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Update on Matchmaker Exchange in Health Europa healtheuropa.eu/matchmaker-exc…

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…

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. AJHG bit.ly/2KJPtIF

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

These are all papers we have published in less then a month! Like to acknowledge the Center for Mendelian Genomics, Broad and Genematcher!

Updated the publications list on GeneMatcher genematcher.org/publications

NS: If you have a gene of interest in your patient & you want to look for other cases, submit to GeneMatcher #ASHG17 genematcher.org

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

Collaboration with Janson white et al demonstrating importance of data sharing GeneMatcher x.com/AJHGNews/statu…

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

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

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

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

#geneMatcher: le Meetic des généticiens! #AssisesGenetique

The March ACMG Genomics Case Conference features Dr. Nara Sobreira of GeneMatcher and Johns Hopkins Medicine discussing Solving Unsolved Cases and Matchmaker Exchange, sign up here eventcallregistration.com/reg/index.jsp?…

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 old - you could find others with a similar patient. x.com/TheACMG/status…

ACMG Case Conference - Matchmaker Exchange: Solving Unsolved Cases. Johns Hopkins University 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

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/…

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