Meena Upadhyaya

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