Journal of Medical Genetics (JMG)
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Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide. Source
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| Scope | International |
|---|---|
| Language | English |
| Country | United Kingdom |
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Time to first decision with review: 52 days* Impact Factor rank (JCR): 51/191
Journal of Medical Genetics
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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
Genomics Human Genetics Genetic Counseling Genetics, Behavioral WHAT IS ALREADY KNOWN ON THIS TOPIC The clinical utility of genome sequencing in autism spectrum disorder (ASD) is documented, but the uptake and perceived benefit is sometimes questioned due to a lack of examples of impact. WHAT THIS STUDY ADDS One hundred real-life examples of the downstream impact of receiving a genetic result from genome sequencing based on the gene involved in ASD.
Limitations of genomics to predict and treat autism: a disorder born in the womb
Concluding remarks and future perspectives Our review leads us to propose a therapeutic strategy (figure 3).
Canadian consensus for the assessment and testing of Lynch syndrome
Canadian consensus for the assessment and testing of Lynch syndrome Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Whole-exome sequencing reveals sex difference in the genetic architecture of high myopia
Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways. View Full Text Read the full text or download the PDF:
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer
Discussion Overall, findings indicate that for mainstreamed BRCA testing of patients with BC, provision of a TH alongside a digital pathway with standardised pretest information is feasible, given the modest clinical time required for addressing calls. Requirement for GN/C support was found to be limited prior to BRCA testing consent, with an increase in total time observed downstream for calls from patients who had received their results.
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
Abstract Background Inherited rare skeletal muscle diseases cause muscle weakness and wasting of variable severity. Without a molecular diagnosis, patients often endure prolonged diagnostic journeys, leading to delays in appropriate management of the disease. This occurs in approximately 60% of patients with rare diseases.
Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death
Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways. View Full Text Read the full text or download the PDF: Read the full text or download the PDF:
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service
Discussion This study uses real-world data to provide some evidence of the impact of full implementation of NICE Guideline NG241 in a regional genetics service with a population of approximately 3.8 million, and to put this into context against the other competing referrals for genetic testing within the resource-limited NHS and GMS. The authors recognise the limitations of the data. The patient cohort is historical and before publication of NG241.