| Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service | 2010/01/15 | English | 570 |
| Endogenous hydrogen sulfide overproduction in Down syndrome | 2002/09/18 | English | 532 |
| Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment | 2014/04/08 | English | 436 |
| Nosology and classification of genetic skeletal disorders: 2010 revision | 2011/03/15 | English | 427 |
| Nosology and classification of genetic skeletal disorders: 2019 revision | 2019/10/21 | English | 390 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 | 2015/01/16 | English | 380 |
| Angelman syndrome 2005: Updated consensus for diagnostic criteria | 2006/02/13 | English | 366 |
| Nosology and classification of genetic skeletal disorders: 2015 revision | 2015/09/23 | English | 364 |
| Hutchinson–Gilford progeria syndrome: Review of the phenotype | 2006/07/12 | English | 348 |
| PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation | 2014/12/31 | English | 330 |
| Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey | 2008/06/20 | English | 305 |
| Clinical features of 78 adults with 22q11 deletion syndrome | 2005/10/05 | English | 298 |
| Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors | 2004/08/18 | English | 272 |
| Updated diagnostic criteria for CHARGE syndrome: A proposal | 2005/01/21 | English | 266 |
| The hedgehog signaling network | 2003/09/19 | English | 265 |
| Nutritional phases in Prader–Willi syndrome | 2011/04/04 | English | 262 |
| Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation | 2006/08/17 | English | 261 |
| Microtia: Epidemiology and genetics | 2011/11/21 | English | 258 |
| Epidemiology of fragile X syndrome: A systematic review and meta‐analysis | 2014/04/03 | English | 253 |
| Precision and error of three‐dimensional phenotypic measures acquired from 3dMD photogrammetric images | 2005/09/20 | English | 253 |
| Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b | 2003/09/23 | English | 246 |
| Head circumference and height in autism: A study by the collaborative program of excellence in autism | 2006/10/04 | English | 245 |
| Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP | 2006/05/12 | English | 234 |
| A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003 | 2008/03/14 | English | 228 |
| The genetic basis of tooth development and dental defects | 2006/07/12 | English | 222 |
| The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome) | 2009/10/28 | English | 219 |
| Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome | 2010/02/22 | English | 219 |
| Nosology and classification of genetic skeletal disorders: 2006 revision | 2006/12/21 | English | 214 |
| The MECP2 duplication syndrome | 2010/04/02 | English | 213 |
| Obesity: Genetic, molecular, and environmental aspects | 2007/11/28 | English | 210 |