Associated Papers
Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.
de Vries JM et al.
European Journal of Human Genetics : Ejhg, 2026
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 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
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
Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort.
Weller K et al.
Prenatal Diagnosis, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 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
Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.
Ferraro F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Prenatal exome sequencing in fetuses with congenital heart defects.
Li R et al.
Clinical Genetics, 2020
Understanding the Mechanism of Recognition of Gab2 by the N-SH2 Domain of SHP2.
Visconti L et al.
Life (basel, Switzerland), 2020
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.
Atik T et al.
Indian Journal of Pediatrics, 2016