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Items: 1 to 20 of 62

1.

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Tonin R, Caciotti A, Funghini S, Pasquini E, Mooney SD, Cai B, Proncopio E, Donati MA, Baronio F, Bettocchi I, Cassio A, Biasucci G, Bordugo A, la Marca G, Guerrini R, Morrone A.

BBA Clin. 2016 Mar 10;5:114-9. doi: 10.1016/j.bbacli.2016.03.004. eCollection 2016 Jun.

2.

USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.

Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J.

Pac Symp Biocomput. 2016;21:568-75.

3.

PRECISION MEDICINE: DATA AND DISCOVERY FOR IMPROVED HEALTH AND THERAPY.

Morgan AA, Mooney SD, Aronow BJ, Brenner SE.

Pac Symp Biocomput. 2016;21:243-8.

4.

Genomic Analysis Reveals Disruption of Striatal Neuronal Development and Therapeutic Targets in Human Huntington's Disease Neural Stem Cells.

Ring KL, An MC, Zhang N, O'Brien RN, Ramos EM, Gao F, Atwood R, Bailus BJ, Melov S, Mooney SD, Coppola G, Ellerby LM.

Stem Cell Reports. 2015 Dec 8;5(6):1023-38. doi: 10.1016/j.stemcr.2015.11.005.

5.

Intrinsic Size Parameters for Palmitoylated and Carboxyamidomethylated Peptides.

Li Z, Dilger JM, Pejaver V, Smiley D, Arnold RJ, Mooney SD, Mukhopadhyay S, Radivojac P, Clemmer DE.

Int J Mass Spectrom. 2014 Jul 15;368:6-14.

6.

Ten simple rules for a community computational challenge.

Friedberg I, Wass MN, Mooney SD, Radivojac P.

PLoS Comput Biol. 2015 Apr 23;11(4):e1004150. doi: 10.1371/journal.pcbi.1004150. eCollection 2015 Apr. No abstract available.

7.

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.

Tonin R, Caciotti A, Funghini S, la Marca G, Pasquini E, Cayton E, Mooney SD, Guerrini R, Morrone A.

Clin Chim Acta. 2015 May 20;445:70-2. doi: 10.1016/j.cca.2015.03.010. Epub 2015 Mar 18.

PMID:
25795614
8.

Germline & somatic mosaicism: the 2014 annual scientific meeting of the Human Genome Variation Society.

Oetting WS, Greenblatt MS, Brookes AJ, Karchin R, Mooney SD.

Hum Mutat. 2015 Mar;36(3):390-3. doi: 10.1002/humu.22757. No abstract available.

PMID:
25597405
9.

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A.

Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751.

PMID:
25545067
10.

Progress towards the integration of pharmacogenomics in practice.

Mooney SD.

Hum Genet. 2015 May;134(5):459-65. doi: 10.1007/s00439-014-1484-7. Epub 2014 Sep 11. Review.

PMID:
25238897
11.

In silico comparative characterization of pharmacogenomic missense variants.

Li B, Seligman C, Thusberg J, Miller JL, Auer J, Whirl-Carrillo M, Capriotti E, Klein TE, Mooney SD.

BMC Genomics. 2014;15 Suppl 4:S4. doi: 10.1186/1471-2164-15-S4-S4. Epub 2014 May 20.

12.

The automated function prediction SIG looks back at 2013 and prepares for 2014.

Wass MN, Mooney SD, Linial M, Radivojac P, Friedberg I.

Bioinformatics. 2014 Jul 15;30(14):2091-2. doi: 10.1093/bioinformatics/btu117. Epub 2014 Mar 3. No abstract available.

13.

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M, Sterne-Weiler T, Li B, Ball EV, Cooper DN, Radivojac P, Sanford JR, Mooney SD.

Genome Biol. 2014 Jan 13;15(1):R19. doi: 10.1186/gb-2014-15-1-r19.

14.

A large scale Huntingtin protein interaction network implicates Rho GTPase signaling pathways in Huntington disease.

Tourette C, Li B, Bell R, O'Hare S, Kaltenbach LS, Mooney SD, Hughes RE.

J Biol Chem. 2014 Mar 7;289(10):6709-26. doi: 10.1074/jbc.M113.523696. Epub 2014 Jan 9.

15.

Genome-wide DNA methylation changes with age in disease-free human skeletal muscle.

Zykovich A, Hubbard A, Flynn JM, Tarnopolsky M, Fraga MF, Kerksick C, Ogborn D, MacNeil L, Mooney SD, Melov S.

Aging Cell. 2014 Apr;13(2):360-6. doi: 10.1111/acel.12180. Epub 2013 Dec 2.

16.

Genome and proteome annotation using automatically recognized concepts and functional networks.

Bivol A, Wittkop T, Davis D, Mooney SD.

AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:26. eCollection 2013.

PMID:
24303290
17.

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A.

ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013.

18.

Reply to Brook et al: No empirical evidence for human overkill of megafauna in Sahul.

Wroe S, Field JH, Archer M, Grayson DK, Price GJ, Louys J, Faith JT, Webb GE, Davidson I, Mooney SD.

Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):E3369. No abstract available.

19.

Late-life rapamycin treatment reverses age-related heart dysfunction.

Flynn JM, O'Leary MN, Zambataro CA, Academia EC, Presley MP, Garrett BJ, Zykovich A, Mooney SD, Strong R, Rosen CJ, Kapahi P, Nelson MD, Kennedy BK, Melov S.

Aging Cell. 2013 Oct;12(5):851-62. doi: 10.1111/acel.12109. Epub 2013 Jul 7.

20.

Climate change frames debate over the extinction of megafauna in Sahul (Pleistocene Australia-New Guinea).

Wroe S, Field JH, Archer M, Grayson DK, Price GJ, Louys J, Faith JT, Webb GE, Davidson I, Mooney SD.

Proc Natl Acad Sci U S A. 2013 May 28;110(22):8777-81. doi: 10.1073/pnas.1302698110. Epub 2013 May 6.

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