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Hum Pathol. 2014 Apr 24. [Epub ahead of print]
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
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Orphanet J Rare Dis. 2014 Jun 7;9(1):80.
Rare complement factor H variant associated with age-related macular degeneration in the Amish.
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Invest Ophthalmol Vis Sci. 2014 Jun 6. [Epub ahead of print]
HITS-CLIP reveals key regulators of nuclear receptor signaling in breast cancer.
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
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Am J Hum Genet. 2014 Jun 5;94(6):915-923.
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
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Am J Hum Genet. 2014 Jun 5;94(6):870-883.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
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Am J Hum Genet. 2014 Jun 5;94(6):809-817.
ARMC5 mutations are common in familial bilateral macronodulcar adrenal hyperplasia.
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J Clin Endocrinol Metab. 2014 Jun 6 [Epub ahead of print]
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
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Epilepsia. 2014 Jun 5. [Epub ahead of print]
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
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Genet Med. 2014 Jun 5. [Epub ahead of print]
The usefulness of whole-exome sequencing in routine clinical practice.
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Genet Med. 2014 Jun 5. [Epub ahead of print]
Next generation sequencing of translocation renal cell carcinomas reveals novel RNA splicing partners and frequent mutations of chromatin remodeling genes.
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Clin Cancer Res. 2014 Jun 4. [Epub ahead of print]
A cloud-compatible bioinformatics pipeline for ultrarapid pathogen identification from next-generation sequencing of clinical samples.
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Genome Res. 2014 Jun 4. [Epub ahead of print]
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
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Acta Neuropathol. 2014 Jun 5. [Epub ahead of print]
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
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Hum Mol Genet. 2014 Jun 4. [Epub ahead of print]
Characterization of a novel HLA-A*33 allele, A*33:47, using next-generation sequencing.
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Tissue Antigens. 2014 Jun 5. [Epub ahead of print]
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
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BMC Med Genet. 2014 Jun 4;15(1):64.
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
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Am J Med Genet A. 2014 Jun 4. [Epub ahead of print]
Deep Sequencing reveals new aspects of progesterone receptor signaling in breast cancer cells.
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PLOS One. 2014 Jun 4;9(6):e98404.
Deep sequencing of cancer-related genes revealed GNAS mutations to be associated with intraductal papillary mucinous neoplasms and its main pancreatic duct dilation.
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PLOS One. 2014 Jun 4;9(6):e98718.
Pregnancy's stronghold on the vaginal microbiome.
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PLOS One. 2014 Jun 4;9(6):e98514.
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N Engl J Med. 2014 Jun 4. [Epub ahead of print]
Genome sequencing identifies major causes of severe intellectual disability.
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Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers.
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BMC Med Genomics. 2014 Jun 4;7(1):32.
EGFR variant heterogeneity in glioblastoma resolved through single-nucleus sequencing.
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Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.
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Transl Psychiatry. 2014 Jun 3;4:e394.
Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene.
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Clin Chim Acta. 2014 May 31. [Epub ahead of print]
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
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SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.
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J Med Genet. 2014 Jun 2. [Epub ahead of print]
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
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J Lipid Res. 2014 Jun 2. [Epub ahead of print]
Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.
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Improved detection of emerging drug-resistant mutant cytomegalovirus subpopulations by deep sequencing.
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Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
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Whole-genome sequencing to detect recent transmission of Mycobacterium tuberculosis in settings with a high burden of tuberculosis.
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Novel NFKB2 mutation in early-onset CVID.
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J Clin Immunol. 2014 Jun 3. [Epub ahead of print]
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism.
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Genome Biol. 2014 May 23;15(5):R71.
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De novo SOX11 mutations cause Coffin-Siris syndrome.
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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
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BMC Med Genet. 2014 May 2;15(1):51.
De novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
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BMC Med Genet. 2014 May 1;15(1):49.
Implementation of cloud based next generation sequencing data analysis in a clinical laboratory.
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BMC Res Notes. 2014 May 23;7(1):314.
Identification of candidate risk gene variations by whole-genome sequence analysis of four rat strains commonly used in inflammation research.
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BMC Genomics. 2014 May 21;15(1):391.
Detection of a divergent parainfluenza 4 virus in an adult patient with influenza like illness using next-generation sequencing.
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BMC Infect Dis. 2014 May 19;14(1):275.
Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.
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BMC Med Genomics. 2014 May 15;7(1):24.
Fast multiclonal clusterization of V(D)J recombinations from high-throughput sequencing.
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BMC Genomics. 2014 May 28;15(1):409.
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
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BMC Med Genomics. 2014 May 12;7(1):22.
Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads.
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BMC Genomics. 2014 May 1;15(1):325.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
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Am J Hum Genet. 2014 Jun 5;94(6):905-914.