Lista de obras -

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado el 22 de junio de 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

CATCHing putative causative variants in consanguineous families

artículo científico publicado en 2015

Choking Fits During Sleep Related to Epilepsy.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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.

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

artículo científico publicado en 2014

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

artículo científico publicado el 18 de abril de 2012

From sequence to functional understanding: the difficult road ahead

artículo científico publicado en 2011

High-throughput sequencing and rare genetic diseases.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Pathogenic variants in non-protein-coding sequences.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Lista de obras de

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