Vivian Y. Chang
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Clinical exome sequencing for genetic identification of rare Mendelian disorders.
IMPORTANCE Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders. OBJECTIVE To report on initial clinical indications… Expand
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders
The neurofibromatoses consist of at least three autosomal-dominant inherited disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. For over 80 years, these… Expand
Expanding the mutational spectrum of LZTR1 in schwannomatosis
- I. Paganini, Vivian Y. Chang, +9 authors L. Papi
- Biology, Medicine
- European Journal of Human Genetics
- 1 July 2015
Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, have… Expand
Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.
- Vivian Y. Chang, N. Federman, J. Martinez-Agosto, S. Tatishchev, S. Nelson
- Pediatric blood & cancer
- 1 April 2013
BACKGROUND Gastric adenocarcinoma is a rare diagnosis in childhood. A 14-year-old male patient presented with metastatic gastric adenocarcinoma, and a strong family history of colon cancer. Clinical… Expand
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these… Expand
Distinct Bone Marrow Sources of Pleiotrophin Control Hematopoietic Stem Cell Maintenance and Regeneration.
Bone marrow (BM) perivascular stromal cells and vascular endothelial cells (ECs) are essential for hematopoietic stem cell (HSC) maintenance, but the roles of distinct niche compartments during HSC… Expand
Coexistence of Translocation(1,19) and the Philadelphia Chromosome in a Child's First Presentation of Chronic Myeloid Leukemia in Blast Crisis Treated with Dasatinib
- M. A. Eckardt, Vivian Y. Chang, N. Rao, N. Federman
- Pediatric hematology and oncology
- 24 October 2011
Chronic myelogenous leukemia (CML) constitutes less than 5% of childhood leukemias. The authors describe a rare case of a 14-year-old boy who presented with CML in blast crisis. Unique to this… Expand
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1
Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a… Expand
Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia
BackgroundAcute lymphoblastic leukemia (ALL) diagnosed within the first month of life is classified as congenital ALL and has a significantly worse outcome than ALL diagnosed in older children. This… Expand
Pharmacogenetics of Chemotherapy-Induced Cardiotoxicity
Purpose of ReviewThe goal of this review is to summarize current understanding of pharmacogenetics and pharmacogenomics in chemotherapy-induced cardiotoxicity.Recent FindingsMost of the studies rely… Expand