Associated Papers
Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome.
Curinha A et al.
The Journal of Cell Biology, 2025
Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.
Belengeanu V et al.
Diagnostics (basel, Switzerland), 2025
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.
Gana S et al.
Journal of Medical Genetics, 2024
Molecular basis promoting centriole triplet microtubule assembly.
Takeda Y et al.
Nature Communications, 2024
Centriole structural integrity defects are a crucial feature of Hydrolethalus Syndrome.
Curinha A et al.
Biorxiv : the Preprint Server for Biology, 2024
Emerging insights into CP110 removal during early steps of ciliogenesis.
Xie S et al.
Journal of Cell Science, 2024
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.
Green TE et al.
Neurobiology of Disease, 2023
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A et al.
Nature Communications, 2023
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Rajala K et al.
Prenatal Diagnosis, 2022
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Ghesh L et al.
Clinical Genetics, 2021
Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKIγ.
Chen C et al.
Science Advances, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 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
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
Oka M et al.
Clinical Genetics, 2016
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.
Honkala H et al.
Pathogenetics, 2009
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
Paetau A et al.
Journal of Neuropathology and Experimental Neurology, 2008
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Mee L et al.
Human Molecular Genetics, 2005