David H. Viskochil

Overview

Best Publications

• A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

  Richard M. Cawthon;Robert Weiss;Gangfeng Xu;David Viskochil

  1417
  Citations

• The neurofibromatosis type 1 gene encodes a protein related to GAP

  Gangfeng Xu;Peter O'Connell;David Viskochil;Richard Cawthon

  1379
  Citations

• Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

  David Viskochil;Arthur M. Buchberg;Gangfeng Xu;Richard M. Cawthon

  1355
  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

• 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

• Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.

  Markku M. Miettinen;Cristina R. Antonescu;Christopher D.M. Fletcher;Aerang Kim

  384
  Citations

• Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

  Ute Schell;Andreas Hehr;George J. Feldman;Nathaniel H. Robin

  319
  Citations

• Genomic organization of the neurofibromatosis 1 gene (NF1).

  Ying Li;Peter O'connell;Heidi Huntsman Breidenbach;Richard Cawthon

  305
  Citations

• The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

  Gregory M. Pastores;Pamela Arn;Michael Beck;Joe T R Clarke

  267
  Citations

• Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1

  Rui M. Costa;Tao Yang;Duong P. Huynh;Stefan M. Pulst

  241
  Citations

• Identification of NF1 mutations in both alleles of a dermal neurofibroma

  Shun'ichi Sawada;Scott Florell;Smita M. Purandare;Mayumi Ota

  229
  Citations

• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

  Francesco Brancati;Giuseppe Barrano;Jennifer L. Silhavy;Sarah E. Marsh

  227
  Citations

• Epidermal growth factor receptor expression in neurofibromatosis type 1–related tumors and NF1 animal models

  Jeffrey E. DeClue;Sue Heffelfinger;Giovanna Benvenuto;Bo Ling

  214
  Citations

• Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

  Daniela A. Braun;Jia Rao;Geraldine Mollet;Geraldine Mollet;David Schapiro

  190
  Citations

• Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts.

  Richard M. Cawthon;Peter O'Connell;Arthur M. Buchberg;David Viskochil

  186
  Citations

• Natural history of wolf-hirschhorn syndrome : Experience with 15 cases

  Agatino Battaglia;John C. Carey;Peeches Cederholm;David H. Viskochil

  181
  Citations

• X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.

  William B. Dobyns;Elizabeth Berry-Kravis;Nancy J. Havernick;Kenton R. Holden

  175
  Citations

• The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene.

  David Viskochil;Richard Cawthon;Peter O'Connell;Gangfeng Xu

  175
  Citations

• Double Inactivation of NF1 in Tibial Pseudarthrosis

  David A. Stevenson;David A. Stevenson;Holly Zhou;Shadi Ashrafi;Ludwine M. Messiaen

  174
  Citations

• Skeletal abnormalities in neurofibromatosis type 1 : approaches to therapeutic options

  Florent Elefteriou;Mateusz Kolanczyk;Aaron Schindeler;David H. Viskochil;David H. Viskochil

  174
  Citations