|
| 36711854 | Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing. | bioRxiv | 2023 |
| 37873117 | Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs. | bioRxiv | 2023 |
| 36586412 | Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. | Am J Hum Genet | 2023 |
| 36711854 | Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing. | bioRxiv | 2023 |
| 37511639 | Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit. | J Pers Med | 2023 |
| 37161864 | Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing. | Genet Med | 2023 |
| 37511639 | Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit. | J Pers Med | 2023 |
| 37873117 | Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs. | bioRxiv | 2023 |
| 37161864 | Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing. | Genet Med | 2023 |
| 36586412 | Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. | Am J Hum Genet | 2023 |
| 34930662 | Genome sequencing as a first-line diagnostic test for hospitalized infants. | Genet Med | 2022 |
| 36112847 | Short-Term Administration of HIV Protease Inhibitor Saquinavir Improves Skull Bone Healing with Enhanced Osteoclastogenesis. | Plast Reconstr Surg | 2022 |
| 36414972 | Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. | Genome Med | 2022 |
| 34930662 | Genome sequencing as a first-line diagnostic test for hospitalized infants. | Genet Med | 2022 |
| 36414972 | Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. | Genome Med | 2022 |
| 36112847 | Short-Term Administration of HIV Protease Inhibitor Saquinavir Improves Skull Bone Healing with Enhanced Osteoclastogenesis. | Plast Reconstr Surg | 2022 |
| 32989269 | Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls. | Genet Med | 2021 |
| 33961779 | Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. | Am J Hum Genet | 2021 |
| 33843487 | The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life. | AJOB Empir Bioeth | 2021 |
| 33937879 | Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. | HGG Adv | 2021 |
| 32989269 | Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls. | Genet Med | 2021 |
| 33411788 | Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy. | PLoS Genet | 2021 |
| 33843487 | The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life. | AJOB Empir Bioeth | 2021 |
| 33937879 | Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. | HGG Adv | 2021 |
| 33961779 | Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. | Am J Hum Genet | 2021 |
| 33411788 | Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy. | PLoS Genet | 2021 |
| 31588853 | Calvarial Versus Long Bone: Implications for Tailoring Skeletal Tissue Engineering. | Tissue Eng Part B Rev | 2020 |
| 31588853 | Calvarial Versus Long Bone: Implications for Tailoring Skeletal Tissue Engineering. | Tissue Eng Part B Rev | 2020 |
| 31999386 | BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. | Hum Mutat | 2020 |
| 31879022 | ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. | Am J Hum Genet | 2020 |
| 32483341 | A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. | Eur J Hum Genet | 2020 |
| 32645220 | Defining the phenotype of FHF1 developmental and epileptic encephalopathy. | Epilepsia | 2020 |
| 32802946 | <i>Fibulin-5</i> mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis. | Neurol Genet | 2020 |
| 33108757 | Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. | Am J Hum Genet | 2020 |
| 31999386 | BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. | Hum Mutat | 2020 |
| 31879022 | ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. | Am J Hum Genet | 2020 |
| 33108757 | Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. | Am J Hum Genet | 2020 |
| 32802946 | <i>Fibulin-5</i> mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis. | Neurol Genet | 2020 |
| 32645220 | Defining the phenotype of FHF1 developmental and epileptic encephalopathy. | Epilepsia | 2020 |
| 32483341 | A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. | Eur J Hum Genet | 2020 |
| 30639322 | ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. | Am J Hum Genet | 2019 |
| 31693580 | Clinical utility of genomic sequencing. | Curr Opin Pediatr | 2019 |
| 31836585 | Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. | Cold Spring Harb Mol Case Stud | 2019 |
| 31603891 | Evaluating the strength of genetic results: Risks and responsibilities. | PLoS Genet | 2019 |
| 30339591 | Reconstruction of a Calvarial Wound Complicated by Infection: Comparing the Effects of Biopatterned Bone Morphogenetic Protein 2 and Vascular Endothelial Growth Factor. | J Craniofac Surg | 2019 |
| 30287922 | Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. | Genet Med | 2019 |
| 30371827 | CADD: predicting the deleteriousness of variants throughout the human genome. | Nucleic Acids Res | 2019 |
| 30370787 | Molecular Analyses in a Rabbit Model of Craniosynostosis: Likely Exclusion of Known Candidate Genes as the Loci of Origin. | Cleft Palate Craniofac J | 2019 |
| 30639322 | ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. | Am J Hum Genet | 2019 |
| 31136482 | Interleukin-10 Does Not Augment Osseous Regeneration in the Scarred Calvarial Defect Achieved with Low-Dose Biopatterned BMP2. | Plast Reconstr Surg | 2019 |