| | DATE | JOURNAL | ARTICLE TITLE | AUTHORS |
| 1 | May 2020 | Biomedical Reports | A novel familial mutation associated with Treacher Collins syndrome: A case report | Papageorgiou E., Papoulidis I., Manolakos E., et all |
| 2 | May 2020 | Hellenic Journal of Cardiology | A novel Desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype | Efthimiadis G., Manolakos E., Papoulidis I., et all. |
| 3 | November 2019 | Molecular Cytogenetics | Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases | Koumparis G., Manolakos E., Papoulidis I., et all. |
| 4 | November 2019 | Journal of Medical Care Reports | Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature | Tatsi P., Papoulidis I., et all. |
| 5 | October 2019 | Clinical Case Reports | A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus | Papadimitriou D.T., Manolakos E., et all. |
| 6 | July 2019 | Medicina | A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn)as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome | Mitsiakos G., Papoulidis I., et all. |
| 7 | June 2019 | Biomedical Reports | Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report | Orru S., Papoulidis I., Siomou E., Manolakos E., et all. |
| 8 | April 2019 | Current Genomics | Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing | Papasozomenou P., Papoulidis I., et all. |
| 9 | February 2019 | Human Mutation | Small supernumerary market chromosomes: A legacy of trisomy rescue | Kurtas N.E., Manolakos E., et all. |
| 10 | February 2019 | Frontiers in Pediatrics | Immune Dysregulation, Polyendrocrinopathy, Enteropathy, X- Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene | Agakidis C., Papoulidis I., et all. |
| 11 | January 2019 | Molecular Sydromology | 17p13.1 Mikroduplication Sydrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature | Leka- Emiri S., Manolakos E., et all. |
| 12 | January 2019 | Molecular Sydromology | Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family | Dikaiakou E., Manolakos E., et all. |
| 13 | April 2018 | Current Genomics | A girl with 10 Mb Distal Xp Deletion Arising from Maternal Rericentric Inversion: Clinical Data and Molecular Characterization. | Papoulidis I., Paspaliaris V., Manolakos E., et all. |
| 14 | March 2018 | Clinical Genetics | Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH | Vetro A., Manolakos E., et all. |
| 15 | March 2018 | Molecular Cytogenetics | Parental Origin of Deletions and Duplications- About the Necessity to Check for Cryptic Inversions | Liehr T., Manolakos E., et all. |
| 16 | December 2017 | Molecular Syndromology | Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case | Paspaliaris V., Manolakos E., et all |
| 17 | December 2017 | Molecular Medicine Reports | 7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case | Paspaliaris V., Manolakos E., et all |
| 18 | December 2017 | Molecular Medicine Reports, | Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization | Papadopoulou Z., Papoulidis I., Manolakos E., et all |
| 19 | June 2017 | Prenatal Diagnosis | Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study | Sotiriadis A., Papoulidis I., Siomou E., Papageorgiou E., Alexiou M., Manolakos E., et all. |
| 20 | May 2017 | Clinical Genetics Diagnostic | application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH | Vetro A., Manolakos E., et all. |
| 21 | October 2016 | Molecular Cytogenetics | Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities | Dagklis T., Papageorgiou E., Siomou E., Paspaliaris V., Manolakos E., Papoulidis I., et all. |
| 22 | August 2016 | Molecular Cytogenetics | Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay | Fryssira H., Papoulidis I., Manolakos E., et all. |
| 23 | June 2016 | Journal of Musculoskeletal and Neuronal Interactions | (JMNI)Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges | Papamerkouriou Y.M., Gyftodimou Y., et all. |
| 24 | January 2016 | Clinical Genetics | Dysmorphology services: a snapshot of current practices and a vision for the future | Douzgou S., Gyftodimou Y., et all. |
| 25 | December 2015 | Prenatal Diagnosis | Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases | Papoulidis I., Siomou E., Papageorgiou E., Manolakos E., et all. |
| 26 | November 2015 | Diabetes & Metabolism | Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome | Papoulidis I., Siomou E., Papageorgiou E., Manolakos E., et all. |
| 27 | September 2015 | Molecular Cytogenetics | Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male | Papoulidis I., Paspaliaris V., Siomou E., Manolakos E., et all. |
| 28 | August 2015 | European Journal of Human Genetics | Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 | Vetro A., Manolakos E., et all. |
| 29 | February 2015 | Gene | Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome | Dimitriadou M., Gyftodimou Y., et all. |
| 30 | April 2015 | Cytogenetic and Genome Research | Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay | Papoulidis I., Paspaliaris V., Papageorgiou E., Siomou E., Manolakos E., et all. |
| 31 | December 2015 | Cytogenetic and Genome Research | Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties | Kontodiou M., Paspaliaris V., Papoulidis I., Manolakos E., et all. |
| 32 | May 2015 | Cytogenetic and Genome Research | 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome | Sarri C., Gyftodimou Y., et all. |
| 33 | December 2014 | Molecular Cytogenetics, | A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics | Lagou M., Papoulidis I., Kontodiou M., Manolakos E., et all. |
| 34 | December 2014 | International Journal of Cardiology | Brachydactyly and atrial septal defect: when the digits point to the heart | Siniorakis E., Manolakos E., et all. |
| 35 | June 2014 | Human Molecular Genetics | Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance | Varvagiannis K., Papoulidis I., Gyftodimou Y., Manolakos E., et all. |
| 36 | April 2014 | Meta Gene | De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features | Varvagiannis K., Papoulidis I., Gyftodimou Y., Manolakos E., et all. |
| 37 | April 2014 | Experimental and Therapeutic Medicine | Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature | Manolakos E., Papoulidis I., et all |
| 38 | April 2014 | Birth Defects Research Part A: Clinical and Molecular Teratology | Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature | Sifakis S., Manolakos E., Papoulidis I., et all. |
| 39 | February 2014 | Gene | A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype | Papoulidis I., Papageorgiou E., Siomou E., Manolakos E., et all. |
| 40 | January 2014 | Molecular Medicine Reports | Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case | Papoulidis I., Siomou E., Kontodiou M., Manolakos E., et all. |
| 41 | April 2014 | Cytogenetic and Genome Research | An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review | Vlaikou A.M., Manolakos E., Papoulidis I., et all. |
| 42 | October 2013 | Molecular Cytogenetics | Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH | Manolakos E., Siomou E., Papageorgiou E., Papoulidis I., et all. |
| 43 | September 2013 | Nature | HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle | Deardorff M.A., Gyftodimou Y., et all. |
| 44 | June 2013 | Balkan Journal of Medical Genetics | Human Ring Chromosomes – New Insights for their Clinical Significance | Guilherme R., Manolakos E., et all. |
| 45 | June 2013 | Molecular Syndromology | De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia | Papoulidis I., Manolakos E., et all. |
| 46 | May 2013 | Orphanet Journal of Rare Diseases | Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome | Malfait F., Gyftodimou Y., et all. |
| 47 | May 2013 | Cytogenetic and Genome Research | Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement | Manolakos E., Papoulidis I., et all. |
| 48 | February 2013 | American Journal of Medical Genetics Part A | Pure de novo partial trisomy 6p in a girl with craniosynostosis | Varvagiannis K., Gyftodimou Y., et all. |
| 49 | January 2013 | Journal of Obstetrics and Gynaecology | Recurrent short rib polydactyly syndrome | Eleftheriades M., Manolakos E., et all. |
| 50 | December 2012 | Journal of Diabetes & Metabolism | Effect of Gestational Diabetes on Circulating Levels of Maternal and Neonatal Carnitine | Agakidou E., Papoulidis I., et all. |
| 51 | December 2012 | The Journal of Maternal-Fetal & Neonatal Medicine | Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities | Eleftheriades M., Manolakos E., et all. |
| 52 | November 2012 | European Journal of Medical Genetics | A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2 | Siomou E., Manolakos E., Gyftodimou Y., Papoulidis I., et all. |
| 53 | July 2012 | Journal of Clinical Ultrasound | Sonographic antenatal diagnosis of congenital dacryocystoceles | Sotiriou S., Manolakos E., et all. |
| 54 | July 2012 | Prenatal Diagnosis | Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13,500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications | Papoulidis I., Siomou E., Kontodiou M., Manolakos E., et all. |
| 55 | April 2012 | Clinical Dysmorphology | Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature | Manolakos E., Papoulidis I., et all. |
| 56 | March 2012 | European Journal of Medical Genetics | Unexpected results in the constitution of small supernumerary marker chromosomes | Vetro A., Manolakos E., et all. |
| 57 | March 2012 | Human Immunology | Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia | Orrù S., Manolakos E., et all. |
| 58 | February 2012 | Clinical Genetics | High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis | Orrù S., Manolakos E., et all. |
| 59 | April 2012 | Clinical and Experimental Obstetrics and Gynecology | First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review | Manolakos E., Papoulidis I., et all. |
| 60 | February
2012 | Cytogenetic and Genome Research | Tetrasomy 9p mosaicism associated with a normal phenotype in two cases | Papoulidis I., Kontodiou M., Siomou E., Manolakos E., et all. |
| 61 | November
2012 | Molecular Cytogenetics | Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature | Sifakis S., Manolakos E., Kontodiou M., Papoulidis I., et all. |
| 62 | November 2011 | American Journal of Medical Genetics Part A | 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 | Sarri C., Gyftodimou Y., et all. |
| 63 | November 2011 | Archives of Gynecology and Obstetrics | Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review | Peitsidis P., Manolakos E., et all. |
| 64 | June 2011 | American Journal of Medical Genetics Part A, | Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation | Manolakos E., Papoulidis I., et all. |
| 65 | May 2011 | The Journal of Maternal-Fetal & Neonatal Medicine | Turner’s syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review | Bouchlariotou S., Papoulidis I., et all. |
| 66 | April 2011 | Molecular Cytogenetics | Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy | Manolakos E., Sarri C., et all. |
| 67 | January 2011 | International Journal of Pediatric Otorhinolaryngology | Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss | Kokotas H., Gyftodimou Y., et all. |
| 68 | January 2011 | Placenta | Non-trophoblastic tumor of the placenta with combined histologic features of chorangioma and leiomyoma | Miliaras D., Papoulidis I., et all. |
| 69 | November 2010 | Molecular Medicine Reports | Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization | Manolakos E., Papoulidis I., et all. |
| 70 | November 2010 | Molecular Cytogenetics | The use of array-CGH in a cohort of Greek children with developmental delay | Manolakos E., Thomaidis L., et all. |
| 71 | June 2010 | Prenatal Diagnosis | A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth | Papoulidis I., Manolakos E., Siomou E., et all. |
| 72 | April 2010 | The Journal of Obstetrics and Gynaecology Research | Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature | Manolakos E., Petersen M.B., et all. |
| 73 | December 2009 | Cytogenetic and Genome Research | Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) | Manolakos E., Papoulidis I., et all. |
| 74 | September 2009 | Prenatal Diagnosis | Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH | Manolakos E., Papoulidis I., et all. |
| 75 | February 2009 | Molecular Cytogenetics | Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male | itsiou-Tzeli S., Manolakos E., Kontodiou M., et all. |
| 76 | October
2009 | Fetal Diagnosis and Therapy | Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings | Peitsidis P., Manolakos E., et all. |
| 77 | November 2008 | Molecular Cytogenetics | 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 | Manolakos E., Petersen M.B., et all. |
| 78 | September 2008 | American Journal of Medical Genetics Part A | Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population | Bugiani M., Gyftodimou Y., et all. |
| 79 | June 2008 | Prenatal Diagnosis | Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening | Kontos H., Manolakos E., et all. |
| 80 | December 2007 | Human Genetics | Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 | Zollino M., Gyftodimou Y., et all. |
| 81 | October 2006 | Prenatal Diagnosis | Prenatal diagnosis of glycogen storage disease type IV | Akman H.O., Gyftodimou Y., et all. |
| 82 | June
2006 | Histopathology | Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis | Konstantinidou A.E., Gyftodimou Y., et all. |
| 83 | August
2006 | Cytogenetic and Genome Research | Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face | Sarri C., Gyftodimou Y., et all. |
