Volume 37; Issue 3

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Human Mutation
Volume 37; Issue 3

Human Mutation

Volume 37; Issue 3

1

Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Mordaunt, Dylan A., Savarirayan, Ravi

Journal:

Year:

2016

File:

PDF, 73 KB

2016

2

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Campbell, Ian M., Gambin, Tomasz, Jhangiani, Shalini N., Grove, Megan L., Veeraraghavan, Narayanan, Muzny, Donna M., Shaw, Chad A., Gibbs, Richard A., Boerwinkle, Eric, Yu, Fuli, Lupski, James R.

Journal:

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

3

Microdeletions, Rearrangements, and Cancer Susceptibility

Hodgson, Shirley Victoria

Journal:

Year:

2016

Language:

english

File:

PDF, 67 KB

english, 2016

4

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Smith, Miriam J., Urquhart, Jill E., Harkness, Elaine F., Miles, Emma K., Bowers, Naomi L., Byers, Helen J., Bulman, Michael, Gokhale, Carolyn, Wallace, Andrew J., Newman, William G., Evans, D. Gareth

Journal:

Year:

2016

Language:

english

File:

PDF, 238 KB

english, 2016

5

Issue Information

Journal:

Year:

2016

Language:

english

File:

PDF, 337 KB

english, 2016

6

Cover Image, Volume 37, Issue 3

Journal:

Year:

2016

File:

PDF, 493 KB

2016

7

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa

Xu, Mingchu, Eblimit, Aiden, Wang, Jing, Li, Jianli, Wang, Feng, Zhao, Li, Wang, Xia, Xiao, Ningna, Li, Yumei, Wong, Lee-Jun C., Lewis, Richard A., Chen, Rui

Journal:

Year:

2016

Language:

english

File:

PDF, 323 KB

english, 2016

8

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos-Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu,

Journal:

Year:

2016

Language:

english

File:

PDF, 542 KB

english, 2016

9

Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients

Vautrot, Valentin, Aigueperse, Christelle, Oillo-Blanloeil, Florence, Hupont, Sébastien, Stevenin, James, Branlant, Christiane, Behm-Ansmant, Isabelle

Journal:

Year:

2016

Language:

english

File:

PDF, 1.24 MB

english, 2016

10

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child

Gatz, Susanne A., Salles, Daniela, Jacobsen, Eva-Maria, Dörk, Thilo, Rausch, Tobias, Aydin, Sevtap, Surowy, Harald, Volcic, Meta, Vogel, Walther, Debatin, Klaus-Michael, Stütz, Adrian M., Schwarz, Kla

Journal:

Year:

2016

Language:

english

File:

PDF, 1.03 MB

english, 2016

11

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of “ PIK3CA -Related Overgrowth Spectrum”

Di Donato, Nataliya, Rump, Andreas, Mirzaa, Ghayda M., Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B., O'Driscoll, Mark

Journal:

Year:

2016

Language:

english

File:

PDF, 505 KB

english, 2016

12

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

Brodehl, Andreas, Ferrier, Raechel A., Hamilton, Sara J., Greenway, Steven C., Brundler, Marie-Anne, Yu, Weiming, Gibson, William T., McKinnon, Margaret L., McGillivray, Barbara, Alvarez, Nanette, Giu

Journal:

Year:

2016

Language:

english

File:

PDF, 1.38 MB

english, 2016

13

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

Liu, Xiaoming, Wu, Chunlei, Li, Chang, Boerwinkle, Eric

Journal:

Year:

2016

Language:

english

File:

PDF, 539 KB

english, 2016

14

Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6

Qiao, Wanqiong, Yang, Yao, Sebra, Robert, Mendiratta, Geetu, Gaedigk, Andrea, Desnick, Robert J., Scott, Stuart A.

Journal:

Year:

2016

Language:

english

File:

PDF, 536 KB

english, 2016

15

Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease

Ghanbari, Mohsen, Darweesh, Sirwan K.L., de Looper, Hans W.J., van Luijn, Marvin M., Hofman, Albert, Ikram, M. Arfan, Franco, Oscar H., Erkeland, Stefan J., Dehghan, Abbas

Journal:

Year:

2016

Language:

english

File:

PDF, 624 KB

english, 2016

16

MESP1 Mutations in Patients with Congenital Heart Defects

Werner, Petra, Latney, Brande, Deardorff, Matthew A., Goldmuntz, Elizabeth

Journal:

Year:

2016

Language:

english

File:

PDF, 624 KB

english, 2016

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