2.0(top 20%)
impact factor
6.4K(top 5%)
papers
192.7K(top 2%)
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129(top 5%)
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3.0(top 20%)
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11.2K
all documents
208.3K
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185(top 5%)
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Top Articles

#TitleJournalYearCitations
1Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register serviceAmerican Journal of Medical Genetics, Part A2010753
2Nosology and classification of genetic skeletal disorders: 2010 revisionAmerican Journal of Medical Genetics, Part A2011581
3Endogenous hydrogen sulfide overproduction in Down syndromeAmerican Journal of Medical Genetics, Part A2003569
4Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessmentAmerican Journal of Medical Genetics, Part A2014559
5Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1American Journal of Medical Genetics, Part A2015481
6Hutchinson–Gilford progeria syndrome: Review of the phenotypeAmerican Journal of Medical Genetics, Part A2006465
7Nosology and classification of genetic skeletal disorders: 2015 revisionAmerican Journal of Medical Genetics, Part A2015464
8Nosology and classification of genetic skeletal disorders: 2019 revisionAmerican Journal of Medical Genetics, Part A2019457
9Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent surveyAmerican Journal of Medical Genetics, Part A2008399
10Clinical features of 78 adults with 22q11 deletion syndromeAmerican Journal of Medical Genetics, Part A2005389
11The hedgehog signaling networkAmerican Journal of Medical Genetics, Part A2003381
12Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviorsAmerican Journal of Medical Genetics, Part A2004364
13Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardationAmerican Journal of Medical Genetics, Part A2006347
14Nutritional phases in Prader–Willi syndromeAmerican Journal of Medical Genetics, Part A2011344
15Microtia: Epidemiology and geneticsAmerican Journal of Medical Genetics, Part A2012340
16Updated diagnostic criteria for CHARGE syndrome: A proposalAmerican Journal of Medical Genetics, Part A2005333
17Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRPAmerican Journal of Medical Genetics, Part A2006331
18Epidemiology of fragile X syndrome: A systematic review and meta‐analysisAmerican Journal of Medical Genetics, Part A2014331
19Head circumference and height in autism: A study by the collaborative program of excellence in autismAmerican Journal of Medical Genetics, Part A2006321
20Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric imagesAmerican Journal of Medical Genetics, Part A2005319
21Nosology and classification of genetic skeletal disorders: 2006 revisionAmerican Journal of Medical Genetics, Part A2007302
22A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003American Journal of Medical Genetics, Part A2008294
23Expanded clinical phenotype of women with the FMR1 premutationAmerican Journal of Medical Genetics, Part A2008292
24The genetic basis of tooth development and dental defectsAmerican Journal of Medical Genetics, Part A2006287
25The MECP2 duplication syndromeAmerican Journal of Medical Genetics, Part A2010278
26The burden of rare diseasesAmerican Journal of Medical Genetics, Part A2019278
27Obesity: Genetic, molecular, and environmental aspectsAmerican Journal of Medical Genetics, Part A2007272
28Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndromeAmerican Journal of Medical Genetics, Part A2010272
29A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complicationsAmerican Journal of Medical Genetics, Part A2006262
30The new bone biology: Pathologic, molecular, and clinical correlatesAmerican Journal of Medical Genetics, Part A2006259
31Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrumAmerican Journal of Medical Genetics, Part A2014257
32Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort studyAmerican Journal of Medical Genetics, Part A2005256
33The 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 A2009254
34“Everybody in the world is my friend” hypersociability in young children with Williams syndromeAmerican Journal of Medical Genetics, Part A2004252
35The 11q terminal deletion disorder: A prospective study of 110 casesAmerican Journal of Medical Genetics, Part A2004252
36Mechanisms of imprinting of the Prader–Willi/Angelman regionAmerican Journal of Medical Genetics, Part A2008251
37X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An updateAmerican Journal of Medical Genetics, Part A2004246
38Cranial neural crest cells on the move: Their roles in craniofacial developmentAmerican Journal of Medical Genetics, Part A2011242
39Detection of low‐level mosaicism by array CGH in routine diagnostic specimensAmerican Journal of Medical Genetics, Part A2006237
40Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: A population‐based Swedish cohort studyAmerican Journal of Medical Genetics, Part A2004230
41Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidanceAmerican Journal of Medical Genetics, Part A2007227
42De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunctionAmerican Journal of Medical Genetics, Part A2010225
43Newborn and carrier screening for spinal muscular atrophyAmerican Journal of Medical Genetics, Part A2010223
44First report of prevalence of non-syndromic hereditary prosopagnosia (HPA)American Journal of Medical Genetics, Part A2006221
45Essential versus complex autism: Definition of fundamental prognostic subtypesAmerican Journal of Medical Genetics, Part A2005210
46A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7American Journal of Medical Genetics, Part A2006208
47Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and HematologyAmerican Journal of Medical Genetics, Part A2017207
48An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian studyAmerican Journal of Medical Genetics, Part A2005205
49Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patientsAmerican Journal of Medical Genetics, Part A2007205
50Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United StatesAmerican Journal of Medical Genetics, Part A2015203