| # | 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 | 753 |
| 2 | Nosology and classification of genetic skeletal disorders: 2010 revision | American Journal of Medical Genetics, Part A | 2011 | 581 |
| 3 | Endogenous hydrogen sulfide overproduction in Down syndrome | American Journal of Medical Genetics, Part A | 2003 | 569 |
| 4 | Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment | American Journal of Medical Genetics, Part A | 2014 | 559 |
| 5 | 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 | 481 |
| 6 | Hutchinson–Gilford progeria syndrome: Review of the phenotype | American Journal of Medical Genetics, Part A | 2006 | 465 |
| 7 | Nosology and classification of genetic skeletal disorders: 2015 revision | American Journal of Medical Genetics, Part A | 2015 | 464 |
| 8 | Nosology and classification of genetic skeletal disorders: 2019 revision | American Journal of Medical Genetics, Part A | 2019 | 457 |
| 9 | Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey | American Journal of Medical Genetics, Part A | 2008 | 399 |
| 10 | Clinical features of 78 adults with 22q11 deletion syndrome | American Journal of Medical Genetics, Part A | 2005 | 389 |
| 11 | The hedgehog signaling network | American Journal of Medical Genetics, Part A | 2003 | 381 |
| 12 | Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors | American Journal of Medical Genetics, Part A | 2004 | 364 |
| 13 | Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation | American Journal of Medical Genetics, Part A | 2006 | 347 |
| 14 | Nutritional phases in Prader–Willi syndrome | American Journal of Medical Genetics, Part A | 2011 | 344 |
| 15 | Microtia: Epidemiology and genetics | American Journal of Medical Genetics, Part A | 2012 | 340 |
| 16 | Updated diagnostic criteria for CHARGE syndrome: A proposal | American Journal of Medical Genetics, Part A | 2005 | 333 |
| 17 | Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP | American Journal of Medical Genetics, Part A | 2006 | 331 |
| 18 | Epidemiology of fragile X syndrome: A systematic review and meta‐analysis | American Journal of Medical Genetics, Part A | 2014 | 331 |
| 19 | Head circumference and height in autism: A study by the collaborative program of excellence in autism | American Journal of Medical Genetics, Part A | 2006 | 321 |
| 20 | Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images | American Journal of Medical Genetics, Part A | 2005 | 319 |
| 21 | Nosology and classification of genetic skeletal disorders: 2006 revision | American Journal of Medical Genetics, Part A | 2007 | 302 |
| 22 | A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003 | American Journal of Medical Genetics, Part A | 2008 | 294 |
| 23 | Expanded clinical phenotype of women with the FMR1 premutation | American Journal of Medical Genetics, Part A | 2008 | 292 |
| 24 | The genetic basis of tooth development and dental defects | American Journal of Medical Genetics, Part A | 2006 | 287 |
| 25 | The MECP2 duplication syndrome | American Journal of Medical Genetics, Part A | 2010 | 278 |
| 26 | The burden of rare diseases | American Journal of Medical Genetics, Part A | 2019 | 278 |
| 27 | Obesity: Genetic, molecular, and environmental aspects | American Journal of Medical Genetics, Part A | 2007 | 272 |
| 28 | Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome | American Journal of Medical Genetics, Part A | 2010 | 272 |
| 29 | A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications | American Journal of Medical Genetics, Part A | 2006 | 262 |
| 30 | The new bone biology: Pathologic, molecular, and clinical correlates | American Journal of Medical Genetics, Part A | 2006 | 259 |
| 31 | Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum | American Journal of Medical Genetics, Part A | 2014 | 257 |
| 32 | 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 | 256 |
| 33 | 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 | 254 |
| 34 | “Everybody in the world is my friend” hypersociability in young children with Williams syndrome | American Journal of Medical Genetics, Part A | 2004 | 252 |
| 35 | The 11q terminal deletion disorder: A prospective study of 110 cases | American Journal of Medical Genetics, Part A | 2004 | 252 |
| 36 | Mechanisms of imprinting of the Prader–Willi/Angelman region | American Journal of Medical Genetics, Part A | 2008 | 251 |
| 37 | X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update | American Journal of Medical Genetics, Part A | 2004 | 246 |
| 38 | Cranial neural crest cells on the move: Their roles in craniofacial development | American Journal of Medical Genetics, Part A | 2011 | 242 |
| 39 | Detection of low‐level mosaicism by array CGH in routine diagnostic specimens | American Journal of Medical Genetics, Part A | 2006 | 237 |
| 40 | Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: A population‐based Swedish cohort study | American Journal of Medical Genetics, Part A | 2004 | 230 |
| 41 | Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance | American Journal of Medical Genetics, Part A | 2007 | 227 |
| 42 | De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction | American Journal of Medical Genetics, Part A | 2010 | 225 |
| 43 | Newborn and carrier screening for spinal muscular atrophy | American Journal of Medical Genetics, Part A | 2010 | 223 |
| 44 | First report of prevalence of non-syndromic hereditary prosopagnosia (HPA) | American Journal of Medical Genetics, Part A | 2006 | 221 |
| 45 | Essential versus complex autism: Definition of fundamental prognostic subtypes | American Journal of Medical Genetics, Part A | 2005 | 210 |
| 46 | A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 | American Journal of Medical Genetics, Part A | 2006 | 208 |
| 47 | 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 | 207 |
| 48 | An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study | American Journal of Medical Genetics, Part A | 2005 | 205 |
| 49 | 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 | 205 |
| 50 | 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 | 203 |
