Volume 37; Issue 7

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Human Mutation
Volume 37; Issue 7

Human Mutation

Volume 37; Issue 7

1

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

File:

PDF, 74 KB

2016

2

Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase

van Meel, Eline, Kornfeld, Stuart

Journal:

Year:

2016

Language:

english

File:

PDF, 630 KB

english, 2016

3

Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts

Yong, Rita Y.Y., Mustaffa, Su'Aidah B., Wasan, Pavandip S., Sheng, Liang, Marshall, Christian R., Scherer, Stephen W., Teo, Yik-Ying, Yap, Eric P.H.

Journal:

Year:

2016

Language:

english

File:

PDF, 779 KB

english, 2016

4

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

Filges, Isabel, Bruder, Elisabeth, Brandal, Kristin, Meier, Stephanie, Undlien, Dag Erik, Waage, Trine Rygvold, Hoesli, Irene, Schubach, Max, de Beer, Tjaart, Sheng, Ying, Hoeller, Sylvia, Schulzke, S

Journal:

Year:

2016

Language:

english

File:

PDF, 80 KB

english, 2016

5

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T

Journal:

Year:

2016

Language:

english

File:

PDF, 745 KB

english, 2016

6

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

Sancho-Vaello, Enea, Marco-Marín, Clara, Gougeard, Nadine, Fernández-Murga, Leonor, Rüfenacht, Véronique, Mustedanagic, Merima, Rubio, Vicente, Häberle, Johannes

Journal:

Year:

2016

Language:

english

File:

PDF, 2.58 MB

english, 2016

7

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

Caminsky, Natasha G., Mucaki, Eliseos J., Perri, Ami M., Lu, Ruipeng, Knoll, Joan H. M., Rogan, Peter K.

Journal:

Year:

2016

Language:

english

File:

PDF, 676 KB

english, 2016

8

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

Vallée, Maxime P., Di Sera, Tonya L., Nix, David A., Paquette, Andrew M., Parsons, Michael T., Bell, Russel, Hoffman, Andrea, Hogervorst, Frans B. L., Goldgar, David E., Spurdle, Amanda B., Tavtigian,

Journal:

Year:

2016

Language:

english

File:

PDF, 613 KB

english, 2016

9

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

McInerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher P., Anderson, Lisa K., Wheeler, La

Journal:

Year:

2016

Language:

english

File:

PDF, 513 KB

english, 2016

10

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

Masset, Heleen, Hestand, Matthew S., Van Esch, Hilde, Kleinfinger, Pascale, Plaisancié, Julie, Afenjar, Alexandra, Molignier, Romain, Schluth-Bolard, Caroline, Sanlaville, Damien, Vermeesch, Joris R.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.34 MB

english, 2016

11

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna,

Journal:

Year:

2016

Language:

english

File:

PDF, 999 KB

english, 2016

12

Issue Information

Journal:

Year:

2016

Language:

english

File:

PDF, 312 KB

english, 2016

13

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity

Thompson, Miles D., Cole, David E.

Journal:

Year:

2016

Language:

english

File:

PDF, 72 KB

english, 2016

14

Cover Image, Volume 37, Issue 7

Journal:

Year:

2016

File:

PDF, 432 KB

2016