{"id":"https://openalex.org/W93487853","doi":"https://doi.org/10.1016/s0065-2660(01)45008-5","title":"7 Molecular genetic testing for neuronal ceroid lipofuscinoses","display_name":"7 Molecular genetic testing for neuronal ceroid lipofuscinoses","publication_year":2001,"publication_date":"2001-01-01","ids":{"openalex":"https://openalex.org/W93487853","doi":"https://doi.org/10.1016/s0065-2660(01)45008-5","mag":"93487853","pmid":"https://pubmed.ncbi.nlm.nih.gov/11332770"},"language":"en","primary_location":{"id":"doi:10.1016/s0065-2660(01)45008-5","doi":"https://doi.org/10.1016/s0065-2660(01)45008-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0065-2660(01)45008-5","pdf_url":null,"source":{"id":"https://openalex.org/S2483520458","display_name":"Advances in genetics","issn_l":"0065-2660","issn":["0065-2660"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in Genetics","raw_type":"book-chapter"},"volume":null,"type":"book-chapter","indexed_in":["crossref","pubmed"],"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/A5029200701","display_name":"Nanbert A. Zhong","orcid":"https://orcid.org/0000-0002-3242-5308","observed_orcids":["https://orcid.org/0000-0002-3242-5308"]},"institutions":[{"id":"https://openalex.org/I1327163397","display_name":"State University of New York","ror":"https://ror.org/01q1z8k08","country_code":"US","type":"education","lineage":["https://openalex.org/I1327163397"]},{"id":"https://openalex.org/I181697535","display_name":"SUNY Downstate Health Sciences University","ror":"https://ror.org/0041qmd21","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I181697535"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Nanbert Zhong","raw_affiliation_strings":["Molecular Neurogenetic Diagnostic Laboratory, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA. omrddzhong@aol.com","Department of Neurology SUNY Health Science Center at Brooklyn Brooklyn, New York 11203 USA","Molecular Neurogenetic Diagnostic Laboratory New York State Institute for Basic Research in Developmental Disabilities Staten Island, New York 10314 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Neurogenetic Diagnostic Laboratory, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA. omrddzhong@aol.com","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology SUNY Health Science Center at Brooklyn Brooklyn, New York 11203 USA","institution_ids":["https://openalex.org/I1327163397","https://openalex.org/I181697535"]},{"raw_affiliation_string":"Molecular Neurogenetic Diagnostic Laboratory New York State Institute for Basic Research in Developmental Disabilities Staten Island, New York 10314 USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5029200701"],"corresponding_institution_ids":["https://openalex.org/I1327163397","https://openalex.org/I181697535"],"apc_list":null,"apc_paid":null,"fwci":5.8377,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.95539697,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"45","issue":null,"first_page":"141","last_page":"158"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0019000000320374966,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/neuronal-ceroid-lipofuscinoses","display_name":"neuronal ceroid lipofuscinosis","score":0.9769999980926514},{"id":"https://openalex.org/keywords/cln1","display_name":"CLN1","score":0.7239999771118164},{"id":"https://openalex.org/keywords/cln2","display_name":"CLN2","score":0.9940000176429749},{"id":"https://openalex.org/keywords/cln3","display_name":"CLN3","score":0.9990000128746033},{"id":"https://openalex.org/keywords/cln5","display_name":"CLN5","score":0.9869999885559082},{"id":"https://openalex.org/keywords/cln8","display_name":"CLN8","score":0.9869999885559082},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.5860000252723694},{"id":"https://openalex.org/keywords/molecular-genetic-testing","display_name":"molecular genetic testing","score":0.753000020980835},{"id":"https://openalex.org/keywords/carrier-screening","display_name":"carrier screening","score":0.8550000190734863},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.859000027179718},{"id":"https://openalex.org/keywords/presymptomatic-diagnosis","display_name":"presymptomatic diagnosis","score":0.8209999799728394},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.6320000290870667}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8412080407142639},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6543302536010742},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6042793989181519},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47195759415626526},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.465995192527771},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46435546875},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.41639474034309387},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.052142947912216187},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009472","descriptor_name":"Neuronal Ceroid-Lipofuscinoses","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009472","descriptor_name":"Neuronal Ceroid-Lipofuscinoses","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018832","descriptor_name":"Molecular Chaperones","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0065-2660(01)45008-5","doi":"https://doi.org/10.1016/s0065-2660(01)45008-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0065-2660(01)45008-5","pdf_url":null,"source":{"id":"https://openalex.org/S2483520458","display_name":"Advances in genetics","issn_l":"0065-2660","issn":["0065-2660"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in Genetics","raw_type":"book-chapter"},{"id":"pmid:11332770","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11332770","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":44,"referenced_works":["https://openalex.org/W139811396","https://openalex.org/W1555972529","https://openalex.org/W1884093662","https://openalex.org/W1970047246","https://openalex.org/W1971664394","https://openalex.org/W1980278159","https://openalex.org/W1999500662","https://openalex.org/W2002458605","https://openalex.org/W2004000104","https://openalex.org/W2011950472","https://openalex.org/W2012482436","https://openalex.org/W2018027034","https://openalex.org/W2020278806","https://openalex.org/W2020543149","https://openalex.org/W2020746387","https://openalex.org/W2020996052","https://openalex.org/W2024907776","https://openalex.org/W2029902380","https://openalex.org/W2031128262","https://openalex.org/W2031789185","https://openalex.org/W2035071818","https://openalex.org/W2045986631","https://openalex.org/W2052378665","https://openalex.org/W2057762366","https://openalex.org/W2061229233","https://openalex.org/W2065926476","https://openalex.org/W2074635839","https://openalex.org/W2076265503","https://openalex.org/W2077654997","https://openalex.org/W2081948380","https://openalex.org/W2088234686","https://openalex.org/W2093250908","https://openalex.org/W2093978551","https://openalex.org/W2100143246","https://openalex.org/W2108635119","https://openalex.org/W2127806935","https://openalex.org/W2128886688","https://openalex.org/W2133193846","https://openalex.org/W2140786471","https://openalex.org/W2153764927","https://openalex.org/W2162066262","https://openalex.org/W2164373312","https://openalex.org/W2412664927","https://openalex.org/W2438985900"],"related_works":["https://openalex.org/W1980278159","https://openalex.org/W2415908693","https://openalex.org/W2528324706","https://openalex.org/W2078557934","https://openalex.org/W1941704016","https://openalex.org/W2082306524","https://openalex.org/W2155207890","https://openalex.org/W2069928631","https://openalex.org/W2056896233","https://openalex.org/W2745668853"],"abstract_inverted_index":null,"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}