American Journal of Medical Genetics, Part A

Aims & Scope

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 .

As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas: -Biochemical Genetics : newborn screening, carrier detection, and the metabolic dysplasia and malformation syndromes; -Cancer Genetics and Cancer Cytogenetics : experimental and molecular approaches; -Clinical Genetics : descriptions of new syndromes, new causal and pathogenetic insights into known syndromes, advances in genetic counseling, nosology, anthropometry, and anthropology, including dermatoglyphics; -Clinical Molecular Genetics : linkage, mapping, and gene sequencing; -Formal Genetics : quantitative, population, and epidemiological genetics; -Molecular Cytogenetics : delineation of syndromes due to chromosomal aberration; -Neuropsychiatric Genetics : reports on novel research on the genetic mechanisms underlying psychiatric and neurological disorders; -Reproductive Genetics : prenatal diagnosis and the genetics of prenatal and perinatal death in humans.

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	1.7
2024	1.70

Journal Rank

Year	Value
2024	7640

Journal Citation Indicator

Year	Value
2024	2481

SJR (SCImago Journal Rank)

Year	Value
2024	0.733

Quartile

Year	Value
2024	Q2

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Abstracting & Indexing

Journal is indexed in leading academic databases, ensuring global visibility and accessibility of our peer-reviewed research.

• Scopus
• Google Scholar
• Web of Science
• Medline
• Embase

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Subjects & Keywords

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

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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.

• Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service

  Citation: 790

  Authors: D.G., E., C., T., H., S.M., F.

• Endogenous hydrogen sulfide overproduction in Down syndrome

  Citation: 582

  Authors: Pierre, Maria‐Cristina, Allel, Karim, Bernadette

• Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

  Citation: 573

  Authors: F.S., D.O.

• Nosology and classification of genetic skeletal disorders: 2010 revision

  Citation: 546

  Authors: Matthew L., Valerie, Christine, Deborah, Ralph, Martine, Geert, Stefan, Gen, David L., Stephen, Ravi, David, Juergen, Sheila, Bernhard, Andrea

• Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

  Citation: 520

  Authors: Yanick J., Diana S., Johanna, Marcin, Gabriella M.A., Hannah L., Anthony, Beverley, Amy, Guy, Mohamed S., Ghada M., Sam, Alec, Guillermo, Catherine, Stavit, Montse, Giada, Vijay, Riyana, Eileen M., Nadia, Kathryn M., Christine, Magalie, Roberta, Michael W., Geneviève, Marika, Thierry, Edward M., Miriam, Alberto B., Maria, Daniel R., Manuel, Anna, Cristina, Kate E., David A., Abigail E., Concepcion, Nuno J.V., Giovanni, Lyvia, Russell C., Stefano, Christian G.E.L., Corinne, Liesbeth M.H., Ines, Isabelle, Koenraad, Maja, Michael C., Elisa, Colin D., António, Blanca, Cyril, Nirmala R., Kalpana, Donncha, Bertrand, Bülent, Nasaim, Mary D., Edwin P., Ram, Lieven, Pierre, Heinz, Vincent, Roberta La, Ming J., Jean‐Pierre S.‐M., Tarja, Mark T., Daphna R., Charles, Shane A., Isabella, Jenny E.V., Marie‐Laure, Kevin, Rima, Sheela, Noemi, Patrick J., Ivana, John R., Belén, Julie S., Venkateswaran, Magnhild, Luc, Federica, Marlène, Diana, Agathe, Elisabetta, Karin A., Gyanranjan P., Doriette, Ronen, Tommy I., Rachel, Kathryn J., Mohnish, Uta, Tiong Y., Johann, Keng, Maya, Marianne, Davide, Enza, Rudy, Marjo S., Grace, Raymon, Julie, Geoffrey B., Evangeline, Hannah J., William P., Robyn N., Maha S., Sameer M., John H., Flore, Pierre, Adeline, Simona, Gillian I.

• Nosology and classification of genetic skeletal disorders: 2019 revision

  Citation: 497

  Authors: Geert R., Daniel H., Valerie, Christine, Deborah, Stefan, Gen, Stephen, Luca, Ravi, David, Andrea, Sheila, Matthew L.

• Angelman syndrome 2005: Updated consensus for diagnostic criteria

  Citation: 489

  Authors: Charles A., Arthur L., Jill, Joan H., Martin, Laura A., R. Ellen, Ann, Albert A., Jane A., Joseph

• <i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

  Citation: 455

  Authors: Kim M., Jonathan J., Victoria E.R., Robert K., Marjorie J., Julie C., Ahmad, Marybeth, William, Leslie G.

• Hutchinson–Gilford progeria syndrome: Review of the phenotype

  Citation: 446

  Authors: Raoul C.M.

• Nosology and classification of genetic skeletal disorders: 2015 revision

  Citation: 441

  Authors: Luisa, Valerie, Christine, Ralph, Geert, Stefan, Gen, Luca, Ravi, David, Jürgen, Andrea, Matthew, Sheila

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