
Academic Journal
Q2American Journal of Medical Genetics, Part A
About American Journal of Medical Genetics, Part A
American Journal of Medical Genetics, Part A is a scholarly journal published by John Wiley and Sons Inc. SCImago 2025 lists it in Q2, with an SJR of 0.731 and H-index of 141.
Coverage: 1996-1999, 2001-2026. Research categories: Genetics (Q2); Genetics (clinical) (Q3).
Verified field sources
- Editor(s): Anne Slavotinek and Benjamin D. Solomon (Editor) — Official source; checked 2026-10-03. Editorial leadership listed under Edited By on the Wiley journal homepage; publisher role retained without assuming Editor-in-Chief.
- Journal Impact Factor: 1.7 — Official source; checked 2026-10-03. Journal Impact Factor and reporting year from Wiley Journal Metrics, distinct from CiteScore and Journal Citation Indicator.
- Impact Factor year: 2025 — Official source; checked 2026-10-03. Journal Impact Factor and reporting year from Wiley Journal Metrics, distinct from CiteScore and Journal Citation Indicator.
Source-backed journal facts
Topics in published research
Genomic variations and chromosomal abnormalities; Genetics and Neurodevelopmental Disorders; Prenatal Screening and Diagnostics; Genomics and Rare Diseases; Congenital heart defects research; Connective tissue disorders research.
OpenAlex classifies topics from published works. These topics are not the publisher’s official aims and scope.
Reported open-access list prices
4,710.00 USD; 3,920.00 EUR; 3,150.00 GBP
APC list prices reported by OpenAlex, which obtains this information from DOAJ. Confirm current charges, taxes, waivers and eligibility with the publisher; this is not a fee quotation.
Source: OpenAlex source record. Retrieved 2026-10-03. Source record updated 2026-10-02. OpenAlex metrics are different from SCImago metrics and the Clarivate Journal Impact Factor.
Journal Metrics
Quartile, SJR and the listed SCImago H-index use the 2025 imported SCImago dataset. A quartile may vary by subject category. Values without a source or reporting year are unverified historical entries. Verify the current Journal Impact Factor with Clarivate or the publisher before using it.
Aims & Scope
The publisher’s official aims and scope have not yet been verified for this profile. Use the journal website to check subject fit and accepted article types before submitting.
Recent Research Articles
Latest publications matched automatically by ISSN.
Computer‐Aided Facial Analysis and Non‐Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study
Daniela Böhme, Víctor Faundes, María Cecilia Poli, Boris Rebolledo‐Jaramillo et al.
2026-10-01 · DOI: 10.1002/ajmg.a.70320Correction to “De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2 : Support for a Haploinsufficiency Model”
2026-09-29 · DOI: 10.1002/ajmg.a.70311Differential Diagnosis of Mucopolysaccharidoses Types I, II , III , IVA , and VI Through Analysis of Leukocytic Inclusions
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro et al.
2026-09-27 · DOI: 10.1002/ajmg.a.70316Guillouet‐Gordon Syndrome With Severe Microtia in an Infant With a Homozygous Variant in MED16
Sarah E. Seese, Linda M. Reis, Allison Genchanok, Hannah Brodner et al.
2026-09-25 · DOI: 10.1002/ajmg.a.70315A Systematic Review of Positron Emission Tomography ( PET ) in X‐Linked Adrenoleukodystrophy: Beyond Structural MRI
Yutaka Furuta, Hong Li, Stephanie R. Keller, John A. Phillips et al.
2026-09-25 · DOI: 10.1002/ajmg.a.70313A MORC2 Variant Associated With Severe Intellectual Disability and Unusual Phenotype
Harry Wilton‐Clark, Kati Kämpjärvi, Oksana Suchowersky, Shailly Jain‐Ghai et al.
2026-09-24 · DOI: 10.1002/ajmg.a.70307Syndromic Hirschsprung Disease With a Novel De Novo Sense Exonic SVA Insertion of TCF20
Briana O'Leary, Aditya Ramanujan, Aria Belle, Nina B. Gold et al.
2026-09-24 · DOI: 10.1002/ajmg.a.70306Acute Healthcare Utilization During the First Year After Hospital Discharge in Children With Trisomy 18
Aika Matsushima, Sota Iwatani, Satoshi Matsui, Seiji Yoshimoto et al.
2026-09-20 · DOI: 10.1002/ajmg.a.70309First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner et al.
2026-09-18 · DOI: 10.1002/ajmg.a.70305ADNP ‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy et al.
2026-09-17 · DOI: 10.1002/ajmg.a.70288Moebius‐Plus Phenotype With Positive RCEM Episignature May Indicate Broader Embryologic Malformation Spectrum Detectable by Methylation Profiling
Hannah Peck, Laura A. Krueger, Ethan D. Sperry, Ryan Monsberger et al.
2026-09-17 · DOI: 10.1002/ajmg.a.70300L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel et al.
2026-09-17 · DOI: 10.1002/ajmg.a.70299Mechanisms of Aging in Phenylketonuria ( PKU )
John Bassett, Neve Cufflin, Iain Hargreaves, Chris Murgatroyd et al.
2026-09-15 · DOI: 10.1002/ajmg.a.70301Expansion of the Clinical and Molecular Spectrum of LINS1 ‐Associated Disease
Ayman Y. Ibrahim, Erika Levine, Ayuko Iverson, Sangeeta Sharma et al.
2026-09-13 · DOI: 10.1002/ajmg.a.70304Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G ( p.Asp1758Gly ), in CHARGE Syndrome
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda et al.
2026-09-13 · DOI: 10.1002/ajmg.a.70302Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni et al.
2026-09-11 · DOI: 10.1002/ajmg.a.70233Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar
2026-09-08 · DOI: 10.1002/ajmg.a.70303The Importance of Familial Co‐segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease
Alice Porto Vasconcelos, Liliana Rocha, Susana Fernandes, João Paulo Oliveira et al.
2026-09-06 · DOI: 10.1002/ajmg.a.70298Table of Contents, Volume 200A, Number 10, October 2026
2026-10 · DOI: 10.1002/ajmg.a.70292Reviews
Community Reviews
Version History
October 4, 2026 at 9:07 pm
October 2, 2026