Volume 34; Issue 9

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Human Mutation
Volume 34; Issue 9

Human Mutation

Volume 34; Issue 9

1

Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer

Nickerson, Michael L., Im, Kate M., Misner, Kevin J., Tan, Wei, Lou, Hong, Gold, Bert, Wells, David W., Bravo, Hector C., Fredrikson, Karin M., Harkins, Timothy T., Milos, Patrice, Zbar, Berton, Lineh

Journal:

Year:

2013

Language:

english

File:

PDF, 2.53 MB

english, 2013

2

HAPLOFIND: A New Method for High-Throughput mtDNA Haplogroup Assignment

Vianello, Dario, Sevini, Federica, Castellani, Gastone, Lomartire, Laura, Capri, Miriam, Franceschi, Claudio

Journal:

Year:

2013

Language:

english

File:

PDF, 733 KB

english, 2013

3

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

Cassa, Christopher A., Tong, Mark Y., Jordan, Daniel M.

Journal:

Year:

2013

Language:

english

File:

PDF, 472 KB

english, 2013

4

0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice

Srebniak, Malgorzata I., Mout, Lisanne, Van Opstal, Diane, Galjaard, Robert-Jan H.

Journal:

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

5

Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

Quadri, Marialuisa, Fang, Mingyan, Picillo, Marina, Olgiati, Simone, Breedveld, Guido J., Graafland, Josja, Wu, Bin, Xu, Fengping, Erro, Roberto, Amboni, Marianna, Pappatà, Sabina, Quarantelli, Mario,

Journal:

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

6

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

Liu, Xiaoming, Jian, Xueqiu, Boerwinkle, Eric

Journal:

Year:

2013

Language:

english

File:

PDF, 268 KB

english, 2013

7

Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing

Guilmatre, Audrey, Highnam, Gareth, Borel, Christelle, Mittelman, David, Sharp, Andrew J.

Journal:

Year:

2013

Language:

english

File:

PDF, 869 KB

english, 2013

8

Functional Interaction Between SNPs and Microsatellite in the Transcriptional Regulation of Insulin-Like Growth Factor 1

Chen, Holly Y., Huang, Wei, Leung, Vincent H. K., Fung, Simon L. M., Ma, Suk Ling, Jiang, Hongling, Tang, Nelson L. S.

Journal:

Year:

2013

Language:

english

File:

PDF, 925 KB

english, 2013

9

Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

Tan, Xiaohui, Anzick, Sarah L., Khan, Sikandar G., Ueda, Takahiro, Stone, Gary, DiGiovanna, John J., Tamura, Deborah, Wattendorf, Daniel, Busch, David, Brewer, Carmen C., Zalewski, Christopher, Butman

Journal:

Year:

2013

Language:

english

File:

PDF, 1.49 MB

english, 2013

10

The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

Krebs, Catharine E., Karkheiran, Siamak, Powell, James C., Cao, Mian, Makarov, Vladimir, Darvish, Hossein, Di Paolo, Gilbert, Walker, Ruth H., Shahidi, Gholam Ali, Buxbaum, Joseph D., De Camilli, Piet

Journal:

Year:

2013

Language:

english

File:

PDF, 459 KB

english, 2013

11

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

Bean, Lora J.H., Tinker, Stuart W., da Silva, Cristina, Hegde, Madhuri R.

Journal:

Year:

2013

Language:

english

File:

PDF, 460 KB

english, 2013

12

Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser-Winter Syndrome

Johnston, Jennifer J., Wen, Kuo-Kuang, Keppler-Noreuil, Kim, McKane, Melissa, Maiers, Jessica L., Greiner, Alexander, Sapp, Julie C., DeMali, Kris A., Rubenstein, Peter A., Biesecker, Leslie G.

Journal:

Year:

2013

Language:

english

File:

PDF, 997 KB

english, 2013

13

A Disruptive Paradigm of Genetic Data Sharing and Analysis

Cotton, Richard

Journal:

Year:

2013

Language:

english

File:

PDF, 82 KB

english, 2013

14

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Blakely, Emma L., Yarham, John W., Alston, Charlotte L., Craig, Kate, Poulton, Joanna, Brierley, Charlotte, Park, Soo-Mi, Dean, Andrew, Xuereb, John H., Anderson, Kirstie N., Compston, Alistair, Allen

Journal:

Year:

2013

Language:

english

File:

PDF, 707 KB

english, 2013

15

Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression

Keck, Mathilde, Andrini, Olga, Lahuna, Olivier, Burgos, Johanna, Cid, L. Pablo, Sepúlveda, Francisco V., L‘Hoste, Sébastien, Blanchard, Anne, Vargas-Poussou, Rosa, Lourdel, Stéphane, Teulon, Jacques

Journal:

Year:

2013

Language:

english

File:

PDF, 950 KB

english, 2013

16

Genetic Abnormalities in FOXP1 Are Associated with Congenital Heart Defects

Chang, Sheng-Wei, Mislankar, Mona, Misra, Chaitali, Huang, Nianyuan, DaJusta, Daniel G., Harrison, Steven M., McBride, Kim L., Baker, Linda A., Garg, Vidu

Journal:

Year:

2013

Language:

english

File:

PDF, 787 KB

english, 2013

17

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations

Barnes, Aileen M., Duncan, Geraldine, Weis, MaryAnn, Paton, William, Cabral, Wayne A., Mertz, Edward L., Makareeva, Elena, Gambello, Michael J., Lacbawan, Felicitas L., Leikin, Sergey, Fertala, Andrze

Journal:

Year:

2013

Language:

english

File:

PDF, 1.51 MB

english, 2013

18

Whole Exome Sequencing to Map the Genomic Evolution of Metastatic Prostate Cancer

Friedlander, Terence

Journal:

Year:

2013

Language:

english

File:

PDF, 82 KB

english, 2013

19

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18

Aldahmesh, Mohammed A., Alshammari, Muneera J., Khan, Arif O., Mohamed, Jawahir Y., Alhabib, Fatimah A., Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

20

Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome

Singh, Rajvir, Smith, Emily, Fathzadeh, Mohsen, Liu, Wenzhong, Go, Gwang-Woong, Subrahmanyan, Lakshman, Faramarzi, Saeed, McKenna, William, Mani, Arya

Journal:

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

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