Associated Papers
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Alfayyadh MM et al.
Clinical Genetics, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
First East Asian case of uncombable hair syndrome.
Li Y et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2024
Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.
Villacis RAR et al.
International Journal of Molecular Sciences, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Deimination in epidermal barrier and hair formation.
Méchin MC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
Breet H et al.
American Journal of Medical Genetics. Part A, 2023
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB et al.
Jama Dermatology, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Uncombable hair syndrome and beyond.
Alsabbagh MM
Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB et al.
American Journal of Human Genetics, 2016
[Association of an uncombable hair syndrome and Wilson's disease].
Gonin J et al.
Annales De Pediatrie, 1984
Two siblings with uncombable hair syndrome: A new pathogenic variant.
Calvo-Asín C et al.
Pediatric Dermatology, 0
[Translated article] Uncombable Hair Syndrome Type 1.
Olaz Cecilia L et al.
Actas Dermo-sifiliograficas, 0