Associated Papers
Segmental macular hyperpigmentation: new genes, new clinical implications.
Kinsler VA et al.
The British Journal of Dermatology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › ClinVar_annotated
Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.
Jeong Y
Leukemia & Lymphoma, 2025
39819262 (PubMed )
Supplement: supplement_1.pdf
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
39091798 (PubMed )
Supplement: media-6.xlsx › Clinical_Variants
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2
Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.
Jakobsen NA et al.
Cell Stem Cell, 2024
38917807 (PubMed )
Supplement: mmc3.xlsx › Table_S2b
Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.
Zhang B et al.
Pediatric Investigation, 2024
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.
Polubothu S et al.
The Journal of Investigative Dermatology, 2023
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
30355600 (PubMed )
Supplement: supp_gr.239186.118_Supplemental_Table_S3.xlsx › Table_of_prioritized_calls
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR et al.
Bmc Medical Genetics, 2014
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