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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
Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies LaFlamme, Christy ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 10/31/2023 Sat Nov 4 10:45am-11am Presenter 004
Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms Khanam, Shirin ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 10/31/2023 PB3269
Most genes are predicted to be Mendelian disease genes: implications for rare and common diseases Chong, Jessica ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 10/31/2023 PB4876
Expanding the range of WNT signaling syndromes: a promoter variant in WNT9B is a candidate in a case with Femoral Facial syndrome. Marvin, Colby ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 10/26/2023 PB4755
Making the call: Trends among successful strategies to conclude the diagnostic odyssey for participants at the Pacific Northwest Undiagnosed Diseases Network clinical site.  Blue, Elizabeth ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 10/26/2023 PB3237
Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach. Rai, Archana ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 09/26/2023 PB1568
Genomic analyses of 281 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel recessive neurodevelopmental rare disease traits Duan, Ruizhi ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 09/26/2023 PB4786
Clinical exome sequencing efficacy and phenotypic expansions in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Rivera-Munoz, Andres ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 09/26/2023 2023-A-1625-ASHG
Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases Bozkurt-Yozgatli, Tugce ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 09/16/2023 2023-A-3286-ASHG
A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools Wiel, Laurens ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 09/12/2023 PB1019
Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing Cohen, Andrea J. ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 09/12/2023 2023-A-3728-ASHG
Driver project for advancing long-read de novo genome assembly methods in clinical research Délot, Emmanuèle ASHG Nov 1-5, 2023 09/12/2023 2023-A-4146-ASHG
Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery Boone, Philip ASHG - American Society of Human Genetics Annual Meeting Nov 1-4, 2023 09/12/2023 2023-A-1559-ASHG
NODAL variation is associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy Dardas, Zain ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 08/29/2023 2023-A-4057-ASHG
MECP2 copy number variants studied by multiple approaches reveal impact of genomic structure to disease variability Bengtsson, Jesse 2023 American Society of Human Genetics Annual Meeting November 1-5 08/25/2023 2023-A-2794-ASHG
Investigating the molecular mechanism of a complex genomic rearrangement causing 6X amplification at 13q33.3 Kaur, Parneet ASHG - American Society of Human Genetics Annual Meeting November 1-5. 2023 08/22/2023 PB3233
VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data Du, Haowei ASHG - American Society of Human Genetics Annual Meeting 11/2/2023 08/22/2023 PB3523
BCM-GREGoR: A rare disease program to solve the unsolved with novel methods and analytical approaches Jhangiani, Shalini ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 08/21/2023 N/A
Break-induced replication mediated by inverted repeats underlie formation of pathogenic inverted triplications Grochowski, Christopher ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 08/15/2023 2023-A-3165-ASHG
A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy Reuter, Chloe ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 08/15/2023 TBD
ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder. Mendez, Hector Rodrigo ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 08/15/2023 2023-A-1571-ASHG
Elucidating the genetic etiology underlying septo-optic dysplasia (SOD) Beheshti, Shaghayegh ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 08/14/2023 2023-A-3727-ASHG
Complex genetic architecture underlying craniofacial microsomia Gogate, Nikhita ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 08/10/2023 3787
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia Munderloh, Chloe ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 08/10/2023 3051
Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport Calame, Daniel ASHG November 1-5, 2023 08/08/2023 n/a
Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation Gustafson, Jonas ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 06/13/2023 na
Data sharing in the GREGoR Consortium to support rare genetic disease research. Heavner, Ben ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 06/08/2023 not available
Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing Patterson, Karynne ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 06/07/2023 TBD
New approaches to increase rare disease diagnoses in GREGoR Montgomery, Stephen Genomics of Rare Disease March 23-26, 2023 04/04/2023 Not available
Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies Boone, Philip ACMG March 14-17, 2023 03/27/2023 159
Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 03/07/2023 O04
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 03/07/2023 P474
Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females Miller, Danny ACMG - American College of Medical Genetics and Genomics March 14-18, 2023 02/24/2023 P672
Identification of TUBGCP2 and CAMSAP1 as novel neuronal migration disorder associated genes Mitani, Tadahiro 65th Annual Meeting of the Japanese Society of Child Neurology May 25-27, 2023 12/18/2022 NA
Genome reference impacts RNA-seq interpretation and rare disease diagnosis Goddard, Pagé and Ungar, Rachel ASHG - American Society of Human Genetics Annual Meeting Oct 25-29, 2022 10/19/2022 ProgNbr 553
Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency. Bonner, Devon ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/18/2022 PB1922
Exome technology innovations advancing personalized medicine Walker, Kimberly ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/14/2022 PB2988
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders Liu, Pengfei ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/14/2022 434
The Multiple de novo Copy Number Variant (MdnCNV) phenomenon: peri-zygotic DNA mutational signatures and multilocus pathogenic variations Haowei Du ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB2703
TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletion Hadia Hijazi ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1981
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder with intellectual disability and variable marfanoid habitus A. Garde ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1974
Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal Moez Dawood ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 ProgNbr 147
Monoallelic variation in the DExH-box helicase DHX9, a product of the DHX9 gene paralog, perturbs neurodevelopment & causes peripheral nerve axon degeneration Daniel Calame ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1920
Large-scale multimodal genomic analyses of 150 consanguineous kindreds from the Middle East and North Africa uncover novel neurodevelopmental disease mechanisms Ruizhi (Vince) Duan ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1898
ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease Scott Barish ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1895
Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort Andy Rivera ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1888
Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins Zain Dardas ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB2303
FOXI3 pathogenic variants cause one form of craniofacial microsomia Stylianos Antonarakis ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB2586
Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder F. G. Frost ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1810
Biallelic RAD51C loss-of-function variants drive perizygotic SNV/indel hypermutator phenotype in a subject with Fanconi anemia complementation group O Roni Zemet Lazar ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1771
Bi-allelic variants in SPOUT1, an RNA methyltransferase functioning in spindle organization, cause a novel neurodevelopment disorder Avinash Dharmadhikari ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 ProgNbr 463
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode Marafi, Dana ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/04/2022 ProgNbr 090
A multiomics approach to resolving small supernumerary marker chromosomes Grochowski, Christopher M. ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/04/2022 PB2248
Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge Sarah L. Stenton ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 09/21/2022 ProgNbr 052