S. Hussain Askree

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Chromosomal and Genetic Variations, Genetic Syndromes and Imprinting, Genomics and Phylogenetic Studies

Most-Cited Works

• → A genome-wide screen for Saccharomyces cerevisiae deletion mutants that affect telomere length(2004)352 cited
• → Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients(2018)184 cited
• → Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene(2011)63 cited
• → Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing(2016)39 cited
• → Detection limit of intragenic deletions with targeted array comparative genomic hybridization(2013)18 cited
• → Allelic Dropout Can Cause False-Positive Results for Prader-Willi and Angelman Syndrome Testing(2011)16 cited
• → Parent-of-Origin Testing for 15q11-q13 Gains by Quantitative DNA Methylation Analysis(2012)11 cited
• → P751: Challenges in interpretation of RNA-Seq data limit variant reclassification(2024)
• Identification of >150 novel genes that affect telomere length and discovery of a link between vitamin B6 salvage and telomere metabolism(2005)
• → Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8(2024)