CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

Coenzyme Q biochemistry and biosynthesis

(2023) Rachel M. Guerra et al.   TRENDS IN BIOCHEMICAL SCIENCES

HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9

(2023) Gemma Llargués-Sistac et al.   Frontiers in Cell and Developmental Biology

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

(2022) Xavier Vanhoye et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening

(2022) Olivia M. D'Annibale et al.   JOURNAL OF INHERITED METABOLIC DISEASE

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

(2022) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genome editing in animals with minimal PAM CRISPR-Cas9 enzymes

(2022) Jeremy Vicencio et al.   Nature Communications

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

(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

Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly

(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

(2020) Jordi Pijuan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution

(2020) Frederic Tort et al.   MOLECULAR GENETICS AND METABOLISM

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

(2020) Sarah L. Stenton et al.   HUMAN MUTATION

An International Classification of Inherited Metabolic Disorders ( ICIMD )

(2020) Carlos R. Ferreira et al.   JOURNAL OF INHERITED METABOLIC DISEASE

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

(2019) Ruqaiah Altassan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

(2019) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: a perspective encompassing genomics, transcriptomics and proteomics

(2019) Sarah Louise Stenton et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Functional Interrogation of Lynch Syndrome Associated MSH2 Missense Variants via CRISPR-Cas9 Gene Editing in Human Embryonic Stem Cells

(2019) Abhijit Rath et al.   HUMAN MUTATION

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

(2019) Laure Frésard et al.   NATURE MEDICINE

Search-and-replace genome editing without double-strand breaks or donor DNA

(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

LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

(2016) Cristina Dallabona et al.   BRAIN

Differential diagnosis of lipoic acid synthesis defects

(2016) Frederic Tort et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

(2015) Patricia Yuste-Checa et al.   HUMAN MUTATION

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

(2015) Erika Fernández-Vizarra et al.   Frontiers in Genetics

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

(2011) Aleix Navarro-Sastre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS