about
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)The essential role of centrosomal NDE1 in human cerebral cortex neurogenesisBrown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationHEATR2 plays a conserved role in assembly of the ciliary motile apparatusSAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanCCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementEpilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsABCA12 is the major harlequin ichthyosis geneThe 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2AVariation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotypeA tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).T (brachyury) gene duplication confers major susceptibility to familial chordoma.Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia riskHomozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaGenetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityNext generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombinationClinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.Extensive gene conversion at the PMS2 DNA mismatch repair locus.Illuminator, a desktop program for mutation detection using short-read clonal sequencing.High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study.Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.Genetic diagnosis of familial breast cancer using clonal sequencing.
P50
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P50
description
hulumtues
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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Eamonn Sheridan
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P106
P1153
55778501400