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