David Viskochil - Concepedia

Author

David Viskochil

Also Known As

Au, Ping Yee Billie, D H Viskochil, D Viskochil, D. H. Viskochil, D. Viskochil, D.H. Viskochil, DAVID VISKOCHIL, David H Viskochil, David H. Viskochil, David Schiff

314

Publications

15.2K

Citations

H-Index

147

Concepts

All Affiliations

University of Utah Boston Children's Hospital Children's Hospital of Philadelphia Cincinnati Children's Hospital Medical Center University of Alabama at Birmingham

About

David Viskochil is an author at University of Utah specializing in medicine, neuropathology, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	36	60	7.4K
2	Health Sciences	5	5	126
3	Public Health	5	5	379
4	Education	1	1	27
5	Natural Sciences	1	1	13

David Viskochil

141

Publications

12.7K

Citations

H-Index

Page 1

	Year	Citations
The neurofibromatosis type 1 gene encodes a protein related to GAP Gangfeng Xu, P. O’Connell, David Viskochil, Cell Developmental BiologyNeurogenomicsNeurofibromatosis Type 1Molecular NeurobiologyNeuropathology	1990	1.1K
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations Richard Cawthon, Robert B. Weiss, Gangfeng Xu, Cell NeurogenomicsGenetic DisorderGeneticsPathologyMajor Segment	1990	1.1K
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus David Viskochil, Arthur M. Buchberg, Gangfeng Xu, Cell Genome InstabilityMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	1990	1.1K
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation Eric Legius, Ludwine Messiaen, P. Wolkenstein, Genetics in Medicine	2021	687
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, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGenetic EpidemiologyNf1 GenePathology	2006	360
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Genetics in Medicine	2022	247
Genomic organization of the neurofibromatosis 1 gene (NF1) Y Li, Peter O'Connell, Heidi Huntsman Breidenbach, Genomics FibrosisNeurofibromatosis 1NeuropathologyMedicineCell Biology	1995	232
Mutations in <i>FGFR1</i> and <i>FGFR2</i> cause familial and sporadic Pfeiffer syndrome Ute Schell, Andreas Hehr, George Feldman, Human Molecular Genetics	1995	232
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, Molecular Genetics and Metabolism Mucopolysaccharidosis TypeMedicineInternational HealthPathologyDiagnosis	2007	203
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1 Rui M. Costa, Tao Yang, Duong P. Huynh, Nature Genetics Knockout MouseDevelopmental BiologyNormal DevelopmentTumor PredispositionGenetics	2001	197

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