Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-05

AUTHORS

Markus Zweier, Anaïs Begemann, Kirsty McWalter, Megan T. Cho, Lucia Abela, Siddharth Banka, Bettina Behring, Andrea Berger, Chester W. Brown, Maryline Carneiro, Jiani Chen, Gregory M. Cooper, Candice R. Finnila, Maria J. Guillen Sacoto, Alex Henderson, Ulrike Hüffmeier, Pascal Joset, Bronwyn Kerr, Gaetan Lesca, Gloria S. Leszinski, John Henry McDermott, Meira R. Meltzer, Kristin G. Monaghan, Roya Mostafavi, Katrin Õunap, Barbara Plecko, Zöe Powis, Gabriela Purcarin, Tiia Reimand, Korbinian M. Riedhammer, John M. Schreiber, Deepa Sirsi, Klaas J. Wierenga, Monica H. Wojcik, Sorina M. Papuc, Katharina Steindl, Heinrich Sticht, Anita Rauch

ABSTRACT

CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. We here report 12 independent patients harboring a variety of de novo variants in CYFIP2 broadening the molecular and clinical spectrum of a novel CYFIP2-related neurodevelopmental disorder. Using trio whole-exome or -genome sequencing, we identified 12 independent patients carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia. We detected seven different missense variants, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)), and a splice donor variant in the last intron for which we showed exon skipping in the transcript. The latter is expected to escape nonsense-mediated mRNA decay resulting in a truncated protein. Despite the large spacing in the primary structure, the variants spatially cluster in the tertiary structure and are all predicted to weaken the interaction with WAVE1 or NCKAP1 of the actin polymerization regulating WRC-complex. Preliminary genotype-phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations. This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia. More... »

PAGES

1-13

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-018-0331-z

DOI

http://dx.doi.org/10.1038/s41431-018-0331-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111564739

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30664714


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Zurich", 
          "id": "https://www.grid.ac/institutes/grid.7400.3", 
          "name": [
            "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zweier", 
        "givenName": "Markus", 
        "id": "sg:person.01104673437.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104673437.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Zurich", 
          "id": "https://www.grid.ac/institutes/grid.7400.3", 
          "name": [
            "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland", 
            "Radiz\u2013Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Begemann", 
        "givenName": "Ana\u00efs", 
        "id": "sg:person.016111503203.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016111503203.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "OPKO Health (United States)", 
          "id": "https://www.grid.ac/institutes/grid.428467.b", 
          "name": [
            "GeneDx, Gaithersburg, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "McWalter", 
        "givenName": "Kirsty", 
        "id": "sg:person.01030772703.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030772703.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "OPKO Health (United States)", 
          "id": "https://www.grid.ac/institutes/grid.428467.b", 
          "name": [
            "GeneDx, Gaithersburg, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cho", 
        "givenName": "Megan T.", 
        "id": "sg:person.01025734411.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025734411.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Children's Hospital Zurich", 
          "id": "https://www.grid.ac/institutes/grid.412341.1", 
          "name": [
            "Radiz\u2013Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland", 
            "Division of Child Neurology, University Children\u2019s Hospital Zurich, Zurich, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Abela", 
        "givenName": "Lucia", 
        "id": "sg:person.01060212224.88", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060212224.88"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Manchester", 
          "id": "https://www.grid.ac/institutes/grid.5379.8", 
          "name": [
            "Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK", 
            "Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Banka", 
        "givenName": "Siddharth", 
        "id": "sg:person.01012264451.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012264451.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, Klinikum Nuremberg, Nuremberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Behring", 
        "givenName": "Bettina", 
        "id": "sg:person.013046453150.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013046453150.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Klinikum Weiden", 
          "id": "https://www.grid.ac/institutes/grid.459568.3", 
          "name": [
            "Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, Weiden, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Berger", 
        "givenName": "Andrea", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tennessee Health Science Center", 
          "id": "https://www.grid.ac/institutes/grid.267301.1", 
          "name": [
            "Le Bonheur Children\u2019s Hospital, Memphis, TN, USA", 
            "Division of Medical Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brown", 
        "givenName": "Chester W.", 
        "id": "sg:person.07771404222.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07771404222.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospices Civils de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413852.9", 
          "name": [
            "Department of Neuropediatrics, Lyon University Hospital, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Carneiro", 
        "givenName": "Maryline", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Oklahoma Health Sciences Center", 
          "id": "https://www.grid.ac/institutes/grid.266902.9", 
          "name": [
            "University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chen", 
        "givenName": "Jiani", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "HudsonAlpha Institute for Biotechnology", 
          "id": "https://www.grid.ac/institutes/grid.417691.c", 
          "name": [
            "HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cooper", 
        "givenName": "Gregory M.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "HudsonAlpha Institute for Biotechnology", 
          "id": "https://www.grid.ac/institutes/grid.417691.c", 
          "name": [
            "HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Finnila", 
        "givenName": "Candice R.", 
        "id": "sg:person.013675445522.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013675445522.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "OPKO Health (United States)", 
          "id": "https://www.grid.ac/institutes/grid.428467.b", 
          "name": [
            "GeneDx, Gaithersburg, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sacoto", 
        "givenName": "Maria J. Guillen", 
        "id": "sg:person.014345114425.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014345114425.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Newcastle upon Tyne Hospitals NHS Foundation Trust", 
          "id": "https://www.grid.ac/institutes/grid.420004.2", 
          "name": [
            "Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, NE1 3BZ, Newcastle upon Tyne, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Henderson", 
        "givenName": "Alex", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Erlangen-Nuremberg", 
          "id": "https://www.grid.ac/institutes/grid.5330.5", 
          "name": [
            "Institute of Human Genetics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg (FAU), Erlangen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "H\u00fcffmeier", 
        "givenName": "Ulrike", 
        "id": "sg:person.0740503023.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740503023.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Zurich", 
          "id": "https://www.grid.ac/institutes/grid.7400.3", 
          "name": [
            "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Joset", 
        "givenName": "Pascal", 
        "id": "sg:person.01131072112.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131072112.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Manchester", 
          "id": "https://www.grid.ac/institutes/grid.5379.8", 
          "name": [
            "Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK", 
            "Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kerr", 
        "givenName": "Bronwyn", 
        "id": "sg:person.01230201061.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230201061.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Lyon Neuroscience Research Center", 
          "id": "https://www.grid.ac/institutes/grid.461862.f", 
          "name": [
            "Department of Medical Genetics, Lyon University Hospital, Lyon, France", 
            "CNRS UMR 5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lesca", 
        "givenName": "Gaetan", 
        "id": "sg:person.015113012507.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015113012507.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leszinski", 
        "givenName": "Gloria S.", 
        "id": "sg:person.01050577725.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050577725.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "St Mary's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416523.7", 
          "name": [
            "Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "McDermott", 
        "givenName": "John Henry", 
        "id": "sg:person.01352175255.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352175255.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children\u2019s National Health System", 
          "id": "https://www.grid.ac/institutes/grid.239560.b", 
          "name": [
            "Children\u2019s National Health System, Washington, DC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Meltzer", 
        "givenName": "Meira R.", 
        "id": "sg:person.01324477774.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324477774.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "OPKO Health (United States)", 
          "id": "https://www.grid.ac/institutes/grid.428467.b", 
          "name": [
            "GeneDx, Gaithersburg, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Monaghan", 
        "givenName": "Kristin G.", 
        "id": "sg:person.01136306270.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136306270.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Le Bonheur Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413728.b", 
          "name": [
            "Le Bonheur Children\u2019s Hospital, Memphis, TN, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mostafavi", 
        "givenName": "Roya", 
        "id": "sg:person.014007757653.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014007757653.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Tartu University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412269.a", 
          "name": [
            "Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia", 
            "Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u00d5unap", 
        "givenName": "Katrin", 
        "id": "sg:person.01315013031.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315013031.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical University of Graz", 
          "id": "https://www.grid.ac/institutes/grid.11598.34", 
          "name": [
            "Radiz\u2013Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland", 
            "Division of Child Neurology, University Children\u2019s Hospital Zurich, Zurich, Switzerland", 
            "Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Plecko", 
        "givenName": "Barbara", 
        "id": "sg:person.01367500762.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367500762.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ambry Genetics (United States)", 
          "id": "https://www.grid.ac/institutes/grid.465138.d", 
          "name": [
            "Ambry Genetics, Aliso Viejo, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Powis", 
        "givenName": "Z\u00f6e", 
        "id": "sg:person.0762521143.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762521143.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Oklahoma Health Sciences Center", 
          "id": "https://www.grid.ac/institutes/grid.266902.9", 
          "name": [
            "University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Purcarin", 
        "givenName": "Gabriela", 
        "id": "sg:person.0664267072.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664267072.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tartu", 
          "id": "https://www.grid.ac/institutes/grid.10939.32", 
          "name": [
            "Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia", 
            "Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia", 
            "Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Reimand", 
        "givenName": "Tiia", 
        "id": "sg:person.01200564431.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200564431.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany", 
            "Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Riedhammer", 
        "givenName": "Korbinian M.", 
        "id": "sg:person.015215164753.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015215164753.94"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children\u2019s National Health System", 
          "id": "https://www.grid.ac/institutes/grid.239560.b", 
          "name": [
            "Children\u2019s National Health System, Washington, DC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schreiber", 
        "givenName": "John M.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The University of Texas Southwestern Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.267313.2", 
          "name": [
            "Department of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sirsi", 
        "givenName": "Deepa", 
        "id": "sg:person.0761516775.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761516775.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Mayo Clinic", 
          "id": "https://www.grid.ac/institutes/grid.417467.7", 
          "name": [
            "University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA", 
            "Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wierenga", 
        "givenName": "Klaas J.", 
        "id": "sg:person.01156612045.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156612045.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Broad Institute", 
          "id": "https://www.grid.ac/institutes/grid.66859.34", 
          "name": [
            "Broad Institute of MIT and Harvard, Cambridge, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wojcik", 
        "givenName": "Monica H.", 
        "id": "sg:person.012050724067.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012050724067.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institutul National Victor Babes", 
          "id": "https://www.grid.ac/institutes/grid.433858.1", 
          "name": [
            "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland", 
            "Victor Babes National Institute of Pathology, Bucharest, Romania"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Papuc", 
        "givenName": "Sorina M.", 
        "id": "sg:person.01335143205.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335143205.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Zurich", 
          "id": "https://www.grid.ac/institutes/grid.7400.3", 
          "name": [
            "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Steindl", 
        "givenName": "Katharina", 
        "id": "sg:person.0765202505.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765202505.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Erlangen-Nuremberg", 
          "id": "https://www.grid.ac/institutes/grid.5330.5", 
          "name": [
            "Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sticht", 
        "givenName": "Heinrich", 
        "id": "sg:person.01155165260.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155165260.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Swiss Federal Institute of Technology in Zurich", 
          "id": "https://www.grid.ac/institutes/grid.5801.c", 
          "name": [
            "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland", 
            "Radiz\u2013Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland", 
            "Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland", 
            "Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rauch", 
        "givenName": "Anita", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1111/j.1528-1167.2011.03170.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000895558"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.1091", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000960507", 
          "https://doi.org/10.1038/ng.1091"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2011.06.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002054390"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature12439", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003744287", 
          "https://doi.org/10.1038/nature12439"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature14135", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007784461", 
          "https://doi.org/10.1038/nature14135"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/jcc.20084", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008225564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3345/kjp.2016.59.11.s19", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009163730"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3390/ijms16024068", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017561718"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pgen.1003450", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019128894"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22844", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020371094"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nsb952", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020429132", 
          "https://doi.org/10.1038/nsb952"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nsb952", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020429132", 
          "https://doi.org/10.1038/nsb952"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature19057", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022281897", 
          "https://doi.org/10.1038/nature19057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddu595", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022429444"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jmb.2016.11.022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023335398"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jmb.2016.11.022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023335398"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jmb.2016.11.022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023335398"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ydbio.2010.05.512", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023754599"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1601-183x.2012.00768.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025308019"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.conb.2016.04.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026112142"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2014.154", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027316421", 
          "https://doi.org/10.1038/gim.2014.154"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jama.2014.14601", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035740594"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2013-3787", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035935424"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/aww205", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036147912"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev-genet-110410-132512", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036295228"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3389/fncel.2014.00081", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037108177"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.151231598", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037861759"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/tp.2014.16", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040634948", 
          "https://doi.org/10.1038/tp.2014.16"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2015.07.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041496970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2015.07.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041496970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw1129", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042970960"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/cm.20342", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046220919"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/1096-8628(20000717)93:2<107::aid-ajmg5>3.0.co;2-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046467785"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(12)61480-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046585463"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature09623", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046792367", 
          "https://doi.org/10.1038/nature09623"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature09623", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046792367", 
          "https://doi.org/10.1038/nature09623"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2788.2000.00270.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048115615"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2009.03.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048795148"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2013.11.048", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049066153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201649", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051466506", 
          "https://doi.org/10.1038/sj.ejhg.5201649"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201649", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051466506", 
          "https://doi.org/10.1038/sj.ejhg.5201649"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature13394", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052525502", 
          "https://doi.org/10.1038/nature13394"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2015.11.024", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053014970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2015.11.024", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053014970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/23262133.2016.1261653", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058421353"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature21062", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1074194641", 
          "https://doi.org/10.1038/nature21062"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2017-104521", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084608810"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-017-0433-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085532281", 
          "https://doi.org/10.1186/s13073-017-0433-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-017-0433-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085532281", 
          "https://doi.org/10.1186/s13073-017-0433-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-017-0433-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085532281", 
          "https://doi.org/10.1186/s13073-017-0433-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-017-0433-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085532281", 
          "https://doi.org/10.1186/s13073-017-0433-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms15824", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085983509", 
          "https://doi.org/10.1038/ncomms15824"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/wnr.0000000000000838", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1086147481"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/wnr.0000000000000838", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1086147481"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.08.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091500985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.08.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091500985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-1-4939-7231-9_4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091674741", 
          "https://doi.org/10.1007/978-1-4939-7231-9_4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.7554/elife.29795", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091917520"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.11.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1099621192"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.11.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1099910948"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.11.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1099910948"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.25208", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101519187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/cns.12860", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103445094"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41431-018-0299-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1110634003", 
          "https://doi.org/10.1038/s41431-018-0299-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41431-018-0299-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1110634003", 
          "https://doi.org/10.1038/s41431-018-0299-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41431-018-0299-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1110634003", 
          "https://doi.org/10.1038/s41431-018-0299-8"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-05", 
    "datePublishedReg": "2019-05-01", 
    "description": "CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. We here report 12 independent patients harboring a variety of de novo variants in CYFIP2 broadening the molecular and clinical spectrum of a novel CYFIP2-related neurodevelopmental disorder. Using trio whole-exome or -genome sequencing, we identified 12 independent patients carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia. We detected seven different missense variants, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)), and a splice donor variant in the last intron for which we showed exon skipping in the transcript. The latter is expected to escape nonsense-mediated mRNA decay resulting in a truncated protein. Despite the large spacing in the primary structure, the variants spatially cluster in the tertiary structure and are all predicted to weaken the interaction with WAVE1 or NCKAP1 of the actin polymerization regulating WRC-complex. Preliminary genotype-phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations. This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41431-018-0331-z", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2683812", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.4730140", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "27"
      }
    ], 
    "name": "Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures", 
    "pagination": "1-13", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41431-018-0331-z"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "2752c8508ddb540dea8ebd5a81f1b4d13e6f6a8de77d2391f1464c70c9e83268"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1111564739"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9302235"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30664714"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41431-018-0331-z", 
      "https://app.dimensions.ai/details/publication/pub.1111564739"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-15T09:19", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000376_0000000376/records_56176_00000006.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41431-018-0331-z"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0331-z'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0331-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0331-z'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41431-018-0331-z'


 

This table displays all metadata directly associated to this object as RDF triples.

585 TRIPLES      21 PREDICATES      80 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41431-018-0331-z schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Nc767e7d25ddb4ee7b737c68bfbe8b872
4 schema:citation sg:pub.10.1007/978-1-4939-7231-9_4
5 sg:pub.10.1038/gim.2014.154
6 sg:pub.10.1038/nature09623
7 sg:pub.10.1038/nature12439
8 sg:pub.10.1038/nature13394
9 sg:pub.10.1038/nature14135
10 sg:pub.10.1038/nature19057
11 sg:pub.10.1038/nature21062
12 sg:pub.10.1038/ncomms15824
13 sg:pub.10.1038/ng.1091
14 sg:pub.10.1038/nsb952
15 sg:pub.10.1038/s41431-018-0299-8
16 sg:pub.10.1038/sj.ejhg.5201649
17 sg:pub.10.1038/tp.2014.16
18 sg:pub.10.1186/s13073-017-0433-1
19 https://doi.org/10.1001/jama.2014.14601
20 https://doi.org/10.1002/1096-8628(20000717)93:2<107::aid-ajmg5>3.0.co;2-8
21 https://doi.org/10.1002/ana.25208
22 https://doi.org/10.1002/cm.20342
23 https://doi.org/10.1002/humu.22844
24 https://doi.org/10.1002/jcc.20084
25 https://doi.org/10.1016/j.ajhg.2009.03.010
26 https://doi.org/10.1016/j.ajhg.2015.07.014
27 https://doi.org/10.1016/j.ajhg.2015.11.024
28 https://doi.org/10.1016/j.ajhg.2017.08.007
29 https://doi.org/10.1016/j.ajhg.2017.11.006
30 https://doi.org/10.1016/j.ajhg.2017.11.013
31 https://doi.org/10.1016/j.cell.2011.06.013
32 https://doi.org/10.1016/j.cell.2013.11.048
33 https://doi.org/10.1016/j.conb.2016.04.010
34 https://doi.org/10.1016/j.jmb.2016.11.022
35 https://doi.org/10.1016/j.ydbio.2010.05.512
36 https://doi.org/10.1016/s0140-6736(12)61480-9
37 https://doi.org/10.1046/j.1365-2788.2000.00270.x
38 https://doi.org/10.1073/pnas.151231598
39 https://doi.org/10.1080/23262133.2016.1261653
40 https://doi.org/10.1093/brain/aww205
41 https://doi.org/10.1093/hmg/ddu595
42 https://doi.org/10.1093/nar/gkw1129
43 https://doi.org/10.1097/wnr.0000000000000838
44 https://doi.org/10.1111/cns.12860
45 https://doi.org/10.1111/j.1528-1167.2011.03170.x
46 https://doi.org/10.1111/j.1601-183x.2012.00768.x
47 https://doi.org/10.1136/jmedgenet-2017-104521
48 https://doi.org/10.1146/annurev-genet-110410-132512
49 https://doi.org/10.1371/journal.pgen.1003450
50 https://doi.org/10.1542/peds.2013-3787
51 https://doi.org/10.3345/kjp.2016.59.11.s19
52 https://doi.org/10.3389/fncel.2014.00081
53 https://doi.org/10.3390/ijms16024068
54 https://doi.org/10.7554/elife.29795
55 schema:datePublished 2019-05
56 schema:datePublishedReg 2019-05-01
57 schema:description CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. We here report 12 independent patients harboring a variety of de novo variants in CYFIP2 broadening the molecular and clinical spectrum of a novel CYFIP2-related neurodevelopmental disorder. Using trio whole-exome or -genome sequencing, we identified 12 independent patients carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia. We detected seven different missense variants, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)), and a splice donor variant in the last intron for which we showed exon skipping in the transcript. The latter is expected to escape nonsense-mediated mRNA decay resulting in a truncated protein. Despite the large spacing in the primary structure, the variants spatially cluster in the tertiary structure and are all predicted to weaken the interaction with WAVE1 or NCKAP1 of the actin polymerization regulating WRC-complex. Preliminary genotype-phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations. This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia.
58 schema:genre research_article
59 schema:inLanguage en
60 schema:isAccessibleForFree false
61 schema:isPartOf N9a77c5fbeaaa43638ac1c16df4494bb4
62 Na60a5bb085d4444183744544419eb841
63 sg:journal.1103410
64 schema:name Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
65 schema:pagination 1-13
66 schema:productId N74cd4222794a492d9ae9d7a0dbdd5675
67 N7eaf1ff40cea4129af4d3db6b88fb4ea
68 Nad1a1def74f74623a7d7cfcef908056c
69 Nb1c0fb7b1c054cd696f649d469c6076b
70 Nf22a38aca563437db44a807a0a86f033
71 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111564739
72 https://doi.org/10.1038/s41431-018-0331-z
73 schema:sdDatePublished 2019-04-15T09:19
74 schema:sdLicense https://scigraph.springernature.com/explorer/license/
75 schema:sdPublisher N27d0c90918694eb7a057d6aaac483632
76 schema:url https://www.nature.com/articles/s41431-018-0331-z
77 sgo:license sg:explorer/license/
78 sgo:sdDataset articles
79 rdf:type schema:ScholarlyArticle
80 N0e4c555bf8434a62b0489a2b5ef144f6 rdf:first sg:person.01324477774.21
81 rdf:rest Nd5b96c8adf4d41c0a61ea04451ee63bb
82 N13c1f7bf0e6947a39a8e2199ac12acb6 rdf:first sg:person.015113012507.51
83 rdf:rest N82cb7f53240e484f88dbe3c233f29b53
84 N181e4e3b6545439782a5df87bf6bf2df rdf:first sg:person.01060212224.88
85 rdf:rest N24110e5e9e074ecc86ecfdef7a5b1b93
86 N20fa42767c7f4fd89a1e9a4f8a49d9d0 rdf:first sg:person.01156612045.01
87 rdf:rest Nd4e1e47b7a304414a6b6b4ae03790b37
88 N2265d9f7d1c7486c819c46d2c1cf032f rdf:first sg:person.01131072112.42
89 rdf:rest N72fa05d8a2c94aec84877b8f1def31d3
90 N24110e5e9e074ecc86ecfdef7a5b1b93 rdf:first sg:person.01012264451.90
91 rdf:rest Nf3219a4c0a7245558b29f80b3efb292f
92 N24e6c5cd63234a53b3a9546e9c1af31b rdf:first sg:person.0762521143.49
93 rdf:rest Na4b5926521dc46e59813c49218ecc24d
94 N25210585bc3c4f28a923a95d3fc7b3ae rdf:first sg:person.0765202505.01
95 rdf:rest Nac78c54336034792bc63e86d66b39df4
96 N27d0c90918694eb7a057d6aaac483632 schema:name Springer Nature - SN SciGraph project
97 rdf:type schema:Organization
98 N2cf446e817c34ba980fcf3a60e9b70a0 rdf:first sg:person.01335143205.30
99 rdf:rest N25210585bc3c4f28a923a95d3fc7b3ae
100 N3ad29be48ecc4897a176eb12187140af rdf:first sg:person.07771404222.35
101 rdf:rest Nd11fb386b6924028b99bf592fc2932a0
102 N3d3a49195ed94642ba03e11376105211 rdf:first sg:person.015215164753.94
103 rdf:rest Ne1018d248eee4a769263dfe713331ce3
104 N3d91c3be6d8d4c78ad1d36773063dea5 rdf:first Nb03d6fd7d5814bdcb3af79a4e0e08470
105 rdf:rest rdf:nil
106 N50b3fc2d298b44bfb061ebc2d1ef214c rdf:first Nf1e97dc09aa544abb8b085ccad48d399
107 rdf:rest N95ccf61e5ced4b25be64251168007eb4
108 N60e09803394343f1b26cb840571ea99a rdf:first sg:person.01367500762.18
109 rdf:rest N24e6c5cd63234a53b3a9546e9c1af31b
110 N71430999f8554af58949efac4f632fb2 rdf:first sg:person.01200564431.31
111 rdf:rest N3d3a49195ed94642ba03e11376105211
112 N72fa05d8a2c94aec84877b8f1def31d3 rdf:first sg:person.01230201061.73
113 rdf:rest N13c1f7bf0e6947a39a8e2199ac12acb6
114 N74cd4222794a492d9ae9d7a0dbdd5675 schema:name dimensions_id
115 schema:value pub.1111564739
116 rdf:type schema:PropertyValue
117 N78df0ead4b8148ee8c706060eadf0520 schema:name Department of Pediatrics, Klinikum Nuremberg, Nuremberg, Germany
118 rdf:type schema:Organization
119 N7b49ac562e12468c8b30bdd1579e4c04 rdf:first sg:person.013675445522.04
120 rdf:rest N9268cc7e33c34d3f966a133bae6ce5c7
121 N7eaf1ff40cea4129af4d3db6b88fb4ea schema:name readcube_id
122 schema:value 2752c8508ddb540dea8ebd5a81f1b4d13e6f6a8de77d2391f1464c70c9e83268
123 rdf:type schema:PropertyValue
124 N82cb7f53240e484f88dbe3c233f29b53 rdf:first sg:person.01050577725.89
125 rdf:rest Nbb7fb67749734bcd8ff2502c84a6ec83
126 N8d3bb69ba2424e79a01645ea246afcbd rdf:first Nb7f6186fcde647ccb748e7c785f1e1c3
127 rdf:rest N97bc714e54fe4b5d8e5ac3de3a21abd1
128 N8e6700d77d3e46b7ac4b41e14dd13290 schema:name Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany
129 rdf:type schema:Organization
130 N8f7c98f97d4e46a7bc176f8ec3ad5f17 rdf:first sg:person.0761516775.46
131 rdf:rest N20fa42767c7f4fd89a1e9a4f8a49d9d0
132 N917694d9d42b45a082cc14d9541e8c9b schema:affiliation https://www.grid.ac/institutes/grid.459568.3
133 schema:familyName Berger
134 schema:givenName Andrea
135 rdf:type schema:Person
136 N9268cc7e33c34d3f966a133bae6ce5c7 rdf:first sg:person.014345114425.55
137 rdf:rest N8d3bb69ba2424e79a01645ea246afcbd
138 N95ccf61e5ced4b25be64251168007eb4 rdf:first Nafa1c64a859046eb87328622d2c5d129
139 rdf:rest N7b49ac562e12468c8b30bdd1579e4c04
140 N97bc714e54fe4b5d8e5ac3de3a21abd1 rdf:first sg:person.0740503023.07
141 rdf:rest N2265d9f7d1c7486c819c46d2c1cf032f
142 N9a77c5fbeaaa43638ac1c16df4494bb4 schema:issueNumber 5
143 rdf:type schema:PublicationIssue
144 Na4b5926521dc46e59813c49218ecc24d rdf:first sg:person.0664267072.46
145 rdf:rest N71430999f8554af58949efac4f632fb2
146 Na60a5bb085d4444183744544419eb841 schema:volumeNumber 27
147 rdf:type schema:PublicationVolume
148 Nac78c54336034792bc63e86d66b39df4 rdf:first sg:person.01155165260.10
149 rdf:rest N3d91c3be6d8d4c78ad1d36773063dea5
150 Nad1a1def74f74623a7d7cfcef908056c schema:name nlm_unique_id
151 schema:value 9302235
152 rdf:type schema:PropertyValue
153 Nafa1c64a859046eb87328622d2c5d129 schema:affiliation https://www.grid.ac/institutes/grid.417691.c
154 schema:familyName Cooper
155 schema:givenName Gregory M.
156 rdf:type schema:Person
157 Nb03d6fd7d5814bdcb3af79a4e0e08470 schema:affiliation https://www.grid.ac/institutes/grid.5801.c
158 schema:familyName Rauch
159 schema:givenName Anita
160 rdf:type schema:Person
161 Nb1c0fb7b1c054cd696f649d469c6076b schema:name pubmed_id
162 schema:value 30664714
163 rdf:type schema:PropertyValue
164 Nb7f6186fcde647ccb748e7c785f1e1c3 schema:affiliation https://www.grid.ac/institutes/grid.420004.2
165 schema:familyName Henderson
166 schema:givenName Alex
167 rdf:type schema:Person
168 Nbb7fb67749734bcd8ff2502c84a6ec83 rdf:first sg:person.01352175255.11
169 rdf:rest N0e4c555bf8434a62b0489a2b5ef144f6
170 Nc6c7dca1fe634b5daa12817705cfc3d6 rdf:first sg:person.01030772703.78
171 rdf:rest Nd7544b236ec340589c1bf2fc9ea5f229
172 Nc767e7d25ddb4ee7b737c68bfbe8b872 rdf:first sg:person.01104673437.66
173 rdf:rest Ne9aa01e4eae7407b8e2e7055d054892b
174 Nd0fe22fe94f7455482cd3b30c6f8a0d3 rdf:first N917694d9d42b45a082cc14d9541e8c9b
175 rdf:rest N3ad29be48ecc4897a176eb12187140af
176 Nd11fb386b6924028b99bf592fc2932a0 rdf:first Nea0dd061662a4b2b8968d788c31ef0f1
177 rdf:rest N50b3fc2d298b44bfb061ebc2d1ef214c
178 Nd4e1e47b7a304414a6b6b4ae03790b37 rdf:first sg:person.012050724067.75
179 rdf:rest N2cf446e817c34ba980fcf3a60e9b70a0
180 Nd5b96c8adf4d41c0a61ea04451ee63bb rdf:first sg:person.01136306270.39
181 rdf:rest Nff51b2a6ae86430faca789b77651f727
182 Nd7544b236ec340589c1bf2fc9ea5f229 rdf:first sg:person.01025734411.70
183 rdf:rest N181e4e3b6545439782a5df87bf6bf2df
184 Ne1018d248eee4a769263dfe713331ce3 rdf:first Ne1abe1d2062d49faa2ce6c8cf46583d1
185 rdf:rest N8f7c98f97d4e46a7bc176f8ec3ad5f17
186 Ne1abe1d2062d49faa2ce6c8cf46583d1 schema:affiliation https://www.grid.ac/institutes/grid.239560.b
187 schema:familyName Schreiber
188 schema:givenName John M.
189 rdf:type schema:Person
190 Ne5653d2660554e75bda062f2bc5052ad schema:name Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany
191 Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany
192 rdf:type schema:Organization
193 Ne9aa01e4eae7407b8e2e7055d054892b rdf:first sg:person.016111503203.08
194 rdf:rest Nc6c7dca1fe634b5daa12817705cfc3d6
195 Nea0dd061662a4b2b8968d788c31ef0f1 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
196 schema:familyName Carneiro
197 schema:givenName Maryline
198 rdf:type schema:Person
199 Nef18c98e55534a64a743ce4403755c96 rdf:first sg:person.01315013031.54
200 rdf:rest N60e09803394343f1b26cb840571ea99a
201 Nf1e97dc09aa544abb8b085ccad48d399 schema:affiliation https://www.grid.ac/institutes/grid.266902.9
202 schema:familyName Chen
203 schema:givenName Jiani
204 rdf:type schema:Person
205 Nf22a38aca563437db44a807a0a86f033 schema:name doi
206 schema:value 10.1038/s41431-018-0331-z
207 rdf:type schema:PropertyValue
208 Nf3219a4c0a7245558b29f80b3efb292f rdf:first sg:person.013046453150.07
209 rdf:rest Nd0fe22fe94f7455482cd3b30c6f8a0d3
210 Nff51b2a6ae86430faca789b77651f727 rdf:first sg:person.014007757653.51
211 rdf:rest Nef18c98e55534a64a743ce4403755c96
212 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
213 schema:name Biological Sciences
214 rdf:type schema:DefinedTerm
215 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
216 schema:name Genetics
217 rdf:type schema:DefinedTerm
218 sg:grant.2683812 http://pending.schema.org/fundedItem sg:pub.10.1038/s41431-018-0331-z
219 rdf:type schema:MonetaryGrant
220 sg:grant.4730140 http://pending.schema.org/fundedItem sg:pub.10.1038/s41431-018-0331-z
221 rdf:type schema:MonetaryGrant
222 sg:journal.1103410 schema:issn 1018-4813
223 1476-5438
224 schema:name European Journal of Human Genetics
225 rdf:type schema:Periodical
226 sg:person.01012264451.90 schema:affiliation https://www.grid.ac/institutes/grid.5379.8
227 schema:familyName Banka
228 schema:givenName Siddharth
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012264451.90
230 rdf:type schema:Person
231 sg:person.01025734411.70 schema:affiliation https://www.grid.ac/institutes/grid.428467.b
232 schema:familyName Cho
233 schema:givenName Megan T.
234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025734411.70
235 rdf:type schema:Person
236 sg:person.01030772703.78 schema:affiliation https://www.grid.ac/institutes/grid.428467.b
237 schema:familyName McWalter
238 schema:givenName Kirsty
239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030772703.78
240 rdf:type schema:Person
241 sg:person.01050577725.89 schema:affiliation N8e6700d77d3e46b7ac4b41e14dd13290
242 schema:familyName Leszinski
243 schema:givenName Gloria S.
244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050577725.89
245 rdf:type schema:Person
246 sg:person.01060212224.88 schema:affiliation https://www.grid.ac/institutes/grid.412341.1
247 schema:familyName Abela
248 schema:givenName Lucia
249 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060212224.88
250 rdf:type schema:Person
251 sg:person.01104673437.66 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
252 schema:familyName Zweier
253 schema:givenName Markus
254 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104673437.66
255 rdf:type schema:Person
256 sg:person.01131072112.42 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
257 schema:familyName Joset
258 schema:givenName Pascal
259 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131072112.42
260 rdf:type schema:Person
261 sg:person.01136306270.39 schema:affiliation https://www.grid.ac/institutes/grid.428467.b
262 schema:familyName Monaghan
263 schema:givenName Kristin G.
264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136306270.39
265 rdf:type schema:Person
266 sg:person.01155165260.10 schema:affiliation https://www.grid.ac/institutes/grid.5330.5
267 schema:familyName Sticht
268 schema:givenName Heinrich
269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155165260.10
270 rdf:type schema:Person
271 sg:person.01156612045.01 schema:affiliation https://www.grid.ac/institutes/grid.417467.7
272 schema:familyName Wierenga
273 schema:givenName Klaas J.
274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156612045.01
275 rdf:type schema:Person
276 sg:person.01200564431.31 schema:affiliation https://www.grid.ac/institutes/grid.10939.32
277 schema:familyName Reimand
278 schema:givenName Tiia
279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200564431.31
280 rdf:type schema:Person
281 sg:person.012050724067.75 schema:affiliation https://www.grid.ac/institutes/grid.66859.34
282 schema:familyName Wojcik
283 schema:givenName Monica H.
284 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012050724067.75
285 rdf:type schema:Person
286 sg:person.01230201061.73 schema:affiliation https://www.grid.ac/institutes/grid.5379.8
287 schema:familyName Kerr
288 schema:givenName Bronwyn
289 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230201061.73
290 rdf:type schema:Person
291 sg:person.013046453150.07 schema:affiliation N78df0ead4b8148ee8c706060eadf0520
292 schema:familyName Behring
293 schema:givenName Bettina
294 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013046453150.07
295 rdf:type schema:Person
296 sg:person.01315013031.54 schema:affiliation https://www.grid.ac/institutes/grid.412269.a
297 schema:familyName Õunap
298 schema:givenName Katrin
299 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315013031.54
300 rdf:type schema:Person
301 sg:person.01324477774.21 schema:affiliation https://www.grid.ac/institutes/grid.239560.b
302 schema:familyName Meltzer
303 schema:givenName Meira R.
304 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324477774.21
305 rdf:type schema:Person
306 sg:person.01335143205.30 schema:affiliation https://www.grid.ac/institutes/grid.433858.1
307 schema:familyName Papuc
308 schema:givenName Sorina M.
309 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335143205.30
310 rdf:type schema:Person
311 sg:person.01352175255.11 schema:affiliation https://www.grid.ac/institutes/grid.416523.7
312 schema:familyName McDermott
313 schema:givenName John Henry
314 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352175255.11
315 rdf:type schema:Person
316 sg:person.01367500762.18 schema:affiliation https://www.grid.ac/institutes/grid.11598.34
317 schema:familyName Plecko
318 schema:givenName Barbara
319 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367500762.18
320 rdf:type schema:Person
321 sg:person.013675445522.04 schema:affiliation https://www.grid.ac/institutes/grid.417691.c
322 schema:familyName Finnila
323 schema:givenName Candice R.
324 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013675445522.04
325 rdf:type schema:Person
326 sg:person.014007757653.51 schema:affiliation https://www.grid.ac/institutes/grid.413728.b
327 schema:familyName Mostafavi
328 schema:givenName Roya
329 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014007757653.51
330 rdf:type schema:Person
331 sg:person.014345114425.55 schema:affiliation https://www.grid.ac/institutes/grid.428467.b
332 schema:familyName Sacoto
333 schema:givenName Maria J. Guillen
334 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014345114425.55
335 rdf:type schema:Person
336 sg:person.015113012507.51 schema:affiliation https://www.grid.ac/institutes/grid.461862.f
337 schema:familyName Lesca
338 schema:givenName Gaetan
339 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015113012507.51
340 rdf:type schema:Person
341 sg:person.015215164753.94 schema:affiliation Ne5653d2660554e75bda062f2bc5052ad
342 schema:familyName Riedhammer
343 schema:givenName Korbinian M.
344 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015215164753.94
345 rdf:type schema:Person
346 sg:person.016111503203.08 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
347 schema:familyName Begemann
348 schema:givenName Anaïs
349 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016111503203.08
350 rdf:type schema:Person
351 sg:person.0664267072.46 schema:affiliation https://www.grid.ac/institutes/grid.266902.9
352 schema:familyName Purcarin
353 schema:givenName Gabriela
354 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664267072.46
355 rdf:type schema:Person
356 sg:person.0740503023.07 schema:affiliation https://www.grid.ac/institutes/grid.5330.5
357 schema:familyName Hüffmeier
358 schema:givenName Ulrike
359 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740503023.07
360 rdf:type schema:Person
361 sg:person.0761516775.46 schema:affiliation https://www.grid.ac/institutes/grid.267313.2
362 schema:familyName Sirsi
363 schema:givenName Deepa
364 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761516775.46
365 rdf:type schema:Person
366 sg:person.0762521143.49 schema:affiliation https://www.grid.ac/institutes/grid.465138.d
367 schema:familyName Powis
368 schema:givenName Zöe
369 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762521143.49
370 rdf:type schema:Person
371 sg:person.0765202505.01 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
372 schema:familyName Steindl
373 schema:givenName Katharina
374 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765202505.01
375 rdf:type schema:Person
376 sg:person.07771404222.35 schema:affiliation https://www.grid.ac/institutes/grid.267301.1
377 schema:familyName Brown
378 schema:givenName Chester W.
379 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07771404222.35
380 rdf:type schema:Person
381 sg:pub.10.1007/978-1-4939-7231-9_4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091674741
382 https://doi.org/10.1007/978-1-4939-7231-9_4
383 rdf:type schema:CreativeWork
384 sg:pub.10.1038/gim.2014.154 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027316421
385 https://doi.org/10.1038/gim.2014.154
386 rdf:type schema:CreativeWork
387 sg:pub.10.1038/nature09623 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046792367
388 https://doi.org/10.1038/nature09623
389 rdf:type schema:CreativeWork
390 sg:pub.10.1038/nature12439 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003744287
391 https://doi.org/10.1038/nature12439
392 rdf:type schema:CreativeWork
393 sg:pub.10.1038/nature13394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052525502
394 https://doi.org/10.1038/nature13394
395 rdf:type schema:CreativeWork
396 sg:pub.10.1038/nature14135 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007784461
397 https://doi.org/10.1038/nature14135
398 rdf:type schema:CreativeWork
399 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
400 https://doi.org/10.1038/nature19057
401 rdf:type schema:CreativeWork
402 sg:pub.10.1038/nature21062 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074194641
403 https://doi.org/10.1038/nature21062
404 rdf:type schema:CreativeWork
405 sg:pub.10.1038/ncomms15824 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085983509
406 https://doi.org/10.1038/ncomms15824
407 rdf:type schema:CreativeWork
408 sg:pub.10.1038/ng.1091 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000960507
409 https://doi.org/10.1038/ng.1091
410 rdf:type schema:CreativeWork
411 sg:pub.10.1038/nsb952 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020429132
412 https://doi.org/10.1038/nsb952
413 rdf:type schema:CreativeWork
414 sg:pub.10.1038/s41431-018-0299-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1110634003
415 https://doi.org/10.1038/s41431-018-0299-8
416 rdf:type schema:CreativeWork
417 sg:pub.10.1038/sj.ejhg.5201649 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051466506
418 https://doi.org/10.1038/sj.ejhg.5201649
419 rdf:type schema:CreativeWork
420 sg:pub.10.1038/tp.2014.16 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040634948
421 https://doi.org/10.1038/tp.2014.16
422 rdf:type schema:CreativeWork
423 sg:pub.10.1186/s13073-017-0433-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085532281
424 https://doi.org/10.1186/s13073-017-0433-1
425 rdf:type schema:CreativeWork
426 https://doi.org/10.1001/jama.2014.14601 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035740594
427 rdf:type schema:CreativeWork
428 https://doi.org/10.1002/1096-8628(20000717)93:2<107::aid-ajmg5>3.0.co;2-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046467785
429 rdf:type schema:CreativeWork
430 https://doi.org/10.1002/ana.25208 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101519187
431 rdf:type schema:CreativeWork
432 https://doi.org/10.1002/cm.20342 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046220919
433 rdf:type schema:CreativeWork
434 https://doi.org/10.1002/humu.22844 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020371094
435 rdf:type schema:CreativeWork
436 https://doi.org/10.1002/jcc.20084 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008225564
437 rdf:type schema:CreativeWork
438 https://doi.org/10.1016/j.ajhg.2009.03.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048795148
439 rdf:type schema:CreativeWork
440 https://doi.org/10.1016/j.ajhg.2015.07.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041496970
441 rdf:type schema:CreativeWork
442 https://doi.org/10.1016/j.ajhg.2015.11.024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053014970
443 rdf:type schema:CreativeWork
444 https://doi.org/10.1016/j.ajhg.2017.08.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091500985
445 rdf:type schema:CreativeWork
446 https://doi.org/10.1016/j.ajhg.2017.11.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1099621192
447 rdf:type schema:CreativeWork
448 https://doi.org/10.1016/j.ajhg.2017.11.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1099910948
449 rdf:type schema:CreativeWork
450 https://doi.org/10.1016/j.cell.2011.06.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002054390
451 rdf:type schema:CreativeWork
452 https://doi.org/10.1016/j.cell.2013.11.048 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049066153
453 rdf:type schema:CreativeWork
454 https://doi.org/10.1016/j.conb.2016.04.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026112142
455 rdf:type schema:CreativeWork
456 https://doi.org/10.1016/j.jmb.2016.11.022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023335398
457 rdf:type schema:CreativeWork
458 https://doi.org/10.1016/j.ydbio.2010.05.512 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023754599
459 rdf:type schema:CreativeWork
460 https://doi.org/10.1016/s0140-6736(12)61480-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046585463
461 rdf:type schema:CreativeWork
462 https://doi.org/10.1046/j.1365-2788.2000.00270.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1048115615
463 rdf:type schema:CreativeWork
464 https://doi.org/10.1073/pnas.151231598 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037861759
465 rdf:type schema:CreativeWork
466 https://doi.org/10.1080/23262133.2016.1261653 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058421353
467 rdf:type schema:CreativeWork
468 https://doi.org/10.1093/brain/aww205 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036147912
469 rdf:type schema:CreativeWork
470 https://doi.org/10.1093/hmg/ddu595 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022429444
471 rdf:type schema:CreativeWork
472 https://doi.org/10.1093/nar/gkw1129 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042970960
473 rdf:type schema:CreativeWork
474 https://doi.org/10.1097/wnr.0000000000000838 schema:sameAs https://app.dimensions.ai/details/publication/pub.1086147481
475 rdf:type schema:CreativeWork
476 https://doi.org/10.1111/cns.12860 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103445094
477 rdf:type schema:CreativeWork
478 https://doi.org/10.1111/j.1528-1167.2011.03170.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1000895558
479 rdf:type schema:CreativeWork
480 https://doi.org/10.1111/j.1601-183x.2012.00768.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025308019
481 rdf:type schema:CreativeWork
482 https://doi.org/10.1136/jmedgenet-2017-104521 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084608810
483 rdf:type schema:CreativeWork
484 https://doi.org/10.1146/annurev-genet-110410-132512 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036295228
485 rdf:type schema:CreativeWork
486 https://doi.org/10.1371/journal.pgen.1003450 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019128894
487 rdf:type schema:CreativeWork
488 https://doi.org/10.1542/peds.2013-3787 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035935424
489 rdf:type schema:CreativeWork
490 https://doi.org/10.3345/kjp.2016.59.11.s19 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009163730
491 rdf:type schema:CreativeWork
492 https://doi.org/10.3389/fncel.2014.00081 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037108177
493 rdf:type schema:CreativeWork
494 https://doi.org/10.3390/ijms16024068 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017561718
495 rdf:type schema:CreativeWork
496 https://doi.org/10.7554/elife.29795 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091917520
497 rdf:type schema:CreativeWork
498 https://www.grid.ac/institutes/grid.10939.32 schema:alternateName University of Tartu
499 schema:name Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
500 Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
501 Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
502 rdf:type schema:Organization
503 https://www.grid.ac/institutes/grid.11598.34 schema:alternateName Medical University of Graz
504 schema:name Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland
505 Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria
506 Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland
507 rdf:type schema:Organization
508 https://www.grid.ac/institutes/grid.239560.b schema:alternateName Children’s National Health System
509 schema:name Children’s National Health System, Washington, DC, USA
510 rdf:type schema:Organization
511 https://www.grid.ac/institutes/grid.266902.9 schema:alternateName University of Oklahoma Health Sciences Center
512 schema:name University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
513 rdf:type schema:Organization
514 https://www.grid.ac/institutes/grid.267301.1 schema:alternateName University of Tennessee Health Science Center
515 schema:name Division of Medical Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA
516 Le Bonheur Children’s Hospital, Memphis, TN, USA
517 rdf:type schema:Organization
518 https://www.grid.ac/institutes/grid.267313.2 schema:alternateName The University of Texas Southwestern Medical Center
519 schema:name Department of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA
520 rdf:type schema:Organization
521 https://www.grid.ac/institutes/grid.412269.a schema:alternateName Tartu University Hospital
522 schema:name Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
523 Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
524 rdf:type schema:Organization
525 https://www.grid.ac/institutes/grid.412341.1 schema:alternateName University Children's Hospital Zurich
526 schema:name Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland
527 Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland
528 rdf:type schema:Organization
529 https://www.grid.ac/institutes/grid.413728.b schema:alternateName Le Bonheur Children's Hospital
530 schema:name Le Bonheur Children’s Hospital, Memphis, TN, USA
531 rdf:type schema:Organization
532 https://www.grid.ac/institutes/grid.413852.9 schema:alternateName Hospices Civils de Lyon
533 schema:name Department of Neuropediatrics, Lyon University Hospital, Lyon, France
534 rdf:type schema:Organization
535 https://www.grid.ac/institutes/grid.416523.7 schema:alternateName St Mary's Hospital
536 schema:name Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
537 rdf:type schema:Organization
538 https://www.grid.ac/institutes/grid.417467.7 schema:alternateName Mayo Clinic
539 schema:name Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA
540 University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
541 rdf:type schema:Organization
542 https://www.grid.ac/institutes/grid.417691.c schema:alternateName HudsonAlpha Institute for Biotechnology
543 schema:name HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
544 rdf:type schema:Organization
545 https://www.grid.ac/institutes/grid.420004.2 schema:alternateName Newcastle upon Tyne Hospitals NHS Foundation Trust
546 schema:name Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, NE1 3BZ, Newcastle upon Tyne, UK
547 rdf:type schema:Organization
548 https://www.grid.ac/institutes/grid.428467.b schema:alternateName OPKO Health (United States)
549 schema:name GeneDx, Gaithersburg, MD, USA
550 rdf:type schema:Organization
551 https://www.grid.ac/institutes/grid.433858.1 schema:alternateName Institutul National Victor Babes
552 schema:name Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland
553 Victor Babes National Institute of Pathology, Bucharest, Romania
554 rdf:type schema:Organization
555 https://www.grid.ac/institutes/grid.459568.3 schema:alternateName Klinikum Weiden
556 schema:name Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, Weiden, Germany
557 rdf:type schema:Organization
558 https://www.grid.ac/institutes/grid.461862.f schema:alternateName Lyon Neuroscience Research Center
559 schema:name CNRS UMR 5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France
560 Department of Medical Genetics, Lyon University Hospital, Lyon, France
561 rdf:type schema:Organization
562 https://www.grid.ac/institutes/grid.465138.d schema:alternateName Ambry Genetics (United States)
563 schema:name Ambry Genetics, Aliso Viejo, CA, USA
564 rdf:type schema:Organization
565 https://www.grid.ac/institutes/grid.5330.5 schema:alternateName University of Erlangen-Nuremberg
566 schema:name Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
567 Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
568 rdf:type schema:Organization
569 https://www.grid.ac/institutes/grid.5379.8 schema:alternateName University of Manchester
570 schema:name Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
571 Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
572 rdf:type schema:Organization
573 https://www.grid.ac/institutes/grid.5801.c schema:alternateName Swiss Federal Institute of Technology in Zurich
574 schema:name Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland
575 Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland
576 Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland
577 Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland
578 rdf:type schema:Organization
579 https://www.grid.ac/institutes/grid.66859.34 schema:alternateName Broad Institute
580 schema:name Broad Institute of MIT and Harvard, Cambridge, MA, USA
581 rdf:type schema:Organization
582 https://www.grid.ac/institutes/grid.7400.3 schema:alternateName University of Zurich
583 schema:name Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland
584 Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland
585 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...