Sebastien Jacquemont

Geneticist. Investigating links between genomic variants, neuroimaging phenotypes, cognition, and risk for psychiatric conditions.

[Sebastien Jacquemont @JacquemontSeb]

@ClaraMoreau9 @pierre_bellec @harvey_aa @kkumar_iitkgp @PTenigma @s_urchs @ThomasBourgeron @HuguetGuillaum5 @Winkytheelf @Laura_M_Schultz Fantastic multidisciplinary work spanning genomics and functional imaging led by @ClaraMoreau9. Thanks to all the collaborators that made these studies possible! @PTenigma @kkumar_iitkgp @Winkytheelf @ThomasBourgeron

[Guillaume Dumas @introspection]

@ClaraMoreau9 @pierre_bellec @JacquemontSeb @harvey_aa @kkumar_iitkgp @PTenigma @s_urchs @ThomasBourgeron @HuguetGuillaum5 @Winkytheelf @Laura_M_Schultz Congratulations Clara ! 🎉 You’re on fire 🔥🤘

[Sebastien Jacquemont @JacquemontSeb]

Monumental work by an awesome student !!!!

[Clara Moreau @ClaraMoreau9]

Our new preprint is now online! 🎉
#Polygenicity #Pleiotropy
'Atlas of functional #connectivity relationships across rare and common genetic variants, traits, and #psychiatric conditions'
@JacquemontSeb @pierre_bellec @ThomasBourgeron @PTenigma @meetkd007
https://t.co/t6Jjg8mm1E

[Clara Moreau @ClaraMoreau9]

Interview with @JacquemontSeb about our last paper in @Brain1878 "Dissecting autism and schizophrenia through neuroimaging genomics" 🧠🧬https://t.co/vnvorX1x3W

[Sebastien Jacquemont @JacquemontSeb]

Neuroimaging of large effect-size genetic risk for neuropsychiatric disorders is gaining traction! This robust effect and can be leveraged to link molecular function to large-scale brain networks.

[Clara Moreau @ClaraMoreau9]

Our new review in Current Opinion in Genetics & Development: Structural and functional brain alterations in #CNVs overlap with those found in idiopathic #psychiatric conditions but effect sizes are 2 to 5 fold larger @Winkytheelf @JacquemontSeb @meetkd007
https://t.co/2MqoNPaJTc

[Clara Moreau @ClaraMoreau9]

Our new review in Current Opinion in Genetics & Development: Structural and functional brain alterations in #CNVs overlap with those found in idiopathic #psychiatric conditions but effect sizes are 2 to 5 fold larger @Winkytheelf @JacquemontSeb @meetkd007
https://t.co/2MqoNPaJTc

[Kaitlin Samocha @ksamocha]

.@EmilieWigdor: Recent work has shown:
- common variants contribute risk for neurodevelopmental disorders (work by @ma_niemi)
- years of schooling, intelligence, and schizophrenia are genetically correlated with risk for NDDs
- sig enrichment of rare, inherited variants

#GRD21

[Spectrum (Autism Research News) @Spectrum]

There are no autism-specific genes, just brain genes, a #SpectrumViewpoint by @dhledbetter and @ScottMyers20 https://t.co/DbzBO2DZvY

[Sebastien Jacquemont @JacquemontSeb]

#JobAlert: Are you ready to tackle brain function and risk for psychiatric disorders using large-scale sequencing, neuroimaging, and cognitive datasets! @PTenigma, @G2MH_Network, @bogglerapture, @G2MH_Network

[Guillaume Dumas @introspection]

Ready to "reverse-engineer" the human brain in Montréal?

🚨#JobAlert: Post-Doc/PhD in psychiatric neurogenomics — fully funded!

Position in collaboration between @JacquemontSeb, @danilobzdok & @ppsp_team

https://t.co/Y9dNQjdzPm #PleaseRT

[Yaron Einhorn @yaronoox]

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy | Genetics and Genomics | JAMA | JAMA Network https://t.co/41ZCc2ov4V

[ida.soenderby @ISoenderby]

Rare CNV carriers may help us understand not only rare isolated syndromes, but also interrelated disorders and interaction between rare and common variants in shaping brain and disease. See how in the ENIGMA-CNV & 22q11.2 WGs’ review out today in HBM:
https://t.co/SwWhJEu3do

[Dr. Jennifer Mulle @shotgungladys]

I'm so proud of my team, and humbled and grateful for the opportunity to contribute to our understanding of 3q29 deletion syndrome: https://t.co/KgIdVyXtLO

[Sebastien Jacquemont @JacquemontSeb]

Study is out! High-confidence LoF mutations in a large proportion of ASD-genes show moderate relative risk for ASD and are observed in unaffected individuals. Yes, these variants are deleterious, but we overestimate their impact in the clinic!

[Thomas Rolland @ThomasRolland75]

What is the profile of carriers of autism-associated mutations in the general population? We identified such mutations among >10K autistic and >100K control individuals, but instead of focusing on the "patients", we looked at the non-autistic individuals.👉https://t.co/aUFnj5bQbh

[Andrés Moreno De Luca, MD, MBA, DABR @amorenodeluca]

Exome sequencing finds a genetic cause of cerebral palsy in 32.7% of pediatric patients and 10.5% of adults! 229 genes implicated in CP from our study of 1,526 patients. https://t.co/OTKXXOlmDP @JAMA_current @JAMANetwork @GeneDx @GeisingerADMI @GeisingerRads

[Jacob Vorstman 🇺🇦 @Jacob_Vorstman]

Just wanted to share with the world how immensely proud I am that @AFiksinski brilliantly defended her #PhD thesis today. Congratulations Dr Fiksinski 🎓. You have impressed us all. Time to celebrate 🥳👏💃🕺
#22q11DS #Psychiatrygenetics #schizophrenia #autism

[Ivan Guerra @ivanguerramex]

Esta es la "infraestructura" en la que nadie está invirtiendo. (Ni con una pandemia encima).

Ese es todo el tweet.

[Paul Holdengraber @holdengraber]

“It happened, therefore it can happen again: this is the core of what we have to say.”
~ Primo Levi
from “The Drowned and The Saved”

thanks to @PGourevitch

[Sebastien Jacquemont @JacquemontSeb]

Great but can you re-introduce the color coding identifying the type of variant : LoF versus missense? That was super practical !

[Genome Aggregation Database @gnomad_project]

The #gnomAD browser now displays more #ClinVar data!

New features include:
- ClinVar track includes all classifications
- Clinical significance, plus links to ClinVar, added to the variant table
- ClinVar details added to the variant page

[Sebastien Jacquemont @JacquemontSeb]

Congrats !

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

Although starting a new job and moving during a pandemic is a little weird, week 1 @StJudeResearch in #Memphis has been great! Almost (hopefully!) done orienting, training, etc. Focus for week 2: science! #epilepsy #genetics

[Sebastien Jacquemont @JacquemontSeb]

You are correct; we have learned this from families. It just needed a formal analysis with lots of data.

[22Q11 Ireland @22Q11_Ireland]

@JacquemontSeb @Jacob_Vorstman @danilobzdok @bogglerapture @hyejung_won @Winkytheelf @sebatlab Cannot claim to know the science of it but can claim to know that effects on cognitive abilities of CNV's are well known to families who have received deletion/duplication etc diagnosis for their kids. Individually rare, collectively very common indeed - wish we were asked!