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Author Details

Cynthia J Tifft
National Human Genome Research Institute
1988
131
39
PMIDPaper TitleJournal TitlePublished Year
37988172Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies.J Clin Invest2024
37988172Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies.J Clin Invest2024
36700853Gene expression changes in Tay-Sachs disease begin early in fetal brain development.J Inherit Metab Dis2023
37883914Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.Mol Genet Metab2023
37871851Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.J Lipid Res2023
36965478Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.Am J Hum Genet2023
36897941Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sci Adv2023
36709532Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.Mol Genet Metab2023
37267847A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.EBioMedicine2023
37013900De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.Genet Med2023
36700853Gene expression changes in Tay-Sachs disease begin early in fetal brain development.J Inherit Metab Dis2023
36461157Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.Am J Med Genet A2023
37883914Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.Mol Genet Metab2023
37871851Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.J Lipid Res2023
37013900De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.Genet Med2023
37267847A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.EBioMedicine2023
36965478Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.Am J Hum Genet2023
36709532Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.Mol Genet Metab2023
36461157Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.Am J Med Genet A2023
36897941Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sci Adv2023
34815299Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>).J Med Genet2022
35848209Adults with lysosomal storage diseases in the undiagnosed diseases network.Mol Genet Genomic Med2022
35655070Complex effects on Ca<sub>V</sub>2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.Sci Rep2022
35585789Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.Mol Ther2022
35490291Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.J Inherit Metab Dis2022
35800887Myoclonus generators in sialidosis.Clin Neurophysiol Pract2022
35145305AAV gene therapy for Tay-Sachs disease.Nat Med2022
35144859PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.Mol Genet Metab2022
34815299Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>).J Med Genet2022
35585789Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.Mol Ther2022
35800887Myoclonus generators in sialidosis.Clin Neurophysiol Pract2022
35490291Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.J Inherit Metab Dis2022
35655070Complex effects on Ca<sub>V</sub>2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.Sci Rep2022
35848209Adults with lysosomal storage diseases in the undiagnosed diseases network.Mol Genet Genomic Med2022
35145305AAV gene therapy for Tay-Sachs disease.Nat Med2022
35144859PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.Mol Genet Metab2022
32753397A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.Br J Ophthalmol2021
33807817Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased <sup>1</sup>H NMR-Linked Metabolomics Strategy.Cells2021
33960148Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.Mol Genet Genomic Med2021
33523931Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.Sci Adv2021
32753397A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.Br J Ophthalmol2021
34450229The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.Neurosci Lett2021
34539759GM1 Gangliosidosis-A Mini-Review.Front Genet2021
33807817Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased <sup>1</sup>H NMR-Linked Metabolomics Strategy.Cells2021
33523931Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.Sci Adv2021
34539759GM1 Gangliosidosis-A Mini-Review.Front Genet2021
34450229The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.Neurosci Lett2021
33960148Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.Mol Genet Genomic Med2021
32165008Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Mol Genet Metab2020
32143456Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.J Clin Med2020
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Collaborators

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David R Adams
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Camilo Toro
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Thomas C Markello
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Lynne A Wolfe
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May Christine V Malicdan
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Cornelius F Boerkoel
University of British Columbia
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Ellen Macnamara
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Gretchen Golas
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Murat Sincan
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Mariska Davids
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James C Mullikin
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Catherine Groden
National Institutes of Health Intramural Research Program
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Dimitre R Simeonov
University of California San Francisco
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Leslie G Biesecker
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Prashant Sharma
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Elise Valkanas
Massachusetts General Hospital
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Ariane Soldatos
National Institute of Neurological Disorders and Stroke
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Monte Westerfield
Institute of Neuroscience, University of Oregon
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Miao He
Children's Hospital of Philadelphia
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Valerie Maduro
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Michael F Wangler
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Rena Godfrey
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Release 1.2