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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …
which are polymorphic by nature and become highly unstable in a length-dependent …
[HTML][HTML] On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …
human neurological disease. They have an established role in more than 40 different …
[ספר][B] Amino acids: biochemistry and nutrition
G Wu - 2021 - taylorfrancis.com
Following its predecessor, the second edition of Amino Acids: Biochemistry and Nutrition
presents exhaustive coverage of amino acids in the nutrition, metabolism and health of …
presents exhaustive coverage of amino acids in the nutrition, metabolism and health of …
[HTML][HTML] From anti-SARS-CoV-2 immune responses to COVID-19 via molecular mimicry
D Kanduc - Antibodies, 2020 - mdpi.com
Aim: To define the autoimmune potential of Severe Acute Respiratory Syndrome
Coronavirus 2 (SARS-CoV-2) infection. Methods: Experimentally validated epitopes …
Coronavirus 2 (SARS-CoV-2) infection. Methods: Experimentally validated epitopes …
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …
Glial glutamine homeostasis in health and disease
Glutamine is an essential cerebral metabolite. Several critical brain processes are directly
linked to glutamine, including ammonia homeostasis, energy metabolism and …
linked to glutamine, including ammonia homeostasis, energy metabolism and …
Straglr: discovering and genoty** tandem repeat expansions using whole genome long-read sequences
Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …
Long-read sequencing offers an exciting avenue over conventional technologies for …
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …
created tremendous improvement in achieving an accurate and timely molecular diagnosis …