Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 6

Results: 17

Cover, Volume 43, Issue 6.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. i, doi. 10.1002/humu.24401
By:
- Boycott, Kym M.;
- Azzariti, Danielle R.;
- Hamosh, Ada;
- Rehm, Heidi L.
Publication type:
Article
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 659, doi. 10.1002/humu.24373
By:
- Boycott, Kym M.;
- Azzariti, Danielle R.;
- Hamosh, Ada;
- Rehm, Heidi L.
Publication type:
Article
Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 791, doi. 10.1002/humu.24369
By:
- Rambla, Jordi;
- Baudis, Michael;
- Ariosa, Roberto;
- Beck, Tim;
- Fromont, Lauren A.;
- Navarro, Arcadi;
- Paloots, Rahel;
- Rueda, Manuel;
- Saunders, Gary;
- Singh, Babita;
- Spalding, John D.;
- Törnroos, Juha;
- Vasallo, Claudia;
- Veal, Colin D.;
- Brookes, Anthony J.
Publication type:
Article
seqr: A web‐based analysis and collaboration tool for rare disease genomics.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 698, doi. 10.1002/humu.24366
By:
- Pais, Lynn S.;
- Snow, Hana;
- Weisburd, Ben;
- Zhang, Shifa;
- Baxter, Samantha M.;
- DiTroia, Stephanie;
- O'Heir, Emily;
- England, Eleina;
- Chao, Katherine R.;
- Lemire, Gabrielle;
- Osei‐Owusu, Ikeoluwa;
- VanNoy, Grace E.;
- Wilson, Michael;
- Nguyen, Kevin;
- Arachchi, Harindra;
- Phu, William;
- Solomonson, Matthew;
- Mano, Stacy;
- O'Leary, Melanie;
- Lovgren, Alysia
Publication type:
Article
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 743, doi. 10.1002/humu.24364
By:
- Harnish, J. Michael;
- Li, Lucian;
- Rogic, Sanja;
- Poirier‐Morency, Guillaume;
- Kim, Seon‐Young;
- Boycott, Kym M.;
- Wangler, Michael F.;
- Bellen, Hugo J.;
- Hieter, Philip;
- Pavlidis, Paul;
- Liu, Zhandong;
- Yamamoto, Shinya
Publication type:
Article
Variant‐level matching for diagnosis and discovery: Challenges and opportunities.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 782, doi. 10.1002/humu.24359
By:
- Rodrigues, Eliete da S.;
- Griffith, Sean;
- Martin, Renan;
- Antonescu, Corina;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Doheny, Kimberly F.;
- Lupski, James R.;
- Valle, David;
- Bamshad, Michael J.;
- Hamosh, Ada;
- Sheffer, Assaf;
- Chong, Jessica X.;
- Einhorn, Yaron;
- Cupak, Miro;
- Sobreira, Nara
Publication type:
Article
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 708, doi. 10.1002/humu.24358
By:
- Rasi, Chiara;
- Nilsson, Daniel;
- Magnusson, Måns;
- Lesko, Nicole;
- Lagerstedt‐Robinson, Kristina;
- Wedell, Anna;
- Lindstrand, Anna;
- Wirta, Valtteri;
- Stranneheim, Henrik
Publication type:
Article
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 765, doi. 10.1002/humu.24356
By:
- Taylor, Julie P.;
- Malhotra, Alka;
- Burns, Nicole J.;
- Clause, Amanda R.;
- Brown, Carolyn M.;
- Burns, Brendan T.;
- Chandrasekhar, Anjana;
- Schlachetzki, Zinayida;
- Bennett, Maren;
- Thorpe, Erin;
- Taft, Ryan J.;
- Perry, Denise L.;
- Coffey, Alison J.
Publication type:
Article
Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 800, doi. 10.1002/humu.24354
By:
- Driver, Hannah G.;
- Hartley, Taila;
- Price, E. Magda;
- Turinsky, Andrei L.;
- Buske, Orion J.;
- Osmond, Matthew;
- Ramani, Arun K.;
- Kirby, Emily;
- Kernohan, Kristin D.;
- Couse, Madeline;
- Elrick, Hillary;
- Lu, Kevin;
- Mashouri, Pouria;
- Mohan, Aarthi;
- So, Delvin;
- Klamann, Conor;
- Le, Hannah G. B. H.;
- Herscovich, Andrea;
- Marshall, Christian R.;
- Statia, Andrew
Publication type:
Article
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 717, doi. 10.1002/humu.24353
By:
- Laurie, Steven;
- Piscia, Davide;
- Matalonga, Leslie;
- Corvó, Alberto;
- Fernández‐Callejo, Marcos;
- Garcia‐Linares, Carles;
- Hernandez‐Ferrer, Carles;
- Luengo, Cristina;
- Martínez, Inés;
- Papakonstantinou, Anastasios;
- Picó‐Amador, Daniel;
- Protasio, Joan;
- Thompson, Rachel;
- Tonda, Raul;
- Bayés, Mònica;
- Bullich, Gemma;
- Camps‐Puchadas, Jordi;
- Paramonov, Ida;
- Trotta, Jean‐Rémi;
- Alonso, Angel
Publication type:
Article
Discovery of over 200 new and expanded genetic conditions using GeneMatcher.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 760, doi. 10.1002/humu.24351
By:
- McWalter, K.;
- Torti, E.;
- Morrow, M.;
- Juusola, J.;
- Retterer, K.
Publication type:
Article
The impact of GeneMatcher on international data sharing and collaboration.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 668, doi. 10.1002/humu.24350
By:
- Hamosh, Ada;
- Wohler, Elizabeth;
- Martin, Renan;
- Griffith, Sean;
- Rodrigues, Eliete da S.;
- Antonescu, Corina;
- Doheny, Kimberly F.;
- Valle, David;
- Sobreira, Nara
Publication type:
Article
PhenomeCentral: 7 years of rare disease matchmaking.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 674, doi. 10.1002/humu.24348
By:
- Osmond, Matthew;
- Hartley, Taila;
- Johnstone, Brittney;
- Andjic, Sasha;
- Girdea, Marta;
- Gillespie, Meredith;
- Buske, Orion;
- Dumitriu, Sergiu;
- Koltunova, Veronika;
- Ramani, Arun;
- Boycott, Kym M.;
- Brudno, Michael
Publication type:
Article
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 772, doi. 10.1002/humu.24342
By:
- Towne, Meghan C.;
- Rossi, Mari;
- Wayburn, Bess;
- Huang, Jennifer M.;
- Radtke, Kelly;
- Alcaraz, Wendy;
- Farwell Hagman, Kelly D.;
- Shinde, Deepali N.
Publication type:
Article
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 734, doi. 10.1002/humu.24341
By:
- Fujiwara, Toyofumi;
- Shin, Jae‐Moon;
- Yamaguchi, Atsuko
Publication type:
Article
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 682, doi. 10.1002/humu.24340
By:
- Foreman, Julia;
- Brent, Simon;
- Perrett, Daniel;
- Bevan, Andrew P.;
- Hunt, Sarah E.;
- Cunningham, Fiona;
- Hurles, Matthew E.;
- Firth, Helen V.
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 655, doi. 10.1002/humu.24228
Publication type:
Article