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Publications by Karyn Meltz Steinberg
Exome Sequencing of Case-Unaffected-Parents Trios Reveals Recessive and De Novo Genetic Variants in Sporadic ALS
Scientific Reports
Multidisciplinary
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Exome Sequencing to Identify De Novo Mutations in Sporadic ALS Trios
Nature Neuroscience
Neuroscience
Whole Exome Sequencing Reveals Intertumor Heterogeneity and Distinct Genetic Origins of Sporadic Synchronous Colorectal Cancer
International Journal of Cancer
Cancer Research
Oncology
Using Whole-Exome Sequencing to Identify Variants Inherited From Mosaic Parents
European Journal of Human Genetics
Genetics
Genetic Screening in Sporadic ALS and FTD
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Genetic Mapping and Exome Sequencing Identify Variants Associated With Five Novel Diseases
PLoS ONE
Multidisciplinary
Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa
F1000Research
Genetics
Molecular Biology
Pharmacology
Biochemistry
Microbiology
Immunology
Medicine
Toxicology
Pharmaceutics
Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Genetic Counseling in Direct-To-Consumer Exome Sequencing: A Case Report
Journal of Genetic Counseling
Genetics
CORRIGENDUM: Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Nonsyndromic Deafness in a Large Multiethnic Cohort
Genetics in Medicine
Medicine
Genetics
