American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-06-15

AUTHORS

Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South,

ABSTRACT

Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting. More... »

PAGES

680-685

Identifiers

URI

http://scigraph.springernature.com/pub.10.1097/gim.0b013e3182217a3a

DOI

http://dx.doi.org/10.1097/gim.0b013e3182217a3a

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009028405

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21681106


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/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Autistic Disorder", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Clinical Laboratory Techniques", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Developmental Disabilities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Dosage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Variation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetics, Medical", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genome, Human", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Intellectual Disability", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microarray Analysis", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Fullerton Genetics Center, Mission Health System, Asheville, North Carolina", 
          "id": "http://www.grid.ac/institutes/grid.429672.c", 
          "name": [
            "Fullerton Genetics Center, Mission Health System, Asheville, North Carolina"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kearney", 
        "givenName": "Hutton M", 
        "id": "sg:person.01331314402.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331314402.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota", 
          "id": "http://www.grid.ac/institutes/grid.66875.3a", 
          "name": [
            "Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thorland", 
        "givenName": "Erik C", 
        "id": "sg:person.01212071740.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212071740.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts", 
          "id": "http://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brown", 
        "givenName": "Kerry K", 
        "id": "sg:person.01300624620.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300624620.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, California", 
          "id": "http://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, California"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Quintero-Rivera", 
        "givenName": "Fabiola", 
        "id": "sg:person.01072346064.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072346064.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Departments of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah", 
          "id": "http://www.grid.ac/institutes/grid.223827.e", 
          "name": [
            "Departments of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah"
          ], 
          "type": "Organization"
        }, 
        "familyName": "South", 
        "givenName": "Sarah T", 
        "id": "sg:person.0673103367.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673103367.79"
        ], 
        "type": "Person"
      }, 
      {}
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s00439-008-0513-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013388135", 
          "https://doi.org/10.1007/s00439-008-0513-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng2123", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029414125", 
          "https://doi.org/10.1038/ng2123"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1010-813", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019521651", 
          "https://doi.org/10.1038/ng1010-813"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng2092", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045103135", 
          "https://doi.org/10.1038/ng2092"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1416", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002767840", 
          "https://doi.org/10.1038/ng1416"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2011-06-15", 
    "datePublishedReg": "2011-06-15", 
    "description": "Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting.", 
    "genre": "article", 
    "id": "sg:pub.10.1097/gim.0b013e3182217a3a", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "publisher": "Elsevier", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "7", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "13"
      }
    ], 
    "keywords": [
      "American College", 
      "multiple congenital anomalies", 
      "copy number variants", 
      "first-tier test", 
      "widespread copy number variation", 
      "constitutional copy number variants", 
      "Medical Genetics standards", 
      "postnatal evaluation", 
      "congenital anomalies", 
      "healthy individuals", 
      "copy number variations", 
      "number variants", 
      "DNA copy number", 
      "postnatal setting", 
      "intellectual disability", 
      "clinical laboratories", 
      "number variations", 
      "copy number imbalances", 
      "professional guidelines", 
      "microarray results", 
      "polymorphic variation", 
      "autism spectrum disorder", 
      "spectrum disorder", 
      "guidelines", 
      "Medical Genetics", 
      "human genome", 
      "genomic microarrays", 
      "number imbalances", 
      "reporting", 
      "copy number", 
      "evaluation", 
      "individuals", 
      "genetic standard", 
      "disorders", 
      "variants", 
      "disability", 
      "College", 
      "microarrays", 
      "setting", 
      "imbalance", 
      "genome", 
      "genetics", 
      "test", 
      "variation", 
      "anomalies", 
      "laboratory", 
      "discovery", 
      "number", 
      "standards", 
      "results", 
      "consistency", 
      "interpretation", 
      "applications", 
      "technology", 
      "novel pathogenic copy number imbalances", 
      "pathogenic copy number imbalances", 
      "genomic microarray results", 
      "following professional guidelines", 
      "postnatal constitutional copy number variants"
    ], 
    "name": "American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants", 
    "pagination": "680-685", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1009028405"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1097/gim.0b013e3182217a3a"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "21681106"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1097/gim.0b013e3182217a3a", 
      "https://app.dimensions.ai/details/publication/pub.1009028405"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-01-01T18:25", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_549.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1097/gim.0b013e3182217a3a"
  }
]
 

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.10.1097/gim.0b013e3182217a3a'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1097/gim.0b013e3182217a3a'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1097/gim.0b013e3182217a3a'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1097/gim.0b013e3182217a3a'


 

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

231 TRIPLES      22 PREDICATES      102 URIs      89 LITERALS      19 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1097/gim.0b013e3182217a3a schema:about N118820a9f553422c8389c4a4740e7efa
2 N1cee82282ebd480f942813e2fef9f423
3 N33ceca1896be4f7a9807e0cd91e37a79
4 N4512a390347e4c688113944af2f8f51d
5 N5af179b8d25b4c168f267c33ed992dcc
6 N6b1bf96d84534151a90d80dfd44d0988
7 N84113e62f6244313a1c59c47204a67b9
8 N9fb76511a6004bfba2b56158a284ca21
9 Na371244e58064202bfa07d252b87b5eb
10 Nb4289fb646ec49279676efea21b399b8
11 Nbd0b46425ec9497f91c2f7c4eb2247ef
12 Nf590b9370359485daf8eb7000d6e482e
13 anzsrc-for:06
14 anzsrc-for:0604
15 schema:author N8ddfdf4030be4594b610a3f0477a5b4c
16 schema:citation sg:pub.10.1007/s00439-008-0513-9
17 sg:pub.10.1038/ng1010-813
18 sg:pub.10.1038/ng1416
19 sg:pub.10.1038/ng2092
20 sg:pub.10.1038/ng2123
21 schema:datePublished 2011-06-15
22 schema:datePublishedReg 2011-06-15
23 schema:description Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting.
24 schema:genre article
25 schema:inLanguage en
26 schema:isAccessibleForFree true
27 schema:isPartOf N96d644be1f6343638d029aac1946a924
28 N97cd27df718845218946fac7b8b5c2e1
29 sg:journal.1119411
30 schema:keywords American College
31 College
32 DNA copy number
33 Medical Genetics
34 Medical Genetics standards
35 anomalies
36 applications
37 autism spectrum disorder
38 clinical laboratories
39 congenital anomalies
40 consistency
41 constitutional copy number variants
42 copy number
43 copy number imbalances
44 copy number variants
45 copy number variations
46 disability
47 discovery
48 disorders
49 evaluation
50 first-tier test
51 following professional guidelines
52 genetic standard
53 genetics
54 genome
55 genomic microarray results
56 genomic microarrays
57 guidelines
58 healthy individuals
59 human genome
60 imbalance
61 individuals
62 intellectual disability
63 interpretation
64 laboratory
65 microarray results
66 microarrays
67 multiple congenital anomalies
68 novel pathogenic copy number imbalances
69 number
70 number imbalances
71 number variants
72 number variations
73 pathogenic copy number imbalances
74 polymorphic variation
75 postnatal constitutional copy number variants
76 postnatal evaluation
77 postnatal setting
78 professional guidelines
79 reporting
80 results
81 setting
82 spectrum disorder
83 standards
84 technology
85 test
86 variants
87 variation
88 widespread copy number variation
89 schema:name American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
90 schema:pagination 680-685
91 schema:productId N5b155378018d4793aa65af495a5785a6
92 Neb2147f122794ba884de4dfe6f5acd46
93 Nf26cd28c156e42d5b16a806a40d6d16e
94 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009028405
95 https://doi.org/10.1097/gim.0b013e3182217a3a
96 schema:sdDatePublished 2022-01-01T18:25
97 schema:sdLicense https://scigraph.springernature.com/explorer/license/
98 schema:sdPublisher Nc1bbbddbe2f344e99bfd2f755fa7db63
99 schema:url https://doi.org/10.1097/gim.0b013e3182217a3a
100 sgo:license sg:explorer/license/
101 sgo:sdDataset articles
102 rdf:type schema:ScholarlyArticle
103 N118820a9f553422c8389c4a4740e7efa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Abnormalities, Multiple
105 rdf:type schema:DefinedTerm
106 N1cee82282ebd480f942813e2fef9f423 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Humans
108 rdf:type schema:DefinedTerm
109 N33ceca1896be4f7a9807e0cd91e37a79 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Clinical Laboratory Techniques
111 rdf:type schema:DefinedTerm
112 N42280f877a1144dd8378946274e4201e rdf:first sg:person.0673103367.79
113 rdf:rest N7f1348a8fcd547b48c26b886301c6ff3
114 N4512a390347e4c688113944af2f8f51d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Microarray Analysis
116 rdf:type schema:DefinedTerm
117 N5af179b8d25b4c168f267c33ed992dcc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Autistic Disorder
119 rdf:type schema:DefinedTerm
120 N5b155378018d4793aa65af495a5785a6 schema:name pubmed_id
121 schema:value 21681106
122 rdf:type schema:PropertyValue
123 N6b1bf96d84534151a90d80dfd44d0988 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Gene Dosage
125 rdf:type schema:DefinedTerm
126 N7f1348a8fcd547b48c26b886301c6ff3 rdf:first N69c0bd32851f4e9c80a44aab11edd0d9
127 rdf:rest rdf:nil
128 N84113e62f6244313a1c59c47204a67b9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Genetics, Medical
130 rdf:type schema:DefinedTerm
131 N86b81c4d70c84620a348845458b3befd rdf:first sg:person.01212071740.29
132 rdf:rest Nf46c8bdca823454e8ead6fe6472ef6d5
133 N8ddfdf4030be4594b610a3f0477a5b4c rdf:first sg:person.01331314402.35
134 rdf:rest N86b81c4d70c84620a348845458b3befd
135 N96d644be1f6343638d029aac1946a924 schema:volumeNumber 13
136 rdf:type schema:PublicationVolume
137 N97cd27df718845218946fac7b8b5c2e1 schema:issueNumber 7
138 rdf:type schema:PublicationIssue
139 N9fb76511a6004bfba2b56158a284ca21 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Child
141 rdf:type schema:DefinedTerm
142 Na371244e58064202bfa07d252b87b5eb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Developmental Disabilities
144 rdf:type schema:DefinedTerm
145 Nb4289fb646ec49279676efea21b399b8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Intellectual Disability
147 rdf:type schema:DefinedTerm
148 Nbd0b46425ec9497f91c2f7c4eb2247ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Genome, Human
150 rdf:type schema:DefinedTerm
151 Nc145d134579446e6815b197307eff1de rdf:first sg:person.01072346064.43
152 rdf:rest N42280f877a1144dd8378946274e4201e
153 Nc1bbbddbe2f344e99bfd2f755fa7db63 schema:name Springer Nature - SN SciGraph project
154 rdf:type schema:Organization
155 Neb2147f122794ba884de4dfe6f5acd46 schema:name doi
156 schema:value 10.1097/gim.0b013e3182217a3a
157 rdf:type schema:PropertyValue
158 Nf26cd28c156e42d5b16a806a40d6d16e schema:name dimensions_id
159 schema:value pub.1009028405
160 rdf:type schema:PropertyValue
161 Nf46c8bdca823454e8ead6fe6472ef6d5 rdf:first sg:person.01300624620.84
162 rdf:rest Nc145d134579446e6815b197307eff1de
163 Nf590b9370359485daf8eb7000d6e482e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
164 schema:name Genetic Variation
165 rdf:type schema:DefinedTerm
166 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
167 schema:name Biological Sciences
168 rdf:type schema:DefinedTerm
169 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
170 schema:name Genetics
171 rdf:type schema:DefinedTerm
172 sg:journal.1119411 schema:issn 1098-3600
173 1530-0366
174 schema:name Genetics in Medicine
175 schema:publisher Elsevier
176 rdf:type schema:Periodical
177 sg:person.01072346064.43 schema:affiliation grid-institutes:grid.19006.3e
178 schema:familyName Quintero-Rivera
179 schema:givenName Fabiola
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072346064.43
181 rdf:type schema:Person
182 sg:person.01212071740.29 schema:affiliation grid-institutes:grid.66875.3a
183 schema:familyName Thorland
184 schema:givenName Erik C
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212071740.29
186 rdf:type schema:Person
187 sg:person.01300624620.84 schema:affiliation grid-institutes:grid.38142.3c
188 schema:familyName Brown
189 schema:givenName Kerry K
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300624620.84
191 rdf:type schema:Person
192 sg:person.01331314402.35 schema:affiliation grid-institutes:grid.429672.c
193 schema:familyName Kearney
194 schema:givenName Hutton M
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331314402.35
196 rdf:type schema:Person
197 sg:person.0673103367.79 schema:affiliation grid-institutes:grid.223827.e
198 schema:familyName South
199 schema:givenName Sarah T
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673103367.79
201 rdf:type schema:Person
202 sg:pub.10.1007/s00439-008-0513-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013388135
203 https://doi.org/10.1007/s00439-008-0513-9
204 rdf:type schema:CreativeWork
205 sg:pub.10.1038/ng1010-813 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019521651
206 https://doi.org/10.1038/ng1010-813
207 rdf:type schema:CreativeWork
208 sg:pub.10.1038/ng1416 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002767840
209 https://doi.org/10.1038/ng1416
210 rdf:type schema:CreativeWork
211 sg:pub.10.1038/ng2092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045103135
212 https://doi.org/10.1038/ng2092
213 rdf:type schema:CreativeWork
214 sg:pub.10.1038/ng2123 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029414125
215 https://doi.org/10.1038/ng2123
216 rdf:type schema:CreativeWork
217 grid-institutes:grid.19006.3e schema:alternateName Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, California
218 schema:name Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, California
219 rdf:type schema:Organization
220 grid-institutes:grid.223827.e schema:alternateName Departments of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah
221 schema:name Departments of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah
222 rdf:type schema:Organization
223 grid-institutes:grid.38142.3c schema:alternateName Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts
224 schema:name Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts
225 rdf:type schema:Organization
226 grid-institutes:grid.429672.c schema:alternateName Fullerton Genetics Center, Mission Health System, Asheville, North Carolina
227 schema:name Fullerton Genetics Center, Mission Health System, Asheville, North Carolina
228 rdf:type schema:Organization
229 grid-institutes:grid.66875.3a schema:alternateName Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota
230 schema:name Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota
231 rdf:type schema:Organization
 




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


...