Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol.115, no.20, pp.5241-5246, 2018 (Journal Indexed in SCI) identifier identifier identifier

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

The Journal of clinical investigation, vol.127, pp.4090-4103, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

European journal of human genetics : EJHG, vol.25, pp.1118-1125, 2017 (Journal Indexed in SCI) identifier identifier identifier

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

HORMONE RESEARCH IN PAEDIATRICS, vol.86, pp.167, 2016 (Journal Indexed in SCI) identifier

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

HORMONE RESEARCH IN PAEDIATRICS, vol.86, pp.175-176, 2016 (Journal Indexed in SCI) identifier

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

HUMAN MOLECULAR GENETICS, vol.24, no.8, pp.2267-2273, 2015 (Journal Indexed in SCI) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.2, pp.291-304, 2014 (Journal Indexed in SCI) identifier identifier identifier

Three Patients Resembling Teebi-Shaltout Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.161, no.10, pp.2570-2575, 2013 (Journal Indexed in SCI) identifier identifier identifier

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

AMERICAN JOURNAL OF HUMAN GENETICS, vol.90, no.4, pp.661-674, 2012 (Journal Indexed in SCI) identifier identifier identifier

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS, vol.90, no.1, pp.76-85, 2012 (Journal Indexed in SCI) identifier identifier identifier

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS, vol.89, no.1, pp.139-147, 2011 (Journal Indexed in SCI) identifier identifier identifier

ALX4 dysfunction disrupts craniofacial and epidermal development

HUMAN MOLECULAR GENETICS, vol.18, no.22, pp.4357-4366, 2009 (Journal Indexed in SCI) identifier identifier identifier

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol.105, no.11, pp.4232-4236, 2008 (Journal Indexed in SCI) identifier identifier identifier

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.12, pp.1308-1312, 2007 (Journal Indexed in SCI) identifier identifier identifier

Molecular and clinical analysis of Turkish patients with HLH

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.29, 2007 (Journal Indexed in SCI) identifier

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

American journal of medical genetics. Part A, vol.140, no.20, pp.2155-62, 2006 (Journal Indexed in SCI Expanded) identifier identifier identifier

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.4, pp.404-408, 2005 (Journal Indexed in SCI) identifier identifier identifier

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol.45, no.7, pp.2218-2223, 2004 (Journal Indexed in SCI) identifier identifier identifier

Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

Progress in neuro-psychopharmacology & biological psychiatry, vol.28, no.2, pp.255-66, 2004 (Journal Indexed in SCI Expanded) identifier identifier identifier

Male cells in female recipients of hematopoietic-cell transplants

NEW ENGLAND JOURNAL OF MEDICINE, vol.347, no.3, pp.219, 2002 (Journal Indexed in SCI) identifier identifier identifier

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol.99, no.11, pp.7548-7553, 2002 (Journal Indexed in SCI) identifier identifier identifier

Autosomal recessive severe intraosseous hemangioma in the skull. A new syndrome?

AMERICAN JOURNAL OF HUMAN GENETICS, vol.67, no.4, pp.57, 2000 (Journal Indexed in SCI) identifier

A large family with type IV radial polydactyly

JOURNAL OF HAND SURGERY-BRITISH AND EUROPEAN VOLUME, no.4, pp.530-533, 1998 (Journal Indexed in SCI) identifier identifier identifier

Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.

American journal of medical genetics, vol.58, pp.18-20, 1995 (Journal Indexed in SCI) identifier identifier identifier

GENETIC FEATURES OF RETINITIS-PIGMENTOSA IN TURKEY

DOCUMENTA OPHTHALMOLOGICA, vol.89, no.4, pp.387-392, 1995 (Journal Indexed in SCI) identifier identifier identifier

THERAPEUTIC AND GENETIC-ASPECTS OF CONGENITAL GLAUCOMAS

INTERNATIONAL OPHTHALMOLOGY, vol.16, pp.359-362, 1992 (Journal Indexed in SCI) identifier

Therapeutical and genetical aspects of congenital glaucomas.

International ophthalmology, vol.16, pp.359-62, 1992 (Journal Indexed in SCI Expanded) identifier identifier

NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME

CLINICAL GENETICS, vol.40, no.5, pp.342-344, 1991 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

MOLECULAR GENETICS & GENOMIC MEDICINE, vol.1, no.4, pp.223-237, 2013 (Journal Indexed in ESCI) identifier identifier

Refereed Congress / Symposium Publications in Proceedings

Plant-based milk alternative preference for children with cow milk protein allergy: Affecting factors and effect on nutritional status

European-Academy-of-Allergology-and-Clinical-Immunology Digital Congress (EAACI), London, Canada, 6 - 08 June 2020, vol.75, pp.539-540 identifier

Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family

10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Cyprus (Kktc), 29 - 30 June 2017

MULTICENTER RESULTS OF SCHWACHMAN-DIAMOND SYNDROME PATIENTS

22nd Congress of the European-Hematology-Association, Madrid, Spain, 22 - 25 June 2017, vol.102, pp.704-705 identifier

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), California, United States Of America, 3 - 06 December 2016, vol.128 identifier

A Hypomorphic Coronin-1A Mutation that Abolishes Oligomerization and Cytoskeletal Association Is Associated with Impaired CD4+T Cell Survival

16th Biennial Meeting of the European-Society-for-Immunodeficiencies (ESID), Prague, Czech Republic, 29 October - 01 November 2014, vol.34 identifier

Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Annual Meeting of the American-Academy-of-Allergy-Asthma-and-Immunology (AAAAI), California, United States Of America, 28 February - 04 March 2014, vol.133 identifier

Congenital hypertelorism & osteopenia, a novel autosomal recessive disease of development

16th Annual Conference of the International-Society-of-Development-Biologists, Edinburgh, Saint Helena, 6 - 10 September 2009, vol.126 identifier

Linkage analysis of a four generation herediter spherocytosis family with spectrin deficiency

7th European Cytogenetics Conference, Stockholm, Sweden, 4 - 07 July 2009, vol.17, pp.79 identifier

The association of BDNF gene val66met polymorphism with the serum BDNF levels in drug-free depressed patients

21st Congress of the European-College-of-Neuropsychopharmacology, Barcelona, Spain, 30 August - 03 September 2008, vol.18 identifier

Hunting the susceptibility gene for psychosis: A study of a family overloaded with different forms of psychotic disorders

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Czech Republic, 20 - 24 September 2003, vol.13 identifier

A family overloaded with psychosis and rickets-alopecia syndrome challenges vitamin-D hypothesis for schizophrenia

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Czech Republic, 20 - 24 September 2003, vol.13 identifier

Molecular characterization of pyrimidine 5 prime nucleotidase (P5N-1) deficiency: Identification of 3 novel mutations.

44th Annual Meeting of the American-Society-of-Hematology, PHILADELPHIA, PENNSYLVANIA, 6 - 10 December 2002, vol.100 identifier

Phenotype description of Van der Woude Syndrome (VWS) unlinked to chromosome 1 containing IRF6

52nd Annual Meeting of the American-Society-of-Human-Genetics, BALTIMORE, MARYLAND, 15 - 19 October 2002, vol.71, pp.285 identifier

Juvenile Hyalin Fibromatosis in three sibs from a consanguineous family: Clinical, histopathological and imminohistochemical findings

European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics, Strasbourg, France, 25 - 28 May 2002, vol.10, pp.121-122 identifier

Books & Book Chapters

YÜZ YARIKLARININ GENETİĞİ

in: DUDAK ve DAMAK YARIKLARI HACETTEPE EKİP YAKLAŞIMI, Fatma FİGEN ÖZGÜR, Arda KÜÇÜKGÜVEN, Editor, HEKİM TIP KİTABEVİ, Ankara, pp.518-523, 2020

The ALX Homeobox Gene Family and Frontonasal Dysplasias

in: Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.), Robert P. Erickson,Anthony J. Wynshaw-Boris, Editor, Oxford University Press, London , London, pp.747-752, 2016