{"id":"https://openalex.org/W2938890164","doi":null,"title":"EXPLAINING RARE MENDELIAN PHENOTYPES: EXOME SEQUENCING AND FUNCTIONAL ANALYSIS OF SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY","display_name":"EXPLAINING RARE MENDELIAN PHENOTYPES: EXOME SEQUENCING AND FUNCTIONAL ANALYSIS OF SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY","publication_year":2017,"publication_date":"2017-12-28","ids":{"openalex":"https://openalex.org/W2938890164","mag":"2938890164"},"language":"en","primary_location":{"id":"mag:2938890164","doi":null,"is_oa":false,"landing_page_url":"https://jscholarship.library.jhu.edu/handle/1774.2/59136","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066506292","display_name":"Julie A. Jurgens","orcid":"https://orcid.org/0000-0003-4822-9384","observed_orcids":["https://orcid.org/0000-0003-4822-9384"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Julie A. Jurgens","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-4822-9384","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5066506292"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7304999828338623,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7304999828338623,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.20399999618530273,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.03629999980330467,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8619999885559082},{"id":"https://openalex.org/keywords/functional-analysis","display_name":"functional analysis","score":0.8529999852180481},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.847000002861023},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.7269999980926514},{"id":"https://openalex.org/keywords/retinal-degeneration","display_name":"retinal degeneration","score":0.7239999771118164}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.8291927576065063},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.7464520931243896},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6235743165016174},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5626320838928223},{"id":"https://openalex.org/C2777017193","wikidata":"https://www.wikidata.org/wiki/Q4162411","display_name":"Dystrophy","level":2,"score":0.4695860743522644},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.46866166591644287},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42170485854148865},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3321946859359741},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13394013047218323}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2938890164","doi":null,"is_oa":false,"landing_page_url":"https://jscholarship.library.jhu.edu/handle/1774.2/59136","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9074000120162964}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":47,"referenced_works":["https://openalex.org/W1487624404","https://openalex.org/W1568655920","https://openalex.org/W1701211704","https://openalex.org/W1966644930","https://openalex.org/W1967968986","https://openalex.org/W1971144365","https://openalex.org/W1977709885","https://openalex.org/W1979651778","https://openalex.org/W1987179081","https://openalex.org/W1994979576","https://openalex.org/W2000358808","https://openalex.org/W2002936592","https://openalex.org/W2004207754","https://openalex.org/W2010595044","https://openalex.org/W2014253650","https://openalex.org/W2016499348","https://openalex.org/W2019003209","https://openalex.org/W2020377850","https://openalex.org/W2028937217","https://openalex.org/W2038473742","https://openalex.org/W2044073767","https://openalex.org/W2044318948","https://openalex.org/W2051408525","https://openalex.org/W2053871565","https://openalex.org/W2067142765","https://openalex.org/W2070650327","https://openalex.org/W2075795085","https://openalex.org/W2077778364","https://openalex.org/W2083957111","https://openalex.org/W2091831926","https://openalex.org/W2105131166","https://openalex.org/W2107903949","https://openalex.org/W2119374840","https://openalex.org/W2122732537","https://openalex.org/W2125422830","https://openalex.org/W2129561104","https://openalex.org/W2133057731","https://openalex.org/W2135718528","https://openalex.org/W2146966931","https://openalex.org/W2154805894","https://openalex.org/W2159480841","https://openalex.org/W2160995259","https://openalex.org/W2168583780","https://openalex.org/W2393314843","https://openalex.org/W2611720143","https://openalex.org/W2743619083","https://openalex.org/W4300196896"],"related_works":["https://openalex.org/W2490337291","https://openalex.org/W2019003209","https://openalex.org/W2966918898","https://openalex.org/W2752019458","https://openalex.org/W2583937085","https://openalex.org/W2991803557","https://openalex.org/W1183706037","https://openalex.org/W2020377850","https://openalex.org/W7000473217","https://openalex.org/W2166857112"],"abstract_inverted_index":null,"counts_by_year":[{"year":2018,"cited_by_count":1}],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2019-04-25T00:00:00"}