Author details

Full Name

Elsa LeitÃ£o

Affiliation

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36726590	<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals.	Front Cell Dev Biol	2023
37467315	Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment.	Sci Transl Med	2023
37457636	Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.	Tremor Other Hyperkinet Mov (N Y)	2023
37386035	Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10.	NPJ Parkinsons Dis	2023
36568968	The different clinical facets of <i>SYN1</i>-related neurodevelopmental disorders.	Front Cell Dev Biol	2022
36323681	Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.	Nature Communications	2022
34419158	Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes.	Clinical Epigenetics	2021
33944996	Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.	Hum Genet	2021
34131132	Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritis.	Nat Commun	2021
32357829	wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data.	BMC Bioinformatics	2020
32375885	The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis.	Clinical Epigenetics	2020
31824749	Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.	Tremor Other Hyperkinet Mov (N Y)	2019
29524145	Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing.	Methods in Molecular Biology	2018
28747224	Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function.	Epigenetics Chromatin	2017
27478504	Epigenetic dynamics of monocyte-to-macrophage differentiation.	Epigenetics Chromatin	2016
24552813	Listeria monocytogenes induces host DNA damage and delays the host cell cycle to promote infection.	Cell Cycle	2014
21921683	The arsenal of virulence factors deployed by Listeria monocytogenes to promote its cell infection cycle.	Virulence	2011
19322831	Evidence of methanesulfonate utilizers in the Sargasso Sea metagenome.	Journal of Basic Microbiology	2009
17639348	Transcription and regulation of the hydrogenase(s) accessory genes, hypFCDEAB, in the cyanobacterium Lyngbya majuscula CCAP 1446/4.	Archives of Microbiology	2007
17903205	Cyanobacterial hydrogenases: diversity, regulation and applications.	FEMS Microbiology Reviews	2007
16085850	Analysis of the hupSL operon of the nonheterocystous cyanobacterium Lyngbya majuscula CCAP 1446/4: regulation of transcription and expression under a light-dark regimen.	Applied and Environmental Microbiology	2005
15667267	Uptake hydrogenase in cyanobacteria: novel input from non-heterocystous strains.	Biochemical Society Transactions	2005
14564521	Cyanobacterial H(2) production -- a comparative analysis.	Planta	2004
15528652	Characterization and transcriptional analysis of hupSLW in Gloeothece sp. ATCC 27152: an uptake hydrogenase from a unicellular cyanobacterium.	Microbiology (United Kingdom)	2004