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Last Week's Clinical Sequencing Papers of Note: May 7, 2014


Deciphering the molecular profile of plaques, memory decline and neuron loss in two mouse models for Alzheimer's disease by deep sequencing.
Bouter Y, Kacprowski T, Weissmann R, Dietrich K, et al.
Front Aging Neurosci. 2014 Apr 16;6:75.

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.
Bureau A, Parker MM, Ruczinski I, Taub MA, et al.
Genetics. 2014 May 2. [Epub ahead of print]

A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.
Kohsaka S, Shukla N, Ameur N, Ito T, et al.
Nat Genet. 2014 May 4. [Epub ahead of print]

Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
Okou DT, Mondal K, Faubion WA, Kobrynski LJ, et al.
J Pediatr Gastroenterol Nutr. 2014 May;58(5):561-8.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia F1, Bainbridge MN2, Tan TY3, Wangler MF4, et al.
Am J Hum Genet. 2014 May 1;94(5):784-9.

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.
Jin X1, Qu LH2, Meng XH2, Xu HW2, Yin ZQ1.
Mol Vis. 2014 Apr 26;20:553-560.

Next generation sequencing for typing and detection of resistance genes: performance of a new commercial method during an outbreak of ESBL-producing Escherichia coli.
Veenemans J, Overdevest IT, Snelders E, Willemsen I, et al.
J Clin Microbiol. 2014 Apr 30. [Epub ahead of print]

Whole genome based Mycobacterium tuberculosis surveillance: A standardized, portable and expandable approach.
Kohl TA, Diel R, Harmsen D, Rothgänger J, et al.
J Clin Microbiol. 2014 Apr 30. [Epub ahead of print]

Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.
Liu Q, Huang Y, Zhang M, Wang LQ, et al.
J Child Neurol. 2014 Apr 30. [Epub ahead of print]

Zero tolerance for healthcare-associated MRSA bacteraemia: is it realistic?
Török ME, Harris SR, Cartwright EJ, Raven KE, et al.
J Antimicrob Chemother. 2014 Apr 30. [Epub ahead of print]

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.
Wain LV, Sayers I, Soler Artigas M, Portelli MA, et al.
PLOS Genet. 2014 May 1;10(5):e1004314.

Key tumor suppressor genes inactivated by "greater promoter" methylation and somatic mutations in head and neck cancer.
Guerrero-Preston R, Michailidi C, Marchionni L, Pickering C, et al.
Epigenetics. 2014 May 1;9(7).

Genome-wide profiling of the cardiac transcriptome after myocardial infarction identifies novel heart-specific long non-coding RNAs.
Ounzain S, Micheletti R, Beckmann T, Schroen B, et al.
Eur Heart J. 2014 Apr 30. [Epub ahead of print]

Characterization of microRNA transcriptome in lung cancer by next-generation deep sequencing.
Ma J, Mannoor K, Gao L, Tan A, et al.
Mol Oncol. 2014 Apr 15. pii: S1574-7891(14)00067-2.

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
Maglio C, Mancina RM, Motta BM, Stef M, et al.
J Intern Med. 2014 May 1. [Epub ahead of print]

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lawrence L, Sincan M, Markello T, Adams DR, et al.
Genet Med. 2014 May 1. [Epub ahead of print]

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y, Tawamie H, Maeda Y, Büttner C, et al.
PLOS Genet. 2014 May 1;10(5):e1004320.

RNA sequencing reveals upregulation of RUNX1-RUNX1T1 gene signatures in clear cell renal cell carcinoma.
Xiong Z, Yu H, Ding Y, Feng C, et al.
Biomed Res Int. 2014;2014:450621.

Mutations in the Toll-like receptor/MYD88 pathway in chronic lymphocytic leukemia identify a subset of young patients with favorable outcome.
Martínez-Trillos A, Pinyol M, Navarro A, Aymerich M, et al.
Blood. 2014 Apr 29. [Epub ahead of print]

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.
Sana ME, Spitaleri A, Spiliotopoulos D, Pezzoli L, et al.
Am J Med Genet A. 2014 Apr 29. [Epub ahead of print]

Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia.
Fujiwara T, Fukuhara N, Funayama R, Nariai N, et al.
Ann Hematol. 2014 Apr 30. [Epub ahead of print]

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Abdollahpour H, Alawi M, Kortüm F, Beckstette M, et al.
Eur J Hum Genet. 2014 Apr 30. [Epub ahead of print]

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Gulhan Ercan-Sencicek A, Jambi S, Franjic D, Nishimura S, et al.
Eur J Hum Genet. 2014 Apr 30. [Epub ahead of print]

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.
Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA.
Eur J Hum Genet. 2014 Apr 30. [Epub ahead of print]

Collaboration of Colorado cancer genetic counselors to integrate next generation sequencing panels into clinical practice.
Wolfe Schneider K, Anguiano A, Axell L, Barth C, et al.
J Genet Couns. 2014 May 1. [Epub ahead of print]

The genetic landscape of infantile spasms.
Michaud JL, Lachance M, Hamdan FF, Carmant L, et al.
Hum Mol Genet. 2014 Apr 29. [Epub ahead of print]

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, et al.
J Med Genet. 2014 Apr 29. [Epub ahead of print]

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Raphael AR, Couthouis J, Sakamuri S, Siskind C, et al.
Brain Res. 2014 Apr 25. pii: S0006-8993(14)00576-9.