Skip to main content
Premium Trial:

Request an Annual Quote

In Print: Last Week's Clinical Sequencing Papers of Note: Sep 25, 2013


Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
Nota B, Hamilton EM, Sie D, Ozturk S, et al.
J Med Genet. 2013 Sep 18. [Epub ahead of print]

Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability.
Blumkin L, Leshinsky-Silver E, Zerem A, Yosovich K, et al.
JIMD Rep. 2013 Sep 19. [Epub ahead of print]

Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis.
Barua M, Shieh E, Schlondorff J, Genovese G, et al.
Kidney Int. 2013 Sep 18. [Epub ahead of print]

BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
Damm F, Chesnais V, Nagata Y, Yoshida K, et al.
Blood. 2013 Sep 18. [Epub ahead of print]

Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X.
Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW.
Clin Chem. 2013 Sep 17. [Epub ahead of print]

A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice.
Akiyama K, Noguchi J, Hirose M, Kajita S, et al.
J Biol Chem. 2013 Sep 17. [Epub ahead of print]

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, et al.
Eur J Hum Genet. 2013 Sep 18. [Epub ahead of print]

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
Perez Y, Gradstein L, Flusser H, Markus B, et al.
Eur J Hum Genet. 2013 Sep 18. [Epub ahead of print]

The role of INNO-LiPA HBV DR and ultra-deep pyrosequencing in detecting the resistance mutations to nucleoside/nucleotide analogues in viral samples isolated from chronic hepatitis B patients.
Mese S, Arikan M, Cakiris A, Abaci N, et al.
J Gen Virol. 2013 Sep 17. [Epub ahead of print]

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
Dinwiddie DL, Soden SE, Saunders CJ, Miller NA, et al.
BMC Med Genomics. 2013 Sep 17;6(1):32.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, et al.
Proc Natl Acad Sci U S A. 2013 Sep 16. [Epub ahead of print]

A new RNA-seq method to detect the transcription and non-coding RNA in prostate cancer.
Zhang XM, Ma ZW, Wang Q, Wang JN, et al.
Pathol Oncol Res. 2013 Sep 17. [Epub ahead of print]

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, et al.
JAMA Neurol. 2013 Sep 16. [Epub ahead of print]

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.
Fratta P, Collins T, Pemble S, Nethisinghe S, et al.
Neurobiol Aging. 2013 Sep 13. [Epub ahead of print]

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity, through one step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A, Philippe J, Durand E, Muller J, et al.
Diabetes Care. 2013 Sep 16. [Epub ahead of print]