Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy - sprookjes - yvandenbroek - TriplyDB

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.The continuum of causality in human genetic disorders.Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.The Power of Zebrafish in Personalised Medicine.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.The Role of Peripheral Myelin Protein 2 in Remyelination.Clinical genomics: from a truly personal genome viewpoint.Recent advances in the genetic neuropathies.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.WNK Kinases in Development and Disease.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Production, crystallization and neutron diffraction of fully deuterated human myelin peripheral membrane protein P2.Whole exome association of rare deletions in multiplex oral cleft families.De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2.Understanding mutational effects in digenic diseases Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.From genomic medicine to precision medicine: highlights of 2015.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Genomic disorders 20 years on-mechanisms for clinical manifestations.Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.The role of tRNA synthetases in neurological and neuromuscular disorders.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

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Exome Sequence Analysis Sugges ...... ability and Complex Neuropathy

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Exome Sequence Analysis Sugges ...... ability and Complex Neuropathy

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Exome Sequence Analysis Sugges ...... ability and Complex Neuropathy

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Anne Slavotinek

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Baylor-Hopkins Center for Mendelian Genomics

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Brittany N Flores

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Burcak Ozes

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Davut Pehlivan

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Donna M Muzny

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Ender Karaca

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Esra Battaloglu

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James R Lupski

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P2860

A dynamic network approach for the study of human phenotypes

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

Structural and functional characterization of human peripheral nervous system myelin protein P2

The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

The human disease network

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1169-1183

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Eric Boerwinkle

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