Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes

DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians

(2023) Jennifer G. Andrews et al.   Journal of Clinical Neuromuscular Disease

Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy

(2022) Megan A. Waldrop et al.   HUMAN MUTATION

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

(2022) Ann‐Kathrin Zaum et al.   Molecular Genetics & Genomic Medicine

A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

(2021) Babi R.R. Nallamilli et al.   HUMAN MUTATION

X-linked Malformation Deafness

(2021) Henrik Smeds et al.   EAR AND HEARING

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

(2021) Kandamurugu Manickam et al.   GENETICS IN MEDICINE

Cytogenetically visible inversions are formed by multiple molecular mechanisms

(2020) Maria Pettersson et al.   HUMAN MUTATION

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

(2014) Rosário Santos et al.   JOURNAL OF HUMAN GENETICS

X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream ofPOU3F4

(2014) Gregory J. Anger et al.   American Journal of Audiology

Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations

(2013) Byung Yoon Choi et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

(2013) Aliya Ishmukhametova et al.   HUMAN MUTATION

Inversion variants in the human genome: role in disease and genome architecture

(2010) Lars Feuk   Genome Medicine