Jennifer McCallum

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Lynette A. Gillis, Jennifer McCallum, Maninder Kaur et al. · The American Journal of Human Genetics · 2004 · 312 citations · Full text

Genotype-phenotype Correlations, Mendelian Disorder, Genetic Disorder +9

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

Maninder Kaur, Cheryl DeScipio, Jennifer McCallum et al. · American Journal of Medical Genetics Part A · 2005 · 129 citations · Full text

Developmental Biology, Cell Division, Genetic Disorder +13

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Maninder Kaur, Justin Blair, Batsal Devkota et al. · American Journal of Medical Genetics Part A · 2023 · 37 citations · Full text

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late‐onset Friedreich ataxia

Catherine A. Stolle, Edward C. Frackelton, Jennifer McCallum et al. · Movement Disorders · 2008 · 31 citations

Rare Diseases, Interrupted Gaa Repeats, Mendelian Disorder +14