Naomi Yachelevich
Columbia University Irving Medical Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability(2014)353 cited
- → The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants(2018)110 cited
- → Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis(2016)97 cited
- → A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects(2016)69 cited
- → Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging(2019)68 cited
- → Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism(2021)38 cited
- → Generalized Overgrowth Syndromes With Prenatal Onset(2015)11 cited
- → Wolf–Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature(2009)10 cited
- → Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series(2011)9 cited