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Clinical Sequencing Papers of Note: May 4, 2011

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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, et al.
PLoS Genet. 2011 Apr;7(4):e1002050. Epub 2011 Apr 14.


Massive-scale RNA-seq analysis of non ribosomal transcriptome in human trisomy 21.
Costa V, Angelini C, D'Apice L, et al.
PLoS One. 2011 Apr 20;6(4):e18493.


Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
Klein CJ, Botuyan MV, Wu Y, et al.
Nat Genet. 2011 May 1. [Epub ahead of print]


Cross-validation study for epidermal growth factor receptor and KRAS mutation detection in 74 blinded non-small cell lung carcinoma samples: a total of 5550 exons sequenced by 15 molecular French laboratories (Evaluation of the EGFR Mutation Status for the Administration of EGFR-TKIs in Non-Small Lung Carcinoma [ERMETIC] project — part 1) .
Beau-Faller M, Degeorges A, Rolland E, et al.
J Thorac Oncol. 2011 Apr 28. [Epub ahead of print]


Comprehensive analysis of epidermal growth factor receptor gene status in lung adenocarcinoma.
Li C, Sun Y, Fang Z, et al.
J Thorac Oncol. 2011 Apr 28. [Epub ahead of print]


Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB.
J Bone Joint Surg Am. 2011 Apr 29. [Epub ahead of print]


IRF8 mutations and human dendritic-cell immunodeficiency.
Hambleton S, Salem S, Bustamante J, et al.
N Engl J Med. 2011 Apr 27. [Epub ahead of print]


Lex-svm: exploring the potential of exon expression profiling for disease classification.
Yuan X, Zhao Y, Liu C, Bu D.
J Bioinform Comput Biol. 2011 Apr;9(2):299-316.


Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
Capanu M, Concannon P, Haile RW, et al.
Genet Epidemiol. 2011 Apr 25. doi: 10.1002/gepi.20587. [Epub ahead of print]


Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.
Sundaram SK, Huq AM, Sun Z, et al.
Ann Neurol. 2011 May;69(5):901-4. doi: 10.1002/ana.22398.


Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.
Wang J, Lu Y, Chen H, Yin M, Yu T, Fu Q.
Pathology. 2011 Apr 22. [Epub ahead of print]


Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.
Sehnert AJ, Rhees B, Comstock D, et al.
Clin Chem. 2011 Apr 25. [Epub ahead of print]


Fanconi' s anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing.
Tan IB, Cutcutache I, Zang ZJ, et al.
J Clin Oncol. 2011 Apr 25. [Epub ahead of print]


TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression.
Jädersten M, Saft L, Smith A, et al.
J Clin Oncol. 2011 Apr 25. [Epub ahead of print]

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