Volume 36; Issue 12

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Human Mutation
Volume 36; Issue 12

Human Mutation

Volume 36; Issue 12

1

Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease

Dand, Nick, Schulz, Reiner, Weale, Michael E., Southgate, Laura, Oakey, Rebecca J., Simpson, Michael A., Schlitt, Thomas

Journal:

Year:

2015

Language:

english

File:

PDF, 669 KB

english, 2015

2

Serial Hunt for Ciliary Genes in Complex Syndromes

Journal:

Year:

2015

Language:

english

File:

PDF, 77 KB

english, 2015

3

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, An

Journal:

Year:

2015

Language:

english

File:

PDF, 230 KB

english, 2015

4

Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine

Chaitanya, Lakshmi, Ralf, Arwin, van Oven, Mannis, Kupiec, Tomasz, Chang, Joseph, Lagacé, Robert, Kayser, Manfred

Journal:

Year:

2015

Language:

english

File:

PDF, 777 KB

english, 2015

5

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

Hilger, Alina C., Halbritter, Jan, Pennimpede, Tracie, van der Ven, Amelie, Sarma, Georgia, Braun, Daniela A., Porath, Jonathan D., Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hermann, Bernh

Journal:

Year:

2015

Language:

english

File:

PDF, 361 KB

english, 2015

6

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Cacace, Rita, Van den Bossche, Tobi, Engelborghs, Sebastiaan, Geerts, Nathalie, Laureys, Annelies, Dillen, Lubina, Graff, Caroline, Thonberg, Håkan, Chiang, Huei-Hsin, Pastor, Pau, Ortega-Cubero, Sara

Journal:

Year:

2015

Language:

english

File:

PDF, 498 KB

english, 2015

7

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

Zanni, Ginevra, Kalscheuer, Vera M., Friedrich, Andreas, Barresi, Sabina, Alfieri, Paolo, Di Capua, Matteo, Haas, Stefan A., Piccini, Giorgia, Karl, Thomas, Klauck, Sabine M., Bellacchio, Emanuele, Em

Journal:

Year:

2015

Language:

english

File:

PDF, 396 KB

english, 2015

8

Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression

Zhang, Xibo, Qin, Gang, Chen, Guilan, Li, Tao, Gao, Linghan, Huang, Li, Zhang, Ying, Ouyang, Ke, Wang, Yuqi, Pang, Yu, Zeng, Bo, Yu, Ling

Journal:

Year:

2015

Language:

english

File:

PDF, 493 KB

english, 2015

9

Defects in tRNA Anticodon Loop 2′- O -Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

Guy, Michael P., Shaw, Marie, Weiner, Catherine L., Hobson, Lynne, Stark, Zornitza, Rose, Katherine, Kalscheuer, Vera M., Gecz, Jozef, Phizicky, Eric M.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.93 MB

english, 2015

10

Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants

Rodrigues, Carina, Santos-Silva, Alice, Costa, Elísio, Bronze-da-Rocha, Elsa

Journal:

Year:

2015

Language:

english

File:

PDF, 451 KB

english, 2015

11

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Micha, Dimitra, Guo, Dong-chuan, Hilhorst-Hofstee, Yvonne, van Kooten, Fop, Atmaja, Dian, Overwater, Eline, Cayami, Ferdy K., Regalado, Ellen S., van Uffelen, René, Venselaar, Hanka, Faradz, Sultana M

Journal:

Year:

2015

Language:

english

File:

PDF, 428 KB

english, 2015

12

Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion

Jung, Jinsei, Kim, Han Sang, Lee, Min Goo, Yang, Eun Jin, Choi, Jae Young

Journal:

Year:

2015

Language:

english

File:

PDF, 1006 KB

english, 2015

13

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks

Lee, Cindy, Banerjee, Tapahsama, Gillespie, Jessica, Ceravolo, Amanda, Parvinsmith, Matthew R., Starita, Lea M., Fields, Stanley, Toland, Amanda E., Parvin, Jeffrey D.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.27 MB

english, 2015

14

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Machado, Rajiv D., Southgate, Laura, Eichstaedt, Christina A., Aldred, Micheala A., Austin, Eric D., Best, D. Hunter, Chung, Wendy K., Benjamin, Nicola, Elliott, C. Gregory, Eyries, Mélanie, Fischer,

Journal:

Year:

2015

Language:

english

File:

PDF, 574 KB

english, 2015

15

GMPPB -Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Jensen, Braden S., Willer, Tobias, Saade, Dimah N., Cox, Mary O., Mozaffar, Tahseen, Scavina, Mena, Stefans, Vikki A., Winder, Thomas L., Campbell, Kevin P., Moore, Steven A., Mathews, Katherine D.

Journal:

Year:

2015

Language:

english

File:

PDF, 547 KB

english, 2015

16

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2

Niroula, Abhishek, Vihinen, Mauno

Journal:

Year:

2015

Language:

english

File:

PDF, 1004 KB

english, 2015

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