Glenda Ernst
Haris Kokotas, PhD
Principal Investigator

  • Institute of Child Health
    Athens, Greece
    Phone: +30 6974 109 335
    E-mail: hkokotas@ich.gr

Education

  • BSc, Biology, Faculty of Biology, School of Natural Sciences, University of Athens, Greece. 1999 - 2005.
  • PhD, Human Molecular Genetics, A’ Department of Otorhinolaryngology – Head & Neck Surgery, Athens University Medical School, Hippokration Hospital, Athens, Greece. 2008 - 2011.

Biography

Haris Kokotas, Molecular Geneticist, received his BSc from the Faculty of Biology, University of Athens, Greece and earned his PhD in Molecular Genetics of Deafness from the Athens University Medical School. He has gained experience on cytogenetic and molecular techniques and he has focused his research on the genetics of the head, including hearing loss and eye diseases. He is currently the principal investigator or co-investigator in several research projects which are being performed at the Department of Genetics, Institute of Child Health, Athens, Greece. He has presented in several national and international conferences and has published numerous articles in national and international peer-reviewed scientific journals. He has also taken the task of the managing editor for a special issue dedicated to the genetics of sensorineural hearing loss. Dr. Haris is a member of the Hellenic Association of Medical Geneticists, the European Society of Human Genetics (ESHG), and the American Society of Human Genetics (ASHG).

 

Research Interest

Molecular genetics of deafness and blindness

 

Scientific Activities:

I) Invited Speaker: “Genetics of mitochondrial deafness”. A' Department of Otorhinolaryngology - Head   & Neck Surgery, Hippokration Hospital, Athens University Medical School, Athens, Greece, 15/12/2009.

II) Invited Managing Editor: Special issue entitled ‘Molecular Genetics of Sensorineural Hearing Loss’.   Frontiers in Bioscience, 2012. (https://www.bioscience.org/special-issue-details?editor_id=87).

III) National fellowship for the best young Greek geneticist: Awarded by the European Society of Human Genetics after a proposal of the Hellenic Association of Medical Geneticists. Assigned at the European Human Genetics Conference, June 7 – 11, 2013, Paris, France.

IV) Membership in Scientific Organizations

  • Member of the European Society of Human Genetics (ESHG), 2006 - .
  • Member of the Hereditary Hearing Impairment Consortium (NIDCD-HHI-Consortium), 2007 - .
  • Member of the Hellenic Association of Medical Geneticists, 2008 - .
  • Member of the American Society of Human Genetics (ASHG), 2008 - .
  • Member of the Greek Orphanet group (www.orpha.net), 2009 - 2012.
  • Member of the Panhellenic Union of Bioscientists, 2011 - .

V) Membership in Editorial Boards

  • Austin Biomarkers & Diagnosis (Austin Publishing Group)
  • Austin Journal of Genetics & Genomic Research (Austin Publishing Group)
  • Clinical Research & Trials (OA Text)
  • Edorium Journal of Genetic Diseases (Edorium Journals)
  • International Journal of Genetics (Bioinfo Publications)
  • International Journal of Medical Biotechnology & Genetics (SciDoc Publishers)
  • International Journal of Ophthalmic Research (ACT Publishing)
  • International Journal of Pediatric and Neonatal Nursing: Open Access (Significs Online Publishing)
  • Journal of Genetics & Genome Research (ClinMed International Library)
  • Journal of Genetic Syndromes & Gene Therapy (Omics Publishing Group)

Publications

PUBLICATIONS IN GREEK SCIENTIFIC JOURNALS
  1. Kokotas H, Grigoriadou M, Korres GS, Giannoulia-Karantana A, Petersen MB (2008). The significance of GJB2 mutations in prelingual, sensorineural, nonsyndromic, recessive deafness. Hellenic Otorhinolaryngology Head & Neck Surgery 29(4): 177-181.
  2. Kokotas H, Grigoriadou M, Korres GS, Giannoulia-Karantana A, Petersen MB (2009). Mitochondrion, that tiny demon. Hellenic Otorhinolaryngology Head & Neck Surgery 30(1): 26-31.
  3. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB (2009). Hearing loss as a result of mitochondrial DNA mutations. Hellenic Otorhinolaryngology Head & Neck Surgery 30(2): 74-81.
  4. Kokotas H, Grigoriadou M, Kitsos G, Giannoulia-Karantana A, Petersen MB (2009). Genetics of primary open angle glaucoma: mutations and genetic loci. Greek Annals of Ophthalmology 3: 242-245.
  5. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Papadopoulou E, Neou  P, Giannoulia-Karantana A, Kandiloros D, Petersen MB (2009). Molecular analysis of the mitochondrial A1555G mutation causing sensorineural, non-syndromic deafness in the Greek population. Hellenic Otorhinolaryngology Head & Neck Surgery 30(3): 103-106.
  6. Kokotas H, Grigoriadou M, Papageorgiou E, Giannoulia-Karantana A, Petersen MB (2009). X-linked juvenile retinoschisis: a molecular genetic approach. Greek Annals of Ophthalmology 4: 367-372.
  7. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Gyftodimou Y, Giannoulia-Karantana A, Kandiloros D, Petersen MB (2009). Sensorineural, non-syndromic hearing loss associated with the A7445G point mutation of the mitochondrial genome in Greeks. Hellenic Otorhinolaryngology Head & Neck Surgery 30(4): 145-148.
  8. Kokotas H, Grigoriadou M, Papageorgiou E, Giannoulia-Karantana A, Petersen MB (2010). Genetics of non-syndromic aniridia. Greek Annals of Ophthalmology 1: 28-32.
  9. Kokotas H, Grigoriadou M, Gyftodimou Y, Korres GS, Ferekidou E, Kandiloros D, Petersen MB (2010). Extreme phenotypic variation in a family with a mitochondrial and a nuclear deafness-causing mutation. Hellenic Otorhinolaryngology Head & Neck Surgery 31(1): 45-49.
  10. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Kandiloros D, Petersen MB (2010). Detection of GJB2 mutations in the Greek population. Hellenic Otorhinolaryngology Head & Neck Surgery 31(2): 45-48.
  11. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Kandiloros D, Petersen MB (2010). Interactions of mitochondrial and nuclear deafness. Hellenic Otorhinolaryngology Head & Neck Surgery 31(3): 45-50.
  12. Kokotas H, Petersen MB (2011). The role of molecular genetics in modern Greek otology. Hellenic Otorhinolaryngology Head & Neck Surgery 32(2): 178-179.
  13. Kokotas H, Chiras D, Sarli A, Skalidakis I, Velissari A, Grigoriadou M, Kitsos G, Kroupis C, Petersen MB. Genetic and biochemical markers in age-related macular degeneration. In press
PUBLICATIONS IN INTERNATIONAL PEER-REVIEWED SCIENTIFIC JOURNALS
  1. Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, DiMauro S, Petersen MB (2006). Prenatal diagnosis of glycogen storage disease type IV. Prenatal Diagnosis 26(10): 951-955.
  2. Sarri C, Gyftodimou Y, Grigoriadou M, Pandelia E, Kalogirou S, Kokotas H, Mrasek K, Weise A, Petersen MB (2006). Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and odd facies. Cytogenetic & Genome Research 114(3-4): 330-337.
  3. Kokotas H, Petersen MB, Willems PJ (2007). Mitochondrial deafness. Clinical Genetics 71(5): 379-391.
  4. Kokotas H, Grigoriadou M, Petersen MB. Meiotic nondisjunction – the major cause of trisomy 21 (2008). In: Egel & Lankenau (eds): Recombination and meiosis – Crossing over and disjunction, Genome Dynamics & Stability 2, Springer, Heidelberg, pp. 245-278.
  5. Konstantinidou A, Karadimas C, Waterham HR, Superti-Furga A, Kaminopetros P, Grigoriadou M, Kokotas H, Agrogiannis G, Giannoulia-Karantana A, Patsouris E, Petersen MB (2008). Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenatal Diagnosis 28(4): 309-312.
  6. Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d’Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB (2008). Cohen syndrome due to a novel large intragenic COH1 deletion segregating in an isolated Greek island population. American Journal of Medical Genetics 146A(17): 2221-2226.
  7. Kokotas H, Theodosiou M, Korres G, Grigoriadou M, Ferekidou E, Giannoulia-Karantana A, Petersen MB, Korres S (2008). Sudden hearing loss in a family with GJB2 related progressive deafness. International Journal of Pediatric Otorhinolaryngology 72(11): 1735-1740.
  8. Kokotas H, Van Laer L, Grigoriadou M, Iliadou V, Economides J, Pomoni S, Pampanos A, Eleftheriades N, Ferekidou E, Korres S, Giannoulia-Karantana A, Van Camp G, Petersen MB (2008). Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. American Journal of Medical Genetics 146A(22): 2879-2884.
  9. Manolakos E, Kosyakova N, Thomaidis L, Neroutsou R, Weise A, Mihalatos M, Orru S, Kokotas H, Kitsos G, Liehr T, Petersen MB (2008). Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report. Molecular Cytogenetics 1(1): 24.
  10. Kolaitis G, Papanikolaou K, Paliokosta E, Tsiantis J, Gyftodimou Y, Sarri C, Petersen MB, Kokotas H (2009). De novo inverted interstitial duplication 8q22.1-q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features. Advances in Mental Health & Learning Disabilities 3(2): 48-52.
  11. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Papadopoulou E, Neou P, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB (2009). The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss. Biochemical & Biophysical Research Communications 390(3): 755–757.
  12. Kokotas H, Grigoriadou M, Mikkelsen M, Giannoulia-Karantana A, Petersen MB (2009). Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population. Disease Markers 27(6): 279-285.
  13. Kitsos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, Kokotas H, Giannoulia-Karantana A, Mackey DA, Wirtz MK, Moschou M, Ioannidis JPA, Petersen MB (2010). Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece. Clinical Ophthalmology 4: 171-178.
  14. Kokotas H, Grigoriadou M, Hatzaki A, Antoniadi T, Giannoulia-Karantana A, Petersen MB (2010). Easy, rapid and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing non-syndromic hearing impairment in the Greek population. Genetic Testing & Molecular Biomarkers 14(2): 189-192.
  15. Kokotas H, Grigoriadou M, Villamar M, Giannoulia-Karantana A, del Castillo I, Petersen MB (2010). Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history? Genetic Testing & Molecular Biomarkers 14(2): 183-187.
  16. Kokotas H, Petersen MB (2010). Clinical and molecular aspects of aniridia. Clinical Genetics 77(5): 409-420.
  17. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB (2010). Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness? Journal of Human Genetics 55(5): 265-269.
  18. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Kandiloros D, Korres S, Petersen MB (2010). Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation. Molecular Genetics & Metabolism 100(3): 300-301.
  19. Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M (2010). A truncating mutation in SERPINB6 is associated with autosomal recessive non-syndromic sensorineural hearing loss (DFNB91). American Journal of Human Genetics 86(5): 797-804.
  20. Kokotas H (2010). Molecular technology Vs clinical practice: a hypothesis in genetics. Journal of Human Genetics 55(8): 552-553.
  21. Naranjo S, Voesenek K, de la Calle-Mustienes E, Robert-Moreno A, Kokotas H, Grigoriadou M, Economides J, Van Camp G, Hilgert N, Moreno F, Alsina B, Petersen MB, Kremer H, Gómez-Skarmeta JL (2010). Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing. Human Genetics 128(4): 411-419.
  22. Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff ND, Gyftodimou Y, Korres GS, Ferekidou E, Kandiloros D, Korres S, Tranebjærg L, Guan MX, Petersen MB (2011). Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. International Journal of Pediatric Otorhinolaryngology 75(1): 89-94.
  23. Manolakos E, Sarri C, Vetro A, Kefalas K, Leze E, Sofocleus C, Kitsos G, Merou K, Kokotas H, Papadopoulou A, Attilakos A, Petersen MB, Kitsiou-Tzeli S (2011). Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. Molecular Cytogenetics 4(1): 6.
  24. Kokotas H, Grigoriadou M, Petersen MB (2011). Age-related macular degeneration: genetic and clinical findings. Clinical Chemistry & Laboratory Medicine 49(4): 601-616.
  25. Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Kandiloros D, Korres S, Petersen MB (2011). Detection of deafness-causing mutations in the Greek mitochondrial genome. Disease Markers 30(6): 283-289.
  26. Kotoulas A*, Kokotas H*, Kopsidas K, Droutsas K, Grigoriadou M, Bajrami H, Schorderet DF, Petersen MB (2011). A novel PIKFYVE mutation in fleck corneal dystrophy. Molecular Vision 17: 2776-2781. *equal contribution.
  27. Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB (2011). Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes. American Journal of Medical Genetics 155(11): 2841-2854.
  28. Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB (2012). High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. Clinical Genetics 81(2): 172-178.
  29. Petersen MB, Grigoriadou M, Economides J, Kokotas H (2012). Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness. International Journal of Pediatric Otorhinolaryngology 76(4): 549-551.
  30. Kokotas H, Papagiannaki K, Grigoriadou M, Petersen MB, Katsarou A (2012). Erythrokeratodermia variabilis: Report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. European Journal of Dermatology 22(2): 182-186.
  31. Petersen MB, Grigoriadou M, Koutroumpe M, Kokotas H (2012). The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness. International Journal of Pediatric Otorhinolaryngology 76(7): 969-971.
  32. Kokotas H (2012). Human nondisjunction and mouse models in Down syndrome. Journal of Genetic Syndromes & Gene Therapy 3(3): e108.
  33. Kokotas H, Kroupis C, Chiras D, Grigoriadou M, Lamnissou K, Petersen MB, Kitsos G (2012). Biomarkers in primary open angle glaucoma. Clinical Chemistry & Laboratory Medicine 50(12): 2107–2119.
  34. Kroupis C, Chiras D, Tzika K, Kokotas H (2013). Molecular genetics of pseudoexfoliation syndrome (PXFS) and glaucoma (PXFG). Journal of Genetic Syndromes & Gene Therapy 4(1): 1000e118.
  35. Chiras D, Tzika K, Kokotas H, Oliveira SC, Grigoriadou M, Kastania A, Stefaniotou M, Aspiotis M, Petersen MB, Kroupis C, Kitsos G (2013). Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population. Molecular Vision 19: 1006-1016.
  36. Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH (2013). SLITRK6 mutations cause myopia and deafness in humans and mice. Journal of Clinical Investigation 123(5): 2094-2102.
  37. Grigoriadou M, Schulpis KH, Kokotas H (2014). Molecular genetics and gene therapy aspects of phenylalanine hydroxylase (PAH) related hyperphenylalaninemias. Journal of Genetic Syndromes & Gene Therapy 5(6): e125.
  38. Sarri C, Douzgou S, Kontos H, Anagnostopoulou K, Tümer Z, Grigoriadou M, Petersen MB, Kokotas H, Merou K, Pandelia E, Giouroukou E, Papanikolaou K, Côté GB, Gyftodimou Y (2015). 35-year follow-up of a case of ring chromosome 2. Array-CGH analysis and literature review of the ring syndrome. Cytogenetic & Genome Research 145(1): 6-13.

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