Mary L Marazita

ORCID, self-asserted

ORCID 0000-0002-2648-2832

Publications

Citations

503

h-index

Computed over the works the graph holds, so it is a floor rather than a career figure.

i10-index

Publications

10 works in the graph, newest first.

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
2025The American Journal of Human GeneticsJournalOpen access4 citations10.1016/j.ajhg.2025.08.008
Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios
2025The American Journal of Human GeneticsJournalOpen access3 citations10.1016/j.ajhg.2025.09.009
Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk
2025PLoS GeneticsJournalOpen access2 citations10.1371/journal.pgen.1011581
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
2024Human GeneticsJournalOpen access5 citations10.1007/s00439-024-02704-y
The Human Phenotype Ontology in 2024: phenotypes around the world
2023Nucleic Acids ResearchJournalOpen access407 citations10.1093/nar/gkad1005
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
2023Human Genetics and Genomics AdvancesJournalOpen access14 citations10.1016/j.xhgg.2023.100234
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts
2023Molecular Genetics & Genomic MedicineJournalOpen access5 citations10.1002/mgg3.2237
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
2023American Journal of Medical Genetics Part AJournalOpen access3 citations10.1002/ajmg.a.63130
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
2022Scientific ReportsJournalOpen access40 citations10.1038/s41598-022-15885-1
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
2022The Cleft Palate-Craniofacial JournalJournalOpen access6 citations10.1177/10556656221135926