Arthur S. Aylsworth

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 891 citations · Full text

Developmental Anomaly, Popliteal Pterygium Syndromes, Mendelian Disorder +6

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

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Gary A. Bellus, Iain McIntosh, Elizabeth A. Smith et al. · Nature Genetics · 1995 · 475 citations

Recurrent Mutation, Signal Transduction, Bone Morphogenic Protein +8

X-linked situs abnormalities result from mutations in ZIC3

Marinella Gebbia, Giovanni Battista Ferrero, Giuseppe Pilia et al. · Nature Genetics · 1997 · 416 citations

Somatic Variant, Genetic Disorder, Medicine +4

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 et al. · Proceedings of the National Academy of Sciences · 2009 · 393 citations · Full text

Down Syndrome, Severe Mental Retardation, Developmental Biology +14