Genetics in Medicine · 2021 · 41 citations · 12 references
Life SciencesGeneticsPediatricsMedical GeneticsPediatric GeneticsPediatric OncologyGenetic DisordersGenetic SyndromesGermline Cancer PredispositionHereditary Cancer SyndromesNewborn Genetic ScreeningPediatric Cancer GeneticsGenetic Predisposition To CancerGermline Cancer Predisposition SyndromesNewborn Genomic ScreeningNewborn ScreeningNewborn Screening For Genetic DisordersPediatric Tumor Predisposition SyndromesUniversal Newborn Screening
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Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text
ClinVar: improving access to variant interpretations and supporting evidence
Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text
Reduction in Late Mortality among 5-Year Survivors of Childhood Cancer
Gregory T. Armstrong, Yan Chen, Yutaka Yasui et al. · New England Journal of Medicine · 2016 · 576 citations · Full text
Medicine, Oncology, Pediatrics +16
Newborn Sequencing in Genomic Medicine and Public Health
Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey et al. · PEDIATRICS · 2017 · 235 citations · Full text
Life Sciences, Genetics, Pediatrics +17