| # | Title | Journal | Year | Citations |
|---|
| 1 | Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service | American Journal of Medical Genetics, Part A | 2010 | 721 |
| 2 | Nosology and classification of genetic skeletal disorders: 2010 revision | American Journal of Medical Genetics, Part A | 2011 | 573 |
| 3 | Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment | American Journal of Medical Genetics, Part A | 2014 | 524 |
| 4 | Angelman syndrome 2005: Updated consensus for diagnostic criteria | American Journal of Medical Genetics, Part A | 2006 | 493 |
| 5 | Hutchinson–Gilford progeria syndrome: Review of the phenotype | American Journal of Medical Genetics, Part A | 2006 | 453 |
| 6 | Nosology and classification of genetic skeletal disorders: 2015 revision | American Journal of Medical Genetics, Part A | 2015 | 453 |
| 7 | Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 | American Journal of Medical Genetics, Part A | 2015 | 447 |
| 8 | Nosology and classification of genetic skeletal disorders: 2019 revision | American Journal of Medical Genetics, Part A | 2019 | 431 |
| 9 | PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation | American Journal of Medical Genetics, Part A | 2015 | 399 |
| 10 | Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey | American Journal of Medical Genetics, Part A | 2008 | 390 |
| 11 | Clinical features of 78 adults with 22q11 deletion syndrome | American Journal of Medical Genetics, Part A | 2005 | 381 |
| 12 | Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation | American Journal of Medical Genetics, Part A | 2006 | 343 |
| 13 | Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP | American Journal of Medical Genetics, Part A | 2006 | 331 |
| 14 | Updated diagnostic criteria for CHARGE syndrome: A proposal | American Journal of Medical Genetics, Part A | 2005 | 328 |
| 15 | Nutritional phases in Prader–Willi syndrome | American Journal of Medical Genetics, Part A | 2011 | 325 |
| 16 | Microtia: Epidemiology and genetics | American Journal of Medical Genetics, Part A | 2012 | 323 |
| 17 | Epidemiology of fragile X syndrome: A systematic review and meta‐analysis | American Journal of Medical Genetics, Part A | 2014 | 320 |
| 18 | Head circumference and height in autism: A study by the collaborative program of excellence in autism | American Journal of Medical Genetics, Part A | 2006 | 313 |
| 19 | Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images | American Journal of Medical Genetics, Part A | 2005 | 310 |
| 20 | Nosology and classification of genetic skeletal disorders: 2006 revision | American Journal of Medical Genetics, Part A | 2007 | 301 |
| 21 | Expanded clinical phenotype of women with the FMR1 premutation | American Journal of Medical Genetics, Part A | 2008 | 290 |
| 22 | The genetic basis of tooth development and dental defects | American Journal of Medical Genetics, Part A | 2006 | 282 |
| 23 | A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003 | American Journal of Medical Genetics, Part A | 2008 | 278 |
| 24 | Obesity: Genetic, molecular, and environmental aspects | American Journal of Medical Genetics, Part A | 2007 | 270 |
| 25 | The MECP2 duplication syndrome | American Journal of Medical Genetics, Part A | 2010 | 268 |
| 26 | Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome | American Journal of Medical Genetics, Part A | 2010 | 265 |
| 27 | A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications | American Journal of Medical Genetics, Part A | 2006 | 258 |
| 28 | The new bone biology: Pathologic, molecular, and clinical correlates | American Journal of Medical Genetics, Part A | 2006 | 257 |
| 29 | The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome) | American Journal of Medical Genetics, Part A | 2009 | 253 |
| 30 | The burden of rare diseases | American Journal of Medical Genetics, Part A | 2019 | 250 |
| 31 | Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study | American Journal of Medical Genetics, Part A | 2005 | 249 |
| 32 | Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum | American Journal of Medical Genetics, Part A | 2014 | 249 |
| 33 | Mechanisms of imprinting of the Prader–Willi/Angelman region | American Journal of Medical Genetics, Part A | 2008 | 246 |
| 34 | Detection of low-level mosaicism by array CGH in routine diagnostic specimens | American Journal of Medical Genetics, Part A | 2006 | 236 |
| 35 | Cranial neural crest cells on the move: Their roles in craniofacial development | American Journal of Medical Genetics, Part A | 2011 | 232 |
| 36 | Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance | American Journal of Medical Genetics, Part A | 2007 | 223 |
| 37 | Newborn and carrier screening for spinal muscular atrophy | American Journal of Medical Genetics, Part A | 2010 | 217 |
| 38 | De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction | American Journal of Medical Genetics, Part A | 2010 | 217 |
| 39 | Essential versus complex autism: Definition of fundamental prognostic subtypes | American Journal of Medical Genetics, Part A | 2005 | 209 |
| 40 | First report of prevalence of non-syndromic hereditary prosopagnosia (HPA) | American Journal of Medical Genetics, Part A | 2006 | 208 |
| 41 | A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 | American Journal of Medical Genetics, Part A | 2006 | 205 |
| 42 | Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) | American Journal of Medical Genetics, Part A | 2011 | 203 |
| 43 | Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients | American Journal of Medical Genetics, Part A | 2007 | 201 |
| 44 | An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study | American Journal of Medical Genetics, Part A | 2005 | 200 |
| 45 | Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology | American Journal of Medical Genetics, Part A | 2017 | 200 |
| 46 | Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability | American Journal of Medical Genetics, Part A | 2005 | 198 |
| 47 | Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome | American Journal of Medical Genetics, Part A | 2005 | 197 |
| 48 | SOX2anophthalmia syndrome | American Journal of Medical Genetics, Part A | 2005 | 194 |
| 49 | Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States | American Journal of Medical Genetics, Part A | 2015 | 191 |
| 50 | Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations | American Journal of Medical Genetics, Part A | 2006 | 188 |
