De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions

(2017) Jovan Pešović et al.   NEUROGENETICS

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

(2017) Mário Gomes-Pereira et al.   Frontiers in Cellular Neuroscience

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

(2017) Ivette Landrian et al.   PLoS One

Je, a versatile suite to handle multiplexed NGS libraries with unique molecular identifiers

(2016) Charles Girardot et al.   BMC BIOINFORMATICS

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

(2016) Fernando Morales et al.   DNA REPAIR

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

(2016) Annalisa Botta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update

(2016) Enis Afgan et al.   NUCLEIC ACIDS RESEARCH

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

(2015) Massimo Santoro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Repeat Expansion Diseases: The dark side of DNA repair

(2015) Xiao-Nan Zhao et al.   DNA REPAIR

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Molecular mechanisms in DM1 — a focus on foci

(2015) Olof Joakim Pettersson et al.   NUCLEIC ACIDS RESEARCH

Myotonic dystrophy

(2014) Chris Turner et al.   CURRENT OPINION IN NEUROLOGY

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

(2013) Koichiro Doi et al.   BIOINFORMATICS

Using Tablet for visual exploration of second-generation sequencing data

(2012) I. Milne et al.   BRIEFINGS IN BIOINFORMATICS

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

(2012) Erik-Jan Kamsteeg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

(2012) E. W. Loomis et al.   GENOME RESEARCH

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations

(2012) Catherine F. Higham et al.   HUMAN MOLECULAR GENETICS

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

(2012) Fernando Morales et al.   HUMAN MOLECULAR GENETICS

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions

(2012) Massimo Santoro et al.   JOURNAL OF NEUROLOGY

Somatic instability of CTG repeats in the cerebellum of myotonic dystrophy type 1

(2012) Kenji Jinnai et al.   MUSCLE & NERVE

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

A flexible and efficient template format for circular consensus sequencing and SNP detection

(2010) K. J. Travers et al.   NUCLEIC ACIDS RESEARCH

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

(2009) Zuzana Musova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE