Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
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Brain. 2013 Mar 29. [Epub ahead of print]
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Nat Genet. 2013 Mar 31. [Epub ahead of print]
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
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Nat Genet. 2013 Mar 31. [Epub ahead of print]
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
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Nat Genet. 2013 Mar 31. [Epub ahead of print]
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
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Nat Genet. 2013 Mar 31. [Epub ahead of print]
Whole-genome sequencing to identify transmission of Mycobacterium abscessus between patients with cystic fibrosis: a retrospective cohort study.
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Lancet. 2013 Mar 28. [Epub ahead of print]
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
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Am J Hum Genet. 2013 Mar 26. [Epub ahead of print]
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
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Am J Hum Genet. 2013 Mar 26. [Epub ahead of print]
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
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Am J Hum Genet. 2013 Mar 26. [Epub ahead of print]
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PLoS One. 2013;8(3):e60525.
Transcriptome sequencing of gene expression in the brain of the HIV-1 transgenic rat.
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PLoS One. 2013;8(3):e59582.
Deep sequencing reveals mutagenic effects of ribavirin during monotherapy of HCV genotype 1-infected patients.
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J Virol. 2013 Mar 27. [Epub ahead of print]
Mining the antibodyome for HIV-1-neutralizing antibodies with next-generation sequencing and phylogenetic pairing of heavy/light chains.
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Proc Natl Acad Sci U S A. 2013 Mar 27. [Epub ahead of print]
Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.
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J Hum Genet. 2013 Mar 28. [Epub ahead of print]
Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
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Clin Genet. 2013 Mar 27. [Epub ahead of print]
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
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Pediatr Dermatol. 2013 Mar 28. [Epub ahead of print]
Global H3K4me3 genome mapping reveals alterations of innate immunity signaling and overexpression of JMJD3 in human myelodysplastic syndrome CD34+ cells.
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Leukemia. 2013 Mar 29. [Epub ahead of print]
Characterization of oral bacterial diversity of irradiated patients by high-throughput sequencing.
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Int J Oral Sci. 2013 Mar 29;5:0. [Epub ahead of print]
Investigation of radiation-induced transcriptome profile of radioresistant non-small cell lung cancer A549 cells using RNA-seq.
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PLoS One. 2013;8(3):e59319.
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.
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Endocr Relat Cancer. 2013 Mar 26. [Epub ahead of print]
Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.
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Prenat Diagn. 2013 Mar 27:1-4.
KRAS, BRAF, and TP53 deep-sequencing for colorectal carcinoma patient diagnostics.
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J Mol Diagn. 2013 Mar 23. [Epub ahead of print]
MutComFocal: an integrative approach to identifying recurrent and focal genomic alterations in tumor samples.
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BMC Syst Biol. 2013 Mar 25;7(1):25.
High-purity prostate circulating tumor cell isolation by a polymer nanofiber-embedded microchip for whole exome sequencing.
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Adv Mater. 2013 Mar 26. [Epub ahead of print]
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J Neurogenet. 2013 Mar 25. [Epub ahead of print]