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Author Details

Fernando Scaglia
Baylor College of Medicine
1998
184
53
PMIDPaper TitleJournal TitlePublished Year
37953071Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.Am J Med Genet A2024
36305855Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
37272928Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
36751706Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.Am J Med Genet A2023
36473599Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.Genet Med2023
36537114Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.Am J Med Genet A2023
34510712A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.Am J Med Genet A2022
35796094Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.Am J Med Genet A2022
35606253Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).Mol Genet Metab2022
35698242Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.Genome Med2022
35637064NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.Mol Genet Metab2022
35914366Mitochondrial DNA maintenance defects: potential therapeutic strategies.Mol Genet Metab2022
35317023Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.Adv Genet (Hoboken)2022
35231119Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.Brain2022
34225470Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation.Hypertension2021
33485800TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.Mol Genet Metab2021
33900143Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.J Child Neurol2021
34159722Expansion of the clinical phenotype of GALE deficiency.Am J Med Genet A2021
34159238Petrography descriptions and U-Pb zircon datasets from the Archean Pavas Block, Precambrian of Uruguay.Data Brief2021
32351751Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to <i>De Novo</i> Variants in <i>KRT14</i> and <i>KRT5</i>.Case Rep Pediatr2020
31970900Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.Am J Med Genet A2020
31896620Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.Neurology2020
32071968Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolism.Data Brief2020
31857706Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genet Med2020
32103184Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.Genet Med2020
33129691Clinical trials in mitochondrial disorders, an update.Mol Genet Metab2020
32804429Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.Am J Med Genet A2020
32909658Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.Am J Med Genet A2020
32337332Mitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurol Genet2020
32173240Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Mol Genet Metab2020
30639323Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.Am J Hum Genet2019
31872050<i>GNA11</i> brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.Neurol Genet2019
31216405Reanalysis of Clinical Exome Sequencing Data.N Engl J Med2019
31263215DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genet Med2019
31290619Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.Am J Med Genet A2019
31568715Characterization of the renal phenotype in RMND1-related mitochondrial disease.Mol Genet Genomic Med2019
30740308L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.Mol Genet Metab Rep2019
30864297Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.Am J Med Genet A2019
31027872Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism.Mol Genet Metab2019
30850373De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.Cold Spring Harb Mol Case Stud2019
31171860Palaeoproteomics resolves sloth relationships.Nat Ecol Evol2019
30848071Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.Am J Med Genet A2019
30817854SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.Hum Mutat2019
30815516Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.Glob Pediatr Health2019
30670878Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.Genet Med2019
29330883Genotype-phenotype correlations in individuals with pathogenic RERE variants.Hum Mutat2018
30181955Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong.Mol Genet Metab Rep2018
29950321Mitochondrial DNA replication: clinical syndromes.Essays Biochem2018
30349862Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females.Ann Clin Transl Neurol2018
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Tomasz Gambin
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Neil A Hanchard
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Richard A Gibbs
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Annette Feigenbaum
Rady Children's Hospital and The University of California
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Donna M Muzny
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Zeynep Coban Akdemir
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Lynne A Wolfe
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Jeffrey A Towbin
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Release 1.2