Mary‐Alice Abbott
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Prenatal Screening and Diagnostics, Genomics and Rare Diseases
Most-Cited Works
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → The Insulin Receptor Tyrosine Kinase Substrate p58/53 and the Insulin Receptor Are Components of CNS Synapses(1999)323 cited
- → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
- → GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry(2019)104 cited
- → Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping(2009)77 cited
- → Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome(2018)73 cited
- → Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome(2021)68 cited
- → Improved pulmonary and growth outcomes in cystic fibrosis by newborn screening(2008)42 cited
- → Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions(2020)36 cited
- → Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy(2021)31 cited