Author details

Full Name

Renata Pellegrino

Affiliation

ORCID

Career Start Year

2010

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36746925	Alterations in microRNA of extracellular vesicles associated with major depression, attention-deficit/hyperactivity and anxiety disorders in adolescents.	Transl Psychiatry	2023
37572794	Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.	J Hepatol	2023
36653407	Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.	Sci Rep	2023
36897941	Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.	Sci Adv	2023
37264205	Genomic profiling informs diagnoses and treatment in vascular anomalies.	Nat Med	2023
35171267	Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap.	Rheumatology (Oxford)	2022
35396580	Mapping genomic loci implicates genes and synaptic biology in schizophrenia.	Nature	2022
35830813	Single-cell atlas of craniogenesis uncovers SOXC-dependent, highly proliferative, and myofibroblast-like osteodermal progenitors.	Cell Reports	2022
36553675	Association of Inherited Copy Number Variation in and Pseudogenes with Oropharynx Cancer Risk and Outcome.		2022
34499218	Effect of micro-osteoperforations on the gene expression profile of the periodontal ligament of orthodontically moved human teeth.	Clin Oral Investig	2022
33435319	Comprehensive Assessment of Copy Number Alterations Uncovers Recurrent <i>AIFM3</i> and <i>DLK1</i> Copy Gain in Medullary Thyroid Carcinoma.	Cancers (Basel)	2021
33597301	SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation.	Proceedings of the National Academy of Sciences of the United States of America	2021
32966340	Autophagy mitigates ethanol-induced mitochondrial dysfunction and oxidative stress in esophageal keratinocytes.	PLoS One	2020
31845634	Are serum brain-derived neurotrophic factor concentrations related to brain structure and psychopathology in late childhood and early adolescence?	CNS Spectr	2020
32352843	Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes.	DNA Cell Biol	2020
30716596	Effects of the interaction between genetic factors and maltreatment on child and adolescent psychiatric disorders.	Psychiatry Res	2019
31639064	Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths.	Clin Epigenetics	2019
31811119	LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.	Nat Commun	2019
30057097	Implications of an admixed Brazilian population in schizophrenia polygenic risk score.	Schizophr Res	2019
30617166	Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.	Neurology	2019
30923314	Gene expression over the course of schizophrenia: from clinical high-risk for psychosis to chronic stages.	NPJ Schizophr	2019
30901624	DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.	Psychiatry Res	2019
31350437	Genetic comparison of sickle cell anaemia cohorts from Brazil andÂ the United States reveals high levels of divergence.	Sci Rep	2019
29288952	Effects of the brain-derived neurotropic factor variant Val66Met on cortical structure in late childhood and early adolescence.	J Psychiatr Res	2018
30266756	Common variants at 5q33.1 predispose to migraine in African-American children.	J Med Genet	2018
29905864	Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.	Hum Mol Genet	2018
29269196	Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).	J Pediatr	2018
29130604	Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.	Am J Med Genet A	2018
27817035	Copy number variation analysis reveals additional variants contributing to endometriosis development.	J Assist Reprod Genet	2017
28502727	Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.	J Mol Diagn	2017
28323927	Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.	J Clin Endocrinol Metab	2017
27650317	Identification of molecular markers for oocyte competence in bovine cumulus cells.	Animal Genetics	2017
28150392	Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.	Hum Mutat	2017
26851141	Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.	Schizophr Res	2016
27216920	Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.	Sci Rep	2016
26947246	An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.	Sci Rep	2016
27486013	A current snapshot of common genomic variants contribution in psychiatric disorders.	Am J Med Genet B Neuropsychiatr Genet	2016
26197217	Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.	PLoS One	2015
26188062	Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.	J Immunol	2015
26292654	CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.	Sci Rep	2015
24601688	Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.	J Clin Endocrinol Metab	2014
24467814	Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.	Mol Autism	2014
24950194	Gene expression in B-1 cells from lupus-prone mice.	Immunological Investigations	2014
24927284	The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.	Nat Commun	2014
25083013	A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.	Sleep	2014
23721503	Sleep is not just for the brain: transcriptional responses to sleep in peripheral tissues.	BMC Genomics	2013
23341896	Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.	PLoS One	2013
23419840	Candidate genes for schizophrenia in a mixed Brazilian population using pooled DNA.	Psychiatry Res	2013
23731774	Crosstalk between B16 melanoma cells and B-1 lymphocytes induces global changes in tumor cell gene expression.	Immunobiology	2013
22947657	Whole blood genome-wide gene expression profile in males after prolonged wakefulness and sleep recovery.	Physiol Genomics	2012