{"id":"https://openalex.org/W2159081370","doi":null,"title":"Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.","display_name":"Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2159081370","mag":"2159081370","pmid":"https://pubmed.ncbi.nlm.nih.gov/24940029","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4043607"},"language":"en","primary_location":{"id":"pmid:24940029","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24940029","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":"Molecular vision","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4043607/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110389484","display_name":"Anna M. Siemiatkowska","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Anna M Siemiatkowska","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020419239","display_name":"L. Ingeborgh van den Born","orcid":"https://orcid.org/0000-0002-6375-3339","observed_orcids":["https://orcid.org/0000-0002-6375-3339"]},"institutions":[{"id":"https://openalex.org/I4210120534","display_name":"Rotterdam Eye Hospital","ror":"https://ror.org/02hjc7j46","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210120534"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"L Ingeborgh van den Born","raw_affiliation_strings":["The Rotterdam Eye Hospital, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Rotterdam Eye Hospital, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I4210120534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082322177","display_name":"Maria Michielde van Genderen","orcid":"https://orcid.org/0000-0002-9286-8397","observed_orcids":["https://orcid.org/0000-0002-9286-8397"]},"institutions":[{"id":"https://openalex.org/I4210154461","display_name":"Bartim\u00e9us","ror":"https://ror.org/047b7k736","country_code":"NL","type":"other","lineage":["https://openalex.org/I4210154461"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Maria M van Genderen","raw_affiliation_strings":["Bartim\u00e9us Institute for the Visually Impaired, Zeist, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bartim\u00e9us Institute for the Visually Impaired, Zeist, The Netherlands","institution_ids":["https://openalex.org/I4210154461"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075684889","display_name":"Mette Bertelsen","orcid":"https://orcid.org/0000-0003-4053-4173","observed_orcids":["https://orcid.org/0000-0003-4053-4173"]},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I2802086085","display_name":"Glostrup Hospital","ror":"https://ror.org/05p1frt18","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802086085","https://openalex.org/I2802567020","https://openalex.org/I2802709434","https://openalex.org/I4210145385"]},{"id":"https://openalex.org/I4210094934","display_name":"Kennedy Center","ror":"https://ror.org/00kzzgw26","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802567020","https://openalex.org/I4210094934"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Mette Bertelsen","raw_affiliation_strings":["Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark","institution_ids":["https://openalex.org/I124055696","https://openalex.org/I2802086085","https://openalex.org/I4210094934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073930362","display_name":"Ditta Zobor","orcid":"https://orcid.org/0000-0001-7187-5558","observed_orcids":["https://orcid.org/0000-0001-7187-5558"]},"institutions":[{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ditta Zobor","raw_affiliation_strings":["Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088556446","display_name":"Klaus Rohrschneider","orcid":"https://orcid.org/0000-0003-1996-7935","observed_orcids":["https://orcid.org/0000-0003-1996-7935"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Klaus Rohrschneider","raw_affiliation_strings":["Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030869862","display_name":"Ramon A. C. van Huet","orcid":"https://orcid.org/0000-0003-2786-3511","observed_orcids":["https://orcid.org/0000-0003-2786-3511"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ramon A C van Huet","raw_affiliation_strings":["Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074084037","display_name":"Siska Nurohmah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I11855966","display_name":"Diponegoro University","ror":"https://ror.org/056bjta22","country_code":"ID","type":"education","lineage":["https://openalex.org/I11855966"]},{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["ID","NL"],"is_corresponding":false,"raw_author_name":"Siska Nurohmah","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia","institution_ids":["https://openalex.org/I11855966","https://openalex.org/I145872427","https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026307484","display_name":"B. Jeroen Klevering","orcid":"https://orcid.org/0000-0002-3062-6544","observed_orcids":["https://orcid.org/0000-0002-3062-6544"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"B Jeroen Klevering","raw_affiliation_strings":["Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020341095","display_name":"Susanne Kohl","orcid":"https://orcid.org/0000-0002-6438-6331","observed_orcids":["https://orcid.org/0000-0002-6438-6331"]},"institutions":[{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Susanne Kohl","raw_affiliation_strings":["Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030723263","display_name":"Sultana MH Faradz","orcid":"https://orcid.org/0000-0001-6531-632X","observed_orcids":["https://orcid.org/0000-0001-6531-632X"]},"institutions":[{"id":"https://openalex.org/I11855966","display_name":"Diponegoro University","ror":"https://ror.org/056bjta22","country_code":"ID","type":"education","lineage":["https://openalex.org/I11855966"]}],"countries":["ID"],"is_corresponding":false,"raw_author_name":"Sultana M H Faradz","raw_affiliation_strings":["Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia","institution_ids":["https://openalex.org/I11855966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070275496","display_name":"Thomas Rosenberg","orcid":"https://orcid.org/0000-0003-0095-8991","observed_orcids":["https://orcid.org/0000-0003-0095-8991"]},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I2802086085","display_name":"Glostrup Hospital","ror":"https://ror.org/05p1frt18","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802086085","https://openalex.org/I2802567020","https://openalex.org/I2802709434","https://openalex.org/I4210145385"]},{"id":"https://openalex.org/I4210094934","display_name":"Kennedy Center","ror":"https://ror.org/00kzzgw26","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802567020","https://openalex.org/I4210094934"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Thomas Rosenberg","raw_affiliation_strings":["Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark","institution_ids":["https://openalex.org/I124055696","https://openalex.org/I2802086085","https://openalex.org/I4210094934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049656883","display_name":"Anneke I. den Hollander","orcid":"https://orcid.org/0000-0003-0634-5408","observed_orcids":["https://orcid.org/0000-0003-0634-5408"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4210109357","display_name":"Radboud Institute for Molecular Life Sciences","ror":"https://ror.org/01yb10j39","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4210109357"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Anneke I den Hollander","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4210109357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056877021","display_name":"Rob W.J. Collin","orcid":"https://orcid.org/0000-0003-4347-6503","observed_orcids":["https://orcid.org/0000-0003-4347-6503"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4210109357","display_name":"Radboud Institute for Molecular Life Sciences","ror":"https://ror.org/01yb10j39","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4210109357"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Rob W J Collin","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4210109357"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078101996","display_name":"Frans P.M. Cremers","orcid":"https://orcid.org/0000-0002-4954-5592","observed_orcids":["https://orcid.org/0000-0002-4954-5592"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I4210109357","display_name":"Radboud Institute for Molecular Life Sciences","ror":"https://ror.org/01yb10j39","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4210109357"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Frans P M Cremers","raw_affiliation_strings":["Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949","https://openalex.org/I4210109357"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":11,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.8767,"has_fulltext":true,"cited_by_count":24,"citation_normalized_percentile":{"value":0.89692592,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"20","issue":null,"first_page":"753","last_page":"9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9984999895095825,"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"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10170","display_name":"Retinal Diseases and Treatments","score":9.999999747378752e-05,"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/nmnat1","display_name":"NMNAT1","score":0.9760000109672546},{"id":"https://openalex.org/keywords/leber-congenital-amaurosis","display_name":"Leber congenital amaurosis","score":0.9129999876022339},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9079999923706055},{"id":"https://openalex.org/keywords/macular-atrophy","display_name":"macular atrophy","score":0.9010000228881836},{"id":"https://openalex.org/keywords/cone-rod-dystrophy","display_name":"cone-rod dystrophy","score":0.8949999809265137},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.9959999918937683},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7549999952316284},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8159999847412109},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7450000047683716},{"id":"https://openalex.org/keywords/modifier-alleles","display_name":"modifier alleles","score":0.4569999873638153}],"concepts":[{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.596492350101471},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.593755841255188},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4623798727989197},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.42712530493736267},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38052019476890564},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.362901508808136},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3166011571884155}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":true},{"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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009612","descriptor_name":"Nicotinamide-Nucleotide Adenylyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057130","descriptor_name":"Leber Congenital Amaurosis","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D057130","descriptor_name":"Leber Congenital Amaurosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":6,"locations":[{"id":"pmid:24940029","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24940029","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":"Molecular vision","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4043607","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4043607/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/136408","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2066/136408","pdf_url":"http://hdl.handle.net/2066/136408","source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Vision, 20, 753 - 9","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/24b7010c-a8c4-4746-9afd-094a58f4dfa8","doi":null,"is_oa":false,"landing_page_url":"https://researchprofiles.ku.dk/da/publications/24b7010c-a8c4-4746-9afd-094a58f4dfa8","pdf_url":null,"source":{"id":"https://openalex.org/S4306401983","display_name":"Research at the University of Copenhagen (University of Copenhagen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I124055696","host_organization_name":"University of Copenhagen","host_organization_lineage":["https://openalex.org/I124055696"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Siemiatkowska, A M, van den Born, L I, van Genderen, M M, Bertelsen, M, Zobor, D, Rohrschneider, K, van Huet, R A C, Nurohmah, S, Klevering, B J, Kohl, S, Faradz, S M H, Rosenberg, T, den Hollander, A I, Collin, R W J & Cremers, F P M 2014, 'Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis', Molecular Vision, vol. 20, pp. 753-9.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/136408","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/2066/136408","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"mag:2159081370","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24940029","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4043607","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4043607/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320326325","display_name":"Algemene Nederlandse Vereniging ter voorkoming van Blindheid","ror":"https://ror.org/0210ag428"},{"id":"https://openalex.org/F4320326341","display_name":"Landelijke Stichting voor Blinden en Slechtzienden","ror":"https://ror.org/03apwp296"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2159081370.pdf","grobid_xml":"https://content.openalex.org/works/W2159081370.grobid-xml"},"referenced_works_count":21,"referenced_works":["https://openalex.org/W1505084892","https://openalex.org/W1553665319","https://openalex.org/W1596806582","https://openalex.org/W1966292963","https://openalex.org/W1977170771","https://openalex.org/W1994109571","https://openalex.org/W1998533469","https://openalex.org/W2018672232","https://openalex.org/W2020883669","https://openalex.org/W2037726118","https://openalex.org/W2042293587","https://openalex.org/W2059411377","https://openalex.org/W2068128334","https://openalex.org/W2072989363","https://openalex.org/W2108387405","https://openalex.org/W2118094114","https://openalex.org/W2118145481","https://openalex.org/W2122937110","https://openalex.org/W2153453748","https://openalex.org/W2165565339","https://openalex.org/W2166621376"],"related_works":["https://openalex.org/W2185096857","https://openalex.org/W1977170771","https://openalex.org/W2769101663","https://openalex.org/W2122937110","https://openalex.org/W7141274884","https://openalex.org/W2161469042","https://openalex.org/W4205523710","https://openalex.org/W1966292963","https://openalex.org/W4235982429","https://openalex.org/W2802207025"],"abstract_inverted_index":{"PURPOSE:":[0],"The":[1,28,190,243,309],"gene":[2],"encoding":[3],"nicotinamide":[4],"nucleotide":[5],"adenylyltransferase":[6],"1":[7],"(NMNAT1)":[8],"was":[9,33,137,171,193,212,246,268],"recently":[10],"found":[11,145,195,247,286,296],"to":[12,34,248,261],"be":[13,249],"mutated":[14],"in":[15,46,68,74,90,132,146,152,173,180,196,200,226,234,239,251,255,278,287,297,313,317,332],"a":[16,183,197,227,252,298,314,330],"subset":[17],"of":[18,30,40,49,56,77,83,301,311,336],"patients":[19,58,93,148,302,318],"with":[20,25,59,94,102,111,121,130,149,155,182,203,207,220,241,257,303,319],"Leber":[21],"congenital":[22],"amaurosis":[23],"(LCA)":[24],"macular":[26,274],"atrophy.":[27],"aim":[29],"this":[31,178,325],"study":[32],"determine":[35],"the":[36,81,84,134,162,187,215,266,288],"occurrence":[37],"and":[38,43,119,151,205,280],"frequency":[39],"NMNAT1":[41,69,224,232,283,291],"mutations":[42,284],"associated":[44],"phenotypes":[45],"different":[47],"types":[48],"inherited":[50],"retinal":[51,95],"dystrophies.":[52,96],"METHODS:":[53],"DNA":[54],"samples":[55],"161":[57],"LCA":[60,131,150,204,221,258,279,320],"without":[61],"genetic":[62,334],"diagnosis":[63],"were":[64,88,144,237,285,293],"analyzed":[65],"for":[66],"variants":[67,225,233,292],"using":[70],"Sanger":[71],"sequencing.":[72],"Variants":[73],"exon":[75,235],"5":[76,236],"NMNAT1,":[78],"which":[79],"harbors":[80],"majority":[82],"previously":[85,138],"identified":[86,238],"mutations,":[87],"screened":[89],"532":[91],"additional":[92],"This":[97],"cohort":[98],"encompassed":[99],"108":[100],"persons":[101,129],"isolated":[103,112],"or":[104,113,305],"autosomal":[105,114,122,306],"recessive":[106,115,307],"cone-rod":[107],"dystrophy":[108],"(CRD),":[109],"271":[110],"retinitis":[116],"pigmentosa":[117],"(RP),":[118],"49":[120],"dominant":[123],"RP,":[124],"as":[125,127,329],"well":[126],"104":[128],"whom":[133],"causative":[135],"mutation":[136,185,211],"identified.":[139],"RESULTS:":[140],"Compound":[141],"heterozygous":[142,198,228,253,315],"alterations":[143],"six":[147],"one":[153,160,167,174,206],"person":[154],"early-onset":[156],"RP.":[157,308],"All":[158],"except":[159],"carried":[161,177,222],"common":[163],"p.E257K":[164,191,244,312],"variant":[165,179,245],"on":[166,186,214],"allele.":[168,189,217],"Macular":[169],"atrophy":[170,275],"absent":[172],"patient,":[175],"who":[176],"combination":[181],"truncating":[184],"other":[188,216,223,333],"alteration":[192],"also":[194,294],"state":[199,254,316],"five":[201],"individuals":[202,219,240,256],"RP":[208],"while":[209],"no":[210,231,282],"detected":[213],"Two":[218],"state,":[229],"whereas":[230],"CRD.":[242],"enriched":[250],"(0.94%)":[259],"compared":[260],"Caucasian":[262],"controls":[263,322],"(0.18%),":[264],"although":[265],"difference":[267],"statistically":[269],"insignificant":[270],"(p=0.12).":[271],"CONCLUSIONS:":[272],"Although":[273],"can":[276],"occur":[277],"CRD,":[281],"latter":[289],"cohort.":[290],"not":[295],"large":[299],"group":[300],"sporadic":[304],"enrichment":[310],"versus":[321],"suggests":[323],"that":[324],"allele":[326],"could":[327],"act":[328],"modifier":[331],"subtypes":[335],"LCA.":[337]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":4},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":4}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}