Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 6

Results: 20

RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 925, doi. 10.1002/humu.22323

By:

Sabarinathan, Radhakrishnan;
Tafer, Hakim;
Seemann, Stefan E.;
Hofacker, Ivo L.;
Stadler, Peter F.;
Gorodkin, Jan

Publication type:

Article

Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 847, doi. 10.1002/humu.22311

By:

Ingham, Danielle;
Diggle, Christine P.;
Berry, Ian;
Bristow, Claire A.;
Hayward, Bruce E.;
Rahman, Nazneen;
Markham, Alexander F.;
Sheridan, Eamonn G.;
Bonthron, David T.;
Carr, Ian M.

Publication type:

Article

Prioritization of Retinal Disease Genes: An Integrative Approach.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 853, doi. 10.1002/humu.22317

By:

Wagner, Alex H.;
Taylor, Kyle R.;
DeLuca, Adam P.;
Casavant, Thomas L.;
Mullins, Robert F.;
Stone, Edwin M.;
Scheetz, Todd E.;
Braun, Terry A.

Publication type:

Article

Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 923, doi. 10.1002/humu.22310

By:

Rasmussen, Lene Juel;
Heinen, Christopher D.;
Royer‐Pokora, Brigitte;
Drost, Mark;
Tavtigian, Sean;
Hofstra, Robert M.W.;
Wind, Niels

Publication type:

Article

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 882, doi. 10.1002/humu.22307

By:

Tang, Sha;
Wang, Jing;
Zhang, Victor Wei;
Li, Fang‐Yuan;
Landsverk, Megan;
Cui, Hong;
Truong, Cavatina K.;
Wang, Guoli;
Chen, Li Chieh;
Graham, Brett;
Scaglia, Fernando;
Schmitt, Eric S.;
Craigen, William J.;
Wong, Lee‐Jun C.

Publication type:

Article

Human 'Monogenic' Disease Gene Discovery: When Models of Inheritance Go Wrong.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. v, doi. 10.1002/humu.22189

By:

Scott, Hamish S.

Publication type:

Article

Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 836, doi. 10.1002/humu.22303

By:

Kenna, Kevin P.;
McLaughlin, Russell L.;
Hardiman, Orla;
Bradley, Daniel G.

Publication type:

Article

Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1 B, Results in Overgrowth and Neurodevelopmental Delay.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 864, doi. 10.1002/humu.22314

By:

Grey, William;
Izatt, Louise;
Sahraoui, Wafa;
Ng, Yiu‐Ming;
Ogilvie, Caroline;
Hulse, Anthony;
Tse, Eric;
Holic, Roman;
Yu, Veronica

Publication type:

Article

Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 869, doi. 10.1002/humu.22318

By:

Milh, Mathieu;
Falace, Antonio;
Villeneuve, Nathalie;
Vanni, Nicola;
Cacciagli, Pierre;
Assereto, Stefania;
Nabbout, Rima;
Benfenati, Fabio;
Zara, Federico;
Chabrol, Brigitte;
Villard, Laurent;
Fassio, Anna

Publication type:

Article

TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 812, doi. 10.1002/humu.22319

By:

Lattante, Serena;
Rouleau, Guy A.;
Kabashi, Edor

Publication type:

Article

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 801, doi. 10.1002/humu.22313

By:

Sen, Partha;
Yang, Yaping;
Navarro, Colby;
Silva, Iris;
Szafranski, Przemyslaw;
Kolodziejska, Katarzyna E.;
Dharmadhikari, Avinash V.;
Mostafa, Hasnaa;
Kozakewich, Harry;
Kearney, Debra;
Cahill, John B.;
Whitt, Merrissa;
Bilic, Masha;
Margraf, Linda;
Charles, Adrian;
Goldblatt, Jack;
Gibson, Kathleen;
Lantz, Patrick E.;
Garvin, A. Julian;
Petty, John

Publication type:

Article

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 915, doi. 10.1002/humu.22306

By:

Riggs, Erin Rooney;
Wain, Karen E.;
Riethmaier, Darlene;
Savage, Melissa;
Smith‐Packard, Bethanny;
Kaminsky, Erin B.;
Rehm, Heidi L.;
Martin, Christa Lese;
Ledbetter, David H.;
Faucett, W. Andrew

Publication type:

Article

New Tools of the Trade for Large-scale Collaborative Genome Analysis.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. v, doi. 10.1002/humu.22188

By:

Hegde, Madhuri

Publication type:

Article

Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 920, doi. 10.1002/humu.22312

By:

Grandval, Philippe;
Fabre, Aurélie J.;
Olschwang, Sylviane

Publication type:

Article

GEnomes Management Application ( GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 842, doi. 10.1002/humu.22305

By:

Gonzalez, Michael A.;
Lebrigio, Rafael F. Acosta;
Van Booven, Derek;
Ulloa, Rick H.;
Powell, Eric;
Speziani, Fiorella;
Tekin, Mustafa;
Schüle, Rebecca;
Züchner, Stephan

Publication type:

Article

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 860, doi. 10.1002/humu.22309

By:

Varga, Rita‐Eva;
Schüle, Rebecca;
Fadel, Hicham;
Valenzuela, Irene;
Speziani, Fiorella;
Gonzalez, Michael;
Rudenskaia, Galina;
Nürnberg, Gudrun;
Thiele, Holger;
Altmüller, Janine;
Alvarez, Victoria;
Gamez, Josep;
Garbern, James Y.;
Nürnberg, Peter;
Zuchner, Stephan;
Beetz, Christian

Publication type:

Article

Combined Computational-Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 873, doi. 10.1002/humu.22300

By:

Aissat, Abdel;
Becdelièvre, Alix;
Golmard, Lisa;
Vasseur, Christian;
Costa, Catherine;
Chaoui, Asma;
Martin, Natacha;
Costes, Bruno;
Goossens, Michel;
Girodon, Emmanuelle;
Fanen, Pascale;
Hinzpeter, Alexandre

Publication type:

Article

EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 894, doi. 10.1002/humu.22304

By:

Monti, Paola;
Russo, Debora;
Bocciardi, Renata;
Foggetti, Giorgia;
Menichini, Paola;
Divizia, Maria T.;
Lerone, Margherita;
Graziano, Claudio;
Wischmeijer, Anita;
Viadiu, Hector;
Ravazzolo, Roberto;
Inga, Alberto;
Fronza, Gilberto

Publication type:

Article

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 827, doi. 10.1002/humu.22315

By:

Simeonov, Dimitre R.;
Wang, Xinjing;
Wang, Chen;
Sergeev, Yuri;
Dolinska, Monika;
Bower, Matthew;
Fischer, Roxanne;
Winer, David;
Dubrovsky, Genia;
Balog, Joan Z.;
Huizing, Marjan;
Hart, Rachel;
Zein, Wadih M.;
Gahl, William A.;
Brooks, Brian P.;
Adams, David R.

Publication type:

Article

The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 905, doi. 10.1002/humu.22308

By:

Germeshausen, Manuela;
Deerberg, Sabine;
Peter, Yvonne;
Reimer, Christina;
Kratz, Christian P.;
Ballmaier, Matthias

Publication type:

Article