2.5(top 7%)
Impact Factor
2.8(top 7%)
extended IF
108(top 3%)
H-Index
4K
authors
8.3K
papers
139.4K
citations
4.5K
citing journals
36.4K
citing authors

Most Cited Articles of American Journal of Medical Genetics, Part A

TitleYearCitations
Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service2010506
Nosology and classification of genetic skeletal disorders: 2010 revision2011486
Angelman syndrome 2005: updated consensus for diagnostic criteria2006388
Nosology and classification of genetic skeletal disorders: 2015 revision2015380
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment2014374
Hutchinson-Gilford progeria syndrome: review of the phenotype2006357
Clinical features of 78 adults with 22q11 Deletion Syndrome2005339
Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey2008331
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH12015321
Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP2006290
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation2006281
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation2015275
Updated diagnostic criteria for CHARGE syndrome: a proposal2005271
Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism2006262
Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images2005253
Expanded clinical phenotype of women with the FMR1 premutation2008252
Nosology and classification of genetic skeletal disorders: 2006 revision2007251
Nutritional phases in Prader-Willi syndrome2011235
The genetic basis of tooth development and dental defects2006227
The new bone biology: pathologic, molecular, and clinical correlates2006226
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)2009220
Obesity: genetic, molecular, and environmental aspects2007219
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome2010218
Detection of low-level mosaicism by array CGH in routine diagnostic specimens2006218
Nosology and classification of genetic skeletal disorders: 2019 revision2019216