GeneMatcher

Glad to be part of this successful collaborative effort to describe de novo variants in FBXO11 that cause variable neurodev disorder. @UWCMG @GeneMatcher

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

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_a_clinici…

Update on Matchmaker Exchange in @HealthEuropa healtheuropa.eu/matchmaker-exc…

Really interesting to hear Ange-Line’s Bruel’s experience with data sharing @GeneMatcher; reducing time to diagnosis and discovering novel #RareDisease genes #CCG2018

With help of @GeneMatcher Snijders Blok et al. found that mutations in MED13 can lead to ID/DD with speech problems. twitter.com/Lot_SB/status/…

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

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. twitter.com/TheACMG/status…

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/reg/index.jsp?…

#geneMatcher: le Meetic des généticiens! #AssisesGenetique

@SGorokhova Please email us references for published papers so we can add them to our publications page, thanks!

Power of GeneMatcher! Boris KEREN (Paris): international collaborations underway for 25 genes, plus those already published #AssisesGenetique

genematcher.org —a free portal connecting clinicians & researchers from around the world who share an interest in the same gene or genes #AssisesGenetique

#genemarcher: Mettre en relation les cliniciens et les chercheurs en génétique genematcher.org

I used @GeneMatcher yesterday for the first time. Such a useful resource; easy to use, I found some hits & was contacted by other groups w/in hours #kidneyomics

Collaboration with @JansonWhite et al demonstrating importance of data sharing @GeneMatcher twitter.com/AJHGNews/statu…

@AlesMaver @UDNconnect @PhenomeCentral If you searched for it in @GeneMatcher from @PhenomeCentral over MatchMaker Exchange and did not get any hits then it isn’t in there yet. Also nothing precludes you from adding it to both databases, not all users choose to search over MatchMaker Exchange.

@AlesMaver @UDNconnect You will need to create an account GeneMatcher and create a submission for your gene. I can’t tell you whether it’s in the database or not.

Added about 20 publications citing @GeneMatcher to the list genematcher.org/publications