# American Journal of Medical Genetics Part A

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/

## Facts

| Field | Value |
| --- | --- |
| APC (USD) | 4,200 |
| Citations | 311,334 |
| h-index | 162 |
| Homepage | https://onlinelibrary.wiley.com/journal/15524833 |
| Open Access | false |
| ISSN-L | 1552-4825 |
| ISSNs | 1552-4825,1552-4833 |
| OpenAlex ID | https://openalex.org/S180901878 |
| Publisher | Wiley |
| Works | 13,243 |

## Journal papers

Showing 12 of 44.

- [Nosology and classification of genetic skeletal disorders: 2019 revision](https://scholariq.org/papers/nosology-and-classification-of-genetic-skeletal-disorders-2019-revision/)
- [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>](https://scholariq.org/papers/characterization-of-human-disease-phenotypes-associated-with-mutations-in-i/)
- [Nosology and classification of genetic skeletal disorders: 2015 revision](https://scholariq.org/papers/nosology-and-classification-of-genetic-skeletal-disorders-2015-revision/)
- [<i>SOX2</i> anophthalmia syndrome](https://scholariq.org/papers/i-sox2-i-anophthalmia-syndrome/)
- [Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients](https://scholariq.org/papers/agenesis-and-dysgenesis-of-the-corpus-callosum-clinical-genetic-and-neuroimaging/)
- [Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome](https://scholariq.org/papers/spectrum-of-i-mll2-i-i-alr-i-mutations-in-110-cases-of-kabuki-syndrome/)
- [<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome](https://scholariq.org/papers/i-mll2-i-and-i-kdm6a-i-mutations-in-patients-with-kabuki-syndrome/)
- [Diagnosis and management of heterokaryotypic monochorionic twins](https://scholariq.org/papers/diagnosis-and-management-of-heterokaryotypic-monochorionic-twins/)
- [Angelman syndrome: Mutations influence features in early childhood](https://scholariq.org/papers/angelman-syndrome-mutations-influence-features-in-early-childhood/)
- [Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A cross‐sectional cohort study](https://scholariq.org/papers/quality-of-life-and-psychological-distress-in-hypertrophic-cardiomyopathy/)
- [A double‐blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome](https://scholariq.org/papers/a-double-blind-randomized-controlled-trial-of-oxytocin-nasal-spray-in-prader/)
- [Rubinstein‐Taybi syndrome medical guidelines](https://scholariq.org/papers/rubinstein-taybi-syndrome-medical-guidelines/)

## Journal top topics

Showing 8 of 25.

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.