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Annual review of genomics and human genetics, ISSN 1527-8204, 8/2019, Volume 20, Issue 1, pp. 241 - 263
Developments over the past five years have significantly advanced our ability to use genome-scale analyses-including high-density genotyping, transcriptome... 
chromatin remodeling | genome sequencing | cancer genetics | genome-wide association study | pediatric cancer | Chromatin | Analysis | Oncology, Experimental | Genomics | Genetic research | Genetic aspects | Research | Cancer in children | Cancer | Pediatrics | Genotyping | Genomes | Single-nucleotide polymorphism | Children | Neurodevelopmental disorders | Gene expression | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0179006 - e0179006
Journal Article
Human Mutation, ISSN 1059-7794, 01/2019, Volume 40, Issue 1, pp. 73 - 89
MicroRNA (miRNA) expression is frequently deregulated in human disease, in contrast, disease‐associated miRNA mutations are understudied. We developed A... 
variant annotation | genomics | microRNA | conservation | cancer | DETERMINANTS | GENOME | GENETIC-VARIATION | EVOLUTION | POLYMORPHISMS | DATABASE | SEED REGION | MUTATION | SEQUENCE | GENETICS & HEREDITY | PROGRESSION | Prevention | Deregulation | MicroRNA | Analysis | Genes | Genomics | Research institutes | Gene expression | Cancer | Datasets | Conserved sequence | MicroRNAs | MiRNA | Genomes | Genetic diversity | Mutation | Variation | Esophagus
Journal Article
Journal of the National Cancer Institute, ISSN 0027-8874, 10/2018, Volume 110, Issue 10, pp. 1133 - 1134
Journal Article
Ophthalmology, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, pp. e64 - e65
Journal Article
Ophthalmology, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, pp. e64 - e65
Journal Article
Ophthalmology, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, pp. e64 - e65
Journal Article
Human Mutation, ISSN 1059-7794, 01/2019, Volume 40, Issue 1, pp. i - i
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 08/2019, Volume 66, Issue 8, pp. e27779 - n/a
Telomere biology disorders predispose affected individuals to specific malignancies and organ fibrosis in tissues sensitive to telomere length (TL) shortening,... 
molecular genetics | Hodgkin disease | telomerase | MDS | late effects of cancer treatment | lymphoma | CELLS | LENGTH | CANCER | CHEMOTHERAPY | ONCOLOGY | DNA | DYSKERATOSIS-CONGENITA | ANTICIPATION | PEDIATRICS | HEMATOLOGY | Telomeres | Chemotherapy | Lymphomas | Drug therapy | Cancer | Lymphocytes | Toxicity | Fibrosis | Peripheral blood | Radiation | Case reports | Lymphoma | Hodgkin's disease | Index Medicus
Journal Article
Ophthalmology, ISSN 0161-6420, 03/2018, Volume 125, Issue 3, pp. 453 - 458
Purpose: To provide a set of surveillance guidelines for children at risk for development of retinoblastoma. Design: Consensus panel. Participants: Expert... 
FAMILIAL RETINOBLASTOMA | OPHTHALMOLOGY | GENETICS | GUIDELINES | Index Medicus
Journal Article
Molecular Cancer Therapeutics, ISSN 1535-7163, 12/2015, Volume 14, Issue 12 Supplement 2, pp. ED02-04 - ED02-04
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1507 - 1516
Purpose: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity... 
cancer | NGS | validity | classification | ClinGen | ASSOCIATIONS | GENETICS & HEREDITY | GERMLINE MUTATIONS | HPMS2 | PREVALENCE | Validity | Laboratories | Genes | Colorectal cancer | Index Medicus
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 01/2017, Volume 180, pp. 115 - 115
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 625 - 630
Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. Type 2... 
RECQL4 | splicing variant | anaphase-promoting complex | alternative splicing | poikiloderma | Rothmund-Thomson syndrome | cataracts | ANAPC1 | pseudoexon | cryptic splice site | Gene mutations | Physiological aspects | Genetic aspects | Research | Helicases | Risk factors | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1497 - 1506
Purpose: Several genes on hereditary breast and ovarian cancer susceptibility test panels have not been systematically examined for strength of association... 
hereditary breast and ovarian cancer | classification | ClinGen | gene validity | gene test panels | ASSOCIATIONS | NEOPLASMS | TUMOR | WOMEN | GERMLINE RECQL MUTATIONS | INCREASED RISK | PREDISPOSITION | GENETICS & HEREDITY | NEUROFIBROMATOSIS TYPE-1 | Validity | Breast cancer | Genes | Ovarian cancer | Index Medicus
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 498 - 504
Diagnostic genome-wide sequencing (exome or genome sequencing and data analysis for high-penetrance disease-causing variants) in acutely ill infants appears to... 
STATEMENT | COST-EFFECTIVENESS | QALYS | CARE | CHILDREN | Health policy | CLINICAL UTILITY | Neonatal intensive care unit | RECOMMENDATIONS | Exome sequencing | GENETICS & HEREDITY | DISABILITY | genome sequencing | HEALTH
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 06/2019
We describe parental perceptions of and experiences with genomic sequencing (GS) in the care of seriously ill children. Understanding parents' perspectives is... 
Journal Article
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