Genetics in Medicine Year in Review: As 2024 draws to a close, make sure to check out some highlights from GIM's EIC Robert D. Steiner, MD, FACMG in this year's #EditorsChoice roundup of articles that deserve a read (or a re-read!): bit.ly/400sJsJ
December 30, 2024 at 10:14 PM
Genetics in Medicine Year in Review: As 2024 draws to a close, make sure to check out some highlights from GIM's EIC Robert D. Steiner, MD, FACMG in this year's #EditorsChoice roundup of articles that deserve a read (or a re-read!): bit.ly/400sJsJ
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome www.sciencedirect.com/science/arti... #hvhebron #gen [Text complet]
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
Fetal Alcohol Spectrum Disorder (FASD) encompasses a range of clinical features and neurodevelopmental disorders in children exposed to alcohol in ute…
www.sciencedirect.com
September 23, 2025 at 9:26 AM
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome www.sciencedirect.com/science/arti... #hvhebron #gen [Text complet]
"Now, a team of Canadian and American scientists have developed a computational tool that can diagnose 14 rare, hereditary disorders based on a patient’s episignature."
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
June 17, 2025 at 8:50 PM
"Now, a team of Canadian and American scientists have developed a computational tool that can diagnose 14 rare, hereditary disorders based on a patient’s episignature."
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Next up: Amandine Santini
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
www.nature.com
May 25, 2025 at 9:29 AM
Next up: Amandine Santini
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
The team also discovered an episignature associated with severe ReNU syndrome (in red, compared to controls in purple). This could help to diagnose ReNU syndrome in individuals without genome sequencing 🤞
5/9
5/9
October 9, 2024 at 9:43 AM
The team also discovered an episignature associated with severe ReNU syndrome (in red, compared to controls in purple). This could help to diagnose ReNU syndrome in individuals without genome sequencing 🤞
5/9
5/9
Nanopore sequencing-based episignature detection https://www.medrxiv.org/content/10.1101/2024.04.19.24305959v1
Nanopore sequencing-based episignature detection https://www.medrxiv.org/content/10.1101/2024.04.19.24305959v1
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wid
www.medrxiv.org
April 22, 2024 at 4:39 PM
Nanopore sequencing-based episignature detection https://www.medrxiv.org/content/10.1101/2024.04.19.24305959v1
📢Out in @ejhg-journal.bsky.social
Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases.
#NDDs #DNAm #Episignature
www.nature.com/articles/s41...
Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases.
#NDDs #DNAm #Episignature
www.nature.com/articles/s41...
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci - European Journal of Human Genetics
European Journal of Human Genetics - Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
www.nature.com
June 10, 2025 at 8:43 AM
📢Out in @ejhg-journal.bsky.social
Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases.
#NDDs #DNAm #Episignature
www.nature.com/articles/s41...
Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases.
#NDDs #DNAm #Episignature
www.nature.com/articles/s41...
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature https://www.medrxiv.org/content/10.1101/2023.10.11.23296741v1
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature https://www.medrxiv.org/content/10.1101/2023.10.11.23296741v1
Sequence-based genetic testing currently identifies causative genetic variants in ~50% of individual
www.medrxiv.org
October 13, 2023 at 7:40 AM
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature https://www.medrxiv.org/content/10.1101/2023.10.11.23296741v1
September 27, 2025 at 12:08 AM
📢 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...
Additionally, once more, the study of the methylation profile ("episignature") was fundamental for the classification of the variant. Overall, here we suggested that variants impacting exon 20 may be associated to a distinct form of Rubinstein–Taybi syndrome (RSTS).
Have a look: lnkd.in/dimVaVXi
Have a look: lnkd.in/dimVaVXi
November 28, 2024 at 10:09 AM
Additionally, once more, the study of the methylation profile ("episignature") was fundamental for the classification of the variant. Overall, here we suggested that variants impacting exon 20 may be associated to a distinct form of Rubinstein–Taybi syndrome (RSTS).
Have a look: lnkd.in/dimVaVXi
Have a look: lnkd.in/dimVaVXi