Arthur S. Aylsworth - Concepedia

Author

Arthur S. Aylsworth

University of North Carolina at Chapel Hill

Also Known As

A Aylsworth, A S Aylsworth, A. Aylsworth, A. S. Aylsworth, A.S. Aylsworth, ARTHUR S. AYLSWORTH, Arthur Aylsworth, Arthur S Aylsworth, Arthur S. Aylsworth, Arthur S. Aylsworth

154

Publications

9.3K

Citations

H-Index

151

Concepts

All Affiliations

University of North Carolina at Chapel Hill Pediatrics and Genetics Duke Medical Center Duke University Johns Hopkins University

About

Arthur S. Aylsworth is an author at University of North Carolina at Chapel Hill specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	33	48	5.4K
2	Public Health	8	8	521
3	Social Sciences	5	5	675
4	Education	3	3	254
5	Health Sciences	2	2	206

Arthur S. Aylsworth

Publications

8.2K

Citations

H-Index

Page 1

	Year	Citations
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson, Nature Genetics Developmental AnomalyPopliteal Pterygium SyndromesMendelian DisorderGenetic DisorderGenetics	2002	891
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
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia Gary A. Bellus, Iain McIntosh, Elizabeth A. Smith, Nature Genetics Recurrent MutationSignal TransductionBone Morphogenic ProteinReceptor Tyrosine KinaseCauses Hypochondroplasia	1995	475
X-linked situs abnormalities result from mutations in ZIC3 Marinella Gebbia, Giovanni Battista Ferrero, Giuseppe Pilia, Nature Genetics Somatic VariantGenetic DisorderMedicineGeneticsX-linked Situs Abnormalities	1997	416
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban, Proceedings of the National Academy of Sciences Down SyndromeSevere Mental RetardationDevelopmental BiologyMendelian DisorderGenetic Disorder	2009	393
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius, Cell NeuroregenerationDevelopmental BiologyPeripheral NervesGeneticsGenetic Linkage	1987	370
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Epidemiology	2005	276
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyPathology	2014	214
Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study Robert E. Meyer, Gang Liu, Suzanne M. Gilboa, American Journal of Medical Genetics Part A	2015	205
Genetic Studies of Autistic Disorder and Chromosome 7 Allison E. Ashley‐Koch, Chantelle M. Wolpert, Marisa M. Menold, Genomics Genetic DisorderSyndromic AutismGeneticsChromosome 7Autism	1999	196

Page 1