Associated Papers
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.
Jiang Y et al.
Prenatal Diagnosis, 2026
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 2025
The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.
Yin K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Mutant RIT1 cooperates with YAP to drive an EMT-like lung cancer state.
Rominger MC et al.
Cell Reports, 2025
A microglia clonal inflammatory disorder in Alzheimer's disease.
Vicario R et al.
Elife, 2025
Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease.
Verbeke M et al.
Scientific Reports, 2025
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 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
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Al-Kouatly HB et al.
Clinical Genetics, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.
Tano S et al.
Molecular Genetics and Metabolism Reports, 2022
Designing Myeloid Gene Panels.
Zhao F et al.
Archives of Pathology & Laboratory Medicine, 2022
Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.
Qiu Z et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer.
Vichas A et al.
Nature Communications, 2021
Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
Miceikaite I et al.
Clinical Case Reports, 2021
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 2021
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.
Lier A et al.
Jco Precision Oncology, 2018
JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis.
Choi MY et al.
Cancer Biology & Therapy, 2018
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
Meyer Zum Büschenfelde U et al.
Plos Genetics, 2018
Response to: Milosavljevic et al. "Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature".
Stevens B et al.
American Journal of Medical Genetics. Part A, 2017
Whole-transcriptome sequencing identifies a distinct subtype of acute lymphoblastic leukemia with predominant genomic abnormalities of EP300 and CREBBP.
Qian M et al.
Genome Research, 2017
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Milosavljević D et al.
American Journal of Medical Genetics. Part A, 2016