jmg.bmj.com

• charset: utf-8 head:
• name: viewport content: width=device-width head:
• property: robots content: index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1 head:
• property: og:locale content: en_US head:
• property: og:type content: article head:
• property: og:title content: Homepage | Journal of Medical Genetics head:
• property: og:description content: A human genetics journal publishing original research, reviews and opinions on the latest developments. Articles cover the molecular basis of human disease. head:
• name: description content: A human genetics journal publishing original research, reviews and opinions on the latest developments. Articles cover the molecular basis of human disease. head:
• property: og:url content: https://jmg.bmj.com head:
• property: og:site_name content: Journal of Medical Genetics head:
• property: og:image content: https://jmg.bmj.com/jmg/wp-content/uploads/sites/40/2023/01/94bm3OnO_400x400.jpeg head:
• property: og:image:width content: 298 head:
• property: og:image:height content: 298 head:
• property: twitter:image content: https://jmg.bmj.com/jmg/wp-content/uploads/sites/40/2023/01/94bm3OnO_400x400.jpeg head:
• property: article:modified_time content: 2026-01-21T11:45:12+00:00 head:
• property: twitter:card content: summary_large_image head:
• equiv: origin-trial content: AlK2UR5SkAlj8jjdEc9p3F3xuFYlF6LYjAML3EOqw1g26eCwWPjdmecULvBH5MVPoqKYrOfPhYVL71xAXI1IBQoAAAB8eyJvcmlnaW4iOiJodHRwczovL2RvdWJsZWNsaWNrLm5ldDo0NDMiLCJmZWF0dXJlIjoiV2ViVmlld1hSZXF1ZXN0ZWRXaXRoRGVwcmVjYXRpb24iLCJleHBpcnkiOjE3NTgwNjcxOTksImlzU3ViZG9tYWluIjp0cnVlfQ==
• equiv: origin-trial content: Amm8/NmvvQfhwCib6I7ZsmUxiSCfOxWxHayJwyU1r3gRIItzr7bNQid6O8ZYaE1GSQTa69WwhPC9flq/oYkRBwsAAACCeyJvcmlnaW4iOiJodHRwczovL2dvb2dsZXN5bmRpY2F0aW9uLmNvbTo0NDMiLCJmZWF0dXJlIjoiV2ViVmlld1hSZXF1ZXN0ZWRXaXRoRGVwcmVjYXRpb24iLCJleHBpcnkiOjE3NTgwNjcxOTksImlzU3ViZG9tYWluIjp0cnVlfQ==
• equiv: origin-trial content: A9nrunKdU5m96PSN1XsSGr3qOP0lvPFUB2AiAylCDlN5DTl17uDFkpQuHj1AFtgWLxpLaiBZuhrtb2WOu7ofHwEAAACKeyJvcmlnaW4iOiJodHRwczovL2RvdWJsZWNsaWNrLm5ldDo0NDMiLCJmZWF0dXJlIjoiQUlQcm9tcHRBUElNdWx0aW1vZGFsSW5wdXQiLCJleHBpcnkiOjE3NzQzMTA0MDAsImlzU3ViZG9tYWluIjp0cnVlLCJpc1RoaXJkUGFydHkiOnRydWV9
• equiv: origin-trial content: A93bovR+QVXNx2/38qDbmeYYf1wdte9EO37K9eMq3r+541qo0byhYU899BhPB7Cv9QqD7wIbR1B6OAc9kEfYCA4AAACQeyJvcmlnaW4iOiJodHRwczovL2dvb2dsZXN5bmRpY2F0aW9uLmNvbTo0NDMiLCJmZWF0dXJlIjoiQUlQcm9tcHRBUElNdWx0aW1vZGFsSW5wdXQiLCJleHBpcnkiOjE3NzQzMTA0MDAsImlzU3ViZG9tYWluIjp0cnVlLCJpc1RoaXJkUGFydHkiOnRydWV9
• equiv: origin-trial content: A1S5fojrAunSDrFbD8OfGmFHdRFZymSM/1ss3G+NEttCLfHkXvlcF6LGLH8Mo5PakLO1sCASXU1/gQf6XGuTBgwAAACQeyJvcmlnaW4iOiJodHRwczovL2dvb2dsZXRhZ3NlcnZpY2VzLmNvbTo0NDMiLCJmZWF0dXJlIjoiQUlQcm9tcHRBUElNdWx0aW1vZGFsSW5wdXQiLCJleHBpcnkiOjE3NzQzMTA0MDAsImlzU3ViZG9tYWluIjp0cnVlLCJpc1RoaXJkUGFydHkiOnRydWV9

• Subscribe
• Login
• http://jmg.bmj.com/search
• http://jmg.bmj.com/
• Latest content
• Current issue
• Archive
• Instructions for authors
• About
• Topic collections
• https://myaccount.bmj.com/myaccount/signup.html?regService=etoc-alerts&corpusCode=jmedgenet&fwdUrl=https://jmg.bmj.com/
• View our latest modules
• collaboration
• Read the full anouncement
• editorial policies
• open access
• Author information
• Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia
• Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK)
• Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
• Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
• Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions
• Find out more
• Browse by collection
• Top cited articles
• Most read articles
• Responses
• http://jmg.bmj.com/pages/rss-feeds
• Editorial board
• Sign up for email alerts
• Thank you to our reviewers
• Contact us
• Cookie settings

• https://journals.bmj.com
• British Society for Genetic Medicine (BSGM)
• Visit this journal
• Optimising carrier frequency estimation using population sequencing data and variant effect predictions
• Association of PPARG gene variants with obesity in South Indian young adults: a cross-sectional study
• Dizygotic twin pseudochimaerism initially diagnosed as mosaic Klinefelter syndrome on microarray: case report
• here
• Submit a paper
• Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes
• Uncategorized
• MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak)
• Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies (Contributed by Erika Frangione)
• Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
• Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation (Contributed by Meng Gao)
• http://www.altmetric.com/details.php?citation_id=99910738
• Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers
• http://www.altmetric.com/details.php?citation_id=148524239
• Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
• http://www.altmetric.com/details.php?citation_id=156648694
• Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
• http://www.altmetric.com/details.php?citation_id=191618346
• MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans
• http://www.altmetric.com/details.php?citation_id=190731355
• End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes
• Current issue
• Visit this journal
• Current issue
• Visit this journal
• Current issue
• https://twitter.com/JMG_BMJ
• https://facebook.com/Journal.of.Medical.Genetics
• http://blogs.bmj.com/jmg?_gl=1*11fpzkk*_ga*MTgyNjYxODA1MC4xNjczMjYxNjcw*_ga_EXTSVLH45V*MTY3NDgwODc5OC4yNC4xLjE2NzQ4MTE4MzEuNDkuMC4w*_fplc*ZGZVb1FiJTJGeVZLTlJzVkFJb2JFN0FkOFVaYzAlMkJoTVVZT0ElMkY4Q0l1R3JJdnFDOEZ6VkpmYVZKbkZXaktUJTJGb3MxZnczbUdMS01vWDIxQnk5NWptJTJCemlMY0Nlb251Z2JtcFZmRmFBemNmYnlPaWZIakVnSW9VeFVXNGdCRUlQZyUzRCUzRA..
• Submit an article
• Editorial policies
• Open access at BMJ
• BMJ Author Hub
• Reprints
• Permissions
• Advertising
• Feedback form
• Accessibility
• https://www.bmj.com/company/
• Website Terms & Conditions
• Privacy & Cookies
• Contact BMJ

            Domain Name: BMJ.COM
Registrar: Gandi SAS
Domain Status: client transfer prohibited
Creation Date: 1995-02-25T05:00:00Z
Registry Expiry Date: 2027-02-26T05:00:00Z
Updated Date: 2026-01-22T05:00:51Z
Name Server: NS-1471.AWSDNS-55.ORG
Name Server: NS-1559.AWSDNS-02.CO.UK
Name Server: NS-294.AWSDNS-36.COM
Name Server: NS-652.AWSDNS-17.NET
REGISTRAR Contact: Gandi SAS
>>> Last update of RDAP database: 2026-02-27T04:11:56Z         

			#
# robots.txt
#
# This file is to prevent the crawling and indexing of certain parts
# of your site by web crawlers and spiders run by sites like Yahoo!
# and Google. By telling these "robots" where not to go on your site,
# you save bandwidth and server resources.
#
# This file will be ignored unless it is at the root of your host:
# Used:    http://example.com/robots.txt
# Ignored: http://example.com/site/robots.txt
#
# For more information about the robots.txt standard, see:
# http://www.robotstxt.org/robotstxt.html

Sitemap: https://jmg.bmj.com/sitemap.xml
Sitemap: https://jmg.bmj.com/pages/sitemap.xml

User-agent: *
Crawl-delay: 7
# CSS, JS, Images
Allow: /misc/*.css$
Allow: /misc/*.css?
Allow: /misc/*.js$
Allow: /misc/*.js?
Allow: /misc/*.gif
Allow: /misc/*.jpg
Allow: /misc/*.jpeg
Allow: /misc/*.png
Allow: /modules/*.css$
Allow: /modules/*.css?
Allow: /modules/*.js$
Allow: /modules/*.js?
Allow: /modules/*.gif
Allow: /modules/*.jpg
Allow: /modules/*.jpeg
Allow: /modules/*.png
Allow: /profiles/*.css$
Allow: /profiles/*.css?
Allow: /profiles/*.js$
Allow: /profiles/*.js?
Allow: /profiles/*.gif
Allow: /profiles/*.jpg
Allow: /profiles/*.jpeg
Allow: /profiles/*.png
Allow: /themes/*.css$
Allow: /themes/*.css?
Allow: /themes/*.js$
Allow: /themes/*.js?
Allow: /themes/*.gif
Allow: /themes/*.jpg
Allow: /themes/*.jpeg
Allow: /themes/*.png
# Directories
Disallow: /includes/
Disallow: /misc/
Disallow: /modules/
Disallow: /profiles/
Disallow: /scripts/
Disallow: /themes/
# Files
Disallow: /CHANGELOG.txt
Disallow: /cron.php
Disallow: /INSTALL.mysql.txt
Disallow: /INSTALL.pgsql.txt
Disallow: /INSTALL.sqlite.txt
Disallow: /install.php
Disallow: /INSTALL.txt
Disallow: /LICENSE.txt
Disallow: /MAINTAINERS.txt
Disallow: /update.php
Disallow: /UPGRADE.txt
Disallow: /xmlrpc.php
# Paths (clean URLs)
Disallow: /admin/
Disallow: /comment/reply/
Disallow: /filter/tips/
Disallow: /node/add/
Disallow: /search/
Disallow: /user/register/
Disallow: /user/password/
Disallow: /user/login/
Disallow: /user/logout/
# Paths (no clean URLs)
Disallow: /?q=admin/
Disallow: /?q=comment/reply/
Disallow: /?q=filter/tips/
Disallow: /?q=node/add/
Disallow: /?q=search/
Disallow: /?q=user/password/
Disallow: /?q=user/register/
Disallow: /?q=user/login/
Disallow: /?q=user/logout/

        

SEO técnico

SEO en la página

Contenido y UX