Recent Publications
| Citation | Link |
| Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots | PubMed Link |
| B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21 | PubMed Link |
| Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database | PubMed Link |
| Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program | PubMed Link |
| Response to Righetti et al | PubMed Link |
| Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency | PubMed Link |
| Enhancing Molecular and Cytogenetic Fellow Education With an Integrative Hematopathology/Molecular Genetic Pathology Joint Conference | PubMed Link |
| Therapy-related myeloid neoplasms with different latencies: a detailed clinicopathologic analysis | PubMed Link |
| Histopathologic, immunophenotypic, and mutational landscape of follicular lymphomas with plasmacytic differentiation | PubMed Link |
| Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) | PubMed Link |
| Whole-genome sequencing of H3K4me3 and DNA methylation in human sperm reveals regions of overlap linked to fertility and development | PubMed Link |
| Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) | PubMed Link |
| Reproductive outcomes in individuals with chromosomal reciprocal translocations | PubMed Link |
| Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure | PubMed Link |
| Mixed phenotype acute leukemia in a child associated with a NUP98-NSD1 fusion and NRAS p.Gly61Arg mutation | PubMed Link |
Recent Publications
| Citation | Link |
| Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots | PubMed Link |
| B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21 | PubMed Link |
| Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database | PubMed Link |
| Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program | PubMed Link |
| Response to Righetti et al | PubMed Link |
| Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency | PubMed Link |
| Enhancing Molecular and Cytogenetic Fellow Education With an Integrative Hematopathology/Molecular Genetic Pathology Joint Conference | PubMed Link |
| Therapy-related myeloid neoplasms with different latencies: a detailed clinicopathologic analysis | PubMed Link |
| Histopathologic, immunophenotypic, and mutational landscape of follicular lymphomas with plasmacytic differentiation | PubMed Link |
| Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) | PubMed Link |
| Whole-genome sequencing of H3K4me3 and DNA methylation in human sperm reveals regions of overlap linked to fertility and development | PubMed Link |
| Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) | PubMed Link |
| Reproductive outcomes in individuals with chromosomal reciprocal translocations | PubMed Link |
| Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure | PubMed Link |
| Mixed phenotype acute leukemia in a child associated with a NUP98-NSD1 fusion and NRAS p.Gly61Arg mutation | PubMed Link |