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Author Details

Naiara Akizu
University of Pennsylvania
2010
24
16
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
36897941Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sci Adv2023
37425875High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.bioRxiv2023
37433783Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Nat Commun2023
33147489Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis.Cell Stem Cell2020
30178464Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.Ann Neurol2018
28092684Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.Nat Genet2017
27248655EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21.Open Biol2016
28090544EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal.Neurogenesis (Austin)2016
26005868Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.Nat Genet2015
25848753Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet2015
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24853677Regulation of CBP and Tip60 coordinates histone acetylation at local and global levels during Ras-induced transformation.Carcinogenesis2014
24657916An increase in MECP2 dosage impairs neural tube formation.Neurobiol Dis2014
24360807Mutations in CSPP1 lead to classical Joubert syndrome.Am J Hum Genet2014
23243002RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase.Mol Biol Cell2013
23911318AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.Cell2013
23453666Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Am J Hum Genet2013
22822038Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.Brain2012
22700954Exome sequencing can improve diagnosis and alter patient management.Sci Transl Med2012
22782721Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program.Development2012
21962508Modeling human disease in humans: the ciliopathies.Cell2011
20160474Characterization of structural variability sheds light on the specificity determinants of the interaction between effector domains and histone tails.Epigenetics2010
20667911H3K27me3 regulates BMP activity in developing spinal cord.Development2010
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Collaborators

Joseph G Gleeson
University of California
Co-authored papers 10
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 10
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 9
Rasim O Rosti
University of Virginia
Co-authored papers 8
Jennifer L Silhavy
University of California
Co-authored papers 7
Jana Schroth
University of California
Co-authored papers 7
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Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 7
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Yale School of Medicine
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Basak Rosti
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 5
Tawfeg Ben-Omran
Hamad Medical Corporation.
Co-authored papers 5
Emily G Spencer
Scripps Research Translational Institute
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Keith K Vaux
university of california san diego Health Physician Network
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Ali G Fenstermaker
Howard Hughes Medical Institute, University of California
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Ahmet Okay Caglayan
Yale School of Medicine
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Majdi Kara
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Margaret Harr
Center for Applied Genomics, Children's Hospital of Philadelphia
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Gaia Novarino
Institute of Science and Technology Austria (ISTA)
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Brett Copeland
University of California
Co-authored papers 3
Matloob Azam
Wah Medical College
Co-authored papers 3
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 3
H??lya Kayserili
Istanbul University
Co-authored papers 3
Laila Selim
Cairo University
Co-authored papers 3
Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3
Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
Deborah L French
Co-authored papers 2
Siddharth Banka
University of Manchester
Co-authored papers 2
Elizabeth Nickerson
The Broad Institute of Harvard and MIT
Co-authored papers 2
Elaine H Zackai
Children's Hospital of Philadelphia
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Faezeh Mojahedi
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