High-throughput sequencing of microRNAs in peripheral blood mononuclear cells: identification of potential weight loss biomarkers.
Milagro FI, Miranda J, Portillo MP, Fernandez-Quintela A, et al.
PLoS One. 2013;8(1):e54319.
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, et al.
Hum Mol Genet. 2013 Jan 17. [Epub ahead of print]
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Twigg SR, Babbs C, van den Elzen ME, Goriely A, et al.
Hum Mol Genet. 2013 Jan 17. [Epub ahead of print]
Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
Abuzenadah AM, Zaher GF, Dallol A, Damanhouri GA, et al.
J Thromb Thrombolysis. 2013 Jan 20. [Epub ahead of print]
The genomic landscape of hypodiploid acute lymphoblastic leukemia.
Holmfeldt L, Wei L, Diaz-Flores E, Walsh M, et al.
Nat Genet. 2013 Jan 20. [Epub ahead of print]
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.
Brastianos PK, Horowitz PM, Santagata S, Jones RT, et al.
Nat Genet. 2013 Jan 20. [Epub ahead of print]
The genetic landscape of high-risk neuroblastoma.
Pugh TJ, Morozova O, Attiyeh EF, Asgharzadeh S, et al.
Nat Genet. 2013 Jan 20. [Epub ahead of print]
Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.
Devers PL, Cronister A, Ormond KE, Facio F, et al.
J Genet Couns. 2013 Jan 22. [Epub ahead of print]
High-throughput sequencing of the paired human immunoglobulin heavy and light chain repertoire.
Dekosky BJ, Ippolito GC, Deschner RP, Lavinder JJ, et al.
Nat Biotechnol. 2013 Jan 20. [Epub ahead of print]
High-throughput DNA sequence analysis reveals stable engraftment of gut microbiota following transplantation of previously frozen fecal bacteria.
Hamilton MJ, Weingarden AR, Unno T, Khoruts A, Sadowsky MJ.
Gut Microbes. 2013 Jan 18;4(2).
Targeted resequencing of 9p in acute lymphoblastic leukemia yields concordant results with array CGH and reveals novel genomic alterations.
Sarhadi VK, Lahti L, Scheinin I, Tyybäkinoja A, et al.
Genomics. 2013 Jan 15. [Epub ahead of print]
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, et al.
Am J Hum Genet. 2013 Jan 15. [Epub ahead of print]
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Martin E, Schüle R, Smets K, Rastetter A, et al.
Am J Hum Genet. 2013 Jan 15. [Epub ahead of print]
Meconium microbiota types dominated by lactic acid or enteric bacteria are differentially associated with maternal eczema and respiratory problems in infants.
Gosalbes MJ, Llop S, Vallès Y, Moya A, et al.
Clin Exp Allergy. 2013 Feb;43(2):198-211.
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
Rehder CW, David KL, Hirsch B, Toriello HV, et al.
Genet Med. 2013 Jan 17. [Epub ahead of print]
Predictive modeling using a somatic mutational profile in ovarian high grade serous carcinoma.
Sohn I, Sung CO.
PLoS One. 2013;8(1):e54089.
Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
Lee S, Paik SH, Kim HJ, Ryu HH, et al.
PLoS One. 2013;8(1):e53613.
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
Valencia CA, Ankala A, Rhodenizer D, Bhide S, et al.
PLoS One. 2013;8(1):e53083.
Nucleosome mapping across the CFTR locus identifies novel regulatory factors.
Yigit E, Bischof JM, Zhang Z, Ott CJ, et al.
Nucleic Acids Res. 2013 Jan 15. [Epub ahead of print]
CRAVAT: Cancer-Related Analysis of VAriants Toolkit.
Douville C, Carter H, Kim R, Niknafs N, et al.
Bioinformatics. 2013 Jan 16. [Epub ahead of print]
Exome sequencing reveals FAM20c mutations associated with FGF23-related hypophosphatemia, dental anomalies and ectopic calcification.
Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, et al.
J Bone Miner Res. 2013 Jan 16. [Epub ahead of print]
Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase 3 study of metastatic colorectal cancer.
Peeters M, Oliner K, Parker A, Siena S, et al.
Clin Cancer Res. 2013 Jan 16. [Epub ahead of print]
FKBP5 genetic variation: association with selective serotonin reuptake inhibitor treatment outcomes in major depressive disorder.
Ellsworth KA, Moon I, Eckloff BW, Fridley BL, et al.
Pharmacogenet Genomics. 2013 Jan 15. [Epub ahead of print]
Microbial composition of human appendices from patients following appendectomy.
Guinane CM, Tadrous A, Fouhy F, Ryan CA, et al.
MBio. 2013 Jan 15;4(1).
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.
Ayuso C, Millán JM, Mancheño M, Dal-Ré R.
Eur J Hum Genet. 2013 Jan 16. [Epub ahead of print]
Targeted, high-depth, next-generation sequencing of cancer genes in formalin-fixed, paraffin-embedded and fine-needle aspiration tumor specimens.
Hadd AG, Houghton J, Choudhary A, Sah S, et al.
J Mol Diagn. 2013 Jan 12. [Epub ahead of print]
A second report of TMCO1 defect syndrome in a patient diagnosed with whole-exome sequencing: expanding phenotypic spectrum.
Caglayan AO, Per H, Akgumus G, Gumus H, et al.
Clin Genet. 2013 Jan 16. [Epub ahead of print]
B cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta.
Salzer E, Santos-Valente E, Klaver S, Ban SA, et al.
Blood. 2013 Jan 14. [Epub ahead of print]
Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.
Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, et al.
Pediatrics. 2013 Jan 14. [Epub ahead of print]
Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer.
Heitzer E, Auer M, Hoffmann EM, Pichler M, et al.
Int J Cancer. 2013 Jan 15. [Epub ahead of print]
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, et al.
JAMA Neurol. 2013 Jan 1;70(1):78-84.
Next-generation sequencing of endoscopic biopsies identifies ARID1A as a tumor-suppressor gene in Barrett's esophagus.
Streppel MM, Lata S, Delabastide M, Montgomery EA, et al.
Oncogene. 2013 Jan 14. [Epub ahead of print]
Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
Alfawaz S, Fong F, Plagnol V, Wong FS, et al.
Arch Oral Biol. 2013 Jan 11. [Epub ahead of print]