|
| 37969032 | The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. | Am J Med Genet A | 2024 |
| 38009418 | Association of genetic and sulcal traits with executive function in congenital heart disease. | Ann Clin Transl Neurol | 2024 |
| 37969032 | The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. | Am J Med Genet A | 2024 |
| 37962958 | Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. | J Clin Invest | 2024 |
| 37962958 | Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. | J Clin Invest | 2024 |
| 38009418 | Association of genetic and sulcal traits with executive function in congenital heart disease. | Ann Clin Transl Neurol | 2024 |
| 36928819 | Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Nat Med | 2023 |
| 37612012 | Neighborhood Childhood Opportunity, Race/Ethnicity, and Surgical Outcomes in Children With Congenital Heart Disease. | J Am Coll Cardiol | 2023 |
| 37158195 | Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. | Genet Med | 2023 |
| 37470118 | Parent-Reported Clinical Utility of Pediatric Genomic Sequencing. | Pediatrics | 2023 |
| 37344639 | Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues. | Commun Biol | 2023 |
| 36778386 | Structural variation across 138,134 samples in the TOPMed consortium. | Res Sq | 2023 |
| 37334874 | Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. | Clin Genet | 2023 |
| 37461450 | The NYCKidSeq randomized controlled trial: Impact of GUÃA digitally enhanced genetic counseling in racially and ethnically diverse families. | medRxiv | 2023 |
| 37199218 | Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. | Circ Genom Precis Med | 2023 |
| 36949526 | The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing. | Pilot Feasibility Stud | 2023 |
| 36881526 | Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. | Elife | 2023 |
| 37196654 | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. | Am J Hum Genet | 2023 |
| 36701153 | Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. | JAMA Netw Open | 2023 |
| 36563179 | Detection of mosaic variants using genome sequencing in a large pediatric cohort. | Am J Med Genet A | 2023 |
| 37127568 | Small open reading frames: a comparative genetics approach to validation. | BMC Genomics | 2023 |
| 36866665 | Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk <i>COL3A1</i> Genotypes. | Circ Genom Precis Med | 2023 |
| 36803080 | Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. | Circ Genom Precis Med | 2023 |
| 36747810 | Structural variation across 138,134 samples in the TOPMed consortium. | bioRxiv | 2023 |
| 37432431 | Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. | JAMA | 2023 |
| 36993157 | Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. | medRxiv | 2023 |
| 36928819 | Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Nat Med | 2023 |
| 37165897 | Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. | Circ Genom Precis Med | 2023 |
| 37162979 | Quantitative prediction of right ventricular and size and function from the electrocardiogram. | medRxiv | 2023 |
| 37612012 | Neighborhood Childhood Opportunity, Race/Ethnicity, and Surgical Outcomes in Children With Congenital Heart Disease. | J Am Coll Cardiol | 2023 |
| 37461450 | The NYCKidSeq randomized controlled trial: Impact of GUÃA digitally enhanced genetic counseling in racially and ethnically diverse families. | medRxiv | 2023 |
| 37158195 | Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. | Genet Med | 2023 |
| 36993157 | Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. | medRxiv | 2023 |
| 36949526 | The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing. | Pilot Feasibility Stud | 2023 |
| 37344639 | Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues. | Commun Biol | 2023 |
| 37470118 | Parent-Reported Clinical Utility of Pediatric Genomic Sequencing. | Pediatrics | 2023 |
| 37334874 | Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. | Clin Genet | 2023 |
| 37165897 | Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. | Circ Genom Precis Med | 2023 |
| 37432431 | Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. | JAMA | 2023 |
| 37199218 | Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. | Circ Genom Precis Med | 2023 |
| 37196654 | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. | Am J Hum Genet | 2023 |
| 37162979 | Quantitative prediction of right ventricular and size and function from the electrocardiogram. | medRxiv | 2023 |
| 37127568 | Small open reading frames: a comparative genetics approach to validation. | BMC Genomics | 2023 |
| 36881526 | Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. | Elife | 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 |
| 36803080 | Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. | Circ Genom Precis Med | 2023 |
| 36866665 | Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk <i>COL3A1</i> Genotypes. | Circ Genom Precis Med | 2023 |
| 36563179 | Detection of mosaic variants using genome sequencing in a large pediatric cohort. | Am J Med Genet A | 2023 |
| 36701153 | Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. | JAMA Netw Open | 2023 |