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Keyword Connections - exome sequencing Keywords

Connection Type	Connection
Journals	kennedy institute of ethics journal Cells Journal of genetic counseling the journal of pathology bipolar disorders american journal of medical genetics part a Genetics in medicine : official journal of the American College of Medical Genetics the journal of allergy and clinical immunology families, systems & health : the journal of collaborative family healthcare
Research Groups	No Research Group Connected
Bibliographies	[1] Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology. [2] Direct primary care-Where does integrated behavioral health fit? [3] Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. [4] Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance. [5] Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. [6] When is the Promotion of Prenatal Testing for Selective Abortion Wrong? [7] Ethical Concerns with Applied Behavior Analysis for Autism Spectrum "Disorder". [8] Contextual Injustice. [9] trio clinical exome sequencing in a patient with multicentric carpotarsal osteolysis syndrome: first case report in the balkans [10] a chinese family with axenfeld-rieger syndrome: report of the clinical and genetic findings [11] effect of next-generation exome sequencing depth for discovery of diagnostic variants [12] a combined linkage and exome sequencing analysis for electrocardiogram parameters in the erasmus rucphen family study [13] exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways [14] fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate [15] VCF/Plotein: Visualisation and prioritisation of genomic variants from human exome sequencing projects. [16] Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. [17] A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing. [18] Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa. [19] Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. [20] Primary care physicians' understanding and utilization of pediatric exome sequencing results. [21] Clinical application of whole exome sequencing in monogenic hereditary disorders in critically ill newborns [22] Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes [23] Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders [24] Criteria for reporting incidental findings in clinical exome sequencing - A focus group study on professional practices and perspectives in Belgian genetic centres [25] Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. [26] Whole Exome Sequencing Identifies a Novel Pathogenic Variation [p.(Gly194Valfs*7)] in SLC45A2 in the Homozygous State in Multiple Members of a Family in Southern India Affected with Oculocutaneous Albinism. [27] Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. [28] Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges. [29] Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. [30] the number of candidate variants in exome sequencing for mendelian disease under no genetic heterogeneity [31] whole exome sequencing reveals severe thrombophilia in acute unprovoked idiopathic fatal pulmonary embolism [32] trio clinical exome sequencing in a patient with multicentric carpotarsal osteolysis syndrome: first case report in the balkans [33] a survey of computational tools to analyze and interpret whole exome sequencing data [34] identification of a case of srd5a3-congenital disorder of glycosylation (cdg1q) by exome sequencing [35] effect of next-generation exome sequencing depth for discovery of diagnostic variants [36] a combined linkage and exome sequencing analysis for electrocardiogram parameters in the erasmus rucphen family study [37] exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways [38] identification of a novel collagen type iv alpha-4 (col4a4) mutation in a chinese family with autosomal dominant alport syndrome using exome sequencing [39] balsa: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by gpu [40] thiamine pyrophosphokinase deficiency causes a leigh disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies [41] whole exome sequencing reveals compound heterozygosity for ethnically distinct pex7 mutations responsible for rhizomelic chondrodysplasia punctata, type 1 [42] exome sequencing for mucolipidosis iii: detection of a novel gnptab gene mutation in a patient with a very mild phenotype [43] an atypical presentation of acad9 deficiency: diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach