A. Santini et al. Rouen 🇫🇷
Epi2Diag building evidence for episignatures in NDD diagnosis.
Episignature performance not uniform. e.g. 👍 Sotos, NIPBL (not other BafOpaththies) but some others less
Retraining classifiers improved several weaker signatures.
#ESHG2026
Epi2Diag building evidence for episignatures in NDD diagnosis.
Episignature performance not uniform. e.g. 👍 Sotos, NIPBL (not other BafOpaththies) but some others less
Retraining classifiers improved several weaker signatures.
#ESHG2026
June 14, 2026 at 9:27 AM
A. Santini et al. Rouen 🇫🇷
Epi2Diag building evidence for episignatures in NDD diagnosis.
Episignature performance not uniform. e.g. 👍 Sotos, NIPBL (not other BafOpaththies) but some others less
Retraining classifiers improved several weaker signatures.
#ESHG2026
Epi2Diag building evidence for episignatures in NDD diagnosis.
Episignature performance not uniform. e.g. 👍 Sotos, NIPBL (not other BafOpaththies) but some others less
Retraining classifiers improved several weaker signatures.
#ESHG2026
Another collaborative paper on CHD3 episignatures in Genome Medicine
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies - Genome Medicine
Genome Medicine - Recent advances in sequencing technologies have enhanced patient diagnosis; however, causal pathogenic variants remain unidentified for a significant number of patients due to...
link.springer.com
April 11, 2026 at 9:49 AM
Another collaborative paper on CHD3 episignatures in Genome Medicine
link.springer.com/article/10.1...
link.springer.com/article/10.1...
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
🧬✨ Reminder: Curious about DNA methylation analysis? Join our upcoming webinar with Nazanin Mirza-Schreiber. We’ll cover data processing, visualization, EWAS, & episignature analyses in R, plus real-world case studies.
🗓️ 10 Dec 13:00-14:00
🔗 www.denbi.de/de-nbi-event...
#Epigenetics #Bioinformatics
🗓️ 10 Dec 13:00-14:00
🔗 www.denbi.de/de-nbi-event...
#Epigenetics #Bioinformatics
December 9, 2025 at 3:18 PM
🧬✨ Reminder: Curious about DNA methylation analysis? Join our upcoming webinar with Nazanin Mirza-Schreiber. We’ll cover data processing, visualization, EWAS, & episignature analyses in R, plus real-world case studies.
🗓️ 10 Dec 13:00-14:00
🔗 www.denbi.de/de-nbi-event...
#Epigenetics #Bioinformatics
🗓️ 10 Dec 13:00-14:00
🔗 www.denbi.de/de-nbi-event...
#Epigenetics #Bioinformatics
📢 Out now in EJHG!
🧬 Episignature analysis improved classification of CHD8 missense VUS. Combined with molecular modelling and detailed phenotyping, it supports a loss- or reduced-function mechanism for pathogenic CHD8 missense variants.
👉https://www.nature.com/articles/s41431-026-02209-4
🧬 Episignature analysis improved classification of CHD8 missense VUS. Combined with molecular modelling and detailed phenotyping, it supports a loss- or reduced-function mechanism for pathogenic CHD8 missense variants.
👉https://www.nature.com/articles/s41431-026-02209-4
August 13, 2026 at 6:00 AM
📢 Out now in EJHG!
🧬 Episignature analysis improved classification of CHD8 missense VUS. Combined with molecular modelling and detailed phenotyping, it supports a loss- or reduced-function mechanism for pathogenic CHD8 missense variants.
👉https://www.nature.com/articles/s41431-026-02209-4
🧬 Episignature analysis improved classification of CHD8 missense VUS. Combined with molecular modelling and detailed phenotyping, it supports a loss- or reduced-function mechanism for pathogenic CHD8 missense variants.
👉https://www.nature.com/articles/s41431-026-02209-4
September 27, 2025 at 12:08 AM
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome #RareDisease #Genetics link.springer.com/article/10.1...
July 21, 2026 at 4:49 PM
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome #RareDisease #Genetics link.springer.com/article/10.1...
🧬New from Weksberg & co!
📄A next-generation #episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
📄A next-generation #episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
A next-generation KMT2D episignature, defined using the largest Kabuki syndrome type
1 cohort to date, can be used to map pathogenic variants using array or long-read
platforms, to improve missense va...
www.cell.com
May 13, 2026 at 3:48 PM
🧬New from Weksberg & co!
📄A next-generation #episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
📄A next-generation #episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
23 new individuals expand SET-related NDD, with GDD/ID, hypotonia and speech delay as core features. Most variants are truncating. A new SET DNA methylation episignature distinguishes cases from controls and helps interpret VUS. bit.ly/4hfhlDb
September 21, 2026 at 7:55 PM
23 new individuals expand SET-related NDD, with GDD/ID, hypotonia and speech delay as core features. Most variants are truncating. A new SET DNA methylation episignature distinguishes cases from controls and helps interpret VUS. bit.ly/4hfhlDb
🧬 Workshop: Master Methylation Analysis!
Join our webinar on analyzing data from Illumina & ONT platforms. We'll cover QC, visualization, and advanced EWAS/episignature analysis using R.
Learn through real-world case studies!
👉 register now! t1p.de/nsxr2
#Bioinformatics #Epigenetics #Rstats #ONT
Join our webinar on analyzing data from Illumina & ONT platforms. We'll cover QC, visualization, and advanced EWAS/episignature analysis using R.
Learn through real-world case studies!
👉 register now! t1p.de/nsxr2
#Bioinformatics #Epigenetics #Rstats #ONT
November 26, 2025 at 10:53 AM
🧬 Workshop: Master Methylation Analysis!
Join our webinar on analyzing data from Illumina & ONT platforms. We'll cover QC, visualization, and advanced EWAS/episignature analysis using R.
Learn through real-world case studies!
👉 register now! t1p.de/nsxr2
#Bioinformatics #Epigenetics #Rstats #ONT
Join our webinar on analyzing data from Illumina & ONT platforms. We'll cover QC, visualization, and advanced EWAS/episignature analysis using R.
Learn through real-world case studies!
👉 register now! t1p.de/nsxr2
#Bioinformatics #Epigenetics #Rstats #ONT
📢 Out in AJHG:
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
www.cell.com
January 2, 2026 at 10:30 AM
📢 Out in AJHG:
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
🧬 New EJHG study expands the phenotypic spectrum of PACS1-related disorder and identifies a disease-specific DNA methylation episignature. These findings will support assessment of non-recurrent PACS1 variants and improve diagnosis in unresolved NDDs.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
March 26, 2026 at 12:09 PM
🧬 New EJHG study expands the phenotypic spectrum of PACS1-related disorder and identifies a disease-specific DNA methylation episignature. These findings will support assessment of non-recurrent PACS1 variants and improve diagnosis in unresolved NDDs.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
📅 Next Week!
Elevate your research toolkit. Join our focused webinar next week covering practical methylation data analysis from Illumina and Oxford Nanopore (ONT) platforms.
We'll master: QC, data viz, and EWAS/episignature methods using R.
Don't miss out! 👉 t1p.de/nsxr2
Elevate your research toolkit. Join our focused webinar next week covering practical methylation data analysis from Illumina and Oxford Nanopore (ONT) platforms.
We'll master: QC, data viz, and EWAS/episignature methods using R.
Don't miss out! 👉 t1p.de/nsxr2
🧬 Workshop: Master Methylation Analysis!
Join our webinar on analyzing data from Illumina & ONT platforms. We'll cover QC, visualization, and advanced EWAS/episignature analysis using R.
Learn through real-world case studies!
👉 register now! t1p.de/nsxr2
#Bioinformatics #Epigenetics #Rstats #ONT
Join our webinar on analyzing data from Illumina & ONT platforms. We'll cover QC, visualization, and advanced EWAS/episignature analysis using R.
Learn through real-world case studies!
👉 register now! t1p.de/nsxr2
#Bioinformatics #Epigenetics #Rstats #ONT
December 2, 2025 at 9:51 AM
📅 Next Week!
Elevate your research toolkit. Join our focused webinar next week covering practical methylation data analysis from Illumina and Oxford Nanopore (ONT) platforms.
We'll master: QC, data viz, and EWAS/episignature methods using R.
Don't miss out! 👉 t1p.de/nsxr2
Elevate your research toolkit. Join our focused webinar next week covering practical methylation data analysis from Illumina and Oxford Nanopore (ONT) platforms.
We'll master: QC, data viz, and EWAS/episignature methods using R.
Don't miss out! 👉 t1p.de/nsxr2
📢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...
📢 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...
DNA methylation episignature for White-Sutton syndrome due to POGZ variants #RareDisease #Genetics www.gimopen.org/article/S294...
August 6, 2026 at 11:14 AM
DNA methylation episignature for White-Sutton syndrome due to POGZ variants #RareDisease #Genetics www.gimopen.org/article/S294...
Validation of the VACTERL Episignature and Evidence for Epigenomic Convergence Across Recurrent Constellations of Embryonic Malformations https://www.medrxiv.org/content/10.64898/2026.07.10.26357391v1
July 14, 2026 at 3:40 PM
Validation of the VACTERL Episignature and Evidence for Epigenomic Convergence Across Recurrent Constellations of Embryonic Malformations https://www.medrxiv.org/content/10.64898/2026.07.10.26357391v1
A boy with unique traits opened the door to a new understanding of a rare genetic disorder related to CDK13. Researchers found a hypomorphic variant causing this condition, showcasing the power of methylation patterns for better diagnosis and insights into heart defects and developmental disorders.
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
Published in Clinical epigenetics
doi.org
January 13, 2025 at 8:00 AM
A boy with unique traits opened the door to a new understanding of a rare genetic disorder related to CDK13. Researchers found a hypomorphic variant causing this condition, showcasing the power of methylation patterns for better diagnosis and insights into heart defects and developmental disorders.
"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
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine www.cell.com/ajhg/abstrac... #hvhebron #gen [Text complet]
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
A next-generation KMT2D episignature, defined using the largest Kabuki syndrome type
1 cohort to date, can be used to map pathogenic variants using array or long-read
platforms, to improve missense va...
www.cell.com
May 19, 2026 at 5:00 PM
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine www.cell.com/ajhg/abstrac... #hvhebron #gen [Text complet]
Identification of an episignature for the MEF2C-associated syndrome
www.nature.com/articles/s41... #hvhebron #gen
www.nature.com/articles/s41... #hvhebron #gen
Identification of an episignature for the MEF2C-associated syndrome - European Journal of Human Genetics
European Journal of Human Genetics - Identification of an episignature for the MEF2C-associated syndrome
www.nature.com
November 27, 2025 at 3:44 PM
Identification of an episignature for the MEF2C-associated syndrome
www.nature.com/articles/s41... #hvhebron #gen
www.nature.com/articles/s41... #hvhebron #gen
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome scientiasalut.gencat.cat/handle/11351... #ScientiaVH
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
scientiasalut.gencat.cat
November 25, 2025 at 1:36 PM
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome scientiasalut.gencat.cat/handle/11351... #ScientiaVH
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]