Differences in the composition of the human antibody repertoire by B cell subsets in the blood.
Mroczek ES, Ippolito GC, Rogosch T, Hoi KH, et al.
Front Immunol. 2014 Mar 19;5:96.
A176: deep sequencing reveals differential small RNA expression in serum exosomes of children with juvenile idiopathic arthritis.
Jiang K, Hu Z, Chen Y, Jarvis JN.
Arthritis Rheumatol. 2014 Mar;66 Suppl 11:S230.
A157: Macrophage Activation Syndrome-like Illness Due to an Activating Mutation in NLRC4.
Canna S, de Jesus AA, Deng Z, Gouni S, et al.
Arthritis Rheumatol. 2014 Mar;66 Suppl 11:S203.
A121: in search of infectious triggers of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome.
Freeman S, Bhatt A, Pedamallu C, King S, et al.
Arthritis Rheumatol. 2014 Mar;66 Suppl 11:S158.
A119: deep sequencing analysis of the T regulatory and T effector repertoire in juvenile idiopathic arthritis.
Henderson LA, Volpi S, Frugoni F, Kim S, et al.
Arthritis Rheumatol. 2014 Mar;66 Suppl 11:S156.
Jannovar: A Java Library for Exome Annotation.
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Hum Mutat. 2014 Feb 17. [Epub ahead of print]
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
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Am J Med Genet A. 2014 Mar 26. [Epub ahead of print]
Identification of Novel Transcription Factors in Osteoclast Differentiation using Genome-wide Analysis of Open Chromatin Determined by DNase-seq.
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J Bone Miner Res. 2014 Mar 28. [Epub ahead of print]
Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene.
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J Mol Neurosci. 2014 Mar 28. [Epub ahead of print]
Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma.
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Prenat Diagn. 2014 Mar 27. [Epub ahead of print]
Opportunities and challenges of next-generation DNA sequencing for breast units.
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Br J Surg. 2014 Mar 27. [Epub ahead of print]
Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS.
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J Am Soc Nephrol. 2014 Mar 27. [Epub ahead of print]
Mutations in PAX2 Associate with Adult-Onset FSGS.
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J Am Soc Nephrol. 2014 Mar 27. [Epub ahead of print]
Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing.
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Acta Derm Venereol. 2014 Mar 25. [Epub ahead of print]
Expanding the phenotype of mutations in DICER1: mosiac missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.
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J Med Genet. 2014 Mar 27. [Epub ahead of print]
Changes in Colorectal Carcinoma Genomes under Anti-EGFR Therapy Identified by Whole-Genome Plasma DNA Sequencing.
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PLOS Genet. 2014 Mar 27;10(3):e1004271.
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome.
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, et al.
PLOS Genet. 2014 Mar 27;10(3):e1004258.
Bacterial Profile of Dentine Caries and the Impact of pH on Bacterial Population Diversity.
Kianoush N, Adler CJ, Nguyen KA, Browne GV, et al.
PLOS One. 2014 Mar 27;9(3):e92940.
CDKN2D-WDFY2 Is a Cancer-Specific Fusion Gene Recurrent in High-Grade Serous Ovarian Carcinoma.
Kannan K, Coarfa C, Rajapakshe K, Hawkins SM, et al.
PLOS Genet. 2014 Mar 27;10(3):e1004216.
A single center's experience with noninvasive prenatal testing.
Beamon CJ, Hardisty EE, Harris SC, Vora NL.
Genet Med. 2014 Mar 27. [Epub ahead of print]
Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis.
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Genet Med. 2014 Mar 27. [Epub ahead of print]
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.
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Cancer Res. 2014 Mar 27. [Epub ahead of print]
Detection of an activated JAK3 variant and a Xq26.3 microdeletion causing loss of PHF6 and miR-424 expression in myelodysplastic syndromes by combined targeted next generation sequencing and SNP array analysis.
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Pathol Res Pract. 2014 Feb 23. [Epub ahead of print]
Sensitive and specific detection of EML4-ALK rearrangements in non-small cell lung cancer (NSCLC) specimens by multiplex amplicon RNA massive parallel sequencing.
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Lung Cancer. 2014 Mar 13. [Epub ahead of print]
Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts.
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Br J Haematol. 2014 Mar 27. [Epub ahead of print]
Views of Primary Care Providers Regarding the Return of Genome Sequencing Incidental Findings.
Strong KA, Zusevics KL, Bick D, Veith R.
Clin Genet. 2014 Mar 27. [Epub ahead of print]
Mining genome sequencing data to identify the genomic features linked to breast cancer histopathology.
Ping Z, Siegal GP, Almeida JS, Schnitt SJ, Shen D.
J Pathol Inform. 2014 Jan 31;5:3.
Massive parallel sequencing provides new perspectives on bacterial brain abscesses.
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J Clin Microbiol. 2014 Mar 26. [Epub ahead of print]
Genetic Counselors' Views and Experiences with the Clinical Integration of Genome Sequencing.
Machini K, Douglas J, Braxton A, Tsipis J, Kramer K.
J Genet Couns. 2014 Mar 28. [Epub ahead of print]
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.
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J Med Genet. 2014 Mar 26. [Epub ahead of print]
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.
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Nat Commun. 2014 Mar 27;5:3518.
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Jin ZB, Huang XF, Lv JN, Xiang L, et al.
Nat Commun. 2014 Mar 27;5:3517.
REST and stress resistance in ageing and Alzheimer's disease.
Lu T, Aron L, Zullo J, Pan Y, et al.
Nature. 2014 Mar 27;507(7493):448-54.
Whole-genome sequencing in newborn screening programs.
Knoppers BM, Sénécal K, Borry P, Avard D.
Sci Transl Med. 2014 Mar 26;6(229):229cm2.
Identification of genomic alterations in oesophageal squamous cell cancer.
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Nature. 2014 Mar 16. [Epub ahead of print]
Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudinal ligament of the cervical spine in Chinese patients.
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Genet Mol Res. 2014 Mar 17;13(1):1794-804.
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
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Am J Med Genet A. 2014 Mar 25. [Epub ahead of print]
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
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Am J Med Genet A. 2014 Mar 25. [Epub ahead of print]
Novel insight into mutational landscape of head and neck squamous cell carcinoma.
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PLOS One. 2014 Mar 25;9(3):e93102.
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Eur J Hum Genet. 2014 Mar 26. [Epub ahead of print]
Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy.
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Clin Chim Acta. 2014 Mar 22. [Epub ahead of print]
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
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Genome Biol. 2014 Mar 25;15(3):R53.
Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
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Am J Med Genet A. 2014 Mar 24. [Epub ahead of print]
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
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JIMD Rep. 2014 Mar 25. [Epub ahead of print]
Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process.
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J Genet Couns. 2014 Mar 25. [Epub ahead of print]
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies-A Price Comparison with Sanger Sequencing.
Schorderet DF, Bernasconi M, Tiab L, Favez T, Escher P.
Adv Exp Med Biol. 2014;801:171-6.
Mutation K42E in Dehydrodolichol Diphosphate Synthase (DHDDS) Causes Recessive Retinitis Pigmentosa.
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Adv Exp Med Biol. 2014;801:165-70.
Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, et al.
Adv Exp Med Biol. 2014;801:123-9.
Copy number alterations and neoplasia-specific mutations in MELK, PDCD1LG2, TLN1, and PAX5 at 9p in different neoplasias.
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Genes Chromosomes Cancer. 2014 Mar 24. [Epub ahead of print]
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.
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Am J Med Genet A. 2014 Mar 24. [Epub ahead of print]
Profiling Cancer Gene Mutations in Clinical Formalin-Fixed, Paraffin-Embedded Colorectal Tumor Specimens Using Targeted Next-Generation Sequencing.
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Oncologist. 2014 Mar 24. [Epub ahead of print]
NOTCH1 Mutations Occur Early During Cutaneous Squamous Cell Carcinogenesis.
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J Invest Dermatol. 2014 Mar 24. [Epub ahead of print]
Effective Variant Detection by Targeted Deep Sequencing of DNA Pools: An Example from Parkinson's Disease.
Pihlstrøm L, Rengmark A, Bjørnarå KA, Toft M.
Ann Hum Genet. 2014 Mar 24. [Epub ahead of print]