|
| 36598158 | A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. | Am J Med Genet A | 2023 |
| 36444934 | Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. | Hum Mol Genet | 2023 |
| 37934770 | Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. | PLoS Genet | 2023 |
| 37745480 | Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium. | bioRxiv | 2023 |
| 37802043 | Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. | Am J Hum Genet | 2023 |
| 37711075 | Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. | J Inherit Metab Dis | 2023 |
| 37790445 | Genetic Sex Validation for Sample Tracking in Clinical Testing. | Res Sq | 2023 |
| 37873367 | Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. | bioRxiv | 2023 |
| 37157980 | Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. | Clin Genet | 2023 |
| 36778386 | Structural variation across 138,134 samples in the TOPMed consortium. | Res Sq | 2023 |
| 37467750 | Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. | Am J Hum Genet | 2023 |
| 37398483 | Functional Genomics of Gastrointestinal <i>Escherichia coli</i> Isolated from Patients with Cancer and Diarrhea. | bioRxiv | 2023 |
| 36960714 | Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. | Circ Genom Precis Med | 2023 |
| 37071725 | Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. | Circ Genom Precis Med | 2023 |
| 36942736 | Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. | Am J Med Genet A | 2023 |
| 36747810 | Structural variation across 138,134 samples in the TOPMed consortium. | bioRxiv | 2023 |
| 37124138 | Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. | HGG Adv | 2023 |
| 37115922 | The genomic landscape of familial glioma. | Sci Adv | 2023 |
| 37366551 | Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. | Pediatr Hematol Oncol | 2023 |
| 37425772 | Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. | medRxiv | 2023 |
| 37292999 | Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load. | bioRxiv | 2023 |
| 36723951 | Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. | JAMA Cardiol | 2023 |
| 36598158 | A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. | Am J Med Genet A | 2023 |
| 37802043 | Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. | Am J Hum Genet | 2023 |
| 37711075 | Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. | J Inherit Metab Dis | 2023 |
| 37745480 | Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium. | bioRxiv | 2023 |
| 37790445 | Genetic Sex Validation for Sample Tracking in Clinical Testing. | Res Sq | 2023 |
| 37934770 | Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. | PLoS Genet | 2023 |
| 37873367 | Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. | bioRxiv | 2023 |
| 37425772 | Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. | medRxiv | 2023 |
| 37157980 | Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. | Clin Genet | 2023 |
| 37124138 | Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. | HGG Adv | 2023 |
| 37115922 | The genomic landscape of familial glioma. | Sci Adv | 2023 |
| 37467750 | Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. | Am J Hum Genet | 2023 |
| 37071725 | Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. | Circ Genom Precis Med | 2023 |
| 37366551 | Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. | Pediatr Hematol Oncol | 2023 |
| 37398483 | Functional Genomics of Gastrointestinal <i>Escherichia coli</i> Isolated from Patients with Cancer and Diarrhea. | bioRxiv | 2023 |
| 37292999 | Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load. | bioRxiv | 2023 |
| 36960714 | Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. | Circ Genom Precis Med | 2023 |
| 36723951 | Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. | JAMA Cardiol | 2023 |
| 36444934 | Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. | Hum Mol Genet | 2023 |
| 36747810 | Structural variation across 138,134 samples in the TOPMed consortium. | bioRxiv | 2023 |
| 36778386 | Structural variation across 138,134 samples in the TOPMed consortium. | Res Sq | 2023 |
| 36942736 | Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. | Am J Med Genet A | 2023 |
| 34329649 | Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. | J Allergy Clin Immunol | 2022 |
| 36112137 | Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. | Genet Med | 2022 |
| 35713195 | Clinical and molecular features of pediatric cancer patients with Lynch syndrome. | Pediatr Blood Cancer | 2022 |
| 35395838 | Best practices for the interpretation and reporting of clinical whole genome sequencing. | NPJ Genom Med | 2022 |
| 36368327 | TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. | Am J Hum Genet | 2022 |
| 36303224 | The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. | Genome Med | 2022 |