Abstracts

Below is a list of a list of submitted GREGoR Consortium conference abstracts.

Title Lead Author Name of Professional Meeting Meeting Date(s) Submitted Program #/ID
Expanding the Genetic and Phenotypic Spectrum of Ectodermal Dysplasia Using Short- and Long-Read Genome Sequencing Munderloh, Chloe ACMG - American College of Medical Genetics and Genomics March 10-14, 2026 P145
Multi‑omic analysis enhances diagnostic yield in a cohort of rare disease participants: Results from the GREGoR Stanford Site Mendez, Hector Rodrigo ASHG - American Society of Human Genetics Annual Meeting October 10-14, 2025 4102F
Identification of de novo variants from parent-proband duos via long-read sequencing Boukas, Leandros ASHG - American Society of Human Genetics Annual Meeting October 14-18, 2025 Room 210AB, Level 2
Long-read Genome Sequencing Resolves Genetic Cases Missed by Short-read Sequencing Pitsava, Georgia ASHG - American Society of Human Genetics Annual Meeting October 14-18, 2025 4069F
Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies Pande, Shruti Late Breaking abstract at ASHG - American Society of Human Genetics Annual Meeting Oct 8-11, 2025 Late Breaking Poster Thursday Session
Dysfunction of the cationic amino acid transporter SLC7A1 causes autosomal recessive spastic cerebral palsy & hereditary spastic paraplegia Calame, Daniel ASHG Oct 8-11, 2025 7003T
From Data to Diagnosis: Advancing Rare Disease Research through Collaborative Genomics Grochowski, Christopher ASHG - American Society of Human Genetics Annual Meeting October 14-18 Session 14
Reframing Septo-Optic Dysplasia as a Pathway-Defined Disorder: Insights from a Clinically and Genetically Diverse Cohort Beheshti, Shaghayegh ASHG - American Society of Human Genetics Annual Meeting Oct 14-14, 2025 7042T
A plug-and-play, user-friendly platform to annotate and analyze variants from omics sequencing Rivera-Munoz, Andres/Dawood Moez ASHG - American Society of Human Genetics Annual Meeting Oct 13-18, 2025 Board 2043T
Annotation of Noncoding Regulatory Elements Enables Diagnosis of Rare Disease Romo, Lindsay ASHG - American Society of Human Genetics Annual Meeting October 14-17, 2025 Omics Technologies Poster Wednesday Session
ESMO-MD: Evolutionary Scale Model Optimized on Meta-Domains learns human protein domain embeddings for variant effect prediction Laurens van de Wiel ASHG - American Society of Human Genetics Annual Meeting October 14-18, 2025 4033F
Exons encoding protein domains are associated with increased splice site recognition Laurens van de Wiel AGBT-PH - Advances in Genome Biology and Technology - Precision Health Meeting September 8-10, 2025 304
MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation Laurens van de Wiel ASHG - American Society of Human Genetics Annual Meeting October 14-18, 2025 4109T
The GREGoR multiomics report: web application that integrates disparate omics results into a unified interface. Petrowski, Paul ASHG - American Society of Human Genetics Annual Meeting October 14-18 2025 8023T
Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies PANDE, SHRUTI Late Breaking abstract at ASHG - American Society of Human Genetics Annual Meeting October 14-18, 2025 Late Breaking Poster Thursday Session (Board 2004T)
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