Associated Papers
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
Alrifai MT et al.
Journal of Child Neurology, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D et al.
American Journal of Human Genetics, 2019
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
Jensen LR et al.
European Journal of Human Genetics : Ejhg, 2011
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