- Genetic models and ASTN1 variant contributions to neurodevelopmental disorders via deficits in astrotactin-mediated neuronal migration
- Genomic analyses of 317 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel autosomal recessive neurodevelopmental rare disease traits
- CSTB null disease demonstrates the exquisite dosage sensitivity of cystatin B in humans
- Technical and ethical considerations and guidelines for return of RNA-seq results for rare disease research participants
- Investigating the genetic etiologies underlying septo-optic dysplasia (SOD)
- A variety of molecular mechanisms cause copy number gains at 17p11.2 locus causing Potocki-Lupski syndrome: understanding patients with CNVs that do not include RAI1
- A multi-omics approach improves the diagnosis and understanding of inborn errors of immunity
- Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine
- Functional assessment of Dishevelled pathogenic variants in Robinow syndrome
- Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR Program
- Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach.
- Elucidating the role of de novo structural variations in a Mendelian disease cohort consisting of 169 families
- De novo variants in GTF2H1 underlie variable syndromic developmental delay
- Investigating the role of the GABA transporter Solute carrier 6 member 1 (SLC6A1) in Mendelian disease traits
- Whole exome sequencing and metabolomics screening of a Kobberling Familial Partial Lipodystrophy cohort identifies new candidate genes and dysregulated pathways
- Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2
- Variants in FGF20 underlie a novel breast malformation
- Prediction at scale of lumping and splitting decisions to define monogenic gene-disease entities
- Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yields
- Benchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratory
- Investigating the genetic and phenotypic landscape of ectodermal dysplasia
- Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies
- Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms
- Most genes are predicted to be Mendelian disease genes: implications for rare and common diseases
- Expanding the range of WNT signaling syndromes: a promoter variant in WNT9B is a candidate in a case with Femoral Facial syndrome.
- Making the call: Trends among successful strategies to conclude the diagnostic odyssey for participants at the Pacific Northwest Undiagnosed Diseases Network clinical site.
- Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach.
- Genomic analyses of 281 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel recessive neurodevelopmental rare disease traits
- Clinical exome sequencing efficacy and phenotypic expansions in Congenital Anomalies of Kidney and Urinary Tract (CAKUT)
- Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases
- A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools
- Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing
- Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery
- NODAL variation is associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
- Investigating the molecular mechanism of a complex genomic rearrangement causing 6X amplification at 13q33.3
- VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data
- BCM-GREGoR: A rare disease program to solve the unsolved with novel methods and analytical approaches
- Break-induced replication mediated by inverted repeats underlie formation of pathogenic inverted triplications
- A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy
- ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder.
- Elucidating the genetic etiology underlying septo-optic dysplasia (SOD)
- Complex genetic architecture underlying craniofacial microsomia
- Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia
- Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation
- Data sharing in the GREGoR Consortium to support rare genetic disease research.
- Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing
- Genome reference impacts RNA-seq interpretation and rare disease diagnosis
- Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency.
- Exome technology innovations advancing personalized medicine
- Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders
- The Multiple de novo Copy Number Variant (MdnCNV) phenomenon: peri-zygotic DNA mutational signatures and multilocus pathogenic variations
- TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletion
- SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder with intellectual disability and variable marfanoid habitus
- Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal
- Monoallelic variation in the DExH-box helicase DHX9, a product of the DHX9 gene paralog, perturbs neurodevelopment & causes peripheral nerve axon degeneration
- Large-scale multimodal genomic analyses of 150 consanguineous kindreds from the Middle East and North Africa uncover novel neurodevelopmental disease mechanisms
- ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease
- Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort
- Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins
- FOXI3 pathogenic variants cause one form of craniofacial microsomia
- Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder
- Biallelic RAD51C loss-of-function variants drive perizygotic SNV/indel hypermutator phenotype in a subject with Fanconi anemia complementation group O
- Bi-allelic variants in SPOUT1, an RNA methyltransferase functioning in spindle organization, cause a novel neurodevelopment disorder
- A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
- A multiomics approach to resolving small supernumerary marker chromosomes
- Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge
