|
| 36434915 | Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome. | Pediatr Neurol | 2023 |
| 35802027 | Cerebral organoids containing an AUTS2 missense variant model microcephaly. | Brain | 2023 |
| 36434915 | Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome. | Pediatr Neurol | 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 |
| 35802027 | Cerebral organoids containing an AUTS2 missense variant model microcephaly. | Brain | 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 |
| 35091508 | Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. | Cold Spring Harb Mol Case Stud | 2022 |
| 35912263 | Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. | Front Oncol | 2022 |
| 35590059 | Acute lymphoblastic leukemia displays a distinct highly methylated genome. | Nat Cancer | 2022 |
| 35962045 | Author Correction: Comparative and demographic analysis of orang-utan genomes. | Nature | 2022 |
| 35568002 | Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. | Cancer Genet | 2022 |
| 35687047 | Detection of brain somatic variation in epilepsy-associated developmental lesions. | Epilepsia | 2022 |
| 35367578 | p53 mutants G245S and R337H associated with the Li-Fraumeni syndrome regulate distinct metabolic pathways. | Biochimie | 2022 |
| 35412596 | Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant. | Rheumatology (Oxford) | 2022 |
| 36191838 | Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. | J Mol Diagn | 2022 |
| 36411471 | Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. | Acta Neuropathol Commun | 2022 |
| 35534222 | De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. | Cold Spring Harb Mol Case Stud | 2022 |
| 35045382 | A deletion in the N gene of SARS-CoV-2 may reduce test sensitivity for detection of SARS-CoV-2. | Diagn Microbiol Infect Dis | 2022 |
| 34859533 | Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. | Hum Mutat | 2022 |
| 35149534 | Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication. | Cold Spring Harb Mol Case Stud | 2022 |
| 35091509 | Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorder. | Cold Spring Harb Mol Case Stud | 2022 |
| 35091508 | Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. | Cold Spring Harb Mol Case Stud | 2022 |
| 35412596 | Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant. | Rheumatology (Oxford) | 2022 |
| 35534222 | De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. | Cold Spring Harb Mol Case Stud | 2022 |
| 35367578 | p53 mutants G245S and R337H associated with the Li-Fraumeni syndrome regulate distinct metabolic pathways. | Biochimie | 2022 |
| 35568002 | Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. | Cancer Genet | 2022 |
| 35687047 | Detection of brain somatic variation in epilepsy-associated developmental lesions. | Epilepsia | 2022 |
| 35590059 | Acute lymphoblastic leukemia displays a distinct highly methylated genome. | Nat Cancer | 2022 |
| 36411471 | Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. | Acta Neuropathol Commun | 2022 |
| 35912263 | Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. | Front Oncol | 2022 |
| 35962045 | Author Correction: Comparative and demographic analysis of orang-utan genomes. | Nature | 2022 |
| 36191838 | Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. | J Mol Diagn | 2022 |
| 35045382 | A deletion in the N gene of SARS-CoV-2 may reduce test sensitivity for detection of SARS-CoV-2. | Diagn Microbiol Infect Dis | 2022 |
| 34859533 | Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. | Hum Mutat | 2022 |
| 35149534 | Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication. | Cold Spring Harb Mol Case Stud | 2022 |
| 35091509 | Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorder. | Cold Spring Harb Mol Case Stud | 2022 |
| 33074854 | YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. | Am J Surg Pathol | 2021 |
| 33750380 | The genome of the stable fly, Stomoxys calcitrans, reveals potential mechanisms underlying reproduction, host interactions, and novel targets for pest control. | BMC Biol | 2021 |
| 33893698 | Novel morphologic findings in PLAG1-rearranged soft tissue tumors. | Genes Chromosomes Cancer | 2021 |
| 33465168 | A novel sialic acid-binding adhesin present in multiple species contributes to the pathogenesis of Infective endocarditis. | PLoS Pathog | 2021 |
| 34048549 | PTEN somatic mutations contribute to spectrum of cerebral overgrowth. | Brain | 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 |
| 34325695 | Publisher Correction: The genome of the stable fly, Stomoxys calcitrans, reveals potential mechanisms underlying reproduction, host interactions, and novel targets for pest control. | BMC Biol | 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 |
| 34667072 | Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndrome. | Cold Spring Harb Mol Case Stud | 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 |
| 34591593 | Genomic Profiling of Lung Adenocarcinoma in Never-Smokers. | J Clin Oncol | 2021 |
| 34476810 | Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. | Clin Genet | 2021 |