Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

Consensus re‐classification of inherited epidermolysis bullosa and other disorders with skin fragility

(2020) C. Has et al.   BRITISH JOURNAL OF DERMATOLOGY

Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders

(2020) Amir Hossein Saeidian et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

(2019) Sara Guerrero-Aspizua et al.   Orphanet Journal of Rare Diseases

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

(2018) Hassan Vahidnezhad et al.   EXPERIMENTAL DERMATOLOGY

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

(2018) Cristina Has et al.   MATRIX BIOLOGY

Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes

(2018) Yinghong He et al.   MATRIX BIOLOGY

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

(2018) Hassan Vahidnezhad et al.   MATRIX BIOLOGY

The life of U6 small nuclear RNA, from cradle to grave

(2018) Allison L. Didychuk et al.   RNA

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

(2018) Hassan Vahidnezhad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

iDEP: an integrated web application for differential expression and pathway analysis of RNA-Seq data

(2018) Steven Xijin Ge et al.   BMC BIOINFORMATICS

Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

(2018) Hassan Vahidnezhad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring

(2018) Jasmin Kroeger et al.   MATRIX BIOLOGY

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

(2018) Hassan Vahidnezhad et al.   MATRIX BIOLOGY

Stimulation of Pol III-dependent 5S rRNA and U6 snRNA gene expression by AP-1 transcription factors

(2017) Richa Ahuja et al.   FEBS Journal

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

(2017) Hassan Vahidnezhad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2017) Hassan Vahidnezhad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Molecular pathology of the basement membrane zone in heritable blistering diseases:

(2017) Jouni Uitto et al.   MATRIX BIOLOGY

WebGestalt 2017: a more comprehensive, powerful, flexible and interactive gene set enrichment analysis toolkit

(2017) Jing Wang et al.   NUCLEIC ACIDS RESEARCH

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown

(2016) Mihaela Pertea et al.   Nature Protocols

Kindler syndrome, an orphan disease of cell/matrix adhesion in the skin – molecular genetics and therapeutic opportunities

(2016) Leila Youssefian et al.   Expert Opinion on Orphan Drugs

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families

(2015) Leila Youssefian et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

HISAT: a fast spliced aligner with low memory requirements

(2015) Daehwan Kim et al.   NATURE METHODS

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

(2014) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

(2010) Carol Clericuzio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

(2008) Rahima Mostefai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A