Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02-20

AUTHORS

Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Melanie Fradin, Yline Capri, Delphine Héron, Marie-Christine Nougues, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair Pagnamenta, Jenny C Taylor, Yoshimi Sogawa, Diana Johnson, Helen Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux-Boucher, Michel Koenig, Cyril Mignot, Usha Kini, Christophe Philippe

ABSTRACT

The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published; thus amendments to the Abstract and Methods have been made as well as addition of the relevant authors and acknowledgment.

PAGES

1-1

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-019-0460-y

DOI

http://dx.doi.org/10.1038/s41436-019-0460-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112223189

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30783266


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", 
    "author": [
      {
        "affiliation": {
          "name": [
            "Centre de G\u00e9n\u00e9tique Humaine, Universit\u00e9 de Franche-Comt\u00e9, CHU Besan\u00e7on, Besan\u00e7on, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Piard", 
        "givenName": "Juliette", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oxford University Hospitals NHS Trust", 
          "id": "https://www.grid.ac/institutes/grid.410556.3", 
          "name": [
            "Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hawkes", 
        "givenName": "Lara", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital de la Timone", 
          "id": "https://www.grid.ac/institutes/grid.411266.6", 
          "name": [
            "Aix Marseille Univ, Inserm, MMG, Marseille, France", 
            "Pediatric Neurology, La Timone Children\u2019s Hospital, AP-HM, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Milh", 
        "givenName": "Mathieu", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital de la Timone", 
          "id": "https://www.grid.ac/institutes/grid.411266.6", 
          "name": [
            "Aix Marseille Univ, Inserm, MMG, Marseille, France", 
            "Medical Genetics, La Timone Children\u2019s Hospital, AP-HM, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Villard", 
        "givenName": "Laurent", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Eugenio Medea", 
          "id": "https://www.grid.ac/institutes/grid.420417.4", 
          "name": [
            "Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Borgatti", 
        "givenName": "Renato", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Eugenio Medea", 
          "id": "https://www.grid.ac/institutes/grid.420417.4", 
          "name": [
            "Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Romaniello", 
        "givenName": "Romina", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Rennes", 
          "id": "https://www.grid.ac/institutes/grid.411154.4", 
          "name": [
            "Service de G\u00e9n\u00e9tique, CLAD Ouest, CHU Rennes, Rennes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fradin", 
        "givenName": "Melanie", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Robert Debr\u00e9", 
          "id": "https://www.grid.ac/institutes/grid.413235.2", 
          "name": [
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9, APHP Paris, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Capri", 
        "givenName": "Yline", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "APHP, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares, Groupe Hospitalier Piti\u00e9 Salp\u00eatri\u00e8re et GHUEP H\u00f4pital Trousseau, Sorbonne Universit\u00e9, GRC \u201cD\u00e9ficience Intellectuelle et Autisme\u201d, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "H\u00e9ron", 
        "givenName": "Delphine", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Armand Trousseau", 
          "id": "https://www.grid.ac/institutes/grid.413776.0", 
          "name": [
            "Neurop\u00e9diatrie et Unit\u00e9 d\u2019\u00e9lectrophysiologie clinique, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires de l\u2019EST parisien et DHU I2B, H\u00f4pital d\u2019Enfants Armand Trousseau, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nougues", 
        "givenName": "Marie-Christine", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "D\u00e9partement de G\u00e9n\u00e9tique, Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nava", 
        "givenName": "Caroline", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Carol Davila University of Medicine and Pharmacy", 
          "id": "https://www.grid.ac/institutes/grid.8194.4", 
          "name": [
            "Pediatric Neurology Clinic, \u201cAlexandru Obregia\u201d Clinical Psychiatry Hospital, \u201cCarol Davila\u201d University of Medicine, Bucharest, Romania"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arsene", 
        "givenName": "Oana Tarta", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oxford University Hospitals NHS Trust", 
          "id": "https://www.grid.ac/institutes/grid.410556.3", 
          "name": [
            "Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shears", 
        "givenName": "Debbie", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Churchill Hospital", 
          "id": "https://www.grid.ac/institutes/grid.415719.f", 
          "name": [
            "Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Taylor", 
        "givenName": "John", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Centre for Human Genetics", 
          "id": "https://www.grid.ac/institutes/grid.270683.8", 
          "name": [
            "NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pagnamenta", 
        "givenName": "Alistair", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Centre for Human Genetics", 
          "id": "https://www.grid.ac/institutes/grid.270683.8", 
          "name": [
            "NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Taylor", 
        "givenName": "Jenny C", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Pittsburgh", 
          "id": "https://www.grid.ac/institutes/grid.239553.b", 
          "name": [
            "Division of Pediatric Neurology, Children\u2019s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sogawa", 
        "givenName": "Yoshimi", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Clinical Genetics, Sheffield Children\u2019s NHS Trust, Sheffield, United Kingdom"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Johnson", 
        "givenName": "Diana", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK", 
            "Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Firth", 
        "givenName": "Helen", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospitals of Leicester NHS Trust", 
          "id": "https://www.grid.ac/institutes/grid.269014.8", 
          "name": [
            "Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vasudevan", 
        "givenName": "Pradeep", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospitals of Leicester NHS Trust", 
          "id": "https://www.grid.ac/institutes/grid.269014.8", 
          "name": [
            "Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jones", 
        "givenName": "Gabriela", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Couple Enfant", 
          "id": "https://www.grid.ac/institutes/grid.492672.c", 
          "name": [
            "Service de Neurologie p\u00e9diatrique, Hopital Couple Enfant, CHU Grenoble Alpes, Grenoble, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nguyen-Morel", 
        "givenName": "Marie-Ange", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital de la Timone", 
          "id": "https://www.grid.ac/institutes/grid.411266.6", 
          "name": [
            "Medical Genetics, La Timone Children\u2019s Hospital, AP-HM, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Busa", 
        "givenName": "Tiffany", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital of Montpellier", 
          "id": "https://www.grid.ac/institutes/grid.157868.5", 
          "name": [
            "D\u00e9partement de Neurop\u00e9diatrie, Centre Hospitalier Universitaire de Montpellier, INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Roubertie", 
        "givenName": "Agathe", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Erasmus University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5645.2", 
          "name": [
            "Department for Clinical Genetics, Erasmus MC, Rotterdam, Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "van den Born", 
        "givenName": "Myrthe", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Centre de G\u00e9n\u00e9tique Humaine, Universit\u00e9 de Franche-Comt\u00e9, CHU Besan\u00e7on, Besan\u00e7on, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brischoux-Boucher", 
        "givenName": "Elise", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Montpellier", 
          "id": "https://www.grid.ac/institutes/grid.121334.6", 
          "name": [
            "EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU and Universit\u00e9 de Montpellier, Montpellier, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koenig", 
        "givenName": "Michel", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "APHP, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares, Groupe Hospitalier Piti\u00e9 Salp\u00eatri\u00e8re et GHUEP H\u00f4pital Trousseau, Sorbonne Universit\u00e9, GRC \u201cD\u00e9ficience Intellectuelle et Autisme\u201d, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mignot", 
        "givenName": "Cyril", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oxford University Hospitals NHS Trust", 
          "id": "https://www.grid.ac/institutes/grid.410556.3", 
          "name": [
            "Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kini", 
        "givenName": "Usha", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Burgundy", 
          "id": "https://www.grid.ac/institutes/grid.5613.1", 
          "name": [
            "Laboratoire de g\u00e9n\u00e9tique, Innovations en diagnostic g\u00e9nomique des maladies rares, Plateau Technique de Biologie, CHU Dijon, Dijon, France", 
            "INSERM 1231, LNC UMR1231 GAD, Burgundy University, Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Philippe", 
        "givenName": "Christophe", 
        "type": "Person"
      }
    ], 
    "datePublished": "2019-02-20", 
    "datePublishedReg": "2019-02-20", 
    "description": "The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published; thus amendments to the Abstract and Methods have been made as well as addition of the relevant authors and acknowledgment.", 
    "genre": "non_research_article", 
    "id": "sg:pub.10.1038/s41436-019-0460-y", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }
    ], 
    "name": "Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature", 
    "pagination": "1-1", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "2e37fe6e9bce5079951de8f57ad734ed2c6816cde831fba7d72e0dc3994fe716"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30783266"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41436-019-0460-y"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1112223189"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41436-019-0460-y", 
      "https://app.dimensions.ai/details/publication/pub.1112223189"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T09:19", 
    "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/v90/0000000339_0000000339/records_109496_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41436-019-0460-y"
  }
]
 

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/s41436-019-0460-y'

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/s41436-019-0460-y'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41436-019-0460-y'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-019-0460-y'


 

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

293 TRIPLES      19 PREDICATES      24 URIs      18 LITERALS      7 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41436-019-0460-y schema:author N7dd00931462d4a609537b7fc196c5da2
2 schema:datePublished 2019-02-20
3 schema:datePublishedReg 2019-02-20
4 schema:description The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published; thus amendments to the Abstract and Methods have been made as well as addition of the relevant authors and acknowledgment.
5 schema:genre non_research_article
6 schema:inLanguage en
7 schema:isAccessibleForFree false
8 schema:isPartOf sg:journal.1119411
9 schema:name Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
10 schema:pagination 1-1
11 schema:productId N19d7e503543f4be2abe813a52b0a8c2a
12 N49e41401675840878f75afce7cb1e7b4
13 N6efbf43243d34bf7bf53e2516df95825
14 Na09982c212b246f3a43a1f41a4a80c9b
15 Ne45b48bd2a9f4b078b55ed4d8cb103c6
16 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112223189
17 https://doi.org/10.1038/s41436-019-0460-y
18 schema:sdDatePublished 2019-04-11T09:19
19 schema:sdLicense https://scigraph.springernature.com/explorer/license/
20 schema:sdPublisher Na3d4d42bc9ba433aa2aab33a7a8f9208
21 schema:url https://www.nature.com/articles/s41436-019-0460-y
22 sgo:license sg:explorer/license/
23 sgo:sdDataset articles
24 rdf:type schema:ScholarlyArticle
25 N02a4309cfe264b5abbfacd7d95464c81 schema:affiliation https://www.grid.ac/institutes/grid.411266.6
26 schema:familyName Villard
27 schema:givenName Laurent
28 rdf:type schema:Person
29 N041284577527457ebc55692b251b80ea schema:name APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC “Déficience Intellectuelle et Autisme”, Paris, France
30 rdf:type schema:Organization
31 N05ac29c6b822453aa19c211c1cf5f1bd schema:affiliation https://www.grid.ac/institutes/grid.411266.6
32 schema:familyName Busa
33 schema:givenName Tiffany
34 rdf:type schema:Person
35 N09284ccbb59e476d95d45c1b2b5ba3c5 schema:affiliation https://www.grid.ac/institutes/grid.121334.6
36 schema:familyName Koenig
37 schema:givenName Michel
38 rdf:type schema:Person
39 N0c820373c4774df78d91644045d74a05 schema:affiliation https://www.grid.ac/institutes/grid.410556.3
40 schema:familyName Shears
41 schema:givenName Debbie
42 rdf:type schema:Person
43 N0caf19fecbfa4a32ab1e87fa112b3ab4 schema:affiliation https://www.grid.ac/institutes/grid.413235.2
44 schema:familyName Capri
45 schema:givenName Yline
46 rdf:type schema:Person
47 N0d87d56074a04794bbdf44629ac96d34 rdf:first N5af9917140474083b492de887d5579e1
48 rdf:rest N4dfb5a5f350a42e98b3c11977649a2a6
49 N151213860c1d43ff8a020e9e5466efb0 schema:name Department of Clinical Genetics, Sheffield Children’s NHS Trust, Sheffield, United Kingdom
50 rdf:type schema:Organization
51 N19d7e503543f4be2abe813a52b0a8c2a schema:name doi
52 schema:value 10.1038/s41436-019-0460-y
53 rdf:type schema:PropertyValue
54 N250c4e45495f4fa5a03b341f0ac0cf8c schema:affiliation https://www.grid.ac/institutes/grid.270683.8
55 schema:familyName Taylor
56 schema:givenName Jenny C
57 rdf:type schema:Person
58 N254446c532df436a9f628f5cca932e1f rdf:first Na2ea11013f8f4fdba8838f984643ea61
59 rdf:rest Nfc52f0ee332646af82a890c279fe8e05
60 N26f68e2bc86b482bb0a01b9b48248420 schema:affiliation https://www.grid.ac/institutes/grid.5645.2
61 schema:familyName van den Born
62 schema:givenName Myrthe
63 rdf:type schema:Person
64 N2af11117e9d248b1afeec47932ecc7d4 schema:affiliation https://www.grid.ac/institutes/grid.420417.4
65 schema:familyName Borgatti
66 schema:givenName Renato
67 rdf:type schema:Person
68 N2c4a43d3c9594ab599054315be342ff3 rdf:first Nf48a5bfacaf548f18d439c4926ecbd71
69 rdf:rest Ne75075aa09924d8c8b4a2c7507c9991b
70 N303664ae711b4812bad8b5228a980f3b schema:affiliation https://www.grid.ac/institutes/grid.410556.3
71 schema:familyName Hawkes
72 schema:givenName Lara
73 rdf:type schema:Person
74 N314c0fc9fbe44acba1c706d4db8a080e rdf:first N39324d5376284a108ed4dc34b2eba503
75 rdf:rest N0d87d56074a04794bbdf44629ac96d34
76 N320363ea4ecd4729b4e3a48009bca376 schema:name Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France
77 rdf:type schema:Organization
78 N39324d5376284a108ed4dc34b2eba503 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
79 schema:familyName Firth
80 schema:givenName Helen
81 rdf:type schema:Person
82 N49e41401675840878f75afce7cb1e7b4 schema:name dimensions_id
83 schema:value pub.1112223189
84 rdf:type schema:PropertyValue
85 N4dc2999214914862ab1f12504bb6f4ff rdf:first Nc68ec396c976424786f074e4d62c06b0
86 rdf:rest Nb7d4feae234847dcbf4e64e8baa8ba33
87 N4dfb5a5f350a42e98b3c11977649a2a6 rdf:first N5f1be6d1986b44ac96ec30ec96697d1c
88 rdf:rest N8c765ea450db4eebb2b6c048ac49b711
89 N52d3ed1fa67142458c69342b608e318b rdf:first N6fed4775a8854b0fb83b15962804f9f4
90 rdf:rest N972fc6a47b4045c989b8ebb96bc89b1c
91 N55b0cb556ac743c19630dbf2e84fa8df rdf:first N05ac29c6b822453aa19c211c1cf5f1bd
92 rdf:rest Ndeaae62c091945b3901c31150fea7afb
93 N57fa829bce0a47fcb9ae6fef29cc1ed8 rdf:first N9d73100a8c4c4857b4505de8746d6fe5
94 rdf:rest N314c0fc9fbe44acba1c706d4db8a080e
95 N58266759cf3642a58a6f1c8c466331ad rdf:first N02a4309cfe264b5abbfacd7d95464c81
96 rdf:rest N61de3452264547b4922266b6d8139b6a
97 N58f1f333e77540b3884bc6545fa0e919 schema:name APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC “Déficience Intellectuelle et Autisme”, Paris, France
98 rdf:type schema:Organization
99 N5af9917140474083b492de887d5579e1 schema:affiliation https://www.grid.ac/institutes/grid.269014.8
100 schema:familyName Vasudevan
101 schema:givenName Pradeep
102 rdf:type schema:Person
103 N5f1be6d1986b44ac96ec30ec96697d1c schema:affiliation https://www.grid.ac/institutes/grid.269014.8
104 schema:familyName Jones
105 schema:givenName Gabriela
106 rdf:type schema:Person
107 N61de3452264547b4922266b6d8139b6a rdf:first N2af11117e9d248b1afeec47932ecc7d4
108 rdf:rest Ndedde5cba74a43d3be3b111a1cfee8a7
109 N68371da502b743c4ada6a2e07ff47a8e rdf:first Nce744d51579f4c79b183afc34387f6b0
110 rdf:rest Na7686bece49d4ef89d772e4c6089e841
111 N6efbf43243d34bf7bf53e2516df95825 schema:name readcube_id
112 schema:value 2e37fe6e9bce5079951de8f57ad734ed2c6816cde831fba7d72e0dc3994fe716
113 rdf:type schema:PropertyValue
114 N6fed4775a8854b0fb83b15962804f9f4 schema:affiliation https://www.grid.ac/institutes/grid.415719.f
115 schema:familyName Taylor
116 schema:givenName John
117 rdf:type schema:Person
118 N71fbe559b9b04503ae4d982347faa1a7 schema:affiliation https://www.grid.ac/institutes/grid.270683.8
119 schema:familyName Pagnamenta
120 schema:givenName Alistair
121 rdf:type schema:Person
122 N75b727d058cb4c47948197f7681139a4 rdf:first N250c4e45495f4fa5a03b341f0ac0cf8c
123 rdf:rest Nc23bd8a3c48747e9a159d3819341cf42
124 N790ae7a8c45a4574bcaff5a0057cfa92 rdf:first N885f1812bc964e49acfdd9c35785aa28
125 rdf:rest N89fda3d3ba744adeb3ccf106b29669cd
126 N7dd00931462d4a609537b7fc196c5da2 rdf:first Nd00ae7fcb93941008ec56921d41aec9b
127 rdf:rest Nfca2882fa3e545ac97166f1faa0720c2
128 N82f18c08c8714eb5a9c428c2ac65bc9c schema:affiliation https://www.grid.ac/institutes/grid.411266.6
129 schema:familyName Milh
130 schema:givenName Mathieu
131 rdf:type schema:Person
132 N8777003c4e6744c188858fff647c5d76 schema:affiliation https://www.grid.ac/institutes/grid.492672.c
133 schema:familyName Nguyen-Morel
134 schema:givenName Marie-Ange
135 rdf:type schema:Person
136 N885f1812bc964e49acfdd9c35785aa28 schema:affiliation https://www.grid.ac/institutes/grid.8194.4
137 schema:familyName Arsene
138 schema:givenName Oana Tarta
139 rdf:type schema:Person
140 N89fda3d3ba744adeb3ccf106b29669cd rdf:first N0c820373c4774df78d91644045d74a05
141 rdf:rest N52d3ed1fa67142458c69342b608e318b
142 N8c765ea450db4eebb2b6c048ac49b711 rdf:first N8777003c4e6744c188858fff647c5d76
143 rdf:rest N55b0cb556ac743c19630dbf2e84fa8df
144 N972fc6a47b4045c989b8ebb96bc89b1c rdf:first N71fbe559b9b04503ae4d982347faa1a7
145 rdf:rest N75b727d058cb4c47948197f7681139a4
146 N999832fecd2043028d77344b60fb3560 schema:affiliation https://www.grid.ac/institutes/grid.5613.1
147 schema:familyName Philippe
148 schema:givenName Christophe
149 rdf:type schema:Person
150 N9d73100a8c4c4857b4505de8746d6fe5 schema:affiliation N151213860c1d43ff8a020e9e5466efb0
151 schema:familyName Johnson
152 schema:givenName Diana
153 rdf:type schema:Person
154 Na09982c212b246f3a43a1f41a4a80c9b schema:name pubmed_id
155 schema:value 30783266
156 rdf:type schema:PropertyValue
157 Na2ea11013f8f4fdba8838f984643ea61 schema:affiliation N58f1f333e77540b3884bc6545fa0e919
158 schema:familyName Héron
159 schema:givenName Delphine
160 rdf:type schema:Person
161 Na3d4d42bc9ba433aa2aab33a7a8f9208 schema:name Springer Nature - SN SciGraph project
162 rdf:type schema:Organization
163 Na473859db96541ce87f11f9631c76fb8 rdf:first N82f18c08c8714eb5a9c428c2ac65bc9c
164 rdf:rest N58266759cf3642a58a6f1c8c466331ad
165 Na7686bece49d4ef89d772e4c6089e841 rdf:first Nd1b4762ad0c34729ba8301f49a7d2668
166 rdf:rest Nfd329553e32545ebb24c267bf3e5c14d
167 Nac7e35d8d2a14674bd372d5e23ef2e51 schema:affiliation https://www.grid.ac/institutes/grid.157868.5
168 schema:familyName Roubertie
169 schema:givenName Agathe
170 rdf:type schema:Person
171 Nb7d4feae234847dcbf4e64e8baa8ba33 rdf:first N0caf19fecbfa4a32ab1e87fa112b3ab4
172 rdf:rest N254446c532df436a9f628f5cca932e1f
173 Nc23bd8a3c48747e9a159d3819341cf42 rdf:first Ndc60fe8efae44e15a8c00c3e3cb13af6
174 rdf:rest N57fa829bce0a47fcb9ae6fef29cc1ed8
175 Nc2c0d2bf5f56498b811536a62fcfffc3 rdf:first Nd2d6d93bf3ac4f098a94e1b9f8feb176
176 rdf:rest N790ae7a8c45a4574bcaff5a0057cfa92
177 Nc68ec396c976424786f074e4d62c06b0 schema:affiliation https://www.grid.ac/institutes/grid.411154.4
178 schema:familyName Fradin
179 schema:givenName Melanie
180 rdf:type schema:Person
181 Ncbb97027a0254056ad1083f07c82751d schema:affiliation https://www.grid.ac/institutes/grid.420417.4
182 schema:familyName Romaniello
183 schema:givenName Romina
184 rdf:type schema:Person
185 Nce744d51579f4c79b183afc34387f6b0 schema:affiliation N041284577527457ebc55692b251b80ea
186 schema:familyName Mignot
187 schema:givenName Cyril
188 rdf:type schema:Person
189 Nd00ae7fcb93941008ec56921d41aec9b schema:affiliation N320363ea4ecd4729b4e3a48009bca376
190 schema:familyName Piard
191 schema:givenName Juliette
192 rdf:type schema:Person
193 Nd1b4762ad0c34729ba8301f49a7d2668 schema:affiliation https://www.grid.ac/institutes/grid.410556.3
194 schema:familyName Kini
195 schema:givenName Usha
196 rdf:type schema:Person
197 Nd2d6d93bf3ac4f098a94e1b9f8feb176 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
198 schema:familyName Nava
199 schema:givenName Caroline
200 rdf:type schema:Person
201 Ndc60fe8efae44e15a8c00c3e3cb13af6 schema:affiliation https://www.grid.ac/institutes/grid.239553.b
202 schema:familyName Sogawa
203 schema:givenName Yoshimi
204 rdf:type schema:Person
205 Ndeaae62c091945b3901c31150fea7afb rdf:first Nac7e35d8d2a14674bd372d5e23ef2e51
206 rdf:rest Nfaa55db2337b4a138acf68912e2546b6
207 Ndedde5cba74a43d3be3b111a1cfee8a7 rdf:first Ncbb97027a0254056ad1083f07c82751d
208 rdf:rest N4dc2999214914862ab1f12504bb6f4ff
209 Ne45b48bd2a9f4b078b55ed4d8cb103c6 schema:name nlm_unique_id
210 schema:value 9815831
211 rdf:type schema:PropertyValue
212 Ne75075aa09924d8c8b4a2c7507c9991b rdf:first N09284ccbb59e476d95d45c1b2b5ba3c5
213 rdf:rest N68371da502b743c4ada6a2e07ff47a8e
214 Nf48a5bfacaf548f18d439c4926ecbd71 schema:affiliation Nf48ef41e92474420a2fd8ec83f2f4c5f
215 schema:familyName Brischoux-Boucher
216 schema:givenName Elise
217 rdf:type schema:Person
218 Nf48ef41e92474420a2fd8ec83f2f4c5f schema:name Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France
219 rdf:type schema:Organization
220 Nfaa55db2337b4a138acf68912e2546b6 rdf:first N26f68e2bc86b482bb0a01b9b48248420
221 rdf:rest N2c4a43d3c9594ab599054315be342ff3
222 Nfc459917b1774b69bc1fefbb4df99159 schema:affiliation https://www.grid.ac/institutes/grid.413776.0
223 schema:familyName Nougues
224 schema:givenName Marie-Christine
225 rdf:type schema:Person
226 Nfc52f0ee332646af82a890c279fe8e05 rdf:first Nfc459917b1774b69bc1fefbb4df99159
227 rdf:rest Nc2c0d2bf5f56498b811536a62fcfffc3
228 Nfca2882fa3e545ac97166f1faa0720c2 rdf:first N303664ae711b4812bad8b5228a980f3b
229 rdf:rest Na473859db96541ce87f11f9631c76fb8
230 Nfd329553e32545ebb24c267bf3e5c14d rdf:first N999832fecd2043028d77344b60fb3560
231 rdf:rest rdf:nil
232 sg:journal.1119411 schema:issn 1098-3600
233 1530-0366
234 schema:name Genetics in Medicine
235 rdf:type schema:Periodical
236 https://www.grid.ac/institutes/grid.10306.34 schema:alternateName Wellcome Sanger Institute
237 schema:name Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
238 Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK
239 rdf:type schema:Organization
240 https://www.grid.ac/institutes/grid.121334.6 schema:alternateName University of Montpellier
241 schema:name EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, Montpellier, France
242 rdf:type schema:Organization
243 https://www.grid.ac/institutes/grid.157868.5 schema:alternateName University Hospital of Montpellier
244 schema:name Département de Neuropédiatrie, Centre Hospitalier Universitaire de Montpellier, INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France
245 rdf:type schema:Organization
246 https://www.grid.ac/institutes/grid.239553.b schema:alternateName Children's Hospital of Pittsburgh
247 schema:name Division of Pediatric Neurology, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA
248 rdf:type schema:Organization
249 https://www.grid.ac/institutes/grid.269014.8 schema:alternateName University Hospitals of Leicester NHS Trust
250 schema:name Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK
251 rdf:type schema:Organization
252 https://www.grid.ac/institutes/grid.270683.8 schema:alternateName Wellcome Centre for Human Genetics
253 schema:name NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
254 rdf:type schema:Organization
255 https://www.grid.ac/institutes/grid.410556.3 schema:alternateName Oxford University Hospitals NHS Trust
256 schema:name Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
257 rdf:type schema:Organization
258 https://www.grid.ac/institutes/grid.411154.4 schema:alternateName Centre Hospitalier Universitaire de Rennes
259 schema:name Service de Génétique, CLAD Ouest, CHU Rennes, Rennes, France
260 rdf:type schema:Organization
261 https://www.grid.ac/institutes/grid.411266.6 schema:alternateName Hôpital de la Timone
262 schema:name Aix Marseille Univ, Inserm, MMG, Marseille, France
263 Medical Genetics, La Timone Children’s Hospital, AP-HM, Marseille, France
264 Pediatric Neurology, La Timone Children’s Hospital, AP-HM, Marseille, France
265 rdf:type schema:Organization
266 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
267 schema:name Département de Génétique, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
268 rdf:type schema:Organization
269 https://www.grid.ac/institutes/grid.413235.2 schema:alternateName Hôpital Robert Debré
270 schema:name Département de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France
271 rdf:type schema:Organization
272 https://www.grid.ac/institutes/grid.413776.0 schema:alternateName Hôpital Armand Trousseau
273 schema:name Neuropédiatrie et Unité d’électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l’EST parisien et DHU I2B, Hôpital d’Enfants Armand Trousseau, Paris, France
274 rdf:type schema:Organization
275 https://www.grid.ac/institutes/grid.415719.f schema:alternateName Churchill Hospital
276 schema:name Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford, UK
277 rdf:type schema:Organization
278 https://www.grid.ac/institutes/grid.420417.4 schema:alternateName Eugenio Medea
279 schema:name Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy
280 rdf:type schema:Organization
281 https://www.grid.ac/institutes/grid.492672.c schema:alternateName Hôpital Couple Enfant
282 schema:name Service de Neurologie pédiatrique, Hopital Couple Enfant, CHU Grenoble Alpes, Grenoble, France
283 rdf:type schema:Organization
284 https://www.grid.ac/institutes/grid.5613.1 schema:alternateName University of Burgundy
285 schema:name INSERM 1231, LNC UMR1231 GAD, Burgundy University, Dijon, France
286 Laboratoire de génétique, Innovations en diagnostic génomique des maladies rares, Plateau Technique de Biologie, CHU Dijon, Dijon, France
287 rdf:type schema:Organization
288 https://www.grid.ac/institutes/grid.5645.2 schema:alternateName Erasmus University Medical Center
289 schema:name Department for Clinical Genetics, Erasmus MC, Rotterdam, Netherlands
290 rdf:type schema:Organization
291 https://www.grid.ac/institutes/grid.8194.4 schema:alternateName Carol Davila University of Medicine and Pharmacy
292 schema:name Pediatric Neurology Clinic, “Alexandru Obregia” Clinical Psychiatry Hospital, “Carol Davila” University of Medicine, Bucharest, Romania
293 rdf:type schema:Organization
 




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


...