Volume 37; Issue 6

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Human Mutation
Volume 37; Issue 6

Human Mutation

Volume 37; Issue 6

1

What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases

Tack, Véronique, Deans, Zandra C., Wolstenholme, Nicola, Patton, Simon, Dequeker, Elisabeth M. C.

Journal:

Year:

2016

Language:

english

File:

PDF, 148 KB

english, 2016

2

Genetics of Phenylketonuria: Then and Now

Journal:

Year:

2016

Language:

english

File:

PDF, 535 KB

english, 2016

3

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

den Dunnen, Johan T., Dalgleish, Raymond, Maglott, Donna R., Hart, Reece K., Greenblatt, Marc S., McGowan-Jordan, Jean, Roux, Anne-Francoise, Smith, Timothy, Antonarakis, Stylianos E., Taschner, Peter

Journal:

Year:

2016

Language:

english

File:

PDF, 182 KB

english, 2016

4

Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton

Journal:

Year:

2016

Language:

english

File:

PDF, 1.23 MB

english, 2016

5

25 Years of Human Mutation

Cutting, Garry R., Kazazian, Haig H.

Journal:

Year:

2016

Language:

english

File:

PDF, 102 KB

english, 2016

6

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Bean, Lora J.H., Hegde, Madhuri R.

Journal:

Year:

2016

Language:

english

File:

PDF, 228 KB

english, 2016

7

Variation Interpretation Predictors: Principles, Types, Performance, and Choice

Niroula, Abhishek, Vihinen, Mauno

Journal:

Year:

2016

Language:

english

File:

PDF, 802 KB

english, 2016

8

Cover Image, Volume 37, Issue 6

Journal:

Year:

2016

File:

PDF, 753 KB

2016

9

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Shen, Lishuang, Diroma, Maria Angela, Gonzalez, Michael, Navarro-Gomez, Daniel, Leipzig, Jeremy, Lott, Marie T., van Oven, Mannis, Wallace, Douglas C., Muraresku, Colleen Clarke, Zolkipli-Cunningham,

Journal:

Year:

2016

Language:

english

File:

PDF, 343 KB

english, 2016

10

HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme

Deans, Zandra C., Fairley, Jennifer A., den Dunnen, Johan T, Clark, Caroline

Journal:

Year:

2016

Language:

english

File:

PDF, 333 KB

english, 2016

11

LSDBs and How They Have Evolved

Dalgleish, Raymond

Journal:

Year:

2016

Language:

english

File:

PDF, 185 KB

english, 2016

12

Issue Information

Journal:

Year:

2016

Language:

english

File:

PDF, 455 KB

english, 2016

13

Human Variome Project Quality Assessment Criteria for Variation Databases

Vihinen, Mauno, Hancock, John M., Maglott, Donna R., Landrum, Melissa J., Schaafsma, Gerard C. P., Taschner, Peter

Journal:

Year:

2016

Language:

english

File:

PDF, 430 KB

english, 2016

14

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

Abulí, Anna, Boada, Montserrat, Rodríguez-Santiago, Benjamín, Coroleu, Buenaventura, Veiga, Anna, Armengol, Lluís, Barri, Pedro N., Pérez-Jurado, Luis A., Estivill, Xavier

Journal:

Year:

2016

Language:

english

File:

PDF, 404 KB

english, 2016

15

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

Verstraeten, Aline, Alaerts, Maaike, Van Laer, Lut, Loeys, Bart

Journal:

Year:

2016

Language:

english

File:

PDF, 441 KB

english, 2016

16

The Human Variome Project

Burn, John, Watson, Michael

Journal:

Year:

2016

Language:

english

File:

PDF, 169 KB

english, 2016