Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Cancer Genomics and Diagnostics, and Neuroblastoma Research and Treatments.
Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric <i>NF2</i> -, <i>SMARCB1</i> -, and <i>LZTR1</i> -Related Schwannomatosis
Update on Pediatric Surveillance Recommendations for <i>PTEN</i> Hamartoma Tumor Syndrome, <i>DICER1-</i> Related Tumor Predisposition, and Tuberous Sclerosis Complex
Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies
Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy
Update on Genetic Counselor Practice and Recommendations for Pediatric Cancer Predisposition Evaluation and Surveillance
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing <i>SMAD4</i>/<i>BMPR1A</i> Variant
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
Retinoblastoma and Neuroblastoma Predisposition and Surveillance
Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Experiences with obtaining informed consent for genomic sequencing
Parent decision‐making around the genetic testing of children for germline <i>TP53</i> mutations