Recent Publications

Citation	Link
The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death	PubMed Link
Genetics of Primary Ovarian Insufficiency	PubMed Link
Tex11 Mutant Mouse Models of Human Azoospermia	PubMed Link
Comprehensive evaluation of ACMG/AMP-based variant classification tools	PubMed Link
Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma	PubMed Link
Mapping Chemical-Gene Interactions for Developmental Lethality and Pregnancy Loss	PubMed Link
Genetic Variants in Recurrent Euploid Pregnancy Loss	PubMed 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

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