Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.
Higashino T et al.
The Journal of Dermatology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
Savostyanov K et al.
International Journal of Molecular Sciences, 2022
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA et al.
European Journal of Medical Genetics, 2019
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
[Genodermatoses - pathogenesis and molecular diagnostics].
Wertheim-Tysarowska K
Postepy Biochemii, 2018
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
Acral peeling skin syndrome associated with a novel CSTA gene mutation.
Muttardi K et al.
Clinical and Experimental Dermatology, 2016
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ et al.
Experimental Dermatology, 2015
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Szczecinska W et al.
The British Journal of Dermatology, 2014
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy.
Kavaklieva S et al.
Case Reports in Dermatology, 2013
Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa.
Bruckner-Tuderman L et al.
The Journal of Investigative Dermatology, 2012
Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis Bullosa.
Bruckner-Tuderman L et al.
The Journal of Investigative Dermatology, 2012
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Pigors M et al.
The Journal of Investigative Dermatology, 2012
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
van der Velden JJ et al.
Journal of Dermatological Science, 2012
[Epidermolysis bullosa : Diagnosis and therapy].
Has C et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2011
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
Kiritsi D et al.
The Journal of Investigative Dermatology, 2010
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
Kharfi M et al.
The Journal of Investigative Dermatology, 2009
Molecular and diagnostic aspects of genetic skin fragility.
Has C et al.
Journal of Dermatological Science, 2006
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Cassidy AJ et al.
American Journal of Human Genetics, 2005
[Epidermal barrier - molecular structure and disorders in selected ichthyoses].
Śniegórska D et al.
Postepy Biochemii, 0