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J Genet Couns. 2014 Mar 23. [Epub ahead of print]
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
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Nat Genet. 2014 Mar 23. [Epub ahead of print]
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Am J Obstet Gynecol. 2014 Mar 19. [Epub ahead of print]
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Am J Hum Genet. 2014 Mar 18. [Epub ahead of print]
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Genet Med. 2014 Mar 20. [Epub ahead of print]
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Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.
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PLOS Genet. 2014 Mar 20;10(3):e1004237.
Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.
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Cancer Cell. 2014 Mar 17;25(3):393-405.
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.
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BMC Med Genet. 2014 Mar 20;15(1):35.
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J Clin Microbiol. 2014 Mar 19. [Epub ahead of print]
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Biol Reprod. 2014 Mar 19. [Epub ahead of print]
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
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Am J Med Genet A. 2014 Mar 19. [Epub ahead of print]
Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity.
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NTRK1 fusion in glioblastoma multiforme.
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PLOS One. 2014 Mar 19;9(3):e91940.
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Neurology. 2014 Mar 19. [Epub ahead of print]
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The global landscape of intron retentions in lung adenocarcinoma.
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BMC Med Genomics. 2014 Mar 20;7(1):15.
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
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Trials. 2014 Mar 20;15(1):85.
Sources of individual variability: miRNAs that predispose to neuropathic pain identified using genome-wide sequencing.
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Mol Pain. 2014 Mar 19;10(1):22.
Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.
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Clin Genet. 2014 Mar 18. [Epub ahead of print]
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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
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PLOS One. 2014 Mar 17;9(3):e91598.
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
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Clin Genet. 2014 Jan 26. [Epub ahead of print]
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Clin Genet. 2014 Feb 7. [Epub ahead of print]
Integrated next generation sequencing and Avatar mouse models for personalized cancer treatment.
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Clin Cancer Res. 2014 Mar 14. [Epub ahead of print]
Discovery of somatic mutations in the progression of chronic myeloid leukemia by whole-exome sequencing.
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Genet Mol Res. 2014 Feb 19;13(1):945-53.
Whole-genome sequencing of an aggressive BRAF wild-type papillary thyroid cancer identified EML4-ALK translocation as a therapeutic target.
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PyClone: statistical inference of clonal population structure in cancer.
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Nat Methods. 2014 Mar 16. [Epub ahead of print]
Genome-wide transcriptional sequencing identifies novel mutations in metabolic genes in human hepatocellular carcinoma.
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Cancer Genomics Proteomics. 2014 Jan-Feb;11(1):1-12.
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
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Nat Genet. 2014 Mar 16. [Epub ahead of print]
Translocations at 8q24 juxtapose MYC with genes that harbor superenhancers resulting in overexpression and poor prognosis in myeloma patients.
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Blood Cancer J. 2014 Mar 14;4:e191.
Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.
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PLOS One. 2014 Mar 14;9(3):e91962.
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.
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Deep sequencing reveals myeloma cells in peripheral blood in majority of multiple myeloma patients.
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Clin Lymphoma Myeloma Leuk. 2014 Apr;14(2):131-139.e1.
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Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines.
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BMC Genomics. 2014 Mar 14;15(1):198.
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
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Clin Genet. 2014 Mar 14. [Epub ahead of print]