Health Supervision for Children With Neurofibromatosis Type 1David T. Miller, Joan M. Stoler, Debra Freedenberg et al.|PEDIATRICS|2019Cited by 231
Health Care Supervision for Children With Williams SyndromeColleen A. Morris, Joan M. Stoler, Stephen R. Braddock et al.|PEDIATRICS|2020Cited by 205
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry RegistryAlberto Ortíz, David G. Warnock, Stephen Waldek et al.|Journal of Medical Genetics|2016Cited by 147
Health Supervision for People With AchondroplasiaJulie Hoover‐Fong, Joan M. Stoler, Charles I. Scott et al.|PEDIATRICS|2020Cited by 115
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Tommaso Pippucci, Daphne J. Smits et al.|The American Journal of Human Genetics|2019Cited by 85