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A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.261-269

2017

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Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

American journal of human genetics, 2010-07, Vol.87 (1), p.52-59

2010

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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

American journal of human genetics, 2016-12, Vol.99 (6), p.1229-1244

2016

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Human molecular genetics, 2013-11, Vol.22 (22), p.4460-4473

2013

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A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Scientific reports, 2021-05, Vol.11 (1), p.9560-9560, Article 9560

2021

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Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Human molecular genetics, 2015-04, Vol.24 (8), p.2297-2307

2015

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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

PloS one, 2017-06, Vol.12 (6), p.e0178125-e0178125

2017

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Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

Journal of personalized medicine, 2022-03, Vol.12 (3), p.502

2022

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A description of novel variants and review of phenotypic spectrum in UBA5 -related early epileptic encephalopathy

Cold Spring Harbor molecular case studies, 2021-06, Vol.7 (3), p.a005827

2021

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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Journal of clinical medicine, 2019-11, Vol.8 (11), p.2020

2019

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Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

PloS one, 2014-08, Vol.9 (8), p.e104879

2014

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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.453-460

2023

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Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine

Biochimica et biophysica acta, 2014-04, Vol.1840 (4), p.1368-1379

2014

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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Genetics in medicine, 2020-07, Vol.22 (7), p.1254-1261

2020

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Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

European journal of human genetics : EJHG, 2024-05

2024

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A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders

Brain & development (Tokyo. 1979), 2022-02, Vol.44 (2), p.142-147

2022

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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism

European journal of human genetics : EJHG, 2024-01, Vol.32 (1), p.125-129

2024

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The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Human mutation, 2020-08, Vol.41 (8), p.1425-1434

2020

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A founder variant expands the phenotype of WNT7B‐related PDAC syndrome

Clinical genetics, 2024-07, Vol.106 (1), p.66-71

2024

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Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Human mutation, 2022-12, Vol.43 (12), p.1970-1978

2022

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FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children

Molecular genetics and metabolism, 2022-01, Vol.135 (1), p.63-71

2022

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Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

American journal of human genetics, 2018-07, Vol.103 (1), p.125-130

2018

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A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

A description of novel variants and review of phenotypic spectrum in UBA5 -related early epileptic encephalopathy

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

A founder variant expands the phenotype of WNT7B‐related PDAC syndrome

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

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