Posters

Deciphering DHX9 gene pathogenicity in neurological disorders with distinct phenotypes

Deciphering DHX9 gene pathogenicity in neurological dis...

66

DrBioRight: an AI research assistant for cancer data analysis

DrBioRight: an AI research assistant for cancer data an...

73

Cancer Phenotypes of Hypomorphic versus Non-Functional TP53 Variants in Li-Fraumeni Syndrome

Cancer Phenotypes of Hypomorphic versus Non-Functional ...

97

Improving Detection of Variant MECOM Rearrangements Through Optical Genome Mapping and Repurposed Targeted RNA-Seq

Improving Detection of Variant MECOM Rearrangements Thr...

11146

Prevalence of Cancer Predisposition Variants in a Pediatric Pineoblastoma Cohort

Prevalence of Cancer Predisposition Variants in a Pedia...

66

Comprehensive Pan-Cancer Assessment of the APC I1307K Variant Reveals Ancestry-Independent Colorectal Cancer Risk

Comprehensive Pan-Cancer Assessment of the APC I1307K V...

90

Prevalence and Tumor Characteristics of Patients with TMEM127 Pathogenic Variants in a Large, Pan-Cancer Cohort

Prevalence and Tumor Characteristics of Patients with T...

2977

Evaluating the Role of Mitochondrial Dysfunction in Muscle Cell Differentiation in an iPSC-derived Skeletal Muscle Model of Barth Syndrome

Evaluating the Role of Mitochondrial Dysfunction in Mus...

138

Sepiapterin Responsiveness Over 14 Days in Children and Adults with Phenylketonuria: Pooled Results from Three Phase 3 Clinical Trials

Sepiapterin Responsiveness Over 14 Days in Children and...

123

Re-evaluation of Genotype-Phenotype Correlations in D-Bifunctional Protein Deficiency in a Phenotypically Diverse Cohort of 27 Natural History Study Participants

Re-evaluation of Genotype-Phenotype Correlations in D-B...

101

Inhibiting Wnt/β-catenin-mTOR Signaling Enhances Porphyrin Clearance in Porphyrias with Hepatic Involvement

Inhibiting Wnt/β-catenin-mTOR Signaling Enhances Porphy...

2396

Multi-Omic Evaluation of Glycosylation Restoration Therapy in SLC35A2-CDG

Multi-Omic Evaluation of Glycosylation Restoration Ther...

67

Defining the Genotype-CRIM Status Relationship in a Large Cohort of 215 Patients with Infantile-onset Pompe Disease

Defining the Genotype-CRIM Status Relationship in a Lar...

115

Growth Outcomes and Safety of Navepegritide in Children with Achondroplasia: Results of the ApproaCH Trial Open Label Extension

Growth Outcomes and Safety of Navepegritide in Children...

760

Mitochondrial Function in Fibroblasts from a Patient with Congenital NAD Deficiency due to Biallelic NADSYN1 Variants

Mitochondrial Function in Fibroblasts from a Patient wi...

103

PROTEIN TARGETS OF CO2-DEPENDENT LYSINE CARBOXYLATION IN THE MOUSE BRAIN

PROTEIN TARGETS OF CO2-DEPENDENT LYSINE CARBOXYLATION I...

149

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