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Joannella Morales

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
2018 · Annalisa Buniello, Jacqueline A L MacArthur, et al. · Nucleic Acids Research · 4,001
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The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
2013 · Danielle Welter, Jacqueline MacArthur, et al. · Nucleic Acids Research · 2,707
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The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
2016 · Jacqueline MacArthur, Emily Bowler, et al. · Nucleic Acids Research · 2,155
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Ensembl 2020
2019 · Andrew D Yates, Premanand Achuthan, et al. · Nucleic Acids Research · 1,155
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Ensembl 2019
2018 · Fiona Cunningham, Premanand Achuthan, et al. · Nucleic Acids Research · 925
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A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
2022 · Joannella Morales, Shashikant Pujar, et al. · Nature · 572
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The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
2024 · Maria Cerezo, Elliot Sollis, et al. · Nucleic Acids Research · 436
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Drosophila Fragile X Protein, DFXR, Regulates Neuronal Morphology and Function in the Brain
2002 · Joannella Morales, P.Robin Hiesinger, et al. · Neuron · 238
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A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
2018 · Joannella Morales, Danielle Welter, et al. · Genome biology · 217
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
2016 · David Monk, Joannella Morales, et al. · Epigenetics · 112
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Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
2019 · Karyn Megy, Kate Downes, et al. · Journal of Thrombosis and Haemostasis · 99
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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
2013 · Jacqueline A. L. MacArthur, Joannella Morales, et al. · Nucleic Acids Research · 75
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
2021 · Caroline F. Wright, Nicholas M. Quaife, et al. · The American Journal of Human Genetics · 74
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
2024 · Erica F. Andersen, Danielle R. Azzariti, et al. · Genetics in Medicine · 72
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2018 · Cyril Mignot, Aoife C. McMahon, et al. · Genetics in Medicine · 62
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Whole-genome sequencing of patients with rare diseases in a national health system
2021 · Ernest Turro, William J Astle, et al. · Yearbook of pediatric endocrinology · 44
TheDrosophilaFMRP and LARK RNA-Binding Proteins Function Together to Regulate Eye Development and Circadian Behavior
2008 · Oyinkan Sofola, Vasudha Sundram, et al. · Journal of Neuroscience · 34
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Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)
2025 · Li Gong, Clarissa J Klein, et al. · Clinical Chemistry · 19
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Identification of Developmentally Regulated Sea Urchin U5 snRNA Genes
1997 · Joannella Morales, Michelle Bokrero, et al. · DNA sequence · 9
Patterns of pharmacogenetic variation in nine biogeographic groups
2024 · Sophia Hernandez, Lucia A. Hindorff, et al. · Clinical and Translational Science · 7
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The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements
2021 · Joannella Morales, Aoife C. McMahon, et al. · Molecular Genetics & Genomic Medicine · 6
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A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
2017 · Joannella Morales, Emily H. Bowler, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 6
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Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
2025 · Alice B. Popejoy, Deborah I. Ritter, et al. · The American Journal of Human Genetics · 2
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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2018 · Cyril Mignot, Aoife C. McMahon, et al. · Genetics in Medicine · 2
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User-focused development of the NHGRI-EBI Genome-Wide Association Studies Catalog
2019 · Elliot Sollis, Annalisa Buniello, et al. · 1
Works count: 36
Citation count: 13,030
H-index: 18
I10-index: 18
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