Results 261 to 270 of about 2,747,199 (303)

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre, Thomas Ollivier, Guillaume Baille, Luc Defebvre, Vincent Huin, Eugenie Mutez   +5 more
wiley   +1 more source

PINK1‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation

Movement Disorders, EarlyView.
Reza Maroofian, Ross Leng, Shilpan G. Patel, Hina Ojha, Heba Hosny, Maha Zaki, Miratul M.K. Muqit, Henry Houlden   +7 more
wiley   +1 more source

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Whole Exome Sequencing

Dermatitis®, 2013
Our goal is to highlight annually a methodology of significance to the journal’s domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.
Donald A, Glass, And Anthony A, Nuara
openaire   +4 more sources

Whole exome and whole genome sequencing

Current Opinion in Pediatrics, 2011
The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care.Advances in instrumentation have dramatically reduced the cost of DNA sequencing.
David, Bick, David, Dimmock
openaire   +2 more sources

Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma [PDF]

Cancers, 2021
Background: With minimally effective chemotherapy options, cholangiocarcinoma patients have 5 year survival rate of 10%. Tumor genetic profiling (TGP) can identify mutations susceptible to targeted therapies. We sought to describe the use of TGP and frequency of actionable results in resected cholangiocarcinoma.
Daneng Li, Laleh Melstrom, Vincent Chung   +2 more
exaly   +3 more sources

Whole-exome sequencing

2022
We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
openaire   +1 more source

Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Wayne W, Grody, Barry H, Thompson, Louanne, Hudgins   +2 more
openaire   +2 more sources

Whole-genome and whole-exome sequencing in neurological diseases

Nature Reviews Neurology, 2012
Genetic risk factors that underlie many rare and common neurological disorders remain poorly understood because of the multifactorial and heterogeneous nature of these complex traits. With the decreasing cost of massively parallel sequencing technologies, whole-genome and whole-exome sequencing will soon allow the characterization of the full spectrum ...
Jia-Nee, Foo, Jian-Jun, Liu, Eng-King, Tan   +2 more
openaire   +2 more sources

Whole-exome sequencing: A changing landscape of prenatal counseling

2022
In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP’s and parents, this implies a change in counseling, other demands for informed decision making and a ...
Diderich, Karin E. M., Klapwijk, Jasmijn E., Joosten, Marieke, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.   +4 more
openaire   +2 more sources

Sample tracking in whole exome sequencing

Clinica Chimica Acta
Owing to its high efficiency, resolution, and thorough coverage, whole exome sequencing (WES) has become an indispensable tool in the diagnosis and research of rare diseases and tumors and the discovery of novel genes. Nonetheless, various challenges, including those related to sample processing, experimental manipulation, and data management, persist ...
Xunhong, Yang, Zhilong, Li, Benyang, Xiao, Weiyu, Zhai, Yu, Tan, Li, Wang   +5 more
openaire   +2 more sources