Recent Publications

Citation	Link
Multi-omic screening identifies RBMXL3 as a primate-specific RNA-binding protein and candidate regulator of RNA metabolism in human spermatogenesis	PubMed Link
Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes	PubMed Link
Whole-genome doubling drives immune evasion by silencing antigen presentation	PubMed Link
Integrating next-generation sequencing into the routine neuroblastoma workflow identifies actionable genomic alterations and reduces low-yield karyotype testing	PubMed Link
Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions	PubMed 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

To see more publications on PubMed, follow this link.