ADAR1 promotes malignant progenitor reprogramming in chronic myeloid leukemia.
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Proc Natl Acad Sci U S A. 2012 Dec 28. [Epub ahead of print]
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
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J Am Soc Nephrol. 2012 Dec 28. [Epub ahead of print]
Combining highly multiplexed PCR with semiconductor-based sequencing for rapid cancer genotyping.
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J Mol Diagn. 2012 Dec 27. [Epub ahead of print]
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
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Am J Hum Genet. 2012 Dec 22. [Epub ahead of print]
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Am J Hum Genet. 2012 Dec 22. [Epub ahead of print]
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Am J Hum Genet. 2012 Dec 22. [Epub ahead of print]
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
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Discov Med. 2012 Dec;14(79):389-99.
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Gene. 2012 Dec 20. [Epub ahead of print]
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Next-generation sequencing identified new oncogenes and tumor suppressor genes in human hepatic tumors.
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Oncoimmunology. 2012 Dec 1;1(9):1612-1613.
Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS.
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J Clin Endocrinol Metab. 2012 Dec 21. [Epub ahead of print]
Newborn screening for SCID identifies patients with Ataxia telangiectasia.
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J Clin Immunol. 2012 Dec 20. [Epub ahead of print]
Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.
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Nat Genet. 2012 Dec 23. [Epub ahead of print]
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
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Nat Genet. 2012 Dec 23. [Epub ahead of print]
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Virchows Arch. 2012 Dec 22. [Epub ahead of print]
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
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Am J Hum Genet. 2012 Dec 19. [Epub ahead of print]
Mutations in ECEL1 cause distal arthrogryposis type 5D.
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Am J Hum Genet. 2012 Dec 19. [Epub ahead of print]
Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.
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Am J Hum Genet. 2012 Dec 19. [Epub ahead of print]
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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Cell. 2012 Dec 21;151(7):1431-42.
RNA-seq analysis of synovial fibroblasts brings new insights into rheumatoid arthritis.
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Cell Biosci. 2012 Dec 21;2(1):43.
Use of next generation sequencing technologies in research and beyond: are participants with mental health disorders fully protected?
Jaitovich Groisman I, Mathieu G, Godard B.
BMC Med Ethics. 2012 Dec 20;13(1):36.
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
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Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.
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Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.
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Detection of BCR-ABL1 mutations in chronic myeloid leukaemia by massive parallel sequencing.
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Br J Haematol. 2012 Dec 17. [Epub ahead of print]
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Epilepsia. 2012 Dec 17. [Epub ahead of print]
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
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PLoS One. 2012;7(12):e51566.
The ChIP-seq-defined networks of Bcl-3 gene binding support its required role in skeletal muscle atrophy.
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PLoS One. 2012;7(12):e51478.
Characterization and validation of insertions and deletions in 173 patient exomes.
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Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
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Eur J Hum Genet. 2012 Dec 19. [Epub ahead of print]
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
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Eur J Hum Genet. 2012 Dec 19. [Epub ahead of print]
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.
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Clin Chim Acta. 2012 Dec 13. [Epub ahead of print]
Filling the gaps — the generation of full genomic sequences for 15 common and well-documented HLA class I alleles using next-generation sequencing technology.
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Hum Immunol. 2012 Dec 12. [Epub ahead of print]
Integrating GWAS and expression data for functional characterization of disease-associated SNPs: an application to follicular lymphoma.
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Am J Hum Genet. 2012 Dec 11. [Epub ahead of print]
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
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Am J Hum Genet. 2012 Dec 11. [Epub ahead of print]
Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis.
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J Allergy Clin Immunol. 2012 Dec 13. [Epub ahead of print]