GeneMatcher
Joined October 2013
- Tweets 92
- Following 11
- Followers 341
- Likes 0
Photos and videos
GeneMatcher retweeted
Glad to be part of this successful collaborative effort to describe de novo variants in FBXO11 that cause variable neurodev disorder. @UWCMG @GeneMatcher
New! Zweier & colleagues identify a neurodevelopmental disorder caused by de novo FBXO11 mutations bit.ly/2vbdD5g
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GeneMatcher retweeted
4 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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GeneMatcher retweeted
14 Jun 2018
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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GeneMatcher retweeted
14 Jun 2018
Update on Matchmaker Exchange in @HealthEuropa
healtheuropa.eu/matchmaker-e…
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GeneMatcher retweeted
23 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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GeneMatcher retweeted
14 May 2018
With help of @GeneMatcher Snijders Blok et al. found that mutations in MED13 can lead to ID/DD with speech problems. x.com/Lot_SB/status/99485067…
11 May 2018
Our new paper on MED13 mutations is out! 😀
link.springer.com/article/10…
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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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GeneMatcher retweeted
2 Mar 2018
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. x.com/TheACMG/status/9695912…
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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GeneMatcher retweeted
28 Feb 2018
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 retweeted
24 Jan 2018
Power of GeneMatcher! Boris KEREN (Paris): international collaborations underway for 25 genes, plus those already published #AssisesGenetique
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GeneMatcher retweeted
24 Jan 2018
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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GeneMatcher retweeted
24 Jan 2018
#genemarcher: Mettre en relation les cliniciens et les chercheurs en génétique genematcher.org/
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GeneMatcher retweeted
2 Jan 2018
Collaboration with @JansonWhite et al demonstrating importance of data sharing @GeneMatcher x.com/AJHGNews/status/943890…
New today! @JansonWhite et al. explore the genetic heterogeneity of Robinow syndrome bit.ly/2BN0K4e
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14 Nov 2017
Added about 20 publications citing @GeneMatcher to the list genematcher.org/publications
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GeneMatcher retweeted
19 Oct 2017
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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GeneMatcher retweeted
29 Sep 2017
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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GeneMatcher retweeted
25 Jul 2017
MME has updated our tiered consent policy matchmakerexchange.org/asset… see commentary in @GIMJournal onlinelibrary.wiley.com/doi/… @GA4GH
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