Joannella Morales

Joannella Morales

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Joannella Morales

Joannella Morales

Publications by authors named "Joannella Morales"

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.

Epigenetics 2018 25;13(2):117-121. Epub 2018 Jan 25.

i Applied Human Molecular Genetics, Kennedy Centre, Copenhagen University Hospital, Rigshospitalet , Glostrup , Denmark.

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http://dx.doi.org/10.1080/15592294.2016.1264561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873357PMC
December 2018

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.

Nucleic Acids Res 2014 Jan 26;42(Database issue):D873-8. Epub 2013 Nov 26.

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK, National Center for Biotechnology Information, Bethesda, MD 20894, USA, and Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkt1198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965024PMC
January 2014

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.

Nucleic Acids Res 2014 Jan 6;42(Database issue):D1001-6. Epub 2013 Dec 6.

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK, Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA and Division of Policy, Communication and Education, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://nar.oxfordjournals.org/content/42/D1/D1001.full.pdf
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http://nar.oxfordjournals.org/lookup/doi/10.1093/nar/gkt1229
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http://dx.doi.org/10.1093/nar/gkt1229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965119PMC
January 2014

Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain.

Neuron 2002 Jun;34(6):961-72

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/s0896-6273(02)00731-6DOI Listing
June 2002