Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools

FDSTools: A software package for analysis of massively parallel sequencing data with the ability to recognise and correct STR stutter and other PCR or sequencing noise

(2017) Jerry Hoogenboom et al.   Forensic Science International-Genetics

Massively parallel sequencing of short tandem repeats—Population data and mixture analysis results for the PowerSeq™ system

(2016) Kristiaan J. van der Gaag et al.   Forensic Science International-Genetics

Characterization ofPABPN1expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD)

(2016) Marisa Cruz-Aguilar et al.   JOURNAL OF INVESTIGATIVE MEDICINE

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions

(2016) Elaine M. Cleary et al.   MOLECULAR AND CELLULAR PROBES

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

(2016) Pascale Richard et al.   NEUROLOGY

A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging

(2016) Seyed Yahya Anvar et al.   Aging-US

Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics

(2015) Jonatan Blais et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Dropped-head in recessive oculopharyngeal muscular dystrophy

(2015) Matteo Garibaldi et al.   NEUROMUSCULAR DISORDERS

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

(2014) L. Jouan et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Comparing six commercial autosomal STR kits in a large Dutch population sample

(2014) Antoinette A. Westen et al.   Forensic Science International-Genetics

Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population

(2014) Jingli Shan et al.   NEUROMOLECULAR MEDICINE

PABPN1: molecular function and muscle disease

(2013) Ayan Banerjee et al.   FEBS Journal

191st ENMC International Workshop: Recent advances in oculopharyngeal muscular dystrophy research: From bench to bedside 8-10 June 2012, Naarden, The Netherlands

(2013) Vered Raz et al.   NEUROMUSCULAR DISORDERS

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy

(2012) Mireia Tondo et al.   JOURNAL OF NEUROLOGY

Oculopharyngeal muscular dystrophy – An under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature

(2012) Yu-Yi Chien   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland: Figure 1

(2011) Pankaj Kumar Agarwal et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients

(2011) T. Pulkes et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Low template STR typing: Effect of replicate number and consensus method on genotyping reliability and DNA database search results

(2010) Corina C.G. Benschop et al.   Forensic Science International-Genetics

Late-onset Huntington disease with intermediate CAG repeats: true or false?

(2010) J. L Groen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

(2009) S. C. Blumen et al.   NEUROLOGY