Meena Upadhyaya

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

Thomas De Raedt, Eline Beert, Éric Pasmant et al. · Nature · 2014 · 461 citations

Transcriptional Regulation, Cell Regulation, Cell Signaling +12

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius et al. · Cell · 1987 · 370 citations · Full text

Neuroregeneration, Developmental Biology, Peripheral Nerves +8

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 360 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetic Epidemiology +8

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

Michael O’Donovan, Peter J. Oefner, Stacy Roberts et al. · Genomics · 1998 · 334 citations

Mutation-based Testing, Engineering, Gas Chromatography +13