American Journal of Medical Genetics

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Journal’s research areas, covering key disciplines and specialized sub-topics in Medicine, designed to support cutting-edge academic discovery.

Most Cited Articles

The Most Cited Articles section features the journal's most impactful research, based on citation counts. These articles have been referenced frequently by other researchers, indicating their significant contribution to their respective fields.

• Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

  Citation: 1372

  Authors: Peter, Anne De, Beat, Petros, Richard J.

• Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

  Citation: 1274

  Authors: Claire L., Alan E., Elisabetta, Marie E., Robert H., Cornelius J.J., Anette D., Henri

• Revised diagnostic criteria for the Marfan syndrome

  Citation: 1100

  Authors: Anne, Richard B., Harry C., Raoul C. M., Reed E.

• Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

  Citation: 683

  Authors: V. E., A. M., B., M. L., R., J. J., A. E., S. J.

• Cockayne syndrome: Review of 140 cases

  Citation: 640

  Authors: Martha A., Susan A.

• Twin studies of schizophrenia: From bow-and-arrow concordances to Star Wars Mx and functional genomics

  Citation: 627

  Authors: Alastair G., Irving I.

• Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination

  Citation: 596

  Authors: Scott A., Biraju, Madhuri, Jennifer B., Ralph A., Brian P., Frank, Patrick J., Patrick, Piotr B., Rodney A., Ivan Jeanne, William T.

• Genome-wide search for genes affecting the risk for alcohol dependence

  Citation: 594

  Authors: Theodore, Howard J., Alison, Jeff T., John P., Paul, Tatiana, Victor, Marc A., Kathleen, Bernice, Ting-Kai, P. Michael, John I., Jay A., Raymond R., C. Robert, William, Shantia, Kristie, Candice, Chris, Henri

• International nosology of heritable disorders of connective tissue, Berlin, 1986

  Citation: 538

  Authors: P., A., D., G., T., R., J. G., D. W., W., V. A., J. M., F. M., R. E., D. L., D., J. W., E., P., D., I., I., James F.

• Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

  Citation: 483

  Authors: Jan N. Bouwes, David D., John M., James F.