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Molecular findings among patients referred for clinical whole-exome sequencing

JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1870

2014

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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

The Journal of clinical investigation, 2021-01, Vol.131 (1), p.1-13

2021

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The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

Cell metabolism, 2015-03, Vol.21 (3), p.417-427

2015

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Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

The Journal of molecular diagnostics : JMD, 2016-05, Vol.18 (3), p.446-453

2016

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MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress

Cell reports (Cambridge), 2018-04, Vol.23 (4), p.1005-1019

2018

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VDAC2 Inhibits BAK Activation and Mitochondrial Apoptosis

Science (American Association for the Advancement of Science), 2003-07, Vol.301 (5632), p.513-517

2003

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Mitochondrial DNA maintenance defects

Biochimica et biophysica acta. Molecular basis of disease, 2017-06, Vol.1863 (6), p.1539-1555

2017

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Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury

Biomolecules (Basel, Switzerland), 2020-04, Vol.10 (4), p.585

2020

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Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies

Journal of Alzheimer's disease, 2013-01, Vol.37 (4), p.679-690

2013

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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Brain (London, England : 1878), 2010-07, Vol.133 (7), p.2148-2159

2010

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

American journal of human genetics, 2013-09, Vol.93 (3), p.471-481

2013

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VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria

EMBO reports, 2009-12, Vol.10 (12), p.1341-1347

2009

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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Frontiers in neuroscience, 2019-05, Vol.13, p.394-394

2019

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Properties of the permeability transition in VDAC1 −/− mitochondria

Biochimica et biophysica acta, 2006-05, Vol.1757 (5), p.590-595

2006

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Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

The international journal of biochemistry & cell biology, 2014-03, Vol.48, p.85-91

2014

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Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Human mutation, 2013-06, Vol.34 (6), p.882-893

2013

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Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

International journal of molecular sciences, 2017-07, Vol.18 (7), p.1502

2017

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Inhibition of Bak Activation by VDAC2 Is Dependent on the Bak Transmembrane Anchor

The Journal of biological chemistry, 2010-11, Vol.285 (47), p.36876-36883

2010

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Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1

Cell cycle (Georgetown, Tex.), 2009-01, Vol.8 (2), p.257-267

2009

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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Human molecular genetics, 2009-03, Vol.18 (5), p.861-871

2009

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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Genetics in medicine, 2019-04, Vol.21 (4), p.987-993

2019

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Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

Circulation (New York, N.Y.), 2005-11, Vol.112 (18), p.2799-2804

2005

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Genetics in medicine, 2006-12, Vol.8 (12), p.784-792

2006

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Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

PloS one, 2017-11, Vol.12 (11), p.e0188610-e0188610

2017

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Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

PloS one, 2010-12, Vol.5 (12), p.e15687

2010

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Molecular findings among patients referred for clinical whole-exome sequencing

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress

VDAC2 Inhibits BAK Activation and Mitochondrial Apoptosis

Mitochondrial DNA maintenance defects

Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury

Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Properties of the permeability transition in VDAC1 −/− mitochondria

Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

Inhibition of Bak Activation by VDAC2 Is Dependent on the Bak Transmembrane Anchor

Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

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