Platform Session 5: Neurodevelopmental and Biochemical Genetics
21 Mar 2025
Meeting Room:
502 AB
Biochemical/Metabolic and Therapeutics
,
Clinical Genetics and Therapeutics
-
Accredited:
- Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O02 - Detecting Mitochondrial Electron Transport Chain Enzyme Defects in Low-Heteroplasmy Single Large-Scale mtDNA Deletion Syndromes (SLSMDSs)
O17 - Exploring MED27 Gene Pathogenicity in a Neurodevelopmental Disorder with Cerebellar Atrophy
O24 - Heterozygous De novo Variants in CDKL1 and CDKL2 Cause Neuroregressive Phenotypes in Human and Drosophila and are Dominant Negative Alleles
O25 - Molecular Mechanisms of FXTAS: A Transcriptomic and Epigenomic Analysis of Postmortem Prefrontal Cortex (AB-9) Tissue
O31 - X-linked Inheritance Results in Different Sex-specific Phenotypes, Penetrance, Disease Course, Diagnostic Odysseys, and Newborn Screening Sensitivity in Fabry Disease
O32 - ANKRD17-Related Neurodevelopmental Syndrome (Chopra-Amiel-Gordon Syndrome): Further Characterization and Emerging Genotype-Phenotype Correlations
O02 - Detecting Mitochondrial Electron Transport Chain Enzyme Defects in Low-Heteroplasmy Single Large-Scale mtDNA Deletion Syndromes (SLSMDSs)
O17 - Exploring MED27 Gene Pathogenicity in a Neurodevelopmental Disorder with Cerebellar Atrophy
O24 - Heterozygous De novo Variants in CDKL1 and CDKL2 Cause Neuroregressive Phenotypes in Human and Drosophila and are Dominant Negative Alleles
O25 - Molecular Mechanisms of FXTAS: A Transcriptomic and Epigenomic Analysis of Postmortem Prefrontal Cortex (AB-9) Tissue
O31 - X-linked Inheritance Results in Different Sex-specific Phenotypes, Penetrance, Disease Course, Diagnostic Odysseys, and Newborn Screening Sensitivity in Fabry Disease
O32 - ANKRD17-Related Neurodevelopmental Syndrome (Chopra-Amiel-Gordon Syndrome): Further Characterization and Emerging Genotype-Phenotype Correlations
Agenda
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Detecting Mitochondrial Electron Transport Chain Enzyme Defects in Low-Heteroplasmy Single Large-Scale mtDNA Deletion Syndromes (SLSMDSs)1:30 PM – 1:45 PM -
Heterozygous De novo Variants in CDKL1 and CDKL2 Cause Neuroregressive Phenotypes in Human and Drosophila and are Dominant Negative Alleles2:00 PM – 2:15 PM -
Molecular Mechanisms of FXTAS: A Transcriptomic and Epigenomic Analysis of Postmortem Prefrontal Cortex (AB-9) Tissue2:15 PM – 2:30 PM -
X-linked Inheritance Results in Different Sex-specific Phenotypes, Penetrance, Disease Course, Diagnostic Odysseys, and Newborn Screening Sensitivity in Fabry Disease2:30 PM – 2:45 PM -
ANKRD17-Related Neurodevelopmental Syndrome (Chopra-Amiel-Gordon Syndrome): Further Characterization and Emerging Genotype-Phenotype Correlations2:45 PM – 3:00 PM
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