# | 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 |