Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
39944418 (PubMed )
Supplement: mmc1.docx
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Bessis D et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
Dard L et al.
The Journal of Clinical Investigation, 2022
35230976 (PubMed )
Supplement: jci-132-131053-s133.pdf
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
Nagai K et al.
Human Mutation, 2022
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C et al.
Frontiers in Endocrinology, 2021
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
Gripp KW et al.
European Journal of Human Genetics : Ejhg, 2020
Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.
Xu F et al.
Clinical and Experimental Dermatology, 2015
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
Lorenz S et al.
Human Molecular Genetics, 2013
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