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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]

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.