Publications
Pushing the boundaries of genomic technology, one study at a time
At Variantyx, we are constantly pushing the boundaries of genomic technology to ensure our patients receive the most accurate and comprehensive diagnosis possible. The following peer-reviewed publications highlight just some of the significant advancements we’ve made in the areas of variant detection and interpretation.
ONT in clinical diagnostics of repeat expansion disorders: Detection and reporting challenges
Int J Mol Sci. 2025 26:2725.
Novel applications of ONT technologies in genomics and transcriptomics
Front Genet. 2024 15:1384584.
An exploratory study of perceptions and utilization of genetic information in the intended parent experience of oocyte donor selection
J Assist Reprod Genet. 2024 41:2999-3011.
Novel missense variant in the SMARCD1 gene as the cause of Coffin-Siris syndrome 11 in a fetus with ambiguous genitalia and multiple dysmorphic features
Prenat Diagn. 2024 44:1522-1525.
Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome
Am J Med Genet. 2024 194:e63719.
A young girl with subacute vision loss
J Neuroophthalmol. 2024 44:e303.
From intention to action: Assessing need and creating a JEDI toolkit for individuals teaching cancer genetics curriculum
J Genet Couns. 2024 33:156-163.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Genet Med. 2023 25:100947.
ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing
Front Genet. 2023 14:1145285.
Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum
Ann Neurol. 2023 94:696-712.
Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on inherited gastrointestinal cancer
J Genet Couns. 2022 31:568-583.
Familial early-onset Alzheimer's caused by novel genetic variant and APP duplication: A cross-sectional study
Curr Alzheimer Res. 2022 19:694-707.
Comparison of germline genetic testing before and after a medical policy covering universal testing among patients with colorectal cancer
JAMA Netw Open. 2022 5:e2238167.
The science and art of clinical genetic variant classification and its impact on test accuracy
Annu Rev Genomics Hum Genet. 2021 22:285-307.
Monogenic causes of apparently idiopathic perinatal intracranial hemorrhage
Ann Neurol. 2021 89:813-822.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome
Am J Med Genet. 2021 185:2766-2775.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
Hum Mutat. 2020 41:2028-2057.
The Temple Grandin genome: Comprehensive analysis in a scientist with high-functioning autism
J Pers Med. 2020 11:21.
A clinically validated whole genome pipeline for structural variant detection and analysis
BMC Genomics. 2019 20:545.
Phospholipase C-gamma 2 activity in Familial steroid-sensitive nephrotic syndrome
Pediatr Res. 2019 85:719-723.
Rare genetic variants in Jewish patients suffering from age-related macular degeneration
Genes (Basel). 2019 10:825.
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews
Eur J Paediatr Neurol. 2019 23:418-426.
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype
Br J Dermatol. 2018 178:1455-1457.
Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing
Clin Genet. 2017 92:645-648.