User profiles for E. G. Serra

Eduardo Gonçalves Serra

Universidade Federal do Rio de Janeiro
Verified email at poli.ufrj.br
Cited by 117

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

…, S McCarthy, T Ahmad, C Edwards, EG Serra… - Nature …, 2017 - nature.com
To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative
colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low …

Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ

AK Nicholas, EG Serra, H Cangul… - The Journal of …, 2016 - academic.oup.com
… Detailed investigation of the contribution of oligogenicity to genotype-phenotype variability
mandates the study of large kindreds with a spectrum of genotypes, eg, F10 (Figure 5). In this …

[HTML][HTML] NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease

…, LA Denson, S Kugathasan, UG Knaus, EG Serra… - Mucosal …, 2018 - nature.com
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset
inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel …

[HTML][HTML] Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

…, S Barone, P Srichomkwun, H Iwayama, EG Serra… - JCI insight, 2018 - ncbi.nlm.nih.gov
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital
hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in …

[HTML][HTML] Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

EG Serra, T Schwerd, L Moutsianas… - Nature …, 2020 - nature.com
Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype
associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-…

DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

…, E Schoenmakers, G Lyons, S Langham, EG Serra… - Thyroid, 2019 - liebertpub.com
… This may reflect variable compensation by other thyroidal H 2 O 2 -producing enzymes (eg,
DUOX1), influence of other genetic variants affecting thyroid hormone biosynthesis, or …

[HTML][HTML] Construction of biodigesters to optimize the production of biogas from anaerobic co-digestion of food waste and sewage

CS Guimaraes, DRS Maia, EG Serra - Energies, 2018 - mdpi.com
The objective of this study was to build and develop anaerobic biodigesters for optimization
of biogas production using food waste (FW) and sewage (S) co-digestion from a wastewater …

Consequences of identifying XIAP deficiency in an adult patient with inflammatory bowel disease

M Quaranta, R Wilson, EG Serra, S Pandey… - …, 2018 - gastrojournal.org
Dear Editors: In some patients with extreme phenotypes of inflammatory bowel disease (IBD;
in particular in those with infantile or very early onset IBD with< 6 years of onset, …

Methods for assessing energy efficiency of buildings

EG Serra - Journal of Sustainable Development of Energy, Water …, 2019 - hrcak.srce.hr
This article analyzes the case of a Brazilian Institute of Higher Education, in relation to
compliance with a normative instruction, according to which all federal public buildings must …

The use of animal manure in the organic cultivation of Passiflora incarnata L. increases the content of phenolic compounds in the leaf and the antioxidant activity of …

AC Pacheco, LGT Feba, EG Serra, WHS Takata… - Organic Agriculture, 2021 - Springer
Organic cultivation of the medicinal species Passiflora incarnata L. is generally a
requirement of the herbal industries. However, there is little information about the nutritional …