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Clinical Sequencing Papers of Note: May 10, 2011


Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A, Tyynismaa H, Euro L, et al.
Am J Hum Genet. 2011 May 4. [Epub ahead of print]

Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
O'Sullivan J, Bitu CC, Daly SB, et al.
Am J Hum Genet. 2011 May 4. [Epub ahead of print]

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Schraders M, Haas SA, Weegerink NJ, et al.
Am J Hum Genet. 2011 May 4. [Epub ahead of print]

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Puente XS, Quesada V, Osorio FG, et al.
Am J Hum Genet. 2011 May 4. [Epub ahead of print]

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner AK, Gandia M, Frommolt P, et al.
Am J Hum Genet. 2011 May 4. [Epub ahead of print]

HIV-1 nucleotide mixture detection in the vircoTYPE HIV-1 genotyping assay: A comparison between Sanger sequencing and 454 pyrosequencing.
De Wolf H, Van Marck H, Mostmans W, et al.
J Virol Methods. 2011 Apr 27. [Epub ahead of print]

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K, Hanks S, Ruark E, et al.
Nat Genet. 2011 May 8. [Epub ahead of print]

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, et al.
Nat Genet. 2011 May 8. [Epub ahead of print]

Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Russo L, Iafusco D, Brescianini S, et al.
Diabetologia. 2011 Mar 10. [Epub ahead of print]

Differences in average age of onset, locus heterogeneity, and penetrance between familial pulmonary arterial hypertension and familial interstitial pneumonia can predict the success of linkage and whole exome sequencing in discovering disease-causing alleles.
Phillips JA 3rd, Cogan JD, Austin ED, et al.
Proc Am Thorac Soc. 2011 May;8(2):205-6.

Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy.
Bredenoord AL, Onland-Moret NC, Van Delden JJ.
Hum Mutat. 2011 Apr 28. doi: 10.1002/humu.21518. [Epub ahead of print]

Integrated genetic and genomic approach in the Singapore translational and clinical research in psychosis study: an overview.
Sim K, Lee J, Subramaniam M, Liu JJ, Keefe R, Zhang XD, Lee TS, Chong SA.
Early Interv Psychiatry. 2011 May;5(2):91-9. doi: 10.1111/j.1751-7893.2011.00272.x.

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M, Van Laer L, De Leeneer K, et al.
Hum Mutat. 2011 May 3. doi: 10.1002/humu.21525. [Epub ahead of print]

The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.