Volume 37; Issue 1

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Human Mutation
Volume 37; Issue 1

Human Mutation

Volume 37; Issue 1

1

A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease

Kamat, Mihir Anant, Bacolla, Albino, Cooper, David N, Chuzhanova, Nadia

Journal:

Year:

2016

Language:

english

File:

PDF, 738 KB

english, 2016

2

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

Journal:

Year:

2016

Language:

english

File:

PDF, 547 KB

english, 2016

3

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)

Douville, Christopher, Masica, David L., Stenson, Peter D., Cooper, David N., Gygax, Derek M., Kim, Rick, Ryan, Michael, Karchin, Rachel

Journal:

Year:

2016

Language:

english

File:

PDF, 184 KB

english, 2016

4

wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases

Vazquez, Miguel, Pons, Tirso, Brunak, Søren, Valencia, Alfonso, Izarzugaza, Jose M.G.

Journal:

Year:

2016

Language:

english

File:

PDF, 419 KB

english, 2016

5

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

Vindas-Smith, Rebeca, Fiore, Michele, Vásquez, Melissa, Cuenca, Patricia, del Valle, Gerardo, Lagostena, Laura, Gaitán-Peñas, Héctor, Estevez, Raúl, Pusch, Michael, Morales, Fernando

Journal:

Year:

2016

Language:

english

File:

PDF, 1.26 MB

english, 2016

6

Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy

Visigalli, Davide, Castagnola, Patrizio, Capodivento, Giovanna, Geroldi, Alessandro, Bellone, Emilia, Mancardi, Gianluigi, Pareyson, Davide, Schenone, Angelo, Nobbio, Lucilla

Journal:

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

7

Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites

Bu, Huajie, Narisu, Narisu, Schlick, Bettina, Rainer, Johannes, Manke, Thomas, Schäfer, Georg, Pasqualini, Lorenza, Chines, Peter, Schweiger, Michal R., Fuchsberger, Christian, Klocker, Helmut

Journal:

Year:

2016

Language:

english

File:

PDF, 1007 KB

english, 2016

8

Efficient Generation of Gene-Modified Pigs Harboring Precise Orthologous Human Mutation via CRISPR/Cas9-Induced Homology-Directed Repair in Zygotes

Zhou, Xiaoyang, Wang, Lulu, Du, Yinan, Xie, Fei, Li, Liang, Liu, Yu, Liu, Chuanhong, Wang, Shiqiang, Zhang, Shibing, Huang, Xingxu, Wang, Yong, Wei, Hong

Journal:

Year:

2016

Language:

english

File:

PDF, 1.02 MB

english, 2016

9

Cover Image, Volume 37, Issue 1

Journal:

Year:

2016

File:

PDF, 928 KB

2016

10

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

Tayoun, Ahmad N. Abou, Mason-Suares, Heather, Frisella, Ashley L., Bowser, Mark, Duffy, Elizabeth, Mahanta, Lisa, Funke, Birgit, Rehm, Heidi L., Amr, Sami S.

Journal:

Year:

2016

Language:

english

File:

PDF, 625 KB

english, 2016

11

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies

Barat-Houari, Mouna, Sarrabay, Guillaume, Gatinois, Vincent, Fabre, Aurélie, Dumont, Bruno, Genevieve, David, Touitou, Isabelle

Journal:

Year:

2016

Language:

english

File:

PDF, 328 KB

english, 2016

12

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Mi

Journal:

Year:

2016

Language:

english

File:

PDF, 387 KB

english, 2016

13

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1 , Associated with Autosomal-Dominant Hereditary Connective Tissue Disease

Capuano, Alessandra, Bucciotti, Francesco, Farwell, Kelly D., Tippin Davis, Brigette, Mroske, Cameron, Hulick, Peter J., Weissman, Scott M., Gao, Qingshen, Spessotto, Paola, Colombatti, Alfonso, Dolia

Journal:

Year:

2016

Language:

english

File:

PDF, 3.81 MB

english, 2016

14

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy

Cesani, Martina, Lorioli, Laura, Grossi, Serena, Amico, Giulia, Fumagalli, Francesca, Spiga, Ivana, Filocamo, Mirella, Biffi, Alessandra

Journal:

Year:

2016

Language:

english

File:

PDF, 953 KB

english, 2016

15

Issue Information

Journal:

Year:

2016

File:

PDF, 457 KB

2016

16

The Genome Editing Revolution in Livestock Marches on

Whitelaw, C. Bruce A.

Journal:

Year:

2016

Language:

english

File:

PDF, 67 KB

english, 2016

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