Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Genetic variants regulating immune cell levels in health and disease.
Cell
; 155(1): 242-56, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24074872
3.
The individual and global impact of copy-number variants on complex human traits.
Am J Hum Genet
; 109(4): 647-668, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240056
4.
BEYOND: a randomized controlled trial comparing efficacy and safety of individualized follitropin delta dosing in a GnRH agonist versus antagonist protocol during the first ovarian stimulation cycle.
Hum Reprod
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723189
5.
Genome-wide association study of circulating interleukin 6 levels identifies novel loci.
Hum Mol Genet
; 30(5): 393-409, 2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517400
6.
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Am J Hum Genet
; 105(5): 947-958, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668704
7.
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Mult Scler
; 27(9): 1332-1340, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33566725
8.
High-security closed devices are efficient and safe to protect human oocytes from potential risk of viral contamination during vitrification and storage especially in the COVID-19 pandemic.
J Assist Reprod Genet
; 38(3): 681-688, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432422
9.
Overexpression of the Cytokine BAFF and Autoimmunity Risk.
N Engl J Med
; 376(17): 1615-1626, 2017 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28445677
10.
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Nature
; 514(7520): 92-97, 2014 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231870
11.
Impact of BRCA1 and BRCA2 mutations on ovarian reserve and fertility preservation outcomes in young women with breast cancer.
J Assist Reprod Genet
; 37(3): 709-715, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872386
12.
Seventy-five genetic loci influencing the human red blood cell.
Nature
; 492(7429): 369-75, 2012 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23222517
13.
New gene functions in megakaryopoiesis and platelet formation.
Nature
; 480(7376): 201-8, 2011 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139419
14.
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
PLoS Genet
; 10(2): e1004123, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24586183
15.
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
PLoS Genet
; 9(2): e1003266, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23408906
16.
The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease.
Clin Endocrinol (Oxf)
; 83(4): 556-62, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25345847
17.
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
BMC Cancer
; 15: 383, 2015 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25956309
18.
The burden of multiple sclerosis variants in continental Italians and Sardinians.
Mult Scler
; 21(11): 1385-95, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438306
19.
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
PLoS Genet
; 8(1): e1002480, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22291609
20.
DNA methylation may partly explain psychotropic drug-induced metabolic side effects: results from a prospective 1-month observational study.
Clin Epigenetics
; 16(1): 36, 2024 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419113