@GeneMatcher

GeneMatcher

 JHMI, Baltimore, MD
genematcher.org/
Joined October 2013
  • Tweets92
  • Following11
  • Followers339
Glad to be part of this successful collaborative effort to describe de novo variants in FBXO11 that cause variable neurodev disorder. @UWCMG @GeneMatcher
AJHG@AJHGNews26 Jul 2018
New! Zweier & colleagues identify a neurodevelopmental disorder caused by de novo FBXO11 mutations bit.ly/2vbdD5g

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental...

Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically...

cell.com
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GeneMatcher retweeted
Keren Carss@kerencarss4 Jul 2018
Our latest paper is out! Thanks to all involved and @GeneMatcher. I'm especially pleased because I found our WASF1 case >3 years ago so it has been a long road. De Novo Truncating Mutations in WASF1 Cause ID with Seizures. @AJHGNews bit.ly/2KJPtIF
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Matchmaker Exchange now connects seven genomic matchmakers and two knowledge sources. Have a candidate gene? Enter your case into one of the connected databases which allows you to query the Matchmaker Exchange network for a match. matchmakerexchange.org/i_am_…
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Update on Matchmaker Exchange in @HealthEuropa healtheuropa.eu/matchmaker-e…
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GeneMatcher retweeted
None@PanelAppTeam23 May 2018
Really interesting to hear Ange-Line’s Bruel’s experience with data sharing @GeneMatcher; reducing time to diagnosis and discovering novel #RareDisease genes #CCG2018
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With help of @GeneMatcher Snijders Blok et al. found that mutations in MED13 can lead to ID/DD with speech problems. xitter.cf/Lot_SB/status/99485067…
Lot Snijders Blok@Lot_SB11 May 2018
Our new paper on MED13 mutations is out! 😀 link.springer.com/article/10…

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel...

Human Genetics - Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and...

link.springer.com
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GeneMatcher retweeted
ACMG
@TheACMG6 Mar 2018
ACMG Case Conference - Matchmaker Exchange: Solving Unsolved Cases. @JohnsHopkins will present & lead discussions on intriguing, complex/difficult patient case in the area of genomics. Join us on Wednesday, March 21st from 2:00–3:00 pm EST goo.gl/GXLy5F
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Are you planning to share a case at #ACMGMtg18 diagnostic challenges? If it involves a candidate gene, we encourage you to also submit the case to a Matchmaker Exchange node like @GeneMatcher @MyGene2 @PhenomeCentral @decipher_wtsi - you could find others with a similar patient. xitter.cf/TheACMG/status/9695912…
ACMG
@TheACMG2 Mar 2018
Have an interesting case to discuss at #ACMGMtg18? See open case presentations and submit your case by March 16: Adult/Cancer Diagnostic Challenges goo.gl/JQWn5y, Prenatal Diagnostic Challenges goo.gl/oPkZj8, Pedi Diagnostic Challenges goo.gl/VJXkAA
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The March @TheACMG Genomics Case Conference features Dr. Nara Sobreira of @GeneMatcher and @HopkinsMedicine discussing Solving Unsolved Cases and Matchmaker Exchange, sign up here eventcallregistration.com/re…
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#geneMatcher: le Meetic des généticiens! #AssisesGenetique
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Power of GeneMatcher! Boris KEREN (Paris): international collaborations underway for 25 genes, plus those already published #AssisesGenetique
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genematcher.org —a free portal connecting clinicians & researchers from around the world who share an interest in the same gene or genes #AssisesGenetique
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#genemarcher: Mettre en relation les cliniciens et les chercheurs en génétique genematcher.org/
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Collaboration with @JansonWhite et al demonstrating importance of data sharing @GeneMatcher xitter.cf/AJHGNews/status/943890…
AJHG@AJHGNews21 Dec 2017
New today! @JansonWhite et al. explore the genetic heterogeneity of Robinow syndrome bit.ly/2BN0K4e
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Added about 20 publications citing @GeneMatcher to the list genematcher.org/publications
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NS: If you have a gene of interest in your patient & you want to look for other cases, submit to GeneMatcher #ASHG17 genematcher.org
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Updated the publications list on GeneMatcher genematcher.org/publications
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These are all papers we have published in less then a month! Like to acknowledge the Center for Mendelian Genomics, Broad and Genematcher!
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MME has updated our tiered consent policy matchmakerexchange.org/asset… see commentary in @GIMJournal onlinelibrary.wiley.com/doi/… @GA4GH
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