Recent Publications

Citation	Link
Assessing patient perceptions and understandings of genetic testing after pregnancy loss	PubMed Link
Validation of clinicopathologic features of a genetic myelodysplastic syndrome classification in an independent cohort	PubMed Link
Identification of missense DMC1 variants in males with non-obstructive azoospermia	PubMed Link
Erratum to TKTL1: a new candidate gene in non-obstructive azoospermia Reproductive BioMedicine Online 51/3 (2025) 104895	PubMed Link
Molecular taxonomy of MDS/CMML patients influences responses to hypomethylating agents and clinical outcomes	PubMed Link
TKTL1: a new candidate gene in non-obstructive azoospermia	PubMed Link
Myeloid Neoplasms With Oligomonocytosis Exhibit Heterogenous Pathologic and Genetic Features	PubMed Link
Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results	PubMed 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

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