COVİD-19 ENFEKSİYONU ARASINDA BİR BAĞLANTI OLABİLİR Mİ?

SERİN İ., KÖSE M., PEHLİVAN S., ŞENKAL N., PEHLİVAN M., MEDETALİBEYOĞLU A., et al.

47. Ulusal Hematoloji Kongresi, Turkey, 4 - 07 November 2021, pp.358, (Full Text)

2021

25. İLK TANI PCR (-) COVİD-19 HASTALARINDA MBL2 VE NOS3 FONKSİYONEL GEN VARYANTLARININ ARAŞTIRILMASI

SERİN İ., PEHLİVAN S., KÖSE M., MEŞE S., ŞENKAL N., OYACI Y., et al.

47. Ulusal Hematoloji Kongresi, Antalya, Turkey, 4 - 07 November 2021, pp.357, (Full Text)

2021

26. PERIOD 3 (PER3) (RS57875989) VARYANTI İLE COVİD-19 ENFEKSİYONUNUN ŞİDDETİ ARASINDA BİR BAĞLANTI OLABİLİR Mİ?

SERİN İ., PEHLİVAN S., KÖSE M., ŞENKAL N., OYACI Y., MEDETALİBEYOĞLU A., et al.

47. Ulusal Hematoloji Kongresi, Turkey, 4 - 07 November 2021, pp.379, (Full Text)

2021

27. Sık Enfeksiyon Geçirme ve Kalıcı Artropati ile Seyreden RIPK1 Mutasyonu Olgusu

YÜCEL E., HIZLI DEMİRKALE Z., dolu k. o., aslanger a., YEŞİL SAYIN G., Kavrul Kayaalp G., et al.

7. Klinik İmmünoloji Kongresi, Ankara, Turkey, 06 October 2021, pp.79-80, (Summary Text)

2021

28. Sitokrom P450 oksidoredüktaz eksikliğine bağlı konjenital adrenal hiperplazi hastalarının klinik ve laboratuvar özellikleri: Olgu serisi

Bayrak Demirel Ö., Baş F., Kalaycı T., Yıldız M., Konur E. N., Poyrazoğlu Ş., et al.

25. Ulusal Pediatrik Endokrinoloji Kongresi, Antalya, Turkey, 6 - 10 October 2021, pp.305-307, (Full Text)

2021

29. Dna Onarım Gen Varyantları (Xrcc4 Ve Xrcc1) İle Covıd-19 Enfeksiyonu Arasında Bir Bağlantı Olabilir Mi?

Köse M., Serin I., Pehlivan S., Şenkal N., Pehlivan M., Medetalibeyoğlu A., et al.

Euroasıa Summıt 4th Internatıonal Applıed Scıence Congress, Odessa, Ukraine, 10 - 11 September 2021, vol.1, no.1, pp.125-132, (Full Text)

2021

30. Primer Gonadal Yetmezliğin Etiyolojisinde Yeni ve Nadir Bir Neden: Transaldolaz Eksikliği

YILDIZ M., ÖNAL Z., SARBAN E., KABİL T. G., ASLANGER A. D., YEŞİL SAYIN G., et al.

10. Çocuk Endokrinolojisi Olgu, Turkey, 09 April 2021, pp.73, (Summary Text)

2021

31. Investigation of Functional Variants of the Endothelital Nitric Oxide Synthetase Gene (rs1799983 and Intron 4a / b VNTR) in COVID-19 Patients

Şenkal N., Oyacı Y., KÖSE M., MEDETALİBEYOĞLU A., YEŞİL SAYIN G., PEHLİVAN M., et al.

International Symposium On Global Pandemics And Multidisciplinary Covid-19 Studies, 19 - 20 March 2021, pp.1-7, (Full Text)

2021

32. COVID-19 Hastalarında Endotel Nitrik Oksit Sentetaz Geninin (rs1799983 ve Intron 4a/b VNTR) Fonksiyonel Varyantlarının Araştırılması

Şenkal N., Oyacı Y., Köse M., Medetalibeyoğlu A., Önel M., Yeşil Sayın G., et al.

International Symposium On Global Pandemics And Multidisciplinary Covid-19 Studies , Ankara, Turkey, 19 - 20 March 2021, pp.1-7, (Full Text)

2021

33. PRİMER GONADAL YETMEZLİĞİN ETİYOLOJİSİNDE YENİ VENADİR BİR NEDEN: TRANSALDOLAZ EKSİKLİĞİ

Yıldız M., Önal Z., Sarban E., Kabil T. G., Aslanger A., Yeşil G., et al.

Çocuk endokrinolojisi olgu sunumları-10, İzmir, Turkey, 09 April 2021, pp.73, (Summary Text)

2021

34. NÖROBLASTOM TANILI HASTADA ERKEN PUBERTE İLE TANI ALAN KONJENİTAL ADRENAL HİPERPLAZİ OLGUSU

SARBAN E., YILDIZ M., ÖZTÜRK A. P., KARAMAN S., YEŞİL G., POYRAZOĞLU Ş., et al.

Çocuk endokrinolojisi olgu sunumları-10, İzmir, Turkey, 09 April 2021, (Summary Text)

2021

35. BOY KISALIĞI İLE BAŞVURAN BİR OLGUDA AYIRICI TANI: İDİYOPATİK BOY KISALIĞI GERÇEK TANI MI?

KARAKILIÇ ÖZTURAN E., ÖZTÜRK A. P., ASLANGER A., YEŞİL G., SARBAN E., YILDIZ M., et al.

Çocuk endokrinolojisi olgu sunumları-10, İzmir, Turkey, 09 April 2021, (Summary Text)

2021

36. TBX19 MUTASYONUNA BAĞLI KONJENİTAL İZOLE ACTH EKSİKLİĞİ İLE BERABER SEKONDER HİPOTİRODİ, BH EKSİKLİĞİ VE HİPER IgE BENZERİ SENDROM BİRLİKTELİĞİ

ÖZTÜRK A. P., YÜCEL E., SARBAN E., KARAKILIÇ ÖZTURAN E., ASLANGER A., YEŞİL G., et al.

Çocuk endokrinolojisi olgu sunumları-10, İzmir, Turkey, 09 April 2021, (Summary Text)

2021

37. INVESTIGATION OF FUNCTIONAL VARIANTS OF THE ENDOTHELITAL NITRIC OXIDE SYNTHETASE GENE (rs1799983 AND INTRON 4a/b VNTR-27 BP) IN COVID-19 PATIENTS

ŞENKAL N., OYACI Y., KÖSE M., MEDETALİBEYOĞLU A., ÖNEL M., YEŞİL SAYIN G., et al.

International Symposium on Global Pandemics and Multidisciplinary Covid-19 Studies, Ankara, Turkey, 19 March 2021, (Full Text)

2021

38. Boy kısalığı ile başvuran bir olguda ayırıcı tanı: İdiyopatik boy kısalığı gerçek tanı mı

KARAKILIÇ ÖZTURAN E., ÖZTÜRK A. P., ASLANGER A. D., YEŞİL SAYIN G., SARBAN E., YILDIZ M., et al.

10. Çocuk Endokrinolojisi Olgu sunumları, Turkey, 09 April 2021, pp.119, (Summary Text)

2021

39. TBX19 mutasyonuna bağlı konjenital izole ACTH eksikliği ile beraber sekonder hipotirodi, BH eksikliği ve hiper IgE benzeri sendrom birlikteliği

ÖZTÜRK A. P., YÜCEL E., SABAN E., KARAKILIÇ ÖZTURAN E., ASLANGER A. D., YEŞİL SAYIN G., et al.

10. Çocuk Endokrinolojisi Olgu sunumları, Turkey, 09 April 2021, pp.110, (Summary Text)

2020

40. INVESTIGATION OF MBL2 AND NOS3 FUNCTIONAL GENE VARIANTS IN SUSPECTED COVID-19 PCR (-) PATIENTS:

PEHLİVAN S., KÖSE M., MEŞE S., serin i., Şenkal N., oyacı y., et al.

Eurosia Summit, Congress on Scientific Researches and Recent Trends-7, Baku, Azerbaijan, 6 - 09 December 2020, pp.21-26, (Full Text)

2020

41. INVESTIGATION OF MBL2 AND NOS3 FUNCTIONAL GENE VARIANTS IN SUSPECTED COVID-19 PCR (-) PATIENTS

PEHLİVAN S., KÖSE M., MEŞE S., SERİN İ., Şenkal N., Oyacı Y., et al.

EUROASIA Congress on Scientific Researches and Recent Trends-VII, Baku, Azerbaijan, 6 - 08 December 2020, vol.1, (Summary Text)

2020

42. A recurrent SMAD4 mutation causing familial Mhyre syndrome

DEMİR Ş., ARSLAN ATEŞ E., GEÇKİNLİ B. B., ASLANGER A. D., YEŞİL SAYIN G., ALAVANDA C., et al.

14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", 20 - 22 November 2020, vol.31, (Summary Text)

2020

43. Dirençli epilepsi olgularında atlanmaması gereken bir tanı: Konjenital glikozilasyon defektleri

Yıldırım B. T., Aslanger A. D., Şengenç E., Karaca M., Selamioğlu A., Yeşil Sayın G.

14. Ulusal Tıbbi Genetik Kongresi, Ankara, Turkey, 20 - 22 November 2020, pp.76, (Summary Text)

2020

44. MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları

KALAYCI T., ASLANGER A. D., ALTUNOĞLU U., TOKSOY G., KONUR E. N., AVCI Ş., et al.

14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", çevrimiçi, Turkey, 20 - 22 November 2020, vol.31, no.4, pp.53, (Summary Text)

2020

45. Nadir Ayme-Grip Sendromu Olgusu- Vaka sunumu ve litratür taraması

hacer demirbilek ö., GÜLEÇ Ç., ASLANGER A. D., YEŞİL SAYIN G.

14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", 20 November 2020, vol.31, (Summary Text)

2020

46. organel patolojisi ile ilişkili trappopatiler: TRAPPC4, TRAPPC6B, TRAPPC9, TRAPPC11 genleri ile ilişkili olan olguların klinik ve moleküler sonuçları

ASLANGER A. D., YÜCESAN E., GÖNCÜ B. S., YEŞİL G.

14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", Turkey, 20 November 2020, vol.31, (Summary Text)

2020

47. DEMİR TEDAVİSİNE DİRENÇLİ DEMİR EKSİKLİĞİ ANEMİSİ:IRIDA

Akay N., Tuna R., Durak Ö., Yeşil Sayın G., Karakaş Z.

42.Pediatri Günleri, İstanbul, Turkey, 13 - 16 September 2020, pp.47-48, (Summary Text)

2020

48. Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy

YÜCESAN E., Göncü B., ASLANGER A. D., Hasanoğlu S., YEŞİL SAYIN G.

European Human Genetics Conference, 6 - 09 June 2020

2020

49. Follow-up findings and genotype-phenotype correlation in 18 Turkish patients with biallelic mutation in the FKBP10 gene

YÜKSEL ÜLKER A., ULUDAĞ ALKAYA D., YEŞİL SAYIN G., TOKSOY G., UYGUNER Z. O., TÜYSÜZ B.

European Human Genetics Virtual Conference ESHG 2020, Austria, 6 - 09 June 2020, (Summary Text)

2019

50. Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) with a novel PIGA mutation

Gulec Z. E. K., Gulec Z. E. K., Yesil G., Yesil G., Onal H., Onal H., et al.

5th Congress of the European-Academy-of-Neurology (EAN), Oslo, Norway, 29 June - 02 July 2019, vol.26, pp.700, (Summary Text)

2018

51. Distinct phenotypes within TRPV4-associated disorders in the infantile period

Tuysuz B., Gunes N., Yesil G., Ozer E., Uludag-Alkaya D., Pehlivan D., 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, vol.27, pp.132, (Summary Text)

2018

52. Ataksi Telenjiektazi Hastalarının Ebeveynlerinde Enfeksiyonlar ve Lenfosit Alt Grup Bozuklukları

ÖĞÜLÜR İ., Ertüzün T., ÖZEN A. O., UYAR E., KIYKIM A., Başer D., et al.

XXV. Ulusal Allerji ve Klinik İmmünoloji Kongresi, Antalya, Turkey, 17 - 21 November 2018, (Full Text)

2018

53. INFECTIONS AND LYMPHOCYTE SUBSET ALTERATIONS IN ATAXIA TELANGIECTASIA MUTATED KINASE CARRIERS

ÖĞÜLÜR İ., Ertüzün T., ÖZEN A. O., UYAR E., KIYKIM A., Başer D., et al.

18th Biennial Meeting of ESID, Lizbon, Portugal, 24 - 27 October 2018, (Summary Text)

2017

54. The phenotype-genotype correlation of RASopathies in 33 patients from Turkey

Alkaya D. U., Yesil G., Lissewski C., Gunes N., Zenker M., Tuysuz B.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.249, (Summary Text)

2017

55. A Case With Rubinstein-Taybi Syndrome: A Novel Frameshift Mutation in CREBBP Gene

Eser M., Ayaz A., Yesil G.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.961, (Summary Text)

2017

56. Follow up four cerebrotendinous xanthomatosis patients; importance of early diagnosis and treatment

Duman N., Akyuz E., Geckinli B., Zubarioglu T., Yesil G.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.886, (Summary Text)

2017

57. Phenotypic and Molecular Characterization of Cockayne Syndrome; A Spotlight to Mild Cases

Yesil G., Akyuz E., Gunes N., Lessel D., Kubisch C., Tuysuz B.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.406-407, (Summary Text)

2018

58. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: A potentially lethal disorder with a new mutation

GÜNEŞ S., AYGÜN F., ÇAKAR N. E., GÜNEŞ D., BALCI M. C., YEŞİL G., et al.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2018, Greece, 4 September - 07 April 2018, (Summary Text)

2017

59. Oligodonti Olgusunun Genetik İncelenmesi ve İmmediat Protez Uygulaması: Olgu Sunumu

ŞENEL Ş. N., Yeşil G., ÖZCAN İ.

TDB 23. Uluslar arası Diş Hekimliği Kongresi, İstanbul, Turkey, 21 - 24 September 2017, pp.339, (Full Text)

2017

60. Oligodonti Olgusunun Genetik İncelenmesi ve İmmediat Protez Uygulaması: Olgu Sunumu

Şenel Ş. N., Yeşil G., Özcan İ.

TDB 23. Uluslar arası Diş Hekimliği Kongresi, İstanbul, Turkey, 21 - 24 September 2017, pp.339, (Summary Text)

2017

61. Evaluation of Clinical, Genetical, and Steroid Profile Features of Cases with 3Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency

GÜRAN T., KARA C., ATAY Z., AKBARZADE A., YILMAZ G., ÇELEBİ BİTKİN E., et al.

American Association of Clinical Chemistry Congress, 30 July - 03 August 2017

2017

62. Clinical and molecular genetic findings of a patient with fucosidosis: A Case report

ÖZCAN F., Yeşil G., ÖZCAN İ., ŞENEL Ş. N.

23rd Global Dentists and Pediatric Dentistry Annual Meeting, Münih, Germany, 17 - 18 July 2017, vol.7, no.7, pp.64, (Full Text)

2017

63. Clinical and molecular genetic findings of a patient with fucosidosis: A case report

Özcan F., Yeşil G., Özcan İ., Şenel Ş. N.

23rd Global Dentists and Pediatric Dentistry Annual Meeting, Munich, Germany, 17 - 18 July 2017, vol.7, pp.64, (Summary Text)

2017

64. Treatment of epilepsy of infancy with migrating focal seizures

ÜNVER O., YEŞİL G., ÖZGEN Z., SAĞER S. G., ÖZTÜRK THOMAS G., KUTLUBAY B., et al.

12th European congress of pediatric neurology, 20 - 24 June 2017, (Summary Text)

2017

65. Phenotypic and Molecular Characterization of Cockayne Syndrome A Spotlight to Mild Cases

YEŞİL G., GÜNEŞ N., Akyüz E., Lesser D., Kublach C., TÜYSÜZ B.

ESHG, 27 - 30 May 2017, (Summary Text)

2017

66. The phenotype-genotype correlation of RASopathies: 33 patients from Turkey

TÜYSÜZ B., YEŞİL G., ULUDAĞ ALKAYA D., GÜNEŞ N., Zenker M.

ESHG, 27 - 30 May 2017

2017

67. Tiroid hormone direnci olan iki olgu

CESUR Y., KUTLU E., ÖZGEN İ. T., YEŞİL G.

XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 26 April 2017, pp.237, (Full Text)

2017

68. Yenidoğan başlangıçlı, ancak nispeten hafif seyirli nonketotik hiperglisinemi vakası

CESUR Y., TAŞ İ., YEŞİL G., BAYRAKTAR B.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1, (Full Text)

2017

69. Ağır MTHFR Eksikliği Tanısında Metiyonin Düşüklüğünün Önemi

TAŞ İ., CESUR Y., UZUNER S., YEŞİL G.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, no.57, pp.48-49, (Full Text)

2017

70. 46XY Cinsel Gelişim Bozukluğunun Nadir Nedeni: 17?-hidroksilaz Eksikliği

CESUR Y., ÖZGEN İ. T., KUTLU E., YEŞİL G.

XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 26 April 2017, pp.121, (Full Text)

2017

71. Yeni mutasyon tespit edilen Sandhof Hastalığı vakası

CESUR Y., TAŞ İ., YEŞİL G., İŞCAN A.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1, (Full Text)

2017

72. Glutarik Asidüri Tip 2C’de Koenzim Q10 Eksikliği

CESUR Y., YEŞİL G., TAŞ İ., UZUNER S.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1, (Full Text)

2017

73. Piruvat dehidrogenaz eksikliğinin nadir bir alt tipi - Tiamin metabolizma disfonksiyon sendrom 5 (epizodik ensefalopati tipi)

CESUR Y., YEŞİL G., TAŞ İ., İŞCAN A.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1

2017

74. Change of ST segment in ECG recording and its relation with potassium channels in experimental epilepsy model induced in rats

AKYÜZ E., MEGA TİBER P., YEŞİL G.

Rhythm Congress, 2 - 03 March 2017, (Summary Text)

2017

75. Change of ST segment in ECG recording and its relation with potassium channels in experimental epilepsy model induced in rats

AKYÜZ E., MEGA TİBER P., YEŞİL G.

Rhythm Congress, 2 - 03 March 2017

2017

76. Sendromik veya İzole Kraniyosinostoz Öntanıları Olan Olgularda Saptanan FGFR2 Gen Mutasyonları

CEYLAN E. İ., ECE SOLMAZ A., ONAY H., AYKUT A., DURMAZ A., YEŞİL G., et al.

2. Ege Endokrin Hastalıkları ve Genetik Sempozyum, Turkey, 23 - 25 February 2017, (Summary Text)

2016

77. Normokalsemik seyreden psödohipoparatiroidi tip 1A

ÖZGEN İ. T., KUTLU E., YEŞİL G., CESUR Y., DUMAN N.

XX. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 05 October 2016, pp.85, (Full Text)

2016

78. Laron sendromu

KUTLU E., ÖZGEN İ. T., YEŞİL G., OĞUR M., CESUR Y.

XX. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 05 October 2016, pp.28, (Full Text)

2016

79. Deneysel epilepsi modelinde kalpte bulunan içeri doğrultucu potasyum kanallarının gen ekspresyonlarının incelenmesi

AKYÜZ E., AKBAŞ F., ERCAN Ç., YEŞİL G.

XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 September 2016, pp.1

2016

80. Oral and clinical findings of patients Alpha Thalassemia: 2 cases reports

ÖZCAN F., Yeşil G., ŞENEL Ş. N., ÖZCAN İ.

PDAA 2016- 10th Biennial Conference of the Pediatric Dentistry Association of Asia, Tokyo, Japan, 26 - 28 May 2016, pp.308, (Full Text)

2016

81. Clinical findings and molecular genetic diagnostic of a patient with Treacher Collins Syndrome: a case report

ÖZCAN İ., Yeşil G., ŞENEL Ş. N.

PDAA 2016- 10th Biennial Conference of the Pediatric Dentistry Association of Asia, Tokyo, Japan, 26 - 28 May 2016, pp.308, (Full Text)

2016

82. Enzim Tedavisi Başlanan Morquio A Sendromlu Üç Vaka

CESUR Y., TAŞ İ., YEŞİL G.

V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Muğla, Turkey, 14 April 2016, (Full Text)

2015

83. Prematür Over Yetmezliği Tanısı Alan Kadınlarda Genetik Analiz Sonuçları

ATEŞ S., ÖZCAN P., YEŞİL G.

V. Üreme Tıbbı ve Cerrahisi Derneği Kongresi, Antalya, Turkey, 28 - 31 May 2015

2014

84. Genomic Sequencing Approaches Indentifies Novel Rare Variants in Patients with Mendelian Neurologic Disease

ENDER K., PEHLİVAN D., TA H., SM W., HM S., GAMBIN T., et al.

american society of human genetics, 18 - 22 October 2014

2013

85. Prematür Ovarian Yetmezliği olan kadında sitogenetik analiz sonuçları

Geçkinli B. B., Toksoy G., Sayar C., Yeşil G., Karaman A., Aydın H., et al.

Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu, 2013, İstanbul, Turkey, 6 - 07 December 2013, vol.1, no.1, pp.30, (Summary Text)

2013

86. Prematür Ovarian Yetmezliği olan 181 kadında sitogenetik analiz sonuçları

GEÇKİNLİ B. B., TOKSOY G., Sayar C., YEŞİL SAYIN G., KARAMAN A., AYDIN H., et al.

Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu 2013, İstanbul, Turkey, 6 - 07 December 2013, vol.1, (Summary Text)

2013

87. Kraniyofasiyal Cerrahi Ekibinin Kuruluşu ve İşleyişi

YILDIZ K., GÜNDAĞ PAPAKER M., CANTER H. İ., ARALAŞMAK A., İŞCAN A., YEŞİL G., et al.

Türk Plastik Rekonstrüktif ve Estetik Cerrahi Derneği 35. Ulusal Kurultayı, Turkey, 28 - 31 October 2013

2013

88. Kraniyofasiyal cerrahi deneyimlerimiz

YILDIZ K., GÜNDAĞ PAPAKER M., CANTER H. İ., ARALAŞMAK A., İŞCAN A., YEŞİL G., et al.

Türk Plastik Rekonstrüktif ve Estetik Cerrahi Derneği 35. Kurultayı, Turkey, 28 - 31 October 2013

2012

89. Fetal karyotiplemede saptanan mozaik yapısal kromozom anomalisi ve oluşum mekanizması

TOKSOY G., Sayar C., Turkover B., Sahinoglu Z., YEŞİL SAYIN G., BAŞARAN S.

10.Ulusal Tıbbi Genetik Kongresi, Bursa, Turkey, 19 December 2012, pp.34, (Summary Text)

2012

90. Otozomal resesif brakiolmia: Yeni bir PAPSS2 mutasyonu saptanan olgu sunumu

YEŞİL G., ÖZGEN İ. T., CESUR Y., ALANAY Y.

XIV. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Samsun, Turkey, 08 November 2012, pp.36, (Full Text)

2012

91. Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)

Toksoy G., Yeşil Sayın G., Sayar C.

European Human Genetics Conference 2012, Nuremberg, Germany, 23 - 26 June 2012, vol.20, no.1, pp.121, (Summary Text)

2010

92. A Case With Duplication 2q

Toksoy G., Türköver B. B., Laleli Şahin E., Yeşil G., Sayar C., Duman N., et al.

. 9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37, (Summary Text)

2010

93. Identification Of 18q12.2-q21.1 Deletion : A case Report

DUMAN N., TOKSOY G., LALELİ Ş., Sayar C., TÜRKÖVER B., YEŞİL SAYIN G., et al.

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, Turkey, 1 - 05 December 2010, vol.78, pp.37, (Summary Text)

2010

94. A Case Report With A Rare 8p Duplication

Yeşil G., Sayar C., Toksoy G., Türköver B. B., Duman N., Demir Ü., et al.

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37, (Summary Text)

2010

95. A Case With Terminal Deletion On Long Arm Of Chromosome 1

Sayar C., Toksoy G., Laleli Şahin E., Türköver B. B., Duman N., Yeşil G., et al.

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.36-37, (Summary Text)

Books

2023

1. ERCC6L2 ile Ilişkili Konjenital Kemik İliği Yetmezliği Sendromu

ŞAHİN Ş., TUĞCU D., BİLİCİ M., YEŞİL SAYIN G., ÜNÜVAR A., KARAMAN S., et al.

in: Olgularla Kemik İliği Yetmezlikleri, Sule Ünal, Didem Atay, Turan Bayhan, Yusuf Ziya Aral, Editor, Galenos YAYINEVİ, İstanbul, pp.61-62, 2023

2023

2. Çok Nadir Rastlanan ve Farklı Prezantasyonu Olan Kalıtsal Bir Kemik İliği Yetmezliği: Olgu Sunumu

ÜNÜVAR A., ŞAHİN Ş., YILMAZ Y., DURMAZ D., ASLANGER A. D., BİLİCİ M., et al.

in: OLGULARLA KEMİK İLİĞİ YETMEZLİKLERİ, ŞULE ÜNAL CANGÜL, DİDEM ATAY, TURAN BAYHAN, YUSUF ZİYA ARAL, Editor, GALENOS, İstanbul, pp.163-167, 2023

2023

3. ERCC6L2 ile İlişkili Kalıtsal Kemik İliği Yetmezliği Sendromu

ŞAHİN Ş., TUĞCU D., BİLİCİ M., YEŞİL SAYIN G., ÜNÜVAR A., KARAMAN S., et al.

in: OLGULARLA KEMİK İLİĞİ YETMEZLİKLERİ, ŞULE ÜNAL CANGÜL, DİDEM ATAY, TURAN BAYHAN, YUSUF ZİYA ARAL, Editor, GALENOS, İstanbul, pp.62-63, 2023

2023

4. ERCC6L2 ile ilişkili kalıtsal kemik iliği yetmezliği sendromu

ŞAHİN Ş., TUĞCU D., BİLİCİ M., YEŞİL SAYIN G., ÜNÜVAR A., KARAMAN S., et al.

in: Olgularla Kemik İliği Yetmezlikleri, Cangül Ünal Şule, Atay Didem, Bayhan Turan, Aral Yusuf Ziya, Editor, GALENOS YAYINEVİ, pp.62-63, 2023

2023

5. Çok Nadir Rastlanan ve Farklı Prezentasyonu Olan Kalıtsal Bir Kemik İliği Yetmezliği: Olgu Sunumu

ÜNÜVAR A., ŞAHİN Ş., YILMAZ Y., DURMAZ D., Aslager A., BİLİCİ M., et al.

in: Olgularla Kemik İliği Yetmezlikleri, ÜNAL CANGÜL ŞULE, ATAY DİDEM, BAYHAN TURAN, ARAL YUSUF ZİYA, Editor, Galenos, İstanbul, pp.163-168, 2023

2022

6. Bölüm 32-Nörogenetik Hastalık için Genetik Paneller

Yeşil Sayın G.

in: Klinisyenler için Genetik Testler, Şükrü Öztürk, Editor, EMA tıp Kitapevi, İstanbul, pp.421-425, 2022

2021

7. BÖLÜM 4.2.5 Boy Kısalığı ile Giden Sendromlar

Yeşil Sayın G., Özgen İ. T.

in: Çocuk Endokrinolojisi ve Diyabet, rof. Dr. Feyza Darandeliler,Prof. Dr. Zehra Aycan,Prof. Dr. Cengiz Kara,Doç. Dr. Samim Özen,Doç. Dr. Erdal Eren, Editor, ISTANBUL TIP KITAPEVİ, İstanbul, pp.236-250, 2021

Funded Projects

2021 - 2023

Tıbbi Genetik Anabilim Dalında Değerlendirilen Olguların Retrospektif Analizi

Project Supported by Higher Education Institutions , BAP Research Project

YEŞİL SAYIN G. (Executive), GÜLEÇ Ç., ASLANGER A. D., SALMAN S. B., DURMAZ D., TOKSOY G., et al.

2021 - 2023

Tüm Genom Dizileme Yönteminin Genetik Hastalıkların Tanısına Katkısı

Project Supported by Higher Education Institutions , BAP PhD

YEŞİL SAYIN G. (Executive), GÜLAÇAR İ. M.

2021 - 2022

Fetal Dönemde Kontraktürler ile Seyreden Sendromların Moleküler Etiyopatogenezinin Yeni Nesil Dizileme Yöntemleri ile Araştırılması

Project Supported by Higher Education Institutions , BAP PhD

YEŞİL SAYIN G. (Executive), TURGUT G. T.

Activities in Scientific Journals

2021 - Present

Bmc Pediatrics

Committee Member

Memberships and Roles in Scientific Organizations

2019 - 2021

tıbbi genetik derneği

Secretary General

Roles in Event Organizations

May 2021

Online Dismorfoloji Kursu

Scientific Congress

Yeşil Sayın G.

İstanbul, Turkey

November 2020

14. ULUSAL TIBBİ GENETİK KONGRESİ

Scientific Congress

Uyguner Z. O., YEŞİL SAYIN G.

Turkey

Ekim 2019

2. Genetikte Güncel Tedaviler Sempozyumu

Scientific Congress

Yeşil Sayın G.

Konya, Turkey

Şubat 2019

Nadir Hastalıklar Sempozyumu 2011-2019

Scientific Congress

Yeşil G.

İstanbul, Turkey

Mobility Activity

2022 - 2022

Improving Competencies and Qualifications

Guest Researcher

University College London, England

Awards

November 2021

Laboratory and in Silico Analysis of the Pathogenic variant of Interlokin-17 (Rs763780) in Patients Diagnosed with COVID-19»BEST ORAL PRESENTATION THIRD PRIZE

Molecular Aspects Of Human Wellness

February 2019

KRONİK GRANULOMATÖZ HASTALIKTA AKAN HÜCRE ÖLÇERDE BELİRLENEN NADPH OKSİDAZ ALT ÜNİTELERİNİN GENOİPİ ÖNGÖRMEDE ROLÜ

4. Vı.Marmara Pediatri Kongresi

November 2018

POSTER BİRİNCİLİĞİ ÖDÜLÜ KABUKİ SENDROMUNDA KMT2D GENİNİN MUTASYON SPEKTRUMU,

Xııı. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi

May 2013

sözlü sunum birincliği

I.Ulusual Cocuk Genetik Kongresi

March 2009

en iyi sözlü sunum ödülü

Iv. Dismorfoloji Günleri

Congress and Symposium Activities

20 November 2020 - 22 November 2020

14.Ulusal Tıbbi Genetik Kongresi

Session Moderator

Ankara-Turkey

Invited Talks

February 2025

Rare Disease Day Symposium

Conference

North Cyprus Turkish Medical Association -Cyprus (Kktc)

September 2024

Infertility 35+

Workshop

-Georgia

October 2023

Asistan Okulu

Seminar

Tıbbi Genetik Derneği-Turkey

April 2022

44.Pediatri Günleri

Conference

İstanbul Üniversitesi-Turkey

February 2022

NADİR HASTALIKLAR GÜNÜ EĞİTİM TOPLANTISI

Seminar

İstanbul Üniversitesi-Turkey

February 2022

4.Nadir Hastalıklar Sempozyumu

Conference

Biruni Üniversitesi-Turkey

May 2021

43. Pediatri Günleri ve 22. Pediatri Hemşireliği Günleri

Conference

İstanbul Üniversitesi-Turkey

February 2020

Nadir Hastalıklar Sempozyumu

Conference

Biruni Üniversitesi-Turkey

May 2019

V. Nadir Görülen Hastalıklar Sempozyumu ve Nörogenetik Kursu

Conference

Türk Nöroloji Derneği-Turkey

April 2019

41.pediatri günleri

Conference

İstanbul Üniversitesi-Turkey

Citations

Total Citations (WOS): 2084

h-index (WOS): 27

Jury Memberships

August-2019

August 2019