Volume 34; Issue 2

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Human Mutation
Volume 34; Issue 2

Human Mutation

Volume 34; Issue 2

1

Statistical Analysis of Missense Mutation Classifiers

Hicks, Stephanie, Plon, Sharon E., Kimmel, Marek

Journal:

Year:

2013

Language:

english

File:

PDF, 108 KB

english, 2013

2

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer

Journal:

Year:

2013

Language:

english

File:

PDF, 373 KB

english, 2013

3

Mutations in NLRP 7 and KHDC 3 L Confer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions

Fallahian, Masoumeh, Sebire, Neil J., Savage, Philip M., Seckl, Michael J., Fisher, Rosemary A.

Journal:

Year:

2013

Language:

english

File:

PDF, 373 KB

english, 2013

4

The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes

Nickerson, Michael L., Bosley, Allen D., Weiss, Jayne S., Kostiha, Brittany N., Hirota, Yoshihisa, Brandt, Wolfgang, Esposito, Dominic, Kinoshita, Shigeru, Wessjohann, Ludger, Morham, Scott G., Andres

Journal:

Year:

2013

Language:

english

File:

PDF, 656 KB

english, 2013

5

Unilateral Cryptorchidism in Mice Mutant for Ptgds

Philibert, Pascal, Boizet-Bonhoure, Brigitte, Bashamboo, Anu, Paris, Françoise, Aritake, Kosuke, Urade, Yoshihiro, Leger, Juliane, Sultan, Charles, Poulat, Francis

Journal:

Year:

2013

Language:

english

File:

PDF, 328 KB

english, 2013

6

Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation

Choi, Byung Yoon, Kim, Do-Hwan, Chung, Taesu, Chang, Mi, Kim, Eun-Hye, Kim, Ah Reum, Seok, Jungirl, Chang, Sun O, Bok, Jinwoong, Kim, Dongsup, Oh, Seung-Ha, Park, Woong-Yang

Journal:

Year:

2013

Language:

english

File:

PDF, 493 KB

english, 2013

7

Modeling Tumor Progression by the Sequential Introduction of Genetic Alterations into the Genome of Human Normal Cells

Zecchin, Davide, Arena, Sabrina, Martini, Miriam, Sassi, Francesco, Pisacane, Alberto, Di Nicolantonio, Federica, Bardelli, Alberto

Journal:

Year:

2013

Language:

english

File:

PDF, 425 KB

english, 2013

8

A Novel RAB33B Mutation in Smith-McCort Dysplasia

Dupuis, Nina, Lebon, Sophie, Kumar, Manoj, Drunat, Séverine, Graul-Neumann, Luitgard M., Gressens, Pierre, El Ghouzzi, Vincent

Journal:

Year:

2013

Language:

english

File:

PDF, 234 KB

english, 2013

9

Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

Hinzpeter, Alexandre, Aissat, Abdel, de Becdelièvre, Alix, Bieth, Eric, Sondo, Elvira, Martin, Natacha, Costes, Bruno, Costa, Catherine, Goossens, Michel, Galietta, Luis J.V., Girodon, Emmanuelle, Fan

Journal:

Year:

2013

Language:

english

File:

PDF, 219 KB

english, 2013

10

MT-ND5 Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations

Sanaker, Petter Schandl, Bindoff, Laurence A.

Journal:

Year:

2013

Language:

english

File:

PDF, 174 KB

english, 2013

11

Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs

Chen, Geng, Qiu, Chengxiang, Zhang, Qipeng, Liu, Bing, Cui, Qinghua

Journal:

Year:

2013

Language:

english

File:

PDF, 410 KB

english, 2013

12

Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

Pang, Andy Wing Chun, Migita, Ohsuke, MacDonald, Jeffrey R., Feuk, Lars, Scherer, Stephen W.

Journal:

Year:

2013

Language:

english

File:

PDF, 524 KB

english, 2013

13

Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

Tucci, Arianna, Kara, Eleanna, Schossig, Anna, Wolf, Nicole I., Plagnol, Vincent, Fawcett, Katherine, Paisán-Ruiz, Coro, Moore, Matthew, Hernandez, Dena, Musumeci, Sebastiano, Tennison, Michael, Henne

Journal:

Year:

2013

Language:

english

File:

PDF, 225 KB

english, 2013

14

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Oyarzabal, Alfonso, Martínez-Pardo, Mercedes, Merinero, Begoña, Navarrete, Rosa, Desviat, Lourdes R, Ugarte, Magdalena, Rodríguez-Pombo, Pilar

Journal:

Year:

2013

Language:

english

File:

PDF, 395 KB

english, 2013

15

Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations

Mokrani-Benhelli, Houda, Gaillard, Laetitia, Biasutto, Patricia, Le Guen, Tangui, Touzot, Fabien, Vasquez, Nadia, Komatsu, Jun, Conseiller, Emmanuel, Pïcard, Capucine, Gluckman, Eliane, Francannet, Ch

Journal:

Year:

2013

Language:

english

File:

PDF, 559 KB

english, 2013

16

The CDC Hemophilia A Mutation Project (CHAMP) Mutation List: A New Online Resource

Payne, Amanda B., Miller, Connie H., Kelly, Fiona M., Michael Soucie, J., Craig Hooper, W.

Journal:

Year:

2013

Language:

english

File:

PDF, 188 KB

english, 2013

17

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, Martin H., Hamdan, Fadi F., Klitten, Laura L., Møller, Rikke S., Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde,

Journal:

Year:

2013

Language:

english

File:

PDF, 530 KB

english, 2013

18

Functional Characterization of Novel Mutations Affecting Survivin (BIRC5)-Mediated Therapy Resistance in Head and Neck Cancer Patients

Knauer, Shirley K., Unruhe, Britta, Karczewski, Sarah, Hecht, Rouven, Fetz, Verena, Bier, Carolin, Friedl, Sandra, Wollenberg, Barbara, Pries, Ralph, Habtemichael, Negusse, Heinrich, Ulf-Rüdiger, Stau

Journal:

Year:

2013

Language:

english

File:

PDF, 534 KB

english, 2013

19

Response to: Statistical Analysis of Missense Mutation Classifiers

Acharya, Vishal, Nagarajaram, Hampapathalu A.

Journal:

Year:

2013

Language:

english

File:

PDF, 94 KB

english, 2013

20

Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis

Journal:

Year:

2013

Language:

english

File:

PDF, 115 KB

english, 2013

21

Jagged1 ( JAG1 ) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

Warthen, D. M., Moore, E. C., Kamath, B. M., Morrissette, J. J. D., Sanchez-Lara, P. A., Piccoli, D. A., Krantz, I. D., Spinner, N. B.

Journal:

Year:

2013

File:

PDF, 73 KB

2013

22

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter, van

Journal:

Year:

2013

Language:

english

File:

PDF, 162 KB

english, 2013

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