|
| 33283558 | Distinct maternal amino acids and oxylipins predict infant fat mass and fat-free mass indices. | Arch Physiol Biochem | 2023 |
| 37999237 | PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening. | Metabolites | 2023 |
| 37572574 | Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease. | Mol Genet Metab | 2023 |
| 37256937 | PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. | Sci Transl Med | 2023 |
| 37455927 | Investigating the role of ASCC1 in the causation of bone fragility. | Front Endocrinol (Lausanne) | 2023 |
| 37372397 | Case Report-An Inherited Loss-of-Function <i>NRXN3</i> Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. | Genes (Basel) | 2023 |
| 37272928 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 2023 |
| 36916446 | Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress. | EMBO Mol Med | 2023 |
| 36712458 | A case report: New-onset refractory status epilepticus in a patient with <i>FASTKD2</i>-related mitochondrial disease. | Front Neurol | 2023 |
| 36603837 | Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine. | Neuropediatrics | 2023 |
| 36305855 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 2023 |
| 36190515 | Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. | Hum Mol Genet | 2023 |
| 35188226 | Mitochondrial Disease and Hearing Loss in Children: A Systematic Review. | Laryngoscope | 2022 |
| 35506430 | How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. | J Inherit Metab Dis | 2022 |
| 35379322 | Clinical implementation of RNA sequencing for Mendelian disease diagnostics. | Genome Med | 2022 |
| 35394429 | PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. | Genet Med | 2022 |
| 35854315 | A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ÿ-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy. | Orphanet J Rare Dis | 2022 |
| 36553458 | A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome. | Genes (Basel) | 2022 |
| 36421421 | Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease. | Antioxidants (Basel) | 2022 |
| 36055214 | Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. | Am J Hum Genet | 2022 |
| 36079864 | Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. | Nutrients | 2022 |
| 36047608 | Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. | Mov Disord | 2022 |
| 34954817 | Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. | Ann Neurol | 2022 |
| 35044816 | Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. | Sci Adv | 2022 |
| 33024317 | Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. | Genet Med | 2021 |
| 33677401 | Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B. | Seizure | 2021 |
| 33845882 | Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. | Genome Med | 2021 |
| 33771987 | Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. | Nat Commun | 2021 |
| 34381850 | A novel cryptic splice site mutation in <i>COL1A2</i> as a cause of osteogenesis imperfecta. | Bone Rep | 2021 |
| 34468083 | A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder. | EMBO Mol Med | 2021 |
| 34400813 | PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. | Genet Med | 2021 |
| 34750991 | Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. | EMBO Mol Med | 2021 |
| 34389986 | Congenital disorders of glycosylation with defective fucosylation. | J Inherit Metab Dis | 2021 |
| 34799272 | A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I. | Mol Genet Metab | 2021 |
| 34302123 | Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. | Genet Med | 2021 |
| 34043061 | A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. | Mamm Genome | 2021 |
| 33965309 | The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. | Mol Genet Metab | 2021 |
| 33937156 | Case Report and Review of the Literature: A New and a Recurrent Variant in the <i>VARS2</i> Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy. | Front Pediatr | 2021 |
| 34198699 | Three Novel <i>EPCAM</i> Variants Causing Tufting Enteropathy in Three Families. | Children (Basel) | 2021 |
| 34003604 | De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. | Am J Med Genet A | 2021 |
| 34140661 | Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. | Genet Med | 2021 |
| 34140213 | Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. | Mol Genet Metab | 2021 |
| 33999436 | Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. | Ann Neurol | 2021 |
| 33465056 | Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. | J Clin Invest | 2021 |
| 33086386 | Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. | Neuropediatrics | 2021 |
| 32294159 | Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. | Blood | 2020 |
| 32042921 | Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegeneration. | Neurol Genet | 2020 |
| 31883641 | Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. | Am J Hum Genet | 2020 |
| 31761904 | Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. | Genet Med | 2020 |
| 32004446 | Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. | Am J Hum Genet | 2020 |