{"id":"https://openalex.org/W2053405014","doi":"https://doi.org/10.1097/pdm.0b013e3181eb92ff","title":"Comparison of PHOX2B Testing Methods in the Diagnosis of Congenital Central Hypoventilation Syndrome and Mosaic Carriers","display_name":"Comparison of PHOX2B Testing Methods in the Diagnosis of Congenital Central Hypoventilation Syndrome and Mosaic Carriers","publication_year":2010,"publication_date":"2010-11-04","ids":{"openalex":"https://openalex.org/W2053405014","doi":"https://doi.org/10.1097/pdm.0b013e3181eb92ff","mag":"2053405014","pmid":"https://pubmed.ncbi.nlm.nih.gov/21051998"},"language":"en","primary_location":{"id":"doi:10.1097/pdm.0b013e3181eb92ff","doi":"https://doi.org/10.1097/pdm.0b013e3181eb92ff","is_oa":false,"landing_page_url":"https://doi.org/10.1097/pdm.0b013e3181eb92ff","pdf_url":null,"source":{"id":"https://openalex.org/S99097673","display_name":"Diagnostic Molecular Pathology","issn_l":"1052-9551","issn":["1052-9551"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Diagnostic Molecular Pathology","raw_type":"journal-article"},"volume":null,"type":"article","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/A5084339424","display_name":"Lawrence J. Jennings","orcid":"https://orcid.org/0000-0001-8669-7774","observed_orcids":["https://orcid.org/0000-0001-8669-7774"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I1294278766","display_name":"Lurie Children's Hospital","ror":"https://ror.org/03a6zw892","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1294278766"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Lawrence J. Jennings","raw_affiliation_strings":["Department of Pathology, Children's Memorial Hospital, Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics, Chicago, IL 60614, USA","Pathology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Children's Memorial Hospital, Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics, Chicago, IL 60614, USA","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I1294278766"]},{"raw_affiliation_string":"Pathology","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Min Yu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Min Yu","raw_affiliation_strings":["Pathology; and","Pathology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pathology; and","institution_ids":[]},{"raw_affiliation_string":"Pathology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053987701","display_name":"Lili Zhou","orcid":"https://orcid.org/0000-0002-0583-1538","observed_orcids":["https://orcid.org/0000-0002-0583-1538"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lili Zhou","raw_affiliation_strings":["Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032096758","display_name":"Casey M. Rand","orcid":"https://orcid.org/0000-0003-1077-8978","observed_orcids":["https://orcid.org/0000-0003-1077-8978"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I1294278766","display_name":"Lurie Children's Hospital","ror":"https://ror.org/03a6zw892","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1294278766"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Casey M. Rand","raw_affiliation_strings":["Pediatrics, Children's Memorial Hospital, Northwestern University Feinberg School of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, Children's Memorial Hospital, Northwestern University Feinberg School of Medicine","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I1294278766"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016953572","display_name":"Elizabeth Berry\u2010Kravis","orcid":"https://orcid.org/0000-0001-7099-1522","observed_orcids":["https://orcid.org/0000-0001-7099-1522"]},"institutions":[{"id":"https://openalex.org/I1285301757","display_name":"Rush University Medical Center","ror":"https://ror.org/01j7c0b24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285301757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elizabeth M. Berry-Kravis","raw_affiliation_strings":["Neurological Sciences and Biochemistry, Rush University Medical Center, Chicago, IL","Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurological Sciences and Biochemistry, Rush University Medical Center, Chicago, IL","institution_ids":["https://openalex.org/I1285301757"]},{"raw_affiliation_string":"Pediatrics","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5011123487","display_name":"Debra E. Weese\u2010Mayer","orcid":"https://orcid.org/0000-0001-6061-220X","observed_orcids":["https://orcid.org/0000-0001-6061-220X"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I1294278766","display_name":"Lurie Children's Hospital","ror":"https://ror.org/03a6zw892","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1294278766"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Debra E. Weese-Mayer","raw_affiliation_strings":["Pediatrics, Children's Memorial Hospital, Northwestern University Feinberg School of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, Children's Memorial Hospital, Northwestern University Feinberg School of Medicine","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I1294278766"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5084339424"],"corresponding_institution_ids":["https://openalex.org/I111979921","https://openalex.org/I1294278766"],"apc_list":null,"apc_paid":null,"fwci":1.078,"has_fulltext":false,"cited_by_count":25,"citation_normalized_percentile":{"value":0.77636009,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"19","issue":"4","first_page":"224","last_page":"231"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8173999786376953,"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":0.8173999786376953,"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/T11456","display_name":"Neuroscience of respiration and sleep","score":0.14720000326633453,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"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/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.006099999882280827,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/congenital-central-hypoventilation-syndrome","display_name":"congenital central hypoventilation syndrome","score":0.9940000176429749},{"id":"https://openalex.org/keywords/phox2b","display_name":"PHOX2B","score":0.9359999895095825},{"id":"https://openalex.org/keywords/mosaicism","display_name":"mosaicism","score":0.8669999837875366},{"id":"https://openalex.org/keywords/sequence-analysis","display_name":"sequence analysis","score":0.6359999775886536},{"id":"https://openalex.org/keywords/detection-limit","display_name":"detection limit","score":0.9580000042915344},{"id":"https://openalex.org/keywords/gc-rich-regions","display_name":"GC-rich regions","score":0.875},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.7509999871253967},{"id":"https://openalex.org/keywords/diagnostic-test-comparison","display_name":"diagnostic test comparison","score":0.5220000147819519}],"concepts":[{"id":"https://openalex.org/C2910106207","wikidata":"https://www.wikidata.org/wiki/Q979129","display_name":"Congenital central hypoventilation syndrome","level":4,"score":0.763687252998352},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6460162997245789},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5991663336753845},{"id":"https://openalex.org/C163565370","wikidata":"https://www.wikidata.org/wiki/Q4308623","display_name":"Mutation testing","level":4,"score":0.5869194269180298},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5680030584335327},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5026171207427979},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4503737986087799},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3442029356956482},{"id":"https://openalex.org/C2779594553","wikidata":"https://www.wikidata.org/wiki/Q1641494","display_name":"Hypoventilation","level":3,"score":0.16810834407806396},{"id":"https://openalex.org/C534529494","wikidata":"https://www.wikidata.org/wiki/Q7891","display_name":"Respiratory system","level":2,"score":0.06740269064903259},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002353","descriptor_name":"Carrier State","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D007040","descriptor_name":"Hypoventilation","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D007040","descriptor_name":"Hypoventilation","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020182","descriptor_name":"Sleep Apnea, Central","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D025202","descriptor_name":"Molecular Diagnostic Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D057230","descriptor_name":"Limit of Detection","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/pdm.0b013e3181eb92ff","doi":"https://doi.org/10.1097/pdm.0b013e3181eb92ff","is_oa":false,"landing_page_url":"https://doi.org/10.1097/pdm.0b013e3181eb92ff","pdf_url":null,"source":{"id":"https://openalex.org/S99097673","display_name":"Diagnostic Molecular Pathology","issn_l":"1052-9551","issn":["1052-9551"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Diagnostic Molecular Pathology","raw_type":"journal-article"},{"id":"pmid:21051998","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21051998","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":"Diagnostic molecular pathology : the American journal of surgical pathology, part B","raw_type":"Comparative Study"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1230484262","https://openalex.org/W1891575193","https://openalex.org/W1903603555","https://openalex.org/W1972900207","https://openalex.org/W1973305045","https://openalex.org/W1989174024","https://openalex.org/W1994355548","https://openalex.org/W1997860952","https://openalex.org/W2001901065","https://openalex.org/W2018008165","https://openalex.org/W2039243284","https://openalex.org/W2040236110","https://openalex.org/W2057822345","https://openalex.org/W2065657493","https://openalex.org/W2078139327","https://openalex.org/W2117063762","https://openalex.org/W2117120482","https://openalex.org/W2130100784","https://openalex.org/W2131910777","https://openalex.org/W2139546735","https://openalex.org/W2142480586","https://openalex.org/W2152660368","https://openalex.org/W4299704692"],"related_works":["https://openalex.org/W2328825075","https://openalex.org/W2618879869","https://openalex.org/W2003442672","https://openalex.org/W2332184011","https://openalex.org/W1994858251","https://openalex.org/W1903603555","https://openalex.org/W7095935238","https://openalex.org/W2912255451","https://openalex.org/W2152660368","https://openalex.org/W7055785893"],"abstract_inverted_index":{"Clinical":[0],"diagnostic":[1,103,247],"testing":[2,87,114,176,248],"for":[3,102,115,152,189],"congenital":[4],"central":[5],"hypoventilation":[6],"syndrome":[7],"(CCHS)":[8],"usually":[9],"involves":[10],"amplification":[11],"and":[12,89,120,132,144,158,167,192,250],"detection":[13,101,111,151],"by":[14,57],"(1)":[15],"targeted":[16,117,164,178],"mutation":[17,118,165,179],"analysis":[18,119,166,180],"or":[19,38],"(2)":[20],"sequence":[21,121,168],"analysis.":[22,122],"Test":[23,123],"method":[24,249],"performance":[25],"differences":[26],"are":[27],"more":[28,182],"pronounced":[29],"when":[30,242],"studying":[31],"difficult":[32],"templates":[33],"[eg,":[34],"guanine-cytosine":[35],"(GC)-rich":[36],"regions]":[37],"samples":[39,124],"with":[40,51,163],"abnormal":[41],"allele":[42,161],"ratios":[43],"(eg,":[44],"mosaicism).":[45],"CCHS,":[46],"an":[47],"autosomal":[48],"dominant":[49],"disorder":[50],"identified":[52],"mosaic":[53,146],"carriers,":[54],"is":[55,181,199],"caused":[56],"expansion":[58,130,154,191],"mutations":[59,78,131,155,205],"of":[60,65,73,84,97,100,110,142,150,197,212,217],"the":[61,66,95,98,108,208,219,233],"GC-rich":[62,86],"polyalanine-coding":[63],"region":[64,88],"PHOX2B":[67,77,129,134,153,175,198],"gene":[68],"in":[69,79,92,112,224,226],"greater":[70],"than":[71],"90%":[72],"patients":[74],"(and":[75],"other":[76],"remaining":[80,209],"patients).":[81],"The":[82,148],"combination":[83,216],"a":[85,140,244],"known":[90],"mosaicism":[91,188],"CCHS":[93,213],"necessitates":[94],"determination":[96],"limit":[99,109,149],"tests.":[104],"This":[105],"study":[106],"compared":[107],"CCHS-PHOX2B":[113],"both":[116,218],"included":[125],"6":[126],"differentially":[127],"sized":[128],"1":[133,228],"deletion":[135,193],"mutation,":[136],"all":[137],"diluted":[138],"over":[139],"range":[141],"concentrations;":[143],"2":[145],"dyads.":[147],"was":[156],"1%":[157],"20%":[159],"mutant":[160],"concentration":[162],"analysis,":[169],"respectively.":[170],"These":[171,236],"results":[172,237],"indicate":[173],"that":[174,206],"using":[177],"likely":[183],"to":[184,201,231],"identify":[185,232],"even":[186],"low-level":[187],"polyalanine":[190],"mutations.":[194],"However,":[195],"sequencing":[196],"required":[200,223],"detect":[202],"single":[203],"base-pair":[204],"cause":[207],"small":[210],"subset":[211],"cases.":[214],"A":[215],"tests":[220],"may":[221],"be":[222],"cases":[225],"which":[227],"test":[229],"fails":[230],"disease-causing":[234],"mutation.":[235],"can":[238],"help":[239],"guide":[240],"clinicians":[241],"choosing":[243],"CCHS/PHOX2B":[245],"clinical":[246],"interpreting":[251],"results.":[252]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}