CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
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Title
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
Authors
Keywords
-
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2023-09-18
DOI
10.1002/jimd.12681
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- (2023) Rachel M. Guerra et al. TRENDS IN BIOCHEMICAL SCIENCES
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- (2022) Vicente A. Yépez et al. Genome Medicine
- Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
- (2022) Elise A. Ferreira et al. GENETICS IN MEDICINE
- Linking genome variants to disease: scalable approaches to test the functional impact of human mutations
- (2021) Gregory M Findlay HUMAN MOLECULAR GENETICS
- Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
- (2021) Olivia M. D'Annibale et al. MOLECULAR GENETICS AND METABOLISM
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- (2021) Chuanwu Xia et al. iScience
- Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans
- (2021) Karen I Lange et al. HUMAN MOLECULAR GENETICS
- The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
- (2020) Kym M. Boycott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinico‐genetic, imaging and molecular delineation of COQ8A ‐ataxia: a multicenter study of 59 patients
- (2020) Andreas Traschütz et al. ANNALS OF NEUROLOGY
- A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
- (2020) Yukiko Yatsuka et al. CLINICAL GENETICS
- Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
- (2020) Joseph T. Alaimo et al. GENETICS IN MEDICINE
- Translational diagnostics: an in-house pipeline to validate genetic variants in children with undiagnosed and rare diseases
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- An International Classification of Inherited Metabolic Disorders ( ICIMD )
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- International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
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- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
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- (2019) Laure Frésard et al. NATURE MEDICINE
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- (2019) Andrew V. Anzalone et al. NATURE
- Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
- (2019) Luiz G. Dufner Almeida et al. HUMAN MUTATION
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
- (2019) Sarah E. Brnich et al. Genome Medicine
- Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells
- (2018) Ning Ma et al. CIRCULATION
- The functional genomics laboratory: functional validation of genetic variants
- (2018) Richard J. Rodenburg JOURNAL OF INHERITED METABOLIC DISEASE
- Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
- (2018) Karlien L. M. Coene et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
- (2017) Michael F. Wangler et al. GENETICS
- A p53-dependent response limits the viability of mammalian haploid cells
- (2017) Teresa Olbrich et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genetic diagnosis of Mendelian disorders via RNA sequencing
- (2017) Laura S. Kremer et al. Nature Communications
- Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
- (2017) Michael F. Wangler et al. GENETICS
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- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
- (2008) Alena Čížková et al. NATURE GENETICS
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