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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine
Dawood, Moez
ACMG - American College of Medical Genetics and Genomics
March 12-16, 2024
02/20/2024
Featured Platform Presentations: 14-Mar-2024 8:00 AM
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
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
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
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
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
Complex genetic architecture underlying craniofacial microsomia
Gogate, Nikhita
ASHG - American Society of Human Genetics Annual Meeting
November 1-5, 2023
08/10/2023
3787
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
New approaches to increase rare disease diagnoses in GREGoR
Montgomery, Stephen
Genomics of Rare Disease
March 23-26, 2023
04/04/2023
Not available
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
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
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
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
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
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
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
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
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
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
Exome technology innovations advancing personalized medicine
Walker, Kimberly
ASHG - American Society of Human Genetics Annual Meeting
October 25-29, 2022
10/14/2022
PB2988
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
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