Volume 34; Issue 7

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Human Mutation
Volume 34; Issue 7

Human Mutation

Volume 34; Issue 7

1

A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome

Riuró, Helena, Beltran-Alvarez, Pedro, Tarradas, Anna, Selga, Elisabet, Campuzano, Oscar, Vergés, Marcel, Pagans, Sara, Iglesias, Anna, Brugada, Josep, Brugada, Pedro, Vázquez, Francisco M., Pérez, Gu

Journal:

Year:

2013

Language:

english

File:

PDF, 1.30 MB

english, 2013

2

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

Heintz, Caroline, Cotton, Richard G.H., Blau, Nenad

Journal:

Year:

2013

Language:

english

File:

PDF, 820 KB

english, 2013

3

Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer

Smith, Christopher G., Naven, Marc, Harris, Rebecca, Colley, James, West, Hannah, Li, Ning, Liu, Yuan, Adams, Richard, Maughan, Timothy S., Nichols, Laura, Kaplan, Richard, Wagner, Michael J., McLeod,

Journal:

Year:

2013

Language:

english

File:

PDF, 903 KB

english, 2013

4

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Almomani, Rowida, Boven, Ludolf G., van den Berg, Maarten P., van Spaendonck-Zwarts, Karin Y., van Tintelen, J. Peter, Sijmons, Rolf H

Journal:

Year:

2013

Language:

english

File:

PDF, 351 KB

english, 2013

5

Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations

Macfarlane, Catriona M., Collier, Pamela, Rahbari, Raheleh, Beck, Christine R., Wagstaff, John F., Igoe, Samantha, Moran, John V., Badge, Richard M.

Journal:

Year:

2013

Language:

english

File:

PDF, 543 KB

english, 2013

6

RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

Zhou, Haiyan, Rokach, Ori, Feng, Lucy, Munteanu, Iulia, Mamchaoui, Kamel, Wilmshurst, Jo M., Sewry, Caroline, Manzur, Adnan Y., Pillay, Komala, Mouly, Vincent, Duchen, Michael, Jungbluth, Heinz, Treve

Journal:

Year:

2013

Language:

english

File:

PDF, 715 KB

english, 2013

7

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

Carr, Ian M., Morgan, Joanne, Watson, Christopher, Melnik, Svitlana, Diggle, Christine P., Logan, Clare V., Harrison, Sally M., Taylor, Graham R., Pena, Sergio D.J., Markham, Alexander F., Alkuraya, F

Journal:

Year:

2013

Language:

english

File:

PDF, 434 KB

english, 2013

8

The UBIAD1 Prenyltransferase Links Menaquinone-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

File:

PDF, 98 KB

2013

9

Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction

Nakata, Tomohiko, Ito, Mikako, Azuma, Yoshiteru, Otsuka, Kenji, Noguchi, Yoichiro, Komaki, Hirofumi, Okumura, Akihisa, Shiraishi, Kazuhiro, Masuda, Akio, Natsume, Jun, Kojima, Seiji, Ohno, Kinji

Journal:

Year:

2013

Language:

english

File:

PDF, 761 KB

english, 2013

10

In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy

Yan, Shixu E., Lemmin, Thomas, Salvi, Suzanne, Lausch, Ekkehart, Superti-Furga, Andrea, Rokicki, Dariusz, Dal Peraro, Matteo, van der Goot, F. Gisou

Journal:

Year:

2013

Language:

english

File:

PDF, 692 KB

english, 2013

11

How to Assess Causality of TMPRSS6 Mutations?

Silvestri, Laura, Rausa, Marco, Pagani, Alessia, Nai, Antonella, Camaschella, Clara

Journal:

Year:

2013

Language:

english

File:

PDF, 198 KB

english, 2013

12

Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease

Matera, Ivana, Musso, Marco, Griseri, Paola, Rusmini, Marta, Di Duca, Marco, So, Man-ting, Mavilio, Domenico, Miao, Xiaoping, Tam, Paul HK, Ravazzolo, Roberto, Ceccherini, Isabella, Garcia-Barcelo, Me

Journal:

Year:

2013

Language:

english

File:

PDF, 82 KB

english, 2013

13

Different Molecular Consequences of Frameshift Mutations in the ANTXR2 Gene

Journal:

Year:

2013

Language:

english

File:

PDF, 79 KB

english, 2013

14

A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing

Sollie, Annet, Sijmons, Rolf H., Lindhout, Dick, van der Ploeg, Ans T., Rubio Gozalbo, M. Estela, Smit, G. Peter A., Verheijen, Frans, Waterham, Hans R., van Weely, Sonja, Wijburg, Frits A., Wijburg,

Journal:

Year:

2013

Language:

english

File:

PDF, 331 KB

english, 2013

15

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation

Capri, Yline, Friesema, Edith C.H., Kersseboom, Simone, Touraine, Renaud, Monnier, Aurélie, Eymard-Pierre, Eléonore, Des Portes, Vincent, De Michele, Giusseppe, Brady, Angela F., Boespflug-Tanguy, Odi

Journal:

Year:

2013

Language:

english

File:

PDF, 333 KB

english, 2013

16

Online Biomedical Resources for Malaria-Related Red Cell Disorders

Piel, Frédéric B., Howes, Rosalind E., Nyangiri, Oscar A., Moyes, Catherine L., Williams, Thomas N., Weatherall, David J., Hay, Simon I.

Journal:

Year:

2013

Language:

english

File:

PDF, 440 KB

english, 2013

17

A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 ( CRMP4 ) Gene is Associated with ALS

Blasco, Hélène, Bernard-Marissal, Nathalie, Vourc'h, Patrick, Guettard, Yves Olivier, Sunyach, Claire, Augereau, Olivier, Khederchah, Joelle, Mouzat, Kevin, Antar, Catherine, Gordon, Paul H., Veyrat-D

Journal:

Year:

2013

Language:

english

File:

PDF, 314 KB

english, 2013

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