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
Uncombable hair syndrome: burdensome or captivating?
Heyers A et al.
Clinical and Experimental Dermatology, 2024
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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 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
The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data.
Veneruso I et al.
Genes, 2023
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.
Mortensen Ó et al.
European Journal of Human Genetics : Ejhg, 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
A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome.
Drivenes JL et al.
Lancet (london, England), 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
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