Emanuela Ponzi

Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi et al. · Journal of Medical Genetics · 2015 · 80 citations

Life Sciences, Genetics, Molecular Genetics +17

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

Alessio Danilo Inchingolo, Assunta Patano, Giovanni Coloccia et al. · Medicina · 2021 · 53 citations · Full text

Dentistry, Craniofacial Biology, Orthodontics +17

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi et al. · European Journal of Human Genetics · 2015 · 47 citations

Life Sciences, Genetics, Molecular Genetics +13

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah K. Bick, Sophia Adelson et al. · Genetics in Medicine · 2025 · 36 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Giulia Cova, Juliane Glaser, Robert Schöpflin et al. · Nature Communications · 2023 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16