Associated Papers
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report.
Koga N et al.
Journal of Medical Case Reports, 2025
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
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
Guijarro F et al.
International Journal of Molecular Sciences, 2024
RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.
Makhamreh MM et al.
American Journal of Medical Genetics. Part A, 2024
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations.
Sheng L et al.
Open Medicine (warsaw, Poland), 2023
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.
Fornerod M et al.
Blood Cancer Discovery, 2021
Rosette-Forming Glioneuronal Tumor in the Pineal Region: A Series of 6 Cases and Literature Review.
Lin CC et al.
Journal of Neuropathology and Experimental Neurology, 2021
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN et al.
The New England Journal of Medicine, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
Stuurman KE et al.
Journal of Medical Genetics, 2019
Age-Dependent De Novo Mutations During Spermatogenesis and Their Consequences.
Cioppi F et al.
Advances in Experimental Medicine and Biology, 2019
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017