Mary L. Marazita

This study identifies de novo structural variants in individuals with orofacial clefts and finds they contribute to genetic risk, with some variants disrupting known risk genes and suggesting new candidate genes.

The paper performs trio-based GWAS on cleft lip subtypes to identify novel genetic loci associated with specific phenotypes.

This study identifies novel genetic drivers of orofacial clefts by analyzing de novo variants in 2,497 trios and integrating findings across subtypes and syndromic status.

The paper analyzes the laterality, symmetry, and completeness of nonsyndromic orofacial clefts in a multiethnic cohort, finding sex, race, and ethnicity influence these traits but not completeness.

The paper identifies differentially methylated CpG sites in twins discordant for NSCL/P, linking them to retinoic acid signaling and chromatin regulation.

This paper uses 3D facial morphometry to analyze facial shape changes in Cri-du-Chat syndrome and related genetic conditions, identifying genotype-phenotype correlations and critical genomic regions.

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

The paper investigates gene-environment interactions involving maternal exposures and orofacial cleft risk in Filipinos, identifying suggestive interactions with smoking and vitamin use.

The paper annotates de novo variants near GWAS loci for cleft lip with or without cleft palate, finding noncoding variants in enhancer regions associated with craniofacial development genes.

INMTD integrates omics and 3D imaging data to produce unconfounded individual subgroups with biologically meaningful embeddings.

The paper identifies protein-altering de novo variants in CP probands, finding higher enrichment in syndromic cases and distinct biological enrichments in single-cell RNA sequencing datasets.

This study identifies three new genetic loci associated with orofacial cleft risk and confirms known risk genes, providing insights into the molecular mechanisms of facial development.

The paper identifies genomic loci associated with achondroplasia-like facial variation in the general population using a syndrome-informed phenotyping approach.

The paper identifies sex-specific genetic risks for cleft palate through genome-wide gene-by-sex interaction analysis in a trio-based cohort.

netMUG identifies actionable subgroups using network-guided multi-view clustering, showing improved performance over existing methods in synthetic and real data.

This paper introduces a method to extract genetically relevant facial phenotypes by optimizing trait heritability, showing higher heritability and better GWAS performance compared to principal components.

This study performs a joint multi-ancestry and admixed GWAS on cranial vault shape, identifying 30 genome-wide significant loci and highlighting genetic pathways involved in craniofacial development.

This study performs trio-based GWAS to identify genetic risk factors for cleft palate subtypes, finding a genome-wide significant locus and subtype-specific associations.

The paper uses whole-exome sequencing to identify rare variants in multiplex families with orofacial clefts, finding variants in seven families but no clear evidence that subclinical phenotypes clarify inheritance patterns.

The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.

This study identifies rare variants in SEC24D associated with orofacial cleft subtypes and shows they affect transcription factor binding sites.

The paper identifies gene-environment interactions associated with orofacial cleft risk, highlighting VGLL2 and PRL as key genes interacting with alcohol and smoking, respectively.

The paper identifies a genetic modifier, FAT4, associated with left-sided cleft lip and palate, suggesting genetic factors differ from epidemiological patterns.

The paper investigates genetic differences between bilateral and unilateral cleft lip and palate subtypes using genome-wide association studies and finds distinct genetic architectures.

The paper investigates the impact of low-frequency coding variants on facial shape in Europeans, identifying seven genes associated with facial morphology and showing a specific variant's effect on chin shape.

This study identifies 203 genomic regions associated with facial variation using GWAS on multivariate shape phenotypes, revealing novel regions and epistatic interactions.

The paper identifies novel genetic loci associated with nicotine dependence and shows genetic correlations with other smoking traits and comorbidities using genome-wide association studies.

The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.

This study investigates whether genetic liability to non-syndromic cleft lip/palate influences educational attainment and intelligence, finding little evidence of shared genetic causation.

This study uses whole genome sequencing of OFC trios to identify a new locus on chromosome 21 associated with OFCs in Colombian families.