Cargando…

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BACKGROUND: Massively parallel DNA sequencing (MPS) has the potential to revolutionize diagnostics, in particular for monogenic disorders. Inborn errors of metabolism (IEM) constitute a large group of monogenic disorders with highly variable clinical presentation, often with acute, nonspecific initi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Methodology Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299811/ https://www.ncbi.nlm.nih.gov/pubmed/25495354 http://dx.doi.org/10.1186/1471-2164-15-1090

Ejemplares similares

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
por: Freyer, Christoph, et al.
Publicado: (2015)

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
por: Bruhn, Helene, et al.
Publicado: (2021)

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)
por: Engvall, Martin, et al.
Publicado: (2021)

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
por: Rasi, Chiara, et al.
Publicado: (2022)

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
por: Sörensen, Lene, et al.
Publicado: (2020)

Loqusdb: added value of an observations database of local genomic variation
por: Magnusson, Måns, et al.
Publicado: (2020)

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
por: Stödberg, Tommy, et al.
Publicado: (2020)

SUV3 helicase is required for correct processing of mitochondrial transcripts
por: Clemente, Paula, et al.
Publicado: (2015)

MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid
por: Andréasson, Mattias, et al.
Publicado: (2019)

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
por: Siibak, Triinu, et al.
Publicado: (2017)

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
por: Tegelberg, Saara, et al.
Publicado: (2017)

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation
por: Bratic, Ana, et al.
Publicado: (2016)

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy
por: Maffezzini, Camilla, et al.
Publicado: (2019)

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3
por: Ben-Shabat, Ilan, et al.
Publicado: (2023)

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation
por: Calvo-Garrido, Javier, et al.
Publicado: (2019)

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
por: Stranneheim, Henrik, et al.
Publicado: (2021)

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
por: Kishita, Yoshihito, et al.
Publicado: (2015)

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo
por: Pajak, Aleksandra, et al.
Publicado: (2019)

First Year of TREC-Based National SCID Screening in Sweden
por: Göngrich, Christina, et al.
Publicado: (2021)

Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro
por: Calvo-Garrido, Javier, et al.
Publicado: (2021)

Surge of immune cell formation at birth differs by mode of delivery and infant characteristics—A population-based cohort study
por: Schlinzig, Titus, et al.
Publicado: (2017)

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
por: Paucar, Martin, et al.
Publicado: (2018)

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study
por: Barbaro, Michela, et al.
Publicado: (2016)

The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters
por: Schober, Florian A., et al.
Publicado: (2021)

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits
por: Schober, Florian A., et al.
Publicado: (2021)

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy
por: Vaz, Raquel, et al.
Publicado: (2022)

The Bicoid Stability Factor Controls Polyadenylation and Expression of Specific Mitochondrial mRNAs in Drosophila melanogaster
por: Bratic, Ana, et al.
Publicado: (2011)

Metabolic regulation of neurodifferentiation in the adult brain
por: Maffezzini, Camilla, et al.
Publicado: (2020)

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
por: Lindstrand, Anna, et al.
Publicado: (2019)

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies
por: Henry, Olivia J., et al.
Publicado: (2023)

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing
por: Clemente, Paula, et al.
Publicado: (2022)

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse
por: Filograna, R., et al.
Publicado: (2019)

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals
por: Wredenberg, Anna, et al.
Publicado: (2013)

Inborn Errors of Immunity and Cancer
por: Tiri, Alessandra, et al.
Publicado: (2021)

Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study
por: Stödberg, Tommy, et al.
Publicado: (2020)

The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients
por: Lajic, Svetlana, et al.
Publicado: (2020)

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
por: Zetterström, Rolf H., et al.
Publicado: (2020)

Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription
por: Freyer, Christoph, et al.
Publicado: (2010)

Epidermal growth factor (EGF) withdrawal masks gene expression differences in the study of pituitary adenylate cyclase-activating polypeptide (PACAP) activation of primary neural stem cell proliferation
por: Sievertzon, Maria, et al.
Publicado: (2005)

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
por: Hammarsjö, Anna, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_gd4emcq9ehikjnqiok46uri9mu