From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.

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http://www.wikidata.org/entity/Q38080441
Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applicationsA mutation in the c-fos gene associated with congenital generalized lipodystrophy.A Case for Returning to Multiplex Families for Further Understanding the Heritability of Schizophrenia: A Psychiatrist's Perspective.Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.Genomic medicine: a decade of successes, challenges, and opportunities.Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.Novel variants in ZNF34 and other brain-expressed transcription factors are shared among early-onset MDD relatives.Evidence of Sex-Linked Familial Transmission of Lateral Preferences for Hand, Foot, Eye, Ear, and Overall Sidedness in a Latent Variable Analysis.The Rise and Rise of Exome Sequencing.Development of the adverse outcome pathway "alkylation of DNA in male premeiotic germ cells leading to heritable mutations" using the OECD's users' handbook supplement.Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.Genetic determinants of heart failure: facts and numbers.DNA hypomethylation in plasma as a cancer biomarker: when less is more?
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From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.

Item
http://www.wikidata.org/entity/Q38080441
description
article científic
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From the periphery to centre s ...... role in human genetic disease.
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From the periphery to centre s ...... role in human genetic disease.
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From the periphery to centre s ...... role in human genetic disease.
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From the periphery to centre s ...... role in human genetic disease.
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P2093
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10.1136/JMEDGENET-2013-101519
P407
P433
P478
P50
P577
P698