Meena Upadhyaya

Meena Upadhyaya publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Meena Upadhyaya sits on this spectrum.

Meena Upadhyaya D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Meena Upadhyaya sits on this spectrum.

Overview

Best Publications

• Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

  Rosalie E Ferner;Susan M Huson;Nick Thomas;Celia Moss

  1157
  Citations

• Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

  E. Nelis;C. van Broeckhoven;E.C.M. Mariman;A.A.W.M. Gabreëls-Festen

  515
  Citations

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

  B.R. Seizinger;G.A. Rouleau;L.J. Ozelius;A.H. Lane

  474
  Citations

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

  E Legius;L Messiaen;P Wolkenstein;P Pancza

  468
  Citations

• Molecular genetics of neurofibromatosis type 1 (NF1).

  Ming Hong Shen;P. S. Harper;M. Upadhyaya

  467
  Citations

• Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection

  Michael C. O'Donovan;Peter J. Oefner;Stacy C. Roberts;Jehannine Austin

  457
  Citations

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

  Thomas De Raedt;Eline Beert;Eric Pasmant;Armelle Luscan

  450
  Citations

• 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

  M. Upadhyaya;S. M. Huson;M. Davies;N. Thomas

  440
  Citations

• NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

  Jenny Douglas;Sandra Hanks;I. Karen Temple;Sally Davies

  311
  Citations

• Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

  Peter W. Lunt;Philip E. Jardine;Manuela C. Koch;Julie Maynard

  288
  Citations

• The NF1 somatic mutational landscape in sporadic human cancers

  Charlotte Philpott;Hannah Tovell;Ian Martin Frayling;David Neil Cooper

  285
  Citations

• NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype†

  Eric Pasmant;Audrey Sabbagh;Gillian Spurlock;Ingrid Laurendeau

  261
  Citations

• Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

  D. Jadayel;P. Fain;M. Upadhyaya;M. A. Ponder

  251
  Citations

• Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues

  Shyra J. Miller;Fatima Rangwala;Jon Williams;Peter Ackerman

  234
  Citations

• Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

  Meena Upadhyaya;M. Ruggieri;Julie Helen Maynard;M. Osborn

  218
  Citations

• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

  Kitiwan Rojnueangnit;Kitiwan Rojnueangnit;Jing Xie;Alicia Gomes;Angela Sharp

  198
  Citations

• Recombination hotspot in NF1 microdeletion patients

  Catalina López-Correa;Michael Dorschner;Hilde Brems;Conxi Lázaro

  195
  Citations

• Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

  Magdalena Koczkowska;Yunjia Chen;Tom Callens;Alicia Gomes

  195
  Citations

• Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

  Richard J.L.F. Lemmers;Jelle J. Goeman;Patrick J. van der Vliet;Merlijn P. van Nieuwenhuizen

  185
  Citations

• NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 31:E1506-E1518

  Eric Pasmant;Audrey Sabbagh;Gill Spurlock;Ingrid Laurendeau

  19
  Citations