Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG23
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Martino J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
Bartik ZI et al.
Plos One, 2022
36417404 (PubMed )
Supplement: pone.0277524.s006.xlsx › Supplemental_table_S4
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.
Vidic C et al.
Molecular and Cellular Pediatrics, 2021
34608560 (PubMed )
Supplement: 40348_2021_122_MOESM4_ESM.xlsx › Tabelle1
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L et al.
Journal of the American Society of Nephrology : Jasn, 2017
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Lee JYW et al.
American Journal of Human Genetics, 2017
Mutations in DSTYK and dominant urinary tract malformations.
Sanna-Cherchi S et al.
The New England Journal of Medicine, 2013
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