List of works - Leila Youssefian

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

scientific article published on 29 November 2018

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

scientific article published on 6 December 2017

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

scientific article published on 10 December 2020

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

scientific article published on 6 September 2017

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

scientific article published on 28 September 2016

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

scientific article published on 27 October 2016

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

scientific article published on 20 July 2018

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

scientific article published on 01 August 2017

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

scientific article

Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.

scientific article published on 23 January 2015

GGCX mutations in a patient with PXE/CL-like overlapping phenotype

scientific article published on 30 September 2020

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

scientific article published on 21 November 2016

Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa

scientific article published on 01 May 2016

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

scientific article published on 01 January 2017

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing

scientific article published on 27 September 2019

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

scientific article published on 07 March 2015

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

scientific article published on 01 May 2019

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

scientific article published on 07 June 2016

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

scientific article published on 02 November 2020

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

scientific article published on 13 August 2015

Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.

scientific article published in March 2015

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

scientific article published on 20 January 2020

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

scientific article published on 15 October 2016

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

article

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

scientific article

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

scientific article published on 19 August 2017

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.

scientific article

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

scientific article published on 12 April 2017

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

scientific article published in 2022

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

scientific article published on 11 November 2017

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

scientific article published on 19 January 2015

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions

scientific article published on 22 April 2022

List of works by Leila Youssefian

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.

GGCX mutations in a patient with PXE/CL-like overlapping phenotype

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions