List of works - Periklis Makrythanasis

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

scientific article published on 7 November 2015

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

scientific article published on 8 October 2010

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

scientific article published on 28 June 2014

Adhesion molecules and high-sensitivity C-reactive protein levels in patients with sickle cell beta-thalassaemia

scientific article published on 25 May 2011

An unusual case of cat‐eye syndrome phenotype and extragonadal mature teratoma: Review of the literature ⬇️

scientific article published on June 22, 2012

Analysis of the Born in Bradford birth cohort

scientific article published on 01 January 2014

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

scientific article published on 12 March 2013

Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population.

scientific article

Association of TLR4 single-nucleotide polymorphisms and sarcoidosis in Greek patients.

scientific article published in December 2009

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

scientific article published on 16 November 2016

Awareness of prenatal screening for fetal aneuploidy among pregnant women in Greece

scientific article published in January 2015

BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients

scientific article

CATCHing putative causative variants in consanguineous families

scientific article

Choking Fits During Sleep Related to Epilepsy.

scientific article published on 3 May 2016

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

scientific article published on 5 August 2010

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

article

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

scientific article published on 14 June 2013

Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients

scientific article published on 01 August 2010

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

scientific article published on 28 August 2015

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

scientific article published on 5 January 2010

Defining categories of actionability for secondary findings in next-generation sequencing.

scientific article

Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.

scientific article published on 19 April 2007

Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients

scientific article published on 10 September 2009

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

scientific article published on 18 August 2014

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

scientific article published on 13 February 2014

Efficient targeted transcript discovery via array-based normalization of RACE libraries

scientific article

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

scientific article published on 16 July 2016

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

scientific article published on 30 August 2014

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

scientific article published on 27 April 2015

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

scientific article published on 28 June 2016

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

scientific article

Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus ⬇️

scientific article published on April 18, 2012

From sequence to functional understanding: the difficult road ahead

scientific article

High-throughput sequencing and rare genetic diseases.

scientific article

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

scientific article

Knowledge and attitudes towards prenatal diagnostic procedures among pregnant women in Greece

scientific article published on 09 March 2010

Long term follow up of a woman with classic form of Ehlers-Danlos syndrome associated with rare manifestations and review of the literature.

scientific article published on January 2010

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

scientific article

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

scientific article published on 26 April 2013

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

scientific article

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

scientific article published on 13 May 2013

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

scientific article

Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion

scientific article published on 29 April 2010

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation

scientific article published on 01 July 2010

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

scientific article published on 15 March 2016

Pathogenic variants in non-protein-coding sequences.

scientific article published on 23 September 2013

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

scientific article

Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.

scientific article published on 12 November 2011

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

scientific article published on 03 January 2014

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

scientific article

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

scientific article published on 29 January 2015

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

scientific article published on September 2009

List of works by Periklis Makrythanasis

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

Adhesion molecules and high-sensitivity C-reactive protein levels in patients with sickle cell beta-thalassaemia

An unusual case of cat‐eye syndrome phenotype and extragonadal mature teratoma: Review of the literature ⬇️

Analysis of the Born in Bradford birth cohort

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population.

Association of TLR4 single-nucleotide polymorphisms and sarcoidosis in Greek patients.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Awareness of prenatal screening for fetal aneuploidy among pregnant women in Greece

BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients

CATCHing putative causative variants in consanguineous families

Choking Fits During Sleep Related to Epilepsy.

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

Defining categories of actionability for secondary findings in next-generation sequencing.

Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.

Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Efficient targeted transcript discovery via array-based normalization of RACE libraries

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus ⬇️

From sequence to functional understanding: the difficult road ahead

High-throughput sequencing and rare genetic diseases.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Knowledge and attitudes towards prenatal diagnostic procedures among pregnant women in Greece

Long term follow up of a woman with classic form of Ehlers-Danlos syndrome associated with rare manifestations and review of the literature.

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Pathogenic variants in non-protein-coding sequences.

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls