Author details

Full Name

Joannella Morales

Affiliation

ORCID

Career Start Year

1995

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35388217	A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.	Nature	2022
34435752	The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.	Mol Genet Genomic Med	2021
34022131	Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.	Am J Hum Genet	2021
31691826	Ensembl 2020.	Nucleic Acids Res	2020
31179617	Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.	J Thromb Haemost	2019
30407521	Ensembl 2019.	Nucleic Acids Res	2019
30445434	The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.	Nucleic Acids Res	2019
30206421	IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.	Genet Med	2019
30279470	Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.	Genet Med	2019
27911167	Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.	Epigenetics	2018
29448949	A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.	Genome Biol	2018
27899670	The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).	Nucleic Acids Res	2017
24285302	Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.	Nucleic Acids Res	2014
24316577	The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.	Nucleic Acids Res	2014
18842880	The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior.	J Neurosci	2008
12086643	Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain.	Neuron	2002
9651231	Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation.	Journal of Neuroscience	1998
9255516	Identification of developmentally regulated sea urchin U5 snRNA genes.	DNA Sequence - Journal of DNA Sequencing and Mapping	1997
9056547	Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.	Am J Med Genet	1997
8530355	Efficient plasmid DNA replication in Xenopus egg extracts does not depend on prior chromatin assembly.	Journal of Biological Chemistry	1995