| The burden of rare diseases | 2019/03/18 | English | 204 |
| Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum | 2014/04/29 | English | 200 |
| Expanded clinical phenotype of women with the FMR1 premutation | 2008/03/17 | English | 193 |
| Detection of low‐level mosaicism by array CGH in routine diagnostic specimens | 2006/11/13 | English | 189 |
| A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications | 2006/04/14 | English | 189 |
| Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study | 2005/01/01 | English | 188 |
| The new bone biology: Pathologic, molecular, and clinical correlates | 2006/11/13 | English | 187 |
| The 11q terminal deletion disorder: A prospective study of 110 cases | 2004/07/15 | English | 185 |
| Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance | 2007/05/16 | English | 185 |
| X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update | 2004/01/27 | English | 185 |
| Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: A population‐based Swedish cohort study | 2004/09/21 | English | 181 |
| “Everybody in the world is my friend” hypersociability in young children with Williams syndrome | 2003/08/13 | English | 181 |
| Cranial neural crest cells on the move: Their roles in craniofacial development | 2010/12/10 | English | 177 |
| Newborn and carrier screening for spinal muscular atrophy | 2010/05/07 | English | 173 |
| De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction | 2010/08/23 | English | 171 |
| Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology | 2017/02/07 | English | 171 |
| Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients | 2002/10/02 | English | 165 |
| Mechanisms of imprinting of the Prader–Willi/Angelman region | 2008/07/14 | English | 165 |
| First report of prevalence of non‐syndromic hereditary prosopagnosia (HPA) | 2006/06/30 | English | 163 |
| Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome | 2005/05/05 | English | 161 |
| Multisystem study of 20 older adults with Williams syndrome | 2004/11/08 | English | 156 |
| An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study | 2005/01/06 | English | 156 |
| Incidence of the mucopolysaccharidoses in Western Australia | 2003/06/03 | English | 153 |
| 3D analysis of facial morphology | 2004/04/14 | English | 151 |
| Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States | 2015/03/29 | English | 149 |
| Lipedema: An inherited condition | 2010/03/26 | English | 147 |
| Agenesis of the corpus callosum in California 1983–2003: A population‐based study | 2008/07/18 | English | 147 |
| Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) | 2011/08/10 | English | 146 |
| The phenotypic spectrum of congenital Zika syndrome | 2017/03/22 | English | 145 |
| Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes | 2003/08/07 | English | 144 |