A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen… - Human …, 2013 - Wiley Online Library
The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …
the genetic diagnosis and research of rare diseases that involve a large number of genes …
Genetics of Parkinson's disease
Less than a quarter century after the discovery of SNCA as the first attributable gene in
Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease …
Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease …
Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics
B Sikkema‐Raddatz, LF Johansson… - Human …, 2013 - Wiley Online Library
Mutation detection through exome sequencing allows simultaneous analysis of all coding
sequences of genes. However, it cannot yet replace S anger sequencing (SS) in diagnostics …
sequences of genes. However, it cannot yet replace S anger sequencing (SS) in diagnostics …
The human gene damage index as a gene-level approach to prioritizing exome variants
The protein-coding exome of a patient with a monogenic disease contains about 20,000
variants, only one or two of which are disease causing. We found that 58% of rare variants in …
variants, only one or two of which are disease causing. We found that 58% of rare variants in …
[HTML][HTML] Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
KLM Coene, LAJ Kluijtmans, E van der Heeft… - Journal of inherited …, 2018 - Springer
The implementation of whole-exome sequencing in clinical diagnostics has generated a
need for functional evaluation of genetic variants. In the field of inborn errors of metabolism …
need for functional evaluation of genetic variants. In the field of inborn errors of metabolism …
[HTML][HTML] Whole exome sequencing of suspected mitochondrial patients in clinical practice
Mitochondrial disorders are characterized by a broad clinical spectrum. Identical clinical
signs and symptoms can be caused by mutations in different mitochondrial or nuclear …
signs and symptoms can be caused by mutations in different mitochondrial or nuclear …
Genomic medicine: a decade of successes, challenges, and opportunities
JJ McCarthy, HL McLeod, GS Ginsburg - Science translational …, 2013 - science.org
Genomic medicine—an aspirational term 10 years ago—is gaining momentum across the
entire clinical continuum from risk assessment in healthy individuals to genome-guided …
entire clinical continuum from risk assessment in healthy individuals to genome-guided …
Genetics of Parkinson's disease–state of the art, 2013
V Bonifati - Parkinsonism & related disorders, 2014 - Elsevier
In the past 15 years there has been substantial progress in our understanding of the
genetics of Parkinson's disease (PD). Highly-penetrant mutations in different genes (SNCA …
genetics of Parkinson's disease (PD). Highly-penetrant mutations in different genes (SNCA …
Genetics of hearing loss: syndromic
T Koffler, K Ushakov, KB Avraham - Otolaryngologic Clinics of …, 2015 - oto.theclinics.com
Hearing loss (HL) is the most prevalent sensory impairment in both childhood and
adulthood. 1, 2 According to the last update of the World Health Organization (WHO) …
adulthood. 1, 2 According to the last update of the World Health Organization (WHO) …