Volume 33; Issue 5

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Human Mutation
Volume 33; Issue 5

Human Mutation

Volume 33; Issue 5

1

The androgen receptor gene mutations database: 2012 update

Bruce Gottlieb, Lenore K. Beitel, Abbesha Nadarajah, Miltiadis Paliouras, Mark Trifiro

Journal:

Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

2

MouseFinder: Candidate disease genes from mouse phenotype data

Chao-Kung Chen, Christopher J. Mungall, Georgios V. Gkoutos, Sandra C. Doelken, Sebastian Köhler, Barbara J. Ruef, Cynthia Smith, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis, Paul N. Schofi

Journal:

Year:

2012

Language:

english

File:

PDF, 517 KB

english, 2012

3

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening

Raffaele Palmirotta, Maria Laura De Marchis, Giorgia Ludovici, Barbara Leone, Maria Giovanna Valente, Jhessica Alessandroni, Antonella Spila, David Della-Morte, Fiorella Guadagni

Journal:

Year:

2012

Language:

english

File:

PDF, 245 KB

english, 2012

4

Next-generation sequencing demands next-generation phenotyping

Raoul C.M. Hennekam, Leslie G. Biesecker

Journal:

Year:

2012

Language:

english

File:

PDF, 116 KB

english, 2012

5

Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

Erin Rooney Riggs, Laird Jackson, David T. Miller, Steven Van Vooren

Journal:

Year:

2012

Language:

english

File:

PDF, 265 KB

english, 2012

6

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions

John C. Carey, Judith E. Allanson, Raoul C.M. Hennekam, Leslie G. Biesecker

Journal:

Year:

2012

Language:

english

File:

PDF, 410 KB

english, 2012

7

Large-scale objective phenotyping of 3D facial morphology

Peter Hammond, Michael Suttie

Journal:

Year:

2012

Language:

english

File:

PDF, 498 KB

english, 2012

8

Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer

Ziad Kanaan, Shesh N. Rai, M. Robert Eichenberger, Christopher Barnes, Amy M. Dworkin, Clayton Weller, Eric Cohen, Henry Roberts, Bobby Keskey, Robert E. Petras, Nigel P.S. Crawford, Susan Galandiuk

Journal:

Year:

2012

Language:

english

File:

PDF, 77 KB

english, 2012

9

A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar, Fergus J. Couch

Journal:

Year:

2012

Language:

english

File:

PDF, 107 KB

english, 2012

10

ApiNATOMY: A novel toolkit for visualizing multiscale anatomy schematics with phenotype-related information

Bernard de Bono, Pierre Grenon, Stephen John Sammut

Journal:

Year:

2012

Language:

english

File:

PDF, 1.10 MB

english, 2012

11

Knowledge engineering for health: A new discipline required to bridge the “ICT gap” between research and healthcare

Tim Beck, Sirisha Gollapudi, Søren Brunak, Norbert Graf, Heinz U. Lemke, Debasis Dash, Iain Buchan, Carlos Díaz, Ferran Sanz, Anthony J. Brookes

Journal:

Year:

2012

Language:

english

File:

PDF, 322 KB

english, 2012

12

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

Hannah Boulding, Caleb Webber

Journal:

Year:

2012

Language:

english

File:

PDF, 405 KB

english, 2012

13

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

Tomasz Adamusiak, Helen Parkinson, Juha Muilu, Erik Roos, Kasper Joeri van der Velde, Gudmundur A. Thorisson, Myles Byrne, Chao Pang, Sirisha Gollapudi, Vincent Ferretti, Hans Hillege, Anthony J. Broo

Journal:

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

14

Back to the future: From genome to metabolome

Joseph V. Thakuria, Alexander W. Zaranek, George M. Church, Gerard T. Berry

Journal:

Year:

2012

Language:

english

File:

PDF, 214 KB

english, 2012

15

Using PhenX measures to identify opportunities for cross-study analysis

Huaqin Pan, Kimberly A. Tryka, Daniel J. Vreeman, Wayne Huggins, Michael J. Phillips, Jayashri P. Mehta, Jacqueline H. Phillips, Clement J. McDonald, Heather A. Junkins, Erin M. Ramos, Carol M. Hamilt

Journal:

Year:

2012

Language:

english

File:

PDF, 452 KB

english, 2012

16

Mouse genetic and phenotypic resources for human genetics

Paul N. Schofield, Robert Hoehndorf, Georgios V. Gkoutos

Journal:

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

17

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

Ana Rath, Annie Olry, Ferdinand Dhombres, Maja Miličić Brandt, Bruno Urbero, Segolene Ayme

Journal:

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

18

Integration of global resources for human genetic variation and disease

Paul N. Schofield, John M. Hancock

Journal:

Year:

2012

Language:

english

File:

PDF, 120 KB

english, 2012

19

Deep phenotyping for precision medicine

Peter N. Robinson

Journal:

Year:

2012

Language:

english

File:

PDF, 135 KB

english, 2012

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