Kelly E. Jackson
University of Louisville(US)Norton Healthcare(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Congenital heart defects research
Most-Cited Works
- → Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants(2012)626 cited
- → Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2(2007)250 cited
- → De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias(2018)148 cited
- → Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)(2006)137 cited
- → A Peripherin/Retinal Degeneration Slow Mutation (Pro-210-Arg) Associated with Macular and Peripheral Retinal Degeneration(1995)77 cited
- → Genome sequencing as a first-line diagnostic test for hospitalized infants(2021)54 cited
- → Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis(2022)22 cited
- → Heme and sensory neuropathy: insights from novel mutations in the heme exporter feline leukemia virus subgroup C receptor 1(2019)21 cited
- → Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis(2023)19 cited
- → Neurotransmitter abnormalities and response to supplementation in SPG11(2012)19 cited