Associated Papers
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_33
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Iida T et al.
Frontiers in Genetics, 2024
38601074 (PubMed )
Supplement: Table3.XLSX › p.Gly23Val
Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Becher N et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2020
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM et al.
European Journal of Pediatrics, 2019
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.
Stanley CM et al.
Human Mutation, 2014
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
Burkitt-Wright EM et al.
American Journal of Medical Genetics. Part A, 2012
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
Gripp KW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
Rosenberger G et al.
Human Mutation, 2009
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