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Recent Clinical Sequencing Papers of Note: Jul 30, 2014


Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
Vries LD, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L.
J Clin Endocrinol Metab. 2014 Jul 25 [Epub ahead of print]

Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss.
Bademci G, Diaz-Horta O, Guo S, Duman D, Van Booven D, et al.
Genet Test Mol Biomarkers. 2014 Jul 25. [Epub ahead of print]

Identification of Novel GRM1 Mutations and Single Nucleotide Polymorphisms in Prostate Cancer Cell Lines and Tissues.
Ali S, Shourideh M, Koochekpour S.
PLoS One. 2014 Jul 25;9(7):e103204.

A new form of macrothrombocytopenia induced by a germline mutation in PRKACG gene.
Manchev VT, Hilpert M, Berrou E, Elaib Z, Aouba A, Boukour S, et al.
Blood. 2014 Jul 24. [Epub ahead of print]

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, et al.
Epilepsia. 2014 Jul 24. [Epub ahead of print]

Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and Alopecia.
Papadopoulou A, Bountouvi E, Gole E, Doulgeraki A, Tournis S, et al.
Horm Res Paediatr. 2014 Jul 23. [Epub ahead of print]

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.
Yuan L, Wu S, Xu H, Xiao J, Yang Z, Xia H, Liu A, et al.
Biol Chem. 2014 Jul 23. [Epub ahead of print]

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, et al.
Clin Experiment Ophthalmol. 2014 Jul 24. [Epub ahead of print]

Identifying genes responsible for intellectual disability in consanguineous families.
Iqbal Z, van Bokhoven H.
Hum Hered. 2014;77(1-4):150-60.

The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Gillespie RL, Lloyd IC, Black GC.
Hum Hered. 2014;77(1-4):118-37.

Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression.
Giglio S, Provenzano A, Mazzinghi B, Becherucci F, et al.
J Am Soc Nephrol. 2014 Jul 24. [Epub ahead of print]

Rapid detection of trichodysplasia spinulosa-associated polyomavirus in skin biopsy specimen.
Urbano PR, Pannuti CS, Pierrotti LC, David-Neto E, Romano CM.
Genome Announc. 2014 Jul 24;2(4).

Personalized Medicine and Human Genetic Diversity.
Lu YF, Goldstein DB, Angrist M, Cavalleri G.
Cold Spring Harb Perspect Med. 2014 Jul 24. [Epub ahead of print]

A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.
Zanetti A, Tomanin R, Rampazzo A, Rigon C, Gasparotto N, et al.
JIMD Rep. 2014 Jul 25. [Epub ahead of print]

The Semen Microbiome and Its Relationship with Local Immunology and Viral Load in HIV Infection.
Liu CM, Osborne BJ, Hungate BA, Shahabi K, Huibner S, et al.
PLoS Pathog. 2014 Jul 24;10(7):e1004262.

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, et al.
Genet Med. 2014 Jul 24. [Epub ahead of print]

Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma.
Finalet Ferreiro J, Rouhigharabaei L, Urbankova H, et al.
PLoS One. 2014 Jul 24;9(7):e102977.

The Intestinal Microbiota, Microbial Translocation and Systemic Inflammation in Chronic HIV Infection.
Dinh DM, Volpe GE, Duffalo C, Bhalchandra S, Tai AK, Kane AV, et al.
J Infect Dis. 2014 Jul 23. [Epub ahead of print]

Integrative and comparative genomic analysis of HPV-positive and HPV-negative head and neck squamous cell carcinomas.
Seiwert TY, Zuo Z, Keck MK, Khattri A, Pedamallu CS, Stricker TP, et al.
Clin Cancer Res. 2014 Jul 23. [Epub ahead of print]

Genome sequencing of Mycobacterium abscessus isolates from patients in the United States and comparisons to globally diverse clinical strains.
Davidson RM, Hasan N, Reynolds PR, Totten S, Garcia B, Levin A, et al.
J Clin Microbiol. 2014 Jul 23. [Epub ahead of print]

Deep sequencing extends the diversity of human papillomaviruses in human skin.
Bzhalava D, Mühr LS, Lagheden C, Ekström J, Forslund O, Dillner J, Hultin E.
Sci Rep. 2014 Jul 24;4:5807.

Next Generation Sequencing and the Future of Genetic Diagnosis.
Lohmann K, Klein C.
Neurotherapeutics. 2014 Jul 23. [Epub ahead of print]

Short Communication: HIV-1 Gag Genetic Variation in a Single Acutely Infected Participant Defined by High-Resolution Deep Sequencing.
Al-Mawsawi LQ, Wu NC, De La Cruz J, Shi VC, Wu TT, Daar ES, et al.
AIDS Res Hum Retroviruses. 2014 Jul 23. [Epub ahead of print]