Elaine J. Marchi

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

This study analyzes neuroimaging data from patients with NAA10- and NAA15-related neurodevelopmental syndromes to identify anatomical abnormalities and their correlation with clinical outcomes.

The paper describes the generation and characterization of patient-derived iPSC lines and isogenic pairs for Ogden syndrome, including CRISPR corrections and X-chromosome screening.

This study reports longitudinal cognitive decline in Ogden syndrome, shows no difference in adaptive behavior by seizure status, and highlights speech therapy's limited effectiveness in early intervention.

The paper evaluates maternal effect lethality and genetic background effects in Naa10 knockout mice, finding no replication of maternal effect lethality but some embryonic lethality in specific genetic backgrounds.

The paper tracks adaptive functioning in individuals with NAA15-related neurodevelopmental disorder over time, finding sex differences in performance and decline.

This study assesses the impact of seizures on cognitive outcomes in individuals with KBG syndrome using Vineland-3 assessments and medical records.

This study reports the prevalence of ophthalmological conditions in 43 KBG syndrome patients, finding higher rates of strabismus and refractive errors compared to literature.

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

The paper expands the phenotypic spectrum of NAA10 and NAA15-related neurodevelopmental syndromes by analyzing clinical data from 106 NAA10 and 66 NAA15 variant carriers, revealing variable severity and multi-system involvement.

This study examines growth failure and gastrointestinal symptoms in children with Ogden Syndrome, finding that G-tubes/GJ-tubes improve weight gain but require careful management.

This study reports on 25 new KBG syndrome patients, identifies common clinical features, and provides recommendations for diagnosis and treatment.

This paper reports a non-consanguineous family with autosomal recessive SLC30A9 mutations associated with a cerebro-renal syndrome and conducts a limited population allele frequency analysis.

The paper identifies Naa12 as a compensatory N-terminal acetyltransferase that rescues Naa10 deficiency in mice, revealing its role in amino-terminal acetylation.