Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 10

Results: 17

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 950, doi. 10.1002/humu.22836
By:
- Gonzalez, Michael;
- Falk, Marni J.;
- Gai, Xiaowu;
- Postrel, Richard;
- Schüle, Rebecca;
- Zuchner, Stephan
Publication type:
Article
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 1009, doi. 10.1002/humu.22837
By:
- Au, P. Y. Billie;
- You, Jing;
- Caluseriu, Oana;
- Schwartzentruber, Jeremy;
- Majewski, Jacek;
- Bernier, Francois P.;
- Ferguson, Marcia;
- Valle, David;
- Parboosingh, Jillian S.;
- Sobreira, Nara;
- Innes, A. Micheil;
- Kline, Antonie D.
Publication type:
Article
GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 974, doi. 10.1002/humu.22838
By:
- Kirkpatrick, Brianne E.;
- Riggs, Erin Rooney;
- Azzariti, Danielle R.;
- Miller, Vanessa Rangel;
- Ledbetter, David H.;
- Miller, David T.;
- Rehm, Heidi;
- Martin, Christa Lese;
- Faucett, W. Andrew
Publication type:
Article
Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 1004, doi. 10.1002/humu.22839
By:
- Jurgens, Julie;
- Sobreira, Nara;
- Modaff, Peggy;
- Reiser, Catherine A.;
- Seo, Soo Hyun;
- Seong, Moon‐Woo;
- Park, Sung Sup;
- Kim, Ok Hwa;
- Cho, Tae‐Joon;
- Pauli, Richard M.
Publication type:
Article
Data Sharing in the Undiagnosed Diseases Network.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 985, doi. 10.1002/humu.22840
By:
- Brownstein, Catherine A.;
- Holm, Ingrid A.;
- Ramoni, Rachel;
- Goldstein, David B.
Publication type:
Article
Contents.
Published in:
2015
Publication type:
Other
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 931, doi. 10.1002/humu.22851
By:
- Buske, Orion J.;
- Girdea, Marta;
- Dumitriu, Sergiu;
- Gallinger, Bailey;
- Hartley, Taila;
- Trang, Heather;
- Misyura, Andriy;
- Friedman, Tal;
- Beaulieu, Chandree;
- Bone, William P.;
- Links, Amanda E.;
- Washington, Nicole L.;
- Haendel, Melissa A.;
- Robinson, Peter N.;
- Boerkoel, Cornelius F.;
- Adams, David;
- Gahl, William A.;
- Boycott, Kym M.;
- Brudno, Michael
Publication type:
Article
Participant-Driven Matchmaking in the Genomic Era.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 965, doi. 10.1002/humu.22852
By:
- Lambertson, Katherine F.;
- Damiani, Stephen A.;
- Might, Matthew;
- Shelton, Robert;
- Terry, Sharon F.
Publication type:
Article
Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 979, doi. 10.1002/humu.22857
By:
- Mungall, Christopher J.;
- Washington, Nicole L.;
- Nguyen‐Xuan, Jeremy;
- Condit, Christopher;
- Smedley, Damian;
- Köhler, Sebastian;
- Groza, Tudor;
- Shefchek, Kent;
- Hochheiser, Harry;
- Robinson, Peter N.;
- Lewis, Suzanna E.;
- Haendel, Melissa A.
Publication type:
Article
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
By:
- Philippakis, Anthony A.;
- Azzariti, Danielle R.;
- Beltran, Sergi;
- Brookes, Anthony J.;
- Brownstein, Catherine A.;
- Brudno, Michael;
- Brunner, Han G.;
- Buske, Orion J.;
- Carey, Knox;
- Doll, Cassie;
- Dumitriu, Sergiu;
- Dyke, Stephanie O.M.;
- den Dunnen, Johan T.;
- Firth, Helen V.;
- Gibbs, Richard A.;
- Girdea, Marta;
- Gonzalez, Michael;
- Haendel, Melissa A.;
- Hamosh, Ada;
- Holm, Ingrid A.
Publication type:
Article
The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 922, doi. 10.1002/humu.22850
By:
- Buske, Orion J.;
- Schiettecatte, François;
- Hutton, Benjamin;
- Dumitriu, Sergiu;
- Misyura, Andriy;
- Huang, Lijia;
- Hartley, Taila;
- Girdea, Marta;
- Sobreira, Nara;
- Mungall, Chris;
- Brudno, Michael
Publication type:
Article
Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 957, doi. 10.1002/humu.22841
By:
- Lancaster, Owen;
- Beck, Tim;
- Atlan, David;
- Swertz, Morris;
- Thangavelu, Dhiwagaran;
- Veal, Colin;
- Dalgleish, Raymond;
- Brookes, Anthony J
Publication type:
Article
Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 941, doi. 10.1002/humu.22842
By:
- Chatzimichali, Eleni A.;
- Brent, Simon;
- Hutton, Benjamin;
- Perrett, Daniel;
- Wright, Caroline F.;
- Bevan, Andrew P.;
- Hurles, Matthew E.;
- Firth, Helen V.;
- Swaminathan, Ganesh J.
Publication type:
Article
Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 1015, doi. 10.1002/humu.22843
By:
- Loucks, Catrina M.;
- Parboosingh, Jillian S.;
- Shaheen, Ranad;
- Bernier, Francois P.;
- McLeod, D. Ross;
- Seidahmed, Mohammed Z.;
- Puffenberger, Erik G.;
- Ober, Carole;
- Hegele, Robert A.;
- Boycott, Kym M.;
- Alkuraya, Fowzan S.;
- Innes, A. Micheil
Publication type:
Article
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 928, doi. 10.1002/humu.22844
By:
- Sobreira, Nara;
- Schiettecatte, François;
- Valle, David;
- Hamosh, Ada
Publication type:
Article
Mitigating False-Positive Associations in Rare Disease Gene Discovery.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 998, doi. 10.1002/humu.22847
By:
- Akle, Sebastian;
- Chun, Sung;
- Jordan, Daniel M.;
- Cassa, Christopher A.
Publication type:
Article
The Genomic Birthday Paradox: How Much Is Enough?
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 989, doi. 10.1002/humu.22848
By:
- Krawitz, Peter;
- Buske, Orion;
- Zhu, Na;
- Brudno, Michael;
- Robinson, Peter N.
Publication type:
Article