European Journal of Human Genetics
@ejhg-journal.bsky.social
The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research
Pinned
📢 The latest issue of #EJHG is online!
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
Reposted by European Journal of Human Genetics
📢 Novel heterozygous #MYH10 variants cause ocular coloboma and ptosis without neurodevelopmental disorders, expanding the MYH10 phenotype 🧬
#Genetics #RareDisease
www.nature.com/articles/s41...
#Genetics #RareDisease
www.nature.com/articles/s41...
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes - European Journal of Human Genetics
European Journal of Human Genetics - Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
www.nature.com
November 22, 2025 at 7:29 PM
📢 Novel heterozygous #MYH10 variants cause ocular coloboma and ptosis without neurodevelopmental disorders, expanding the MYH10 phenotype 🧬
#Genetics #RareDisease
www.nature.com/articles/s41...
#Genetics #RareDisease
www.nature.com/articles/s41...
📢 Novel heterozygous #MYH10 variants cause ocular coloboma and ptosis without neurodevelopmental disorders, expanding the MYH10 phenotype 🧬
#Genetics #RareDisease
www.nature.com/articles/s41...
#Genetics #RareDisease
www.nature.com/articles/s41...
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes - European Journal of Human Genetics
European Journal of Human Genetics - Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
www.nature.com
November 22, 2025 at 7:29 PM
📢 Novel heterozygous #MYH10 variants cause ocular coloboma and ptosis without neurodevelopmental disorders, expanding the MYH10 phenotype 🧬
#Genetics #RareDisease
www.nature.com/articles/s41...
#Genetics #RareDisease
www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 Genome sequencing in 32 fetuses with #prenatal #skeletal abnormalities achieved a 72% diagnostic yield, identifying pathogenic or likely pathogenic variants in most cases. 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders - European Journal of Human Genetics
European Journal of Human Genetics - Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
www.nature.com
November 20, 2025 at 10:47 AM
📢 Genome sequencing in 32 fetuses with #prenatal #skeletal abnormalities achieved a 72% diagnostic yield, identifying pathogenic or likely pathogenic variants in most cases. 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
📢 Genome sequencing in 32 fetuses with #prenatal #skeletal abnormalities achieved a 72% diagnostic yield, identifying pathogenic or likely pathogenic variants in most cases. 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders - European Journal of Human Genetics
European Journal of Human Genetics - Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
www.nature.com
November 20, 2025 at 10:47 AM
📢 Genome sequencing in 32 fetuses with #prenatal #skeletal abnormalities achieved a 72% diagnostic yield, identifying pathogenic or likely pathogenic variants in most cases. 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 WES in 768 patients revealed genetic causes in 65% of #HearingLoss cases, with the highest rates in severe-profound cases (95.8%).
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss - European Journal of Human Genetics
European Journal of Human Genetics - Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss
www.nature.com
November 18, 2025 at 3:52 PM
📢 WES in 768 patients revealed genetic causes in 65% of #HearingLoss cases, with the highest rates in severe-profound cases (95.8%).
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
📢 WES in 768 patients revealed genetic causes in 65% of #HearingLoss cases, with the highest rates in severe-profound cases (95.8%).
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss - European Journal of Human Genetics
European Journal of Human Genetics - Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss
www.nature.com
November 18, 2025 at 3:52 PM
📢 WES in 768 patients revealed genetic causes in 65% of #HearingLoss cases, with the highest rates in severe-profound cases (95.8%).
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
Forty novel variants were identified, supporting #WES and parental testing for early intervention. 🧬
www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 MINDDS-Connect is a platform that enables secure querying of patient samples and the construction of virtual meta-cohorts, while allowing institutions to retain control of their data. 🧬 #Genomics #DataSharing
Read more ⬇️
www.nature.com/articles/s41...
Read more ⬇️
www.nature.com/articles/s41...
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis - European Journal of Human Genetics
European Journal of Human Genetics - MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis
www.nature.com
November 17, 2025 at 9:37 AM
📢 MINDDS-Connect is a platform that enables secure querying of patient samples and the construction of virtual meta-cohorts, while allowing institutions to retain control of their data. 🧬 #Genomics #DataSharing
Read more ⬇️
www.nature.com/articles/s41...
Read more ⬇️
www.nature.com/articles/s41...
📢 MINDDS-Connect is a platform that enables secure querying of patient samples and the construction of virtual meta-cohorts, while allowing institutions to retain control of their data. 🧬 #Genomics #DataSharing
Read more ⬇️
www.nature.com/articles/s41...
Read more ⬇️
www.nature.com/articles/s41...
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis - European Journal of Human Genetics
European Journal of Human Genetics - MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis
www.nature.com
November 17, 2025 at 9:37 AM
📢 MINDDS-Connect is a platform that enables secure querying of patient samples and the construction of virtual meta-cohorts, while allowing institutions to retain control of their data. 🧬 #Genomics #DataSharing
Read more ⬇️
www.nature.com/articles/s41...
Read more ⬇️
www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 Rare #ARID2 variants cause a #neurodevelopmental disorder with developmental delay, ID, behavioural issues, and dysmorphic features.
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature - European Journal of Human Genetics
European Journal of Human Genetics - ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
www.nature.com
November 13, 2025 at 3:31 PM
📢 Rare #ARID2 variants cause a #neurodevelopmental disorder with developmental delay, ID, behavioural issues, and dysmorphic features.
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
📢 WES and telomere analyses in idiopathic pulmonary fibrosis #IPF patients uncovered pathogenic RTEL1 and NAF1 variants through a robust, clinically useful tiered virtual gene panel workflow. 🧬
Read more in the latest issue of #EJHG ⬇️
www.nature.com/articles/s41...
Read more in the latest issue of #EJHG ⬇️
www.nature.com/articles/s41...
November 15, 2025 at 1:11 PM
📢 WES and telomere analyses in idiopathic pulmonary fibrosis #IPF patients uncovered pathogenic RTEL1 and NAF1 variants through a robust, clinically useful tiered virtual gene panel workflow. 🧬
Read more in the latest issue of #EJHG ⬇️
www.nature.com/articles/s41...
Read more in the latest issue of #EJHG ⬇️
www.nature.com/articles/s41...
📢 Rare #ARID2 variants cause a #neurodevelopmental disorder with developmental delay, ID, behavioural issues, and dysmorphic features.
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature - European Journal of Human Genetics
European Journal of Human Genetics - ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
www.nature.com
November 13, 2025 at 3:31 PM
📢 Rare #ARID2 variants cause a #neurodevelopmental disorder with developmental delay, ID, behavioural issues, and dysmorphic features.
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬
🔗 www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 The latest issue of #EJHG is online!
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
November 11, 2025 at 6:26 PM
📢 The latest issue of #EJHG is online!
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
📢 The latest issue of #EJHG is online!
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
November 11, 2025 at 6:26 PM
📢 The latest issue of #EJHG is online!
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬
www.nature.com/ejhg/volumes...
📢 New #ClinicalGenetics risk assessment tools across Europe to systematise risk evaluation & monitor adverse events. Pinpointing risk enables targeted interventions, helping reduce risk & improve care quality! 🧬
#Genetics #PatientSafety
www.nature.com/articles/s41...
#Genetics #PatientSafety
www.nature.com/articles/s41...
What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis - European Journal of Human Genetics
European Journal of Human Genetics - What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis
www.nature.com
November 10, 2025 at 11:52 AM
📢 New #ClinicalGenetics risk assessment tools across Europe to systematise risk evaluation & monitor adverse events. Pinpointing risk enables targeted interventions, helping reduce risk & improve care quality! 🧬
#Genetics #PatientSafety
www.nature.com/articles/s41...
#Genetics #PatientSafety
www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 Children with #GeneticDisorders deserve specific growth charts too, and the #LMSz method makes this possible! 💡
➡️ www.nature.com/articles/s41...
➡️ www.nature.com/articles/s41...
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders - European Journal of Human Genetics
European Journal of Human Genetics - The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
www.nature.com
November 9, 2025 at 8:51 PM
📢 Children with #GeneticDisorders deserve specific growth charts too, and the #LMSz method makes this possible! 💡
➡️ www.nature.com/articles/s41...
➡️ www.nature.com/articles/s41...
📢 Children with #GeneticDisorders deserve specific growth charts too, and the #LMSz method makes this possible! 💡
➡️ www.nature.com/articles/s41...
➡️ www.nature.com/articles/s41...
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders - European Journal of Human Genetics
European Journal of Human Genetics - The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
www.nature.com
November 9, 2025 at 8:51 PM
📢 Children with #GeneticDisorders deserve specific growth charts too, and the #LMSz method makes this possible! 💡
➡️ www.nature.com/articles/s41...
➡️ www.nature.com/articles/s41...
📢 New in #EJHG: Expanding the molecular spectrum of aggrecanopathies: Exploring 24 patients with ACAN significant variants 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants - European Journal of Human Genetics
European Journal of Human Genetics - Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants
www.nature.com
November 6, 2025 at 11:50 AM
📢 New in #EJHG: Expanding the molecular spectrum of aggrecanopathies: Exploring 24 patients with ACAN significant variants 🧬
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 Welcome to the #EJHG October #JournalClub! 🧬
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
November 3, 2025 at 8:46 AM
📢 Welcome to the #EJHG October #JournalClub! 🧬
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
📢 Welcome to the #EJHG October #JournalClub! 🧬
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
November 3, 2025 at 8:46 AM
📢 Welcome to the #EJHG October #JournalClub! 🧬
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'
➡️ www.nature.com/articles/s41...
Reposted by European Journal of Human Genetics
📢 #AltmetricChampion of the October issue! 🧬
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
📢 A study of genetic effects on adverse events from antidepressants in the Estonian Biobank: CYP2C19 and polygenic risk scores. 🧬
@estbiobank.bsky.social
⬇️⬇️⬇️
www.nature.com/articles/s41...
@estbiobank.bsky.social
⬇️⬇️⬇️
www.nature.com/articles/s41...
Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank - European Journal of Human Genetics
European Journal of Human Genetics - Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank
www.nature.com
October 30, 2025 at 12:16 PM
📢 #AltmetricChampion of the October issue! 🧬
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
📢 #AltmetricChampion of the October issue! 🧬
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
📢 A study of genetic effects on adverse events from antidepressants in the Estonian Biobank: CYP2C19 and polygenic risk scores. 🧬
@estbiobank.bsky.social
⬇️⬇️⬇️
www.nature.com/articles/s41...
@estbiobank.bsky.social
⬇️⬇️⬇️
www.nature.com/articles/s41...
Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank - European Journal of Human Genetics
European Journal of Human Genetics - Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank
www.nature.com
October 30, 2025 at 12:16 PM
📢 #AltmetricChampion of the October issue! 🧬
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
Most discussed paper of this month: "Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank" ⬇️
🧬 Genomic testing is key for paediatric inborn errors of immunity (IEI), but how do parents experience mainstream genomic testing in #IEI?
📢 Interviews highlight psychosocial impacts and a need for tailored support. @tatyanes.bsky.social
#Genetics #RareDisease ⬇️
www.nature.com/articles/s41...
📢 Interviews highlight psychosocial impacts and a need for tailored support. @tatyanes.bsky.social
#Genetics #RareDisease ⬇️
www.nature.com/articles/s41...
“It’s a Godsend”: Parental experiences of genomic testing for paediatric inborn errors of immunity - European Journal of Human Genetics
European Journal of Human Genetics - “It’s a Godsend”: Parental experiences of genomic testing for paediatric inborn errors of immunity
www.nature.com
October 29, 2025 at 9:35 AM
🧬 Genomic testing is key for paediatric inborn errors of immunity (IEI), but how do parents experience mainstream genomic testing in #IEI?
📢 Interviews highlight psychosocial impacts and a need for tailored support. @tatyanes.bsky.social
#Genetics #RareDisease ⬇️
www.nature.com/articles/s41...
📢 Interviews highlight psychosocial impacts and a need for tailored support. @tatyanes.bsky.social
#Genetics #RareDisease ⬇️
www.nature.com/articles/s41...
📢 #Face2Gene: AI-driven tool for rare genetic disorders 🧬
#Genetics #AI #RareDisease ⬇️
www.nature.com/articles/s41...
#Genetics #AI #RareDisease ⬇️
www.nature.com/articles/s41...
Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene - European Journal of Human Genetics
European Journal of Human Genetics - Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene
www.nature.com
October 28, 2025 at 2:51 PM
📢 #Face2Gene: AI-driven tool for rare genetic disorders 🧬
#Genetics #AI #RareDisease ⬇️
www.nature.com/articles/s41...
#Genetics #AI #RareDisease ⬇️
www.nature.com/articles/s41...
📢 Reassessment of #VUS in #tumor suppressor genes using new #ClinGen PP1/PP4 guidance can improve variant interpretation accuracy. 🧬 #EJHG #Genetics
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance - European Journal of Human Genetics
European Journal of Human Genetics - Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance
www.nature.com
October 27, 2025 at 9:00 AM
Reposted by European Journal of Human Genetics
Our article describing the "Proto-Dravidian" ancestry has been published in the European Journal of Human Genetics @ejhg-journal.bsky.social Here is a simplified summary of the scientific findings. #protodravidian #ivc #ancientcivilisation popgenworld.blogspot.com/2025/10/trac...
Tracing the Roots of the Koraga: The Discovery of a Lost Ancestor in India's Genetic Story
I n the lush, coastal districts of South India, the Koraga people have lived for generations on the margins. Historically labelled as "untou...
popgenworld.blogspot.com
October 26, 2025 at 7:54 AM
Our article describing the "Proto-Dravidian" ancestry has been published in the European Journal of Human Genetics @ejhg-journal.bsky.social Here is a simplified summary of the scientific findings. #protodravidian #ivc #ancientcivilisation popgenworld.blogspot.com/2025/10/trac...