|
| 36827605 | Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease). | Brain Pathol | 2023 |
| 35716171 | Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. | Genes Chromosomes Cancer | 2023 |
| 37706184 | CRISPR-Cas9 homology-independent targeted integration of exons 1-19 restores full-length dystrophin in mice. | Mol Ther Methods Clin Dev | 2023 |
| 36585450 | Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. | Nat Cancer | 2023 |
| 36827605 | Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease). | Brain Pathol | 2023 |
| 37706184 | CRISPR-Cas9 homology-independent targeted integration of exons 1-19 restores full-length dystrophin in mice. | Mol Ther Methods Clin Dev | 2023 |
| 35716171 | Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. | Genes Chromosomes Cancer | 2023 |
| 36585450 | Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. | Nat Cancer | 2023 |
| 36191838 | Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. | J Mol Diagn | 2022 |
| 35912263 | Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. | Front Oncol | 2022 |
| 35687047 | Detection of brain somatic variation in epilepsy-associated developmental lesions. | Epilepsia | 2022 |
| 35737725 | Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery. | PLoS Genet | 2022 |
| 35788257 | High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. | Blood Adv | 2022 |
| 36191838 | Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. | J Mol Diagn | 2022 |
| 35737725 | Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery. | PLoS Genet | 2022 |
| 35788257 | High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. | Blood Adv | 2022 |
| 35687047 | Detection of brain somatic variation in epilepsy-associated developmental lesions. | Epilepsia | 2022 |
| 35912263 | Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. | Front Oncol | 2022 |
| 33074854 | YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. | Am J Surg Pathol | 2021 |
| 34278266 | Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. | iScience | 2021 |
| 34041825 | Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. | Genes Chromosomes Cancer | 2021 |
| 33827698 | Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. | Acta Neuropathol Commun | 2021 |
| 33822938 | Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population. | Gigascience | 2021 |
| 33074854 | YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. | Am J Surg Pathol | 2021 |
| 34863095 | Discovery of clinically relevant fusions in pediatric cancer. | BMC Genomics | 2021 |
| 34386729 | Evidence of pioneer factor activity of an oncogenic fusion transcription factor. | iScience | 2021 |
| 34895332 | Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. | Acta Neuropathol Commun | 2021 |
| 34716204 | Somatic variation as an incidental finding in the pediatric next-generation sequencing era. | Cold Spring Harb Mol Case Stud | 2021 |
| 33827698 | Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. | Acta Neuropathol Commun | 2021 |
| 33822938 | Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population. | Gigascience | 2021 |
| 34895332 | Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. | Acta Neuropathol Commun | 2021 |
| 34863095 | Discovery of clinically relevant fusions in pediatric cancer. | BMC Genomics | 2021 |
| 34716204 | Somatic variation as an incidental finding in the pediatric next-generation sequencing era. | Cold Spring Harb Mol Case Stud | 2021 |
| 34386729 | Evidence of pioneer factor activity of an oncogenic fusion transcription factor. | iScience | 2021 |
| 34041825 | Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. | Genes Chromosomes Cancer | 2021 |
| 34278266 | Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. | iScience | 2021 |
| 32371413 | Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience. | Cold Spring Harb Mol Case Stud | 2020 |
| 32081490 | Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. | Ophthalmology | 2020 |
| 32023625 | Prediction of short-term neonatal complications in preterm infants using exome-wide genetic variation and gestational age: a pilot study. | Pediatr Res | 2020 |
| 32371413 | Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience. | Cold Spring Harb Mol Case Stud | 2020 |
| 31949013 | <i>De novo</i> primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) <i>NFIA/CBFA2T3</i> translocation. | Haematologica | 2020 |
| 32081490 | Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. | Ophthalmology | 2020 |
| 32023625 | Prediction of short-term neonatal complications in preterm infants using exome-wide genetic variation and gestational age: a pilot study. | Pediatr Res | 2020 |
| 31949013 | <i>De novo</i> primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) <i>NFIA/CBFA2T3</i> translocation. | Haematologica | 2020 |
| 29728705 | Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. | Mol Psychiatry | 2019 |
| 29728705 | Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. | Mol Psychiatry | 2019 |
| 31278392 | Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. | Eur J Hum Genet | 2019 |
| 31271967 | Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. | iScience | 2019 |
| 31195167 | Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. | Eur J Med Genet | 2019 |
| 31271967 | Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. | iScience | 2019 |