Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn

ABSTRACT

BACKGROUND: Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused by truncating mutations of CLCN5 in the majority of affected cases. CASE PRESENTATION: Here, we present clinical and molecular findings in a male patient with clinical signs of Dent disease, developmental delay, short stature, microcephaly, and facial dysmorphism. Using molecular karyotyping we identified a hemizygous interstitial microdeletion Xp11.23p.11.22 of about 700 kb, which was inherited from his asymptomatic mother. Among the six deleted genes is CLCN5, which explains the renal phenotype in our patient. SHROOM4, which is partially deleted in this patient, is involved in neuronal development and was shown to be associated with X-linked intellectual disability. This is a candidate gene, the loss of which is thought to be associated with his further clinical manifestations. To rule out mutations in other genes related to intellectual disability, whole exome sequencing was performed. No other pathogenic variants that could explain the phenotypic features, were found. CONCLUSION: We compared the clinical findings of the patient presented here with the reported case with an Xp11.22 microdeletion including CLCN5 and SHROOM4 and re-defined the phenotypic spectrum associated with this microdeletion. More... »

PAGES

6

Journal

TITLE

BMC Medical Genomics

ISSUE

1

VOLUME

12

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12920-018-0471-6

DOI

http://dx.doi.org/10.1186/s12920-018-0471-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111319126

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30630535


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": {
          "name": [
            "Institute of Medical Genetics and Human Genetics, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Danyel", 
        "givenName": "Magdalena", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Praxis f\u00fcr Humangenetik-Friedrichstrasse, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Suk", 
        "givenName": "Eun Kyung", 
        "id": "sg:person.01167547063.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167547063.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Charit\u00e9", 
          "id": "https://www.grid.ac/institutes/grid.6363.0", 
          "name": [
            "Department of Pediatric Neurology, Sozialp\u00e4diatrisches Zentrum (SPZ), Center for Chronically Sick Children, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Germany, corporate member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Raile", 
        "givenName": "Vera", 
        "id": "sg:person.013476154017.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013476154017.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatric Nephrology, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gellermann", 
        "givenName": "Jutta", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Bonn", 
          "id": "https://www.grid.ac/institutes/grid.15090.3d", 
          "name": [
            "Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Knaus", 
        "givenName": "Alexej", 
        "id": "sg:person.01366641255.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366641255.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute of Medical Genetics and Human Genetics, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Horn", 
        "givenName": "Denise", 
        "id": "sg:person.01035750745.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035750745.43"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1136/jmedgenet-2015-103568", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007361237"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182217a3a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009028405", 
          "https://doi.org/10.1097/gim.0b013e3182217a3a"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182217a3a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009028405", 
          "https://doi.org/10.1097/gim.0b013e3182217a3a"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/379445a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012692443", 
          "https://doi.org/10.1038/379445a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.36807", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013393192"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/bts462", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015488047"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13039-015-0107-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016944014", 
          "https://doi.org/10.1186/s13039-015-0107-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13039-015-0107-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016944014", 
          "https://doi.org/10.1186/s13039-015-0107-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-0072-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018995313", 
          "https://doi.org/10.1007/s00439-005-0072-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-0072-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018995313", 
          "https://doi.org/10.1007/s00439-005-0072-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-0072-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018995313", 
          "https://doi.org/10.1007/s00439-005-0072-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10815-014-0342-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019303886", 
          "https://doi.org/10.1007/s10815-014-0342-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nmeth.2890", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020782180", 
          "https://doi.org/10.1038/nmeth.2890"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00467-016-3343-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025489046", 
          "https://doi.org/10.1007/s00467-016-3343-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00467-016-3343-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025489046", 
          "https://doi.org/10.1007/s00467-016-3343-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1196/annals.1429.019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030588902"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.107524.110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032096953"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.20021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034395570"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp324", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038266369"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.39.205.240", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039148737"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22049", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044263752"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/cm.20167", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048325825"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/427887", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058715349"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-12", 
    "datePublishedReg": "2019-12-01", 
    "description": "BACKGROUND: Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused by truncating mutations of CLCN5 in the majority of affected cases.\nCASE PRESENTATION: Here, we present clinical and molecular findings in a male patient with clinical signs of Dent disease, developmental delay, short stature, microcephaly, and facial dysmorphism. Using molecular karyotyping we identified a hemizygous interstitial microdeletion Xp11.23p.11.22 of about 700\u2009kb, which was inherited from his asymptomatic mother. Among the six deleted genes is CLCN5, which explains the renal phenotype in our patient. SHROOM4, which is partially deleted in this patient, is involved in neuronal development and was shown to be associated with X-linked intellectual disability. This is a candidate gene, the loss of which is thought to be associated with his further clinical manifestations. To rule out mutations in other genes related to intellectual disability, whole exome sequencing was performed. No other pathogenic variants that could explain the phenotypic features, were found.\nCONCLUSION: We compared the clinical findings of the patient presented here with the reported case with an Xp11.22 microdeletion including CLCN5 and SHROOM4 and re-defined the phenotypic spectrum associated with this microdeletion.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s12920-018-0471-6", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1039191", 
        "issn": [
          "1755-8794"
        ], 
        "name": "BMC Medical Genomics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "12"
      }
    ], 
    "name": "Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report", 
    "pagination": "6", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "4e8e4e396d5a0528d4bc3039c628ff9c9847af5cc5e4132e1c32e0d4cdfff921"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30630535"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101319628"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s12920-018-0471-6"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1111319126"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s12920-018-0471-6", 
      "https://app.dimensions.ai/details/publication/pub.1111319126"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T08:41", 
    "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/v90/0000000320_0000000320/records_101381_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs12920-018-0471-6"
  }
]
 

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.10.1186/s12920-018-0471-6'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12920-018-0471-6'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12920-018-0471-6'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12920-018-0471-6'


 

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

173 TRIPLES      21 PREDICATES      47 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s12920-018-0471-6 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Nf14ee02d267d4ae9a6c3e50716836f93
4 schema:citation sg:pub.10.1007/s00439-005-0072-2
5 sg:pub.10.1007/s00467-016-3343-3
6 sg:pub.10.1007/s10815-014-0342-9
7 sg:pub.10.1038/379445a0
8 sg:pub.10.1038/nmeth.2890
9 sg:pub.10.1097/gim.0b013e3182217a3a
10 sg:pub.10.1186/s13039-015-0107-x
11 https://doi.org/10.1002/ajmg.a.20021
12 https://doi.org/10.1002/ajmg.a.36807
13 https://doi.org/10.1002/cm.20167
14 https://doi.org/10.1002/humu.22049
15 https://doi.org/10.1086/427887
16 https://doi.org/10.1093/bioinformatics/btp324
17 https://doi.org/10.1093/bioinformatics/bts462
18 https://doi.org/10.1101/gr.107524.110
19 https://doi.org/10.1136/adc.39.205.240
20 https://doi.org/10.1136/jmedgenet-2015-103568
21 https://doi.org/10.1196/annals.1429.019
22 schema:datePublished 2019-12
23 schema:datePublishedReg 2019-12-01
24 schema:description BACKGROUND: Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused by truncating mutations of CLCN5 in the majority of affected cases. CASE PRESENTATION: Here, we present clinical and molecular findings in a male patient with clinical signs of Dent disease, developmental delay, short stature, microcephaly, and facial dysmorphism. Using molecular karyotyping we identified a hemizygous interstitial microdeletion Xp11.23p.11.22 of about 700 kb, which was inherited from his asymptomatic mother. Among the six deleted genes is CLCN5, which explains the renal phenotype in our patient. SHROOM4, which is partially deleted in this patient, is involved in neuronal development and was shown to be associated with X-linked intellectual disability. This is a candidate gene, the loss of which is thought to be associated with his further clinical manifestations. To rule out mutations in other genes related to intellectual disability, whole exome sequencing was performed. No other pathogenic variants that could explain the phenotypic features, were found. CONCLUSION: We compared the clinical findings of the patient presented here with the reported case with an Xp11.22 microdeletion including CLCN5 and SHROOM4 and re-defined the phenotypic spectrum associated with this microdeletion.
25 schema:genre research_article
26 schema:inLanguage en
27 schema:isAccessibleForFree true
28 schema:isPartOf N84e02fc8fab548a99aabb56f8dc0477c
29 Nda9059a5a8ec43e5bf5d33cf6d77ae2f
30 sg:journal.1039191
31 schema:name Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
32 schema:pagination 6
33 schema:productId N3b9e82089c8b45308e012bfe9f6de86e
34 N425ac18d9f1947ceafcf359c979cf31e
35 N576c95b0c366425eba8eabeb5e43a74e
36 N91b8d8a2338d4cd184bd9e9c79f60849
37 Nae7e0e7aa6b5490882910d16d814a7a6
38 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111319126
39 https://doi.org/10.1186/s12920-018-0471-6
40 schema:sdDatePublished 2019-04-11T08:41
41 schema:sdLicense https://scigraph.springernature.com/explorer/license/
42 schema:sdPublisher N74584777ff6b44dfb141b54999940743
43 schema:url https://link.springer.com/10.1186%2Fs12920-018-0471-6
44 sgo:license sg:explorer/license/
45 sgo:sdDataset articles
46 rdf:type schema:ScholarlyArticle
47 N0294259e354a4bb39a533c1b2d76846c rdf:first sg:person.01035750745.43
48 rdf:rest rdf:nil
49 N11a14aee496546fba85cb3690ca5ed16 schema:name Praxis für Humangenetik-Friedrichstrasse, Berlin, Germany
50 rdf:type schema:Organization
51 N17375048c7094f20b48fc8f1e16ecae5 schema:affiliation Nc069ff80a3614d0fb43e604ceafbdd80
52 schema:familyName Danyel
53 schema:givenName Magdalena
54 rdf:type schema:Person
55 N3b9e82089c8b45308e012bfe9f6de86e schema:name dimensions_id
56 schema:value pub.1111319126
57 rdf:type schema:PropertyValue
58 N425ac18d9f1947ceafcf359c979cf31e schema:name doi
59 schema:value 10.1186/s12920-018-0471-6
60 rdf:type schema:PropertyValue
61 N576c95b0c366425eba8eabeb5e43a74e schema:name pubmed_id
62 schema:value 30630535
63 rdf:type schema:PropertyValue
64 N6af8d83a060d4548963dc3ac72b738ce schema:name Department of Pediatric Nephrology, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
65 rdf:type schema:Organization
66 N74584777ff6b44dfb141b54999940743 schema:name Springer Nature - SN SciGraph project
67 rdf:type schema:Organization
68 N7bcc3089a7114401bfdd97b8f5fe25d8 schema:affiliation N6af8d83a060d4548963dc3ac72b738ce
69 schema:familyName Gellermann
70 schema:givenName Jutta
71 rdf:type schema:Person
72 N84e02fc8fab548a99aabb56f8dc0477c schema:volumeNumber 12
73 rdf:type schema:PublicationVolume
74 N8972a72884e446e9989bdeb65a050ca6 rdf:first sg:person.01366641255.60
75 rdf:rest N0294259e354a4bb39a533c1b2d76846c
76 N8aa2e5629498429b89155cb506d6cccf rdf:first sg:person.013476154017.09
77 rdf:rest Nd85941f1d5c7488bb4d2f71617cd5b99
78 N91b8d8a2338d4cd184bd9e9c79f60849 schema:name readcube_id
79 schema:value 4e8e4e396d5a0528d4bc3039c628ff9c9847af5cc5e4132e1c32e0d4cdfff921
80 rdf:type schema:PropertyValue
81 N9ed3292e3fa74071a422978cac7a3c30 schema:name Institute of Medical Genetics and Human Genetics, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
82 rdf:type schema:Organization
83 Nae7e0e7aa6b5490882910d16d814a7a6 schema:name nlm_unique_id
84 schema:value 101319628
85 rdf:type schema:PropertyValue
86 Naf796a124a4c48e9ae3cea771cc01543 rdf:first sg:person.01167547063.17
87 rdf:rest N8aa2e5629498429b89155cb506d6cccf
88 Nc069ff80a3614d0fb43e604ceafbdd80 schema:name Institute of Medical Genetics and Human Genetics, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
89 rdf:type schema:Organization
90 Nd85941f1d5c7488bb4d2f71617cd5b99 rdf:first N7bcc3089a7114401bfdd97b8f5fe25d8
91 rdf:rest N8972a72884e446e9989bdeb65a050ca6
92 Nda9059a5a8ec43e5bf5d33cf6d77ae2f schema:issueNumber 1
93 rdf:type schema:PublicationIssue
94 Nf14ee02d267d4ae9a6c3e50716836f93 rdf:first N17375048c7094f20b48fc8f1e16ecae5
95 rdf:rest Naf796a124a4c48e9ae3cea771cc01543
96 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
97 schema:name Biological Sciences
98 rdf:type schema:DefinedTerm
99 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
100 schema:name Genetics
101 rdf:type schema:DefinedTerm
102 sg:journal.1039191 schema:issn 1755-8794
103 schema:name BMC Medical Genomics
104 rdf:type schema:Periodical
105 sg:person.01035750745.43 schema:affiliation N9ed3292e3fa74071a422978cac7a3c30
106 schema:familyName Horn
107 schema:givenName Denise
108 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035750745.43
109 rdf:type schema:Person
110 sg:person.01167547063.17 schema:affiliation N11a14aee496546fba85cb3690ca5ed16
111 schema:familyName Suk
112 schema:givenName Eun Kyung
113 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167547063.17
114 rdf:type schema:Person
115 sg:person.013476154017.09 schema:affiliation https://www.grid.ac/institutes/grid.6363.0
116 schema:familyName Raile
117 schema:givenName Vera
118 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013476154017.09
119 rdf:type schema:Person
120 sg:person.01366641255.60 schema:affiliation https://www.grid.ac/institutes/grid.15090.3d
121 schema:familyName Knaus
122 schema:givenName Alexej
123 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366641255.60
124 rdf:type schema:Person
125 sg:pub.10.1007/s00439-005-0072-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018995313
126 https://doi.org/10.1007/s00439-005-0072-2
127 rdf:type schema:CreativeWork
128 sg:pub.10.1007/s00467-016-3343-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025489046
129 https://doi.org/10.1007/s00467-016-3343-3
130 rdf:type schema:CreativeWork
131 sg:pub.10.1007/s10815-014-0342-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019303886
132 https://doi.org/10.1007/s10815-014-0342-9
133 rdf:type schema:CreativeWork
134 sg:pub.10.1038/379445a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012692443
135 https://doi.org/10.1038/379445a0
136 rdf:type schema:CreativeWork
137 sg:pub.10.1038/nmeth.2890 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020782180
138 https://doi.org/10.1038/nmeth.2890
139 rdf:type schema:CreativeWork
140 sg:pub.10.1097/gim.0b013e3182217a3a schema:sameAs https://app.dimensions.ai/details/publication/pub.1009028405
141 https://doi.org/10.1097/gim.0b013e3182217a3a
142 rdf:type schema:CreativeWork
143 sg:pub.10.1186/s13039-015-0107-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1016944014
144 https://doi.org/10.1186/s13039-015-0107-x
145 rdf:type schema:CreativeWork
146 https://doi.org/10.1002/ajmg.a.20021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034395570
147 rdf:type schema:CreativeWork
148 https://doi.org/10.1002/ajmg.a.36807 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013393192
149 rdf:type schema:CreativeWork
150 https://doi.org/10.1002/cm.20167 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048325825
151 rdf:type schema:CreativeWork
152 https://doi.org/10.1002/humu.22049 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044263752
153 rdf:type schema:CreativeWork
154 https://doi.org/10.1086/427887 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058715349
155 rdf:type schema:CreativeWork
156 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
157 rdf:type schema:CreativeWork
158 https://doi.org/10.1093/bioinformatics/bts462 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015488047
159 rdf:type schema:CreativeWork
160 https://doi.org/10.1101/gr.107524.110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032096953
161 rdf:type schema:CreativeWork
162 https://doi.org/10.1136/adc.39.205.240 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039148737
163 rdf:type schema:CreativeWork
164 https://doi.org/10.1136/jmedgenet-2015-103568 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007361237
165 rdf:type schema:CreativeWork
166 https://doi.org/10.1196/annals.1429.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030588902
167 rdf:type schema:CreativeWork
168 https://www.grid.ac/institutes/grid.15090.3d schema:alternateName University Hospital Bonn
169 schema:name Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Berlin, Germany
170 rdf:type schema:Organization
171 https://www.grid.ac/institutes/grid.6363.0 schema:alternateName Charité
172 schema:name Department of Pediatric Neurology, Sozialpädiatrisches Zentrum (SPZ), Center for Chronically Sick Children, Charité – Universitätsmedizin Berlin, Germany, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
173 rdf:type schema:Organization
 




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


...