Volume 34; Issue 6

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Human Mutation
Volume 34; Issue 6

Human Mutation

Volume 34; Issue 6

1

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 411 KB

english, 2013

2

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

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.

Journal:

Year:

2013

Language:

english

File:

PDF, 133 KB

english, 2013

3

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

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, Wil

Journal:

Year:

2013

Language:

english

File:

PDF, 2.25 MB

english, 2013

4

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 345 KB

english, 2013

5

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 155 KB

english, 2013

6

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 174 KB

english, 2013

7

Prioritization of Retinal Disease Genes: An Integrative Approach

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

Journal:

Year:

2013

Language:

english

File:

PDF, 270 KB

english, 2013

8

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

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,

Journal:

Year:

2013

Language:

english

File:

PDF, 384 KB

english, 2013

9

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 368 KB

english, 2013

10

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 348 KB

english, 2013

11

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

Varga, Rita-Eva, Schüle, Rebecca, Fadel, Hicham, Valenzuela, Irene, Speziani, Fiorella, Gonzalez, Michael, Rudenskaia, Galina, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Alvarez, Victoria, G

Journal:

Year:

2013

Language:

english

File:

PDF, 554 KB

english, 2013

12

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 96 KB

english, 2013

13

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 530 KB

english, 2013

14

Human “Monogenic” Disease Gene Discovery: When Models of Inheritance Go Wrong

Scott, Hamish S.

Journal:

Year:

2013

Language:

english

File:

PDF, 85 KB

english, 2013

15

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

Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John

Journal:

Year:

2013

Language:

english

File:

PDF, 486 KB

english, 2013

16

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 142 KB

english, 2013

17

Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay

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

Journal:

Year:

2013

Language:

english

File:

PDF, 328 KB

english, 2013

18

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 78 KB

english, 2013

19

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

Journal:

Year:

2013

Language:

english

File:

PDF, 84 KB

english, 2013

20

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 111 KB

english, 2013

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