{"id":"https://openalex.org/W1964594915","doi":"https://doi.org/10.1093/brain/awv087","title":"Evaluation of exome sequencing variation in undiagnosed ataxias: Table 1","display_name":"Evaluation of exome sequencing variation in undiagnosed ataxias: Table 1","publication_year":2015,"publication_date":"2015-04-04","ids":{"openalex":"https://openalex.org/W1964594915","doi":"https://doi.org/10.1093/brain/awv087","mag":"1964594915","pmid":"https://pubmed.ncbi.nlm.nih.gov/25842391","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4671475"},"language":"en","primary_location":{"id":"doi:10.1093/brain/awv087","doi":"https://doi.org/10.1093/brain/awv087","is_oa":false,"landing_page_url":"https://doi.org/10.1093/brain/awv087","pdf_url":null,"source":{"id":"https://openalex.org/S118357697","display_name":"Brain","issn_l":"0006-8950","issn":["0006-8950","1460-2156"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"journal-article"},"volume":null,"type":"letter","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4671475","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021489219","display_name":"Erin Sandford","orcid":"https://orcid.org/0000-0003-3498-8144","observed_orcids":["https://orcid.org/0000-0003-3498-8144"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin Sandford","raw_affiliation_strings":["1 Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA","Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075444455","display_name":"Jun Z. Li","orcid":"https://orcid.org/0000-0001-6727-0812","observed_orcids":["https://orcid.org/0000-0001-6727-0812"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jun Z. Li","raw_affiliation_strings":["2 Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA 3 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA","Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA","Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2 Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA 3 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009990416","display_name":"Margit Burmeister","orcid":"https://orcid.org/0000-0002-1914-2434","observed_orcids":["https://orcid.org/0000-0002-1914-2434"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margit Burmeister","raw_affiliation_strings":["1 Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA 2 Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA 3 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA 4 Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA margit@umich.edu","Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA","Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA","Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA","Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA 2 Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA 3 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA 4 Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA margit@umich.edu","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA","institution_ids":["https://openalex.org/I27837315"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I27837315"],"apc_list":{"value":4224,"currency":"GBP","value_usd":5570},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"138","issue":"10","first_page":"e383","last_page":"e383"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9980000257492065,"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":0.9980000257492065,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0012000000569969416,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/ataxia","display_name":"ataxia","score":0.8759999871253967},{"id":"https://openalex.org/keywords/undiagnosed-genetic-disorders","display_name":"undiagnosed genetic disorders","score":0.6940000057220459},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.7850000262260437},{"id":"https://openalex.org/keywords/pathogenic-variant-classification","display_name":"pathogenic variant classification","score":0.828000009059906},{"id":"https://openalex.org/keywords/false-positive-variants","display_name":"false positive variants","score":0.699999988079071},{"id":"https://openalex.org/keywords/minor-allele-frequency","display_name":"minor allele frequency","score":0.8460000157356262},{"id":"https://openalex.org/keywords/variant-pathogenicity-prediction","display_name":"variant pathogenicity prediction","score":0.7670000195503235},{"id":"https://openalex.org/keywords/acmg-guidelines","display_name":"ACMG guidelines","score":0.4779999852180481},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.5059999823570251},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6959999799728394},{"id":"https://openalex.org/keywords/variant-database","display_name":"variant database","score":0.35600000619888306}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6837297081947327},{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.5082520842552185},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5070843696594238},{"id":"https://openalex.org/C2778334786","wikidata":"https://www.wikidata.org/wiki/Q1586270","display_name":"Variation (astronomy)","level":2,"score":0.49702218174934387},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.4750487804412842},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3557729423046112},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3183330297470093},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28035980463027954},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2676258683204651},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.25066137313842773},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.23692652583122253},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.1067579984664917},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07401391863822937},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C44870925","wikidata":"https://www.wikidata.org/wiki/Q37547","display_name":"Astrophysics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D013132","descriptor_name":"Spinocerebellar Degenerations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/brain/awv087","doi":"https://doi.org/10.1093/brain/awv087","is_oa":false,"landing_page_url":"https://doi.org/10.1093/brain/awv087","pdf_url":null,"source":{"id":"https://openalex.org/S118357697","display_name":"Brain","issn_l":"0006-8950","issn":["0006-8950","1460-2156"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4671475","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4671475","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"Text"},{"id":"pmid:25842391","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25842391","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":"Brain : a journal of neurology","raw_type":"Letter"},{"id":"pmh:oai:open-archive.highwire.org:brain:138/10/e383","doi":null,"is_oa":false,"landing_page_url":"http://brain.oxfordjournals.org/cgi/content/short/138/10/e383","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4671475","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4671475","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2823834920","display_name":"Ataxia gene identification by integrated genomic analysis","funder_award_id":"R01NS078560","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W2001456860","https://openalex.org/W2002574013","https://openalex.org/W2011972906","https://openalex.org/W2015762546","https://openalex.org/W2042144338","https://openalex.org/W2045791858","https://openalex.org/W2079092178","https://openalex.org/W2088645009","https://openalex.org/W2100175648","https://openalex.org/W2129679875","https://openalex.org/W2169567789"],"related_works":["https://openalex.org/W1974753147","https://openalex.org/W7096084016","https://openalex.org/W2808041165","https://openalex.org/W2042144338","https://openalex.org/W3149950160","https://openalex.org/W3215216585","https://openalex.org/W2987989159","https://openalex.org/W4387296353","https://openalex.org/W4389447390","https://openalex.org/W3181141264"],"abstract_inverted_index":{"Sir,":[0],"It":[1,2166],"is":[2,76,213,229,705,990,1304,1589,1697,1736,2022,2063,2091,2167,2176,2246],"with":[3,56,280,401,429,435,470,550,572,597,627,651,707,735,744,835,857,882,912,936,992,1020,1029,1069,1149,1171,1196,1226,1250,1306,1334,1343,1434,1456,1481,1511,1535,1591,1619,1628,1707,1756,1848,1863,1904,1927,1953,2131,2139,2148],"great":[4],"interest":[5,2188],"that":[6,148,162,169,450,1801,1841,1993,2049,2082],"we":[7,30,145,283,423,451],"read":[8],"the":[9,17,34,54,69,82,109,227,292,302,327,375,442,455,499,784,1098,1383,1659,1704,1802,1833,1917,1984,1989,2089,2096,2107,2122,2129,2137,2145,2153,2192,2202,2243,2249],"work":[10,47],"of":[11,19,33,37,135,138,253,287,291,294,335,340,457,1678,1690,1744,1797,1807,1938,1946,1974,1986,2084,2155,2164,2185,2187,2252],"Pyle":[12,65,110,155,196,317,389,446,464,1063,1683,1827,1958],"et":[13,66,95,111,121,156,197,275,318,369,390,418,447,465,576,600,748,752,861,885,1033,1037,1064,1175,1199,1347,1351,1460,1484,1632,1636,1684,1769,1776,1782,1828,1853,1867,1914,1923,1959,2029,2115],"al.":[14,67,112,122,157,198,319,391,448,466,1065,1685,1829,1854,1915,1960],"(2014)":[15,113,199,320,449,467,1066,1686,1830,1961],"on":[16,167,460,1059],"utility":[18],"exome":[20,2112],"sequencing":[21,126,1796],"in":[22,26,45,108,217,235,240,245,259,301,326,468,502,673,787,958,1067,1101,1272,1386,1557,1662,1701,1836,1846,1871,1895,1899,1980,1983,2020,2024,2046,2066,2088,2160,2206,2242],"achieving":[23],"molecular":[24,160,1688,2158,2212],"diagnosis":[25,2159],"ataxia.":[27,738,1023,1337,1622,1957,2165],"In":[28,142,278,421],"particular,":[29],"take":[31],"notice":[32],"higher":[35,80],"rate":[36,75,87,134,2099],"\u2018confirmed":[38,430,2097],"pathogenic\u2019":[39,42,431,437,2098],"and":[40,52,115,129,174,190,247,358,432,454,524,545,567,676,700,809,830,852,961,985,1123,1144,1166,1275,1299,1408,1429,1451,1560,1584,1715,1720,1734,1765,1779,1810,1882,1907,1911,1936,1940,1943,1966,1972,2042,2144,2172],"\u2018possible":[41],"variants":[43,137,151,314,383,443,461,1060,1666,1692,1834,1948,2045,2127,2186],"identified":[44],"this":[46,143,503,788,1102,1387],"as":[48,181,192,195,202,223,263,411,741,1026,1340,1625,1681,1761,1838,1891,2231,2233],"compared":[49],"to":[50,127,207,264,270,309,351,364,374,385,1658,1832,1997,2012,2054,2101,2106,2191,2195,2238],"others":[51],"question":[53],"stringency":[55],"which":[57],"these":[58,281,1665,1691,1815,1857,1947,2094],"classifications":[59],"are":[60,175,200,557,842,1156,1441,1680,1732,1741,1804,1818,1860,1901,2189],"applied.":[61],"As":[62],"stated":[63,332],"by":[64,101,154,316,388,445,463,522,543,565,698,807,828,850,983,1062,1121,1142,1164,1297,1406,1427,1449,1582,1693,1879,2110,2248],"(2014),":[68,123,158],"41%":[70],"(9/22":[71],"families)":[72],"confirmed":[73,224,623,908,1222,1507],"pathogenic":[74,136,182,225],"more":[77,495,780,1094,1379,1668,2221],"than":[78,81,231,498,783,1097,1382],"2-fold":[79],"18%":[83],"(9/50":[84],"individuals)":[85],"detection":[86],"reported":[88,315,396,406,444,462,501,540,556,672,740,786,825,841,957,1025,1061,1100,1139,1155,1271,1339,1385,1424,1440,1556,1624,1835,2023,2060,2134,2141],"using":[89,103],"large":[90],"targeted":[91],"gene":[92,106,410],"panels":[93],"(N\u00e9meth":[94],"al.,":[96,276,370,419,577,601,749,753,862,886,1034,1038,1176,1200,1348,1352,1461,1485,1633,1637,1770,1777,1783,1868,1924,2030,2116],"2013).":[97],"This":[98],"was":[99],"explained":[100],"not":[102,171,216,531,539,612,621,638,816,824,897,906,923,1130,1138,1211,1220,1237,1415,1423,1496,1505,1522,1805,1812,1861,1995,2010,2064,2219],"a":[104,131,179,203,210,221,322,331,341,409,414,1675,1698,1793,1969,2025,2132,2157,2181,2228],"limited":[105],"panel":[107],"study,":[114],"possibly":[116],"deeper":[117],"coverage.":[118],"However,":[119,1856,2209],"Fogel":[120],"applied":[124],"whole-exome":[125],"ataxia":[128,387,471,1070,1892],"found":[130,1967,2109,2201],"similarly":[132],"low":[133,307],"21%":[139,2108],"(16/76":[140],"individuals).":[141],"letter":[144],"point":[146],"out":[147],"while":[149],"promising":[150],"were":[152,163,165,170],"presented":[153,376,1661],"many":[159,1896],"diagnoses":[161],"claimed":[164,384],"based":[166],"data":[168,2113],"entirely":[172],"convincing,":[173],"likely":[176,2053],"false-positive.":[177],"Claiming":[178,220],"variant":[180,212,222,272,293,311,342,1809,2019,2205,2230],"has":[183,1949],"immediate":[184],"implications":[185],"for":[186,348,381,413,426,1674,1712,1717,1726,2069,2170,2180],"future":[187,218],"clinical":[188,211,2240],"testing":[189,249],"counselling,":[191],"publications":[193],"such":[194,1760,1890,2081,2234],"used":[201,1962],"peer-reviewed":[204],"public":[205,310],"record":[206],"evaluate":[208],"if":[209,1738,2197],"disease-causing":[214],"or":[215,251,296,1752,1823,1956,2214],"cases.":[219,1897],"when":[226,2174,2210],"evidence":[228,266,2213],"less":[230],"convincing":[232],"may":[233,2236],"result":[234],"inaccurate":[236,243],"diagnosis,":[237],"inappropriate":[238],"changes":[239],"medical":[241,1748],"treatment,":[242],"counselling":[244],"pre-natal":[246],"presymptomatic":[248],"environments,":[250],"abortion":[252],"healthy":[254],"foetuses.":[255],"A":[256,2015],"recent":[257],"perspective":[258],"Nature":[260],"provides":[261],"recommendations":[262],"what":[265],"would":[267],"be":[268,306,352,362,405,1789,1998,2013,2224],"needed":[269],"claim":[271],"causality":[273],"(MacArthur":[274,368,417],"2014).":[277,371,420,2031,2117],"agreement":[279],"recommendations,":[282],"raise":[284,424],"three":[285,427,1728],"types":[286],"concerns:":[288],"Allele":[289],"frequency":[290,299],"interest,":[295],"minor":[297],"allele":[298],"(MAF),":[300],"general":[303],"population":[304],"should":[305,361,404,1788,2223],"according":[308],"databases.":[312],"Several":[313],"have":[321,1753,1842,1930,2200],"MAF":[323,333,482,486,490,509,513,517,530,534,538,583,587,591,607,611,615,659,663,667,685,689,693,721,725,729,767,771,775,794,798,802,815,819,823,868,872,876,892,896,900,944,948,952,970,974,978,1006,1010,1014,1081,1085,1089,1108,1112,1116,1129,1133,1137,1182,1186,1190,1206,1210,1214,1258,1262,1266,1284,1288,1292,1320,1324,1328,1366,1370,1374,1393,1397,1401,1414,1418,1422,1467,1471,1475,1491,1495,1499,1543,1547,1551,1569,1573,1577,1605,1609,1613],">":[324],"0.01":[325,492,777,1091,1376],"databases":[328],"provided":[329],"despite":[330],"cut-off":[334],"0.01.":[336],"Predicted":[337],"damaging":[338,2204],"potential":[339],"(pathogenicity),":[343],"even":[344],"within":[345],"established":[346],"genes":[347],"ataxia,":[349,554,839,1153,1438],"needs":[350],"carefully":[353],"assessed.":[354],"Multiple":[355,398],"independent":[356],"predictive":[357],"experimental":[359],"approaches":[360],"utilized":[363,2065],"corroborate":[365],"predicted":[366,1970],"pathogenicity":[367],"Prior":[372],"association":[373,1933],"phenotype":[377,416,497,782,1096,1381],"(phenotype).":[378],"Clinical":[379],"presentations":[380],"several":[382],"cause":[386,1751,1874,2055],"differ":[392],"significantly":[393],"from":[394],"those":[395],"previously.":[397],"unrelated":[399],"cases":[400,500,555,785,840,1099,1154,1384,1439,1679,2163],"similar":[402,2105,2207],"presentation":[403],"before":[407,1791,2226],"assigning":[408],"causative":[412],"particular":[415,2229],"all,":[422],"questions":[425],"families":[428,434,2103,2120,2147],"four":[433],"\u2018possibly":[436],"classification.":[438],"Table":[439,1663],"1":[440,1906,1982],"summarizes":[441],"find":[452],"questionable,":[453],"type":[456,1905,1908],"concerns.":[458],"Concerns":[459,1058],"patients":[469,1068,1740,1847,2090,2171],"P5":[472,757,1071,1356],"P6":[473,758,1072,1357],"p.Ser527*":[474,759,1073,1358],"C.Het/R":[475,477,479,506,562,580,604,632,656,680,760,762,764,791,847,865,889,917,941,965,1074,1076,1078,1105,1161,1179,1203,1231,1255,1279,1359,1361,1363,1390,1446,1464,1488,1516,1540,1564],"p.Leu226Ile":[476,761,1075,1360],"p.Met156Thr":[478,763,1077,1362],"MAF:":[480,507,528,581,605,657,683,719,765,792,813,866,890,942,968,1004,1079,1106,1127,1180,1204,1256,1282,1318,1364,1391,1412,1465,1489,1541,1567,1603],"In-house":[481,508,529,582,606,658,684,720,766,793,814,867,891,943,969,1005,1080,1107,1128,1181,1205,1257,1283,1319,1365,1392,1413,1466,1490,1542,1568,1604],"=":[483,487,491,510,514,518,535,584,588,592,608,616,660,664,668,686,690,694,722,726,730,768,772,776,795,799,803,820,869,873,877,893,901,945,949,953,971,975,979,1007,1011,1015,1043,1047,1050,1053,1056,1082,1086,1090,1109,1113,1117,1134,1183,1187,1191,1207,1215,1259,1263,1267,1285,1289,1293,1321,1325,1329,1367,1371,1375,1394,1398,1402,1419,1468,1472,1476,1492,1500,1544,1548,1552,1570,1574,1578,1606,1610,1614,1642,1646,1649,1652,1655],"0.0157,":[484,769,1083,1368],"ESP6500":[485,512,533,586,610,662,688,724,770,797,818,871,895,947,973,1009,1084,1111,1132,1185,1209,1261,1287,1323,1369,1396,1417,1470,1494,1546,1572,1608],"0.0115,":[488,773,1087,1372],"1000g":[489,516,537,590,614,666,692,728,774,801,822,875,899,951,977,1013,1088,1115,1136,1189,1213,1265,1291,1327,1373,1400,1421,1474,1498,1550,1576,1612],"Phenotype:NPC1":[493,778,1092,1377],"typically":[494,779,1093,1378],"severe":[496,781,1095,1380],"paper":[504,789,1103,1388],"p.Pro237Ser":[505,790,1104,1389],"0.0052,":[511,796,1110,1395],"0.0153,":[515,800,1114,1399],"0.0064":[519,804,1118,1403],"Pathogenicity:":[520,541,563,618,635,696,805,826,848,903,920,981,1119,1140,1162,1217,1234,1295,1404,1425,1447,1502,1519,1580],"Tolerated/benign":[521,564,697,806,849,982,1120,1163,1296,1405,1448,1581],"SIFT":[523,544,566,699,808,829,851,984,1122,1143,1165,1298,1407,1428,1450,1583],"PolyPhen-2":[525,568,701,810,853,986,1124,1167,1300,1409,1452,1585],"p.Arg454Gln":[526,811,1125,1410],"Het/D":[527,634,716,718,756,812,919,1001,1003,1041,1126,1233,1315,1317,1355,1411,1518,1600,1602,1640],"reported,":[532,613,817,898,1131,1212,1416,1497],"0.0003,":[536,821,1135,1420],"Tolerated/neutral":[542,827,1141,1426],"LRT":[546,831,1145,1430],"Phenotype:":[547,569,594,624,648,670,702,732,832,854,879,909,933,955,987,1017,1146,1168,1193,1223,1247,1269,1301,1331,1431,1453,1478,1508,1532,1554,1586,1616],"Gene":[548,625,649,671,833,910,934,956,1147,1224,1248,1270,1432,1509,1533,1555,1919],"associated":[549,571,596,626,650,734,834,856,881,911,935,1019,1148,1170,1195,1225,1249,1333,1433,1455,1480,1510,1534,1618,1755,1862,1903,1952],"childhood":[551,836,1150,1435,2124],"onset":[552,559,837,844,1151,1158,1436,1443,1884,2125],"episodic":[553,838,1152,1437],"adult":[558,843,1157,1442],"progressive":[560,845,1159,1444],"p.Lys193Gln":[561,846,1160,1445],"Variant":[570,595,739,855,880,1024,1169,1194,1338,1454,1479,1623],"hearing":[573,858,1172,1457],"loss":[574,859,1173,1458,1973],"(Cryns":[575,599,860,884,1174,1198,1459,1483,1866],"2003)":[578,602,863,887,1177,1201,1462,1486],"p.Arg456His":[579,864,1178,1463],"0.0402,":[585,870,1184,1469],"0.0467,":[589,874,1188,1473],"0.0600":[593,878,1192,1477],"diabetes":[598,883,1197,1482,1881,1910,1939],"c.-66A>G":[603,888,1202,1487,1978],"0.0122,":[609,894,1208,1493],"0.0046":[617,902,1216,1501],"Splice":[619,636,904,921,1218,1235,1503,1520],"site":[620,637,647,905,922,932,1219,1236,1246,1504,1521,1531,1992,2003,2018,2062,2074],"molecularly":[622,639,907,924,1221,1238,1506,1523],"infantile":[628,913,1227,1512],"mitochondrial":[629,914,1228,1513],"encephalopathy":[630,915,1229,1514],"p.Lys50Arg":[631,916,1230,1515],"c.805-2A>G":[633,918,1232,1517],"confirmed,":[640,925,1239,1524],"other":[641,926,1240,1525,1928,2111,2198,2215],"transcripts":[642,927,1241,1526,2068],"use":[643,928,1242,1527],"alternate":[644,929,1243,1528],"downstream":[645,930,1244,1529],"splice":[646,931,1245,1530,1990,2001,2017,2061,2073],"hereditary":[652,674,937,959,1251,1273,1536,1558],"spastic":[653,938,1252,1537],"paraplegia":[654,939,1253,1538],"p.Thr665Ile":[655,940,1254,1539],"0.0717,":[661,946,1260,1545],"0.0554,":[665,950,1264,1549],"0.0700":[669,954,1268,1553],"sensory":[675,960,1274,1559],"autonomic":[677,962,1276,1561],"neuropathy":[678,963,1277,1562],"p.Thr1091Ile":[679,964,1278,1563],"p.Arg273Gln":[681,966,1280,1565],"Hem/D":[682,967,1281,1566],"0.0105,":[687,972,1286,1571],"0.0027,":[691,976,1290,1575],"0.0018":[695,980,1294,1579],"X-linked,":[703,988,1302,1587],"patient":[704,989,1303,1588],"male":[706,991,1305,1590],"two":[708,993,1307,1592,1705,1713,1816,1858,2123,2146],"affected":[709,994,1308,1593,2216],"children":[710,995,1309,1594],"suggesting":[711,996,1310,1595,2048],"autosomal":[712,997,1311,1596],"dominant":[713,998,1312,1597,2026],"inheritance":[714,999,1313,1598],"p.Trp748Ser":[715,745,1000,1030,1314,1344,1599,1629],"p.Glu1143Gly":[717,1002,1316,1601],"0.0262,":[723,1008,1322,1607],"0.0275,":[727,1012,1326,1611],"0.0200":[731,1016,1330,1615],"POLG":[733,1018,1332,1617],"recessive":[736,1021,1335,1620],"inherited":[737,1022,1336,1621],"common":[742,1027,1341,1626],"haplotype":[743,1028,1342,1627],"(Van":[746,1031,1345,1630],"Goethem":[747,1032,1346,1631],"2004;":[750,1035,1349,1634],"Hakonen":[751,1036,1350,1635],"2005)":[754,1039,1353,1638],"p.Leu432Val":[755,1040,1354,1639],"C.Het":[1042,1641],"compound":[1044,1643,1819],"heterozygous;":[1045,1054,1644,1653],"D":[1046,1645],"dominant;":[1048,1647],"Hem":[1049,1648],"hemizygous;":[1051,1650],"Het":[1052,1651],"R":[1055,1654],"recessive.":[1057,1656],"Due":[1657],"concerns":[1660,1673],"1,":[1664],"warrant":[1667],"cautious":[1669],"interpretation.":[1670],"Additional":[1671,1795],"detailed":[1672],"select":[1676],"subset":[1677],"follows:":[1682],"report":[1687],"confirmation":[1689],"oxysterol":[1694,1758],"analysis.":[1695],"There":[1696],"striking":[1699],"difference":[1700],"values":[1702],"between":[1703,1934,1941],"siblings,":[1706],"Patient":[1708,1721],"P15":[1709],"borderline":[1710],"normal":[1711,1716,1745],"measurements":[1714],"one":[1718],"measurement;":[1719],"P16":[1722],"showing":[1723],"elevated":[1724,1757],"results":[1725],"all":[1727,2067],"measurements.":[1729],"No":[1730],"P-values":[1731],"given":[1733],"it":[1735],"unclear":[1737],"both":[1739,1968],"statistically":[1742],"outside":[1743],"ranges.":[1746],"Other":[1747],"conditions":[1749],"can":[1750,1873,1893],"been":[1754,1843,1950],"results,":[1759],"neuronal":[1762],"ceroid":[1763],"lipofuscinosis":[1764],"Gaucher":[1766],"disease":[1767,2056],"(Porter":[1768],"2010),":[1771],"hepatitis":[1772],"C":[1773],"infection":[1774],"(Arciello":[1775],"2012)":[1778],"hyperlipidaemia":[1780],"(Arca":[1781],"2007).":[1784],"These":[1785,2118],"alternative":[1786],"explanations":[1787],"excluded":[1790],"making":[1792],"diagnosis.":[1794],"unaffected":[1798],"siblings":[1799,1803],"revealed":[1800],"carriers":[1806],"either":[1808],"did":[1811],"confirm":[1813],"whether":[1814],"mutations":[1817,1821,1840,1859],"heterozygous":[1820,2016],"(trans)":[1822],"double":[1824],"mutants":[1825],"(cis).":[1826],"refers":[1831],"WFS1":[1837,1872,1900],"known":[1839],"previously":[1844,1951,2133,2140],"described":[1845],"Wolfram":[1849,1864,1875],"syndrome,":[1850,1876],"citing":[1851],"Cryns":[1852,1913],"(2003).":[1855],"syndrome":[1865],"2003).":[1869],"Mutations":[1870,1898],"primarily":[1877],"characterized":[1878],"juvenile":[1880],"early":[1883],"optic":[1885],"atrophy,":[1886],"but":[1887],"neurodegenerative":[1888,1954],"features":[1889],"develop":[1894],"also":[1902,2008],"2":[1909,2007],"deafness.":[1912,1944],"(2003),":[1916],"Human":[1918],"Mutation":[1920],"Database":[1921],"(Stenson":[1922],"2014),":[1925],"along":[1926],"researchers,":[1929],"noted":[1931],"an":[1932,1975,2071],"Arg456His":[1935],"development":[1937],"Lys193Gln":[1942],"Neither":[1945],"symptoms":[1955],"splicing":[1963,2087],"prediction":[1964],"programs":[1965],"gain":[1971,2044],"acceptor":[1976,2002],"site.":[1977],"sits":[1979],"exon":[1981],"5\u2019UTR":[1985],"FASTKD2":[1987],"near":[1988],"donor":[1991],"does":[1994,2009],"appear":[1996,2011],"impacted.":[1999,2014],"The":[2000,2032,2059],"at":[2004],"intron":[2005],"1/exon":[2006],"ZFYVE27":[2021],"family":[2027,2130,2138],"(Pyle":[2028],"Exome":[2033],"Aggregation":[2034],"Consortium":[2035],"(ExAC)":[2036],"reports":[2037],"11":[2038],"different":[2039],"splice,":[2040],"frameshift":[2041],"stop":[2043],"ZFYVE27,":[2047,2070],"haploinsufficiency":[2050],"alone":[2051],"isn\u2019t":[2052],"(ExAC,":[2057],"2015).":[2058],"additional":[2072,2211],"exists":[2075],"five":[2076],"amino":[2077],"acids":[2078],"further":[2079],"downstream,":[2080],"impact":[2083],"possible":[2085],"differential":[2086],"unclear.":[2092],"With":[2093],"considerations":[2095],"drops":[2100],"6/22":[2102],"(27.2%),":[2104],"(Fogel":[2114],"six":[2119],"include":[2121],"SACS":[2126],"families,":[2128],"KCNC3":[2135],"variant,":[2136],"SPG7":[2142],"variants,":[2143],"TUBB4A":[2149],"variants.":[2150],"We":[2151],"understand":[2152],"importance":[2154],"discovering":[2156],"currently":[2161],"undiagnosed":[2162],"incredibly":[2168],"frustrating":[2169],"physicians":[2173],"there":[2175],"no":[2177],"definitive":[2178],"explanation":[2179],"patient\u2019s":[2182],"symptoms.":[2183],"Reports":[2184],"helpful":[2190],"scientific":[2193],"community":[2194],"explore":[2196],"researchers":[2199],"same":[2203],"phenotypes.":[2208],"individuals":[2217],"do":[2218],"exist,":[2220],"caution":[2222],"exercised":[2225],"claiming":[2227],"causative,":[2232],"claims":[2235],"lead":[2237],"false":[2239],"tests":[2241],"future.":[2244],"Research":[2245],"funded":[2247],"National":[2250],"Institutes":[2251],"Health":[2253],"(NIH)":[2254],"grant":[2255],"R01-NS078560.":[2256]},"counts_by_year":[{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
