Detalhe da pesquisa
1.
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Am J Med Genet B Neuropsychiatr Genet
; 183(5): 268-276, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32372567
2.
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.
Ann Neurol
; 84(2): 234-245, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014611
3.
A single nucleotide polymorphism in the dimethylarginine dimethylaminohydrolase gene is associated with lower risk of pulmonary hypertension in bronchopulmonary dysplasia.
Acta Paediatr
; 105(4): e170-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663142
4.
Cell responses only partially shape cell-to-cell variations in protein abundances in Escherichia coli chemotaxis.
Proc Natl Acad Sci U S A
; 110(46): 18531-6, 2013 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24167288
5.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nat Genet
; 39(3): 319-28, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17322880
6.
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Hum Genet
; 134(2): 191-201, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25432440
7.
Evidence, temperature, and the laws of thermodynamics.
Hum Hered
; 78(3-4): 153-63, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25358903
8.
The value of regenotyping older linkage data sets with denser marker panels.
Hum Hered
; 78(1): 9-16, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24969307
9.
Host-to-host variation of ecological interactions in polymicrobial infections.
Phys Biol
; 12(1): 016003, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25473880
10.
Data-driven quantification of the robustness and sensitivity of cell signaling networks.
Phys Biol
; 10(6): 066002, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24164951
11.
The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.
PLoS One
; 18(9): e0290336, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37733810
12.
A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.
Eur J Hum Genet
; 31(6): 663-673, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36935420
13.
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
J Med Genet
; 48(1): 48-54, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972252
14.
15.
KELVIN: a software package for rigorous measurement of statistical evidence in human genetics.
Hum Hered
; 72(4): 276-88, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22189470
16.
Association statistics under the PPL framework.
Genet Epidemiol
; 34(8): 835-45, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21058335
17.
A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications.
Am J Hum Genet
; 82(6): 1349-56, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18485327
18.
Expected monotonicity--a desirable property for evidence measures?
Hum Hered
; 70(3): 151-66, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20664208
19.
The PPLD has advantages over conventional regression methods in application to moderately sized genome-wide association studies.
PLoS One
; 16(9): e0257164, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34550985
20.
A new linear regression-like residual for survival analysis, with application to genome wide association studies of time-to-event data.
PLoS One
; 15(5): e0232300, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32365095