Journal list menu
Edited By: Anne Slavotinek and Benjamin D. Solomon
About This Journal
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A, AJMG also publishes two other parts:
- Part B: Neuropsychiatric Genetics, covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
- Part C: Seminars in Medical Genetics, guest-edited collections of thematic reviews of topical interest to the readership of AJMG.
Read the full Aims and Scope here.
Articles
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder
-  9 August 2021
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation
-  6 August 2021
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
-  6 August 2021
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
-  5 August 2021
Expanding the KIF4A‐associated phenotype
-  3 August 2021
The following is a list of the most cited articles based on citations published in the last three years, according to CrossRef.
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu‐Osler‐Weber syndrome)
-  66-67
-  17 March 2000
Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997
-  31-37
-  6 January 1999
Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service
-  327-332
-  15 January 2010
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
-  1470-1481
-  8 April 2014
Nosology and classification of genetic skeletal disorders: 2015 revision
-  2869-2892
-  23 September 2015















