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Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

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Title: Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.
Authors: Buecking J; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Güler BE; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; These authors contributed equally., Eibl M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; These authors contributed equally., Ali AS; Division of Proteomics of Stem Cell and Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; These authors contributed equally., Walczuch T; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Beschauner T; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Research Institute of Molecular Pathology, Vienna, Austria., Theiss S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Spanjaard M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Herrmann-Sim F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Ludwig Maximilian University of Munich, Munich, Germany., de Esch CE; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Tai DJC; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Talkowski ME; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Krijgsveld J; Division of Proteomics of Stem Cell and Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Medical Faculty, Heidelberg University, Heidelberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Laugsch M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Lead contact.
Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 04. Date of Electronic Publication: 2026 May 04.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.
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  Data: <searchLink fieldCode="AU" term="%22Buecking+J%22">Buecking J</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Güler+BE%22">Güler BE</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Eibl+M%22">Eibl M</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Ali+AS%22">Ali AS</searchLink>; Division of Proteomics of Stem Cell and Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Walczuch+T%22">Walczuch T</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Beschauner+T%22">Beschauner T</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Research Institute of Molecular Pathology, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Theiss+S%22">Theiss S</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Spanjaard+M%22">Spanjaard M</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hinderhofer+K%22">Hinderhofer K</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Herrmann-Sim+F%22">Herrmann-Sim F</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Ludwig Maximilian University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22de+Esch+CE%22">de Esch CE</searchLink>; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Tai+DJC%22">Tai DJC</searchLink>; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Krijgsveld+J%22">Krijgsveld J</searchLink>; Division of Proteomics of Stem Cell and Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Medical Faculty, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schaaf+CP%22">Schaaf CP</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Laugsch+M%22">Laugsch M</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Lead contact.
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  Data: <searchLink fieldCode="JN" term="%22101680187%22">BioRxiv : the preprint server for biology</searchLink> [bioRxiv] 2026 May 04. <i>Date of Electronic Publication: </i>2026 May 04.
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              Text: 2026 May 04
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