Recent Publications
| Citation | Link |
| Variant allele fraction or copy-neutral loss of heterozygosity? A comparison of testing platforms in the classification of myeloid neoplasia | PubMed Link |
| Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease | PubMed Link |
| SATINN v2: automated image analysis for mouse testis histology with multi-laboratory data integration | PubMed Link |
| Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening | PubMed Link |
| Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists | PubMed Link |
| Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0 | PubMed Link |
| Case Report: An association of left ventricular outflow tract obstruction with 5p deletions | PubMed Link |
| Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families | PubMed Link |
| Hiding in Plain Sight: Radiologic and Pathologic Findings Can Identify Beckwith-Wiedemann Syndrome in Patients With Wilms Tumor | PubMed Link |
| Propensity Score-matched Analysis Comparing Robotic Versus Laparoscopic Minor Liver Resections of the Anterolateral Segments: an International Multi-center Study of 10,517 Cases | PubMed Link |
| The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors | PubMed Link |
| Validation of independent prognostic significance of blast count in a large cohort of MDS patients | PubMed Link |
| Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis | PubMed Link |
| Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG) | PubMed Link |
| Primary Amenorrhea and Premature Ovarian Insufficiency | PubMed Link |
Recent Publications
| Citation | Link |
| Variant allele fraction or copy-neutral loss of heterozygosity? A comparison of testing platforms in the classification of myeloid neoplasia | PubMed Link |
| Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease | PubMed Link |
| SATINN v2: automated image analysis for mouse testis histology with multi-laboratory data integration | PubMed Link |
| Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening | PubMed Link |
| Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists | PubMed Link |
| Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0 | PubMed Link |
| Case Report: An association of left ventricular outflow tract obstruction with 5p deletions | PubMed Link |
| Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families | PubMed Link |
| Hiding in Plain Sight: Radiologic and Pathologic Findings Can Identify Beckwith-Wiedemann Syndrome in Patients With Wilms Tumor | PubMed Link |
| Propensity Score-matched Analysis Comparing Robotic Versus Laparoscopic Minor Liver Resections of the Anterolateral Segments: an International Multi-center Study of 10,517 Cases | PubMed Link |
| The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors | PubMed Link |
| Validation of independent prognostic significance of blast count in a large cohort of MDS patients | PubMed Link |
| Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis | PubMed Link |
| Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG) | PubMed Link |
| Primary Amenorrhea and Premature Ovarian Insufficiency | PubMed Link |