# Genetics in Medicine

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/genetics-in-medicine/

## Facts

| Field | Value |
| --- | --- |
| Open Access | false |
| ISSN-L | 1098-3600 |
| ISSNs | 1098-3600,1530-0366 |
| OpenAlex ID | https://openalex.org/S187186932 |
| Publisher | Elsevier BV |

## Journal papers

Showing 12 of 35.

- [Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation](https://scholariq.org/papers/revised-diagnostic-criteria-for-neurofibromatosis-type-1-and-legius-syndrome-an/)
- [BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors](https://scholariq.org/papers/boadicea-a-comprehensive-breast-cancer-risk-prediction-model-incorporating/)
- [Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database](https://scholariq.org/papers/cancer-risks-by-gene-age-and-gender-in-6350-carriers-of-pathogenic-mismatch/)
- [Loeys–Dietz syndrome: a primer for diagnosis and management](https://scholariq.org/papers/loeys-dietz-syndrome-a-primer-for-diagnosis-and-management/)
- [Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions](https://scholariq.org/papers/enhanced-utility-of-family-centered-diagnostic-exome-sequencing-with-inheritance/)
- [The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing](https://scholariq.org/papers/the-landscape-of-genetic-variation-in-dilated-cardiomyopathy-as-surveyed-by/)
- [Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy](https://scholariq.org/papers/diagnostic-exome-sequencing-provides-a-molecular-diagnosis-for-a-significant/)
- [Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project](https://scholariq.org/papers/clinical-validation-of-cutoff-target-ranges-in-newborn-screening-of-metabolic/)
- [Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease](https://scholariq.org/papers/clinical-outcomes-after-long-term-treatment-with-alglucosidase-alfa-in-infants/)
- [American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss](https://scholariq.org/papers/american-college-of-medical-genetics-and-genomics-guideline-for-the-clinical/)
- [Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males](https://scholariq.org/papers/increased-mecp2-gene-copy-number-as-the-result-of-genomic-duplication-in/)
- [POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance](https://scholariq.org/papers/pole-and-pold1-mutations-in-529-kindred-with-familial-colorectal-cancer-and-or/)

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