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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 indicationsExpand
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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, theseExpand
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Expanding the mutational spectrum of LZTR1 in schwannomatosis
Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, haveExpand
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Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.
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. ClinicalExpand
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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 theseExpand
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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 HSCExpand
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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
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 thisExpand
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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 aExpand
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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. ThisExpand
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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 relyExpand
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