Natja Haag, Ene-Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, Angeline H M Lai, Maggie Brett, Ganeshwaran H Mochida, Stephanie DiTroia, Lynn Pais, Jennifer E Neil, Muna Al-Saffar, Laila Bastaki, Christopher A Walsh, Ingo Kurth, Cordula Knopp. Eur J Hum Genet 2021
Times Cited: 3
Times Cited: 3
Times Cited
Times Co-cited
Similarity
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vache, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar,[...]. Brain 2020
Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vache, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar,[...]. Brain 2020
66
Hyposmia and cognitive impairment in Gaucher disease patients and carriers.
Alisdair McNeill, Raquel Duran, Christos Proukakis, Jose Bras, Derralyn Hughes, Atuhl Mehta, John Hardy, Nicholas W Wood, Anthony H V Schapira. Mov Disord 2012
Alisdair McNeill, Raquel Duran, Christos Proukakis, Jose Bras, Derralyn Hughes, Atuhl Mehta, John Hardy, Nicholas W Wood, Anthony H V Schapira. Mov Disord 2012
33
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
A Arteche-López, M I Álvarez-Mora, M T Sánchez Calvin, J M Lezana Rosales, C Palma Milla, M J Gómez Rodríguez, I Gomez Manjón, A Blázquez, A Juarez Rufián, P Ramos Gómez,[...]. Eur J Hum Genet 2021
A Arteche-López, M I Álvarez-Mora, M T Sánchez Calvin, J M Lezana Rosales, C Palma Milla, M J Gómez Rodríguez, I Gomez Manjón, A Blázquez, A Juarez Rufián, P Ramos Gómez,[...]. Eur J Hum Genet 2021
50
Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
Xiao Fan, Julia Wynn, Ning Shang, Cong Liu, Alexander Fedotov, Miranda L G Hallquist, Adam H Buchanan, Marc S Williams, Maureen E Smith, Christin Hoell,[...]. JNCI Cancer Spectr 2021
Xiao Fan, Julia Wynn, Ning Shang, Cong Liu, Alexander Fedotov, Miranda L G Hallquist, Adam H Buchanan, Marc S Williams, Maureen E Smith, Christin Hoell,[...]. JNCI Cancer Spectr 2021
50
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris,[...]. J Med Genet 2019
Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris,[...]. J Med Genet 2019
33
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
David B Beck, Ana Petracovici, Chongsheng He, Hannah W Moore, Raymond J Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P Santos-Cortez,[...]. Am J Hum Genet 2020
David B Beck, Ana Petracovici, Chongsheng He, Hannah W Moore, Raymond J Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P Santos-Cortez,[...]. Am J Hum Genet 2020
33
A comparison of genotyping arrays.
Joost A M Verlouw, Eva Clemens, Jard H de Vries, Oliver Zolk, Annemieke J M H Verkerk, Antoinette Am Zehnhoff-Dinnesen, Carolina Medina-Gomez, Claudia Lanvers-Kaminsky, Fernando Rivadeneira, Thorsten Langer,[...]. Eur J Hum Genet 2021
Joost A M Verlouw, Eva Clemens, Jard H de Vries, Oliver Zolk, Annemieke J M H Verkerk, Antoinette Am Zehnhoff-Dinnesen, Carolina Medina-Gomez, Claudia Lanvers-Kaminsky, Fernando Rivadeneira, Thorsten Langer,[...]. Eur J Hum Genet 2021
33
Stakeholders' views of integrating universal tumour screening and genetic testing for colorectal and endometrial cancer into routine oncology.
Rosie O'Shea, Nicole M Rankin, Maira Kentwell, Margaret Gleeson, Katherine M Tucker, Heather Hampel, Natalie Taylor, Sarah Lewis. Eur J Hum Genet 2021
Rosie O'Shea, Nicole M Rankin, Maira Kentwell, Margaret Gleeson, Katherine M Tucker, Heather Hampel, Natalie Taylor, Sarah Lewis. Eur J Hum Genet 2021
100
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.
Kenki Matsumoto, Derek Lim, Paul D Pharoah, Eamonn R Maher, Stefan J Marciniak. Eur J Hum Genet 2021
Kenki Matsumoto, Derek Lim, Paul D Pharoah, Eamonn R Maher, Stefan J Marciniak. Eur J Hum Genet 2021
33
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Aafke Engwerda, Erika K S M Leenders, Barbara Frentz, Paulien A Terhal, Katharina Löhner, Bert B A de Vries, Trijnie Dijkhuizen, Yvonne J Vos, Tuula Rinne, Maarten P van den Berg,[...]. Eur J Hum Genet 2021
Aafke Engwerda, Erika K S M Leenders, Barbara Frentz, Paulien A Terhal, Katharina Löhner, Bert B A de Vries, Trijnie Dijkhuizen, Yvonne J Vos, Tuula Rinne, Maarten P van den Berg,[...]. Eur J Hum Genet 2021
33
The genetic structure of Norway.
Morten Mattingsdal, S Sunna Ebenesersdóttir, Kristjan H S Moore, Ole A Andreassen, Thomas F Hansen, Thomas Werge, Ingrid Kockum, Tomas Olsson, Lars Alfredsson, Agnar Helgason,[...]. Eur J Hum Genet 2021
Morten Mattingsdal, S Sunna Ebenesersdóttir, Kristjan H S Moore, Ole A Andreassen, Thomas F Hansen, Thomas Werge, Ingrid Kockum, Tomas Olsson, Lars Alfredsson, Agnar Helgason,[...]. Eur J Hum Genet 2021
33
Identifying challenges in neurofibromatosis: a modified Delphi procedure.
Britt A E Dhaenens, Rosalie E Ferner, Annette Bakker, Marco Nievo, D Gareth Evans, Pierre Wolkenstein, Cornelia Potratz, Scott R Plotkin, Guenter Heimann, Eric Legius,[...]. Eur J Hum Genet 2021
Britt A E Dhaenens, Rosalie E Ferner, Annette Bakker, Marco Nievo, D Gareth Evans, Pierre Wolkenstein, Cornelia Potratz, Scott R Plotkin, Guenter Heimann, Eric Legius,[...]. Eur J Hum Genet 2021
100
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.
Moran Hausman-Kedem, Liat Ben-Sira, Debora Kidron, Shay Ben-Shachar, Rachel Straussberg, Daphna Marom, Penina Ponger, Anat Bar-Shira, Gustavo Malinger, Aviva Fattal-Valevski. Eur J Hum Genet 2021
Moran Hausman-Kedem, Liat Ben-Sira, Debora Kidron, Shay Ben-Shachar, Rachel Straussberg, Daphna Marom, Penina Ponger, Anat Bar-Shira, Gustavo Malinger, Aviva Fattal-Valevski. Eur J Hum Genet 2021
50
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo, Paola Grammatico. Endocr Connect 2014
Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo, Paola Grammatico. Endocr Connect 2014
33
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
Fatma Dursun, Serdar Ceylaner. J Clin Res Pediatr Endocrinol 2019
Fatma Dursun, Serdar Ceylaner. J Clin Res Pediatr Endocrinol 2019
33
Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.
Evgenia Globa, Nataliya Zelinska, Nina Siryk, Anu Bashamboo, Kenneth McElreavey. Sex Dev 2020
Evgenia Globa, Nataliya Zelinska, Nina Siryk, Anu Bashamboo, Kenneth McElreavey. Sex Dev 2020
100
Clinical findings in patients with GLI2 mutations--phenotypic variability.
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, A Richieri-Costa, J C Murray. Clin Genet 2012
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, A Richieri-Costa, J C Murray. Clin Genet 2012
33
Translational genetics for diagnosis of human disorders of sex development.
Ruth M Baxter, Eric Vilain. Annu Rev Genomics Hum Genet 2013
Ruth M Baxter, Eric Vilain. Annu Rev Genomics Hum Genet 2013
33
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.
Qiu-Yue Wu, Na Li, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui, Xin-Yi Xia, Jin-Sheng Zhai. BMC Urol 2014
Qiu-Yue Wu, Na Li, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui, Xin-Yi Xia, Jin-Sheng Zhai. BMC Urol 2014
33
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Ja Hye Kim, Eungu Kang, Sun Hee Heo, Gu-Hwan Kim, Ja-Hyun Jang, Eun-Hae Cho, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi. Mol Cell Endocrinol 2017
Ja Hye Kim, Eungu Kang, Sun Hee Heo, Gu-Hwan Kim, Ja-Hyun Jang, Eun-Hae Cho, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi. Mol Cell Endocrinol 2017
33
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Ken McElreavey, Anne Jorgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Denis Houzelstein, Federica Buonocore, Nick Warr, Raissa G G Kay,[...]. Genet Med 2020
Ken McElreavey, Anne Jorgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Denis Houzelstein, Federica Buonocore, Nick Warr, Raissa G G Kay,[...]. Genet Med 2020
33
Histological Assessment of Gonads in DSD: Relevance for Clinical Management.
Johannes A Spoor, J Wolter Oosterhuis, Remko Hersmus, Katharina Biermann, Katja P Wolffenbuttel, Martine Cools, Zainab Kazmi, Syed F Ahmed, Leendert H J Looijenga. Sex Dev 2018
Johannes A Spoor, J Wolter Oosterhuis, Remko Hersmus, Katharina Biermann, Katja P Wolffenbuttel, Martine Cools, Zainab Kazmi, Syed F Ahmed, Leendert H J Looijenga. Sex Dev 2018
33
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
S F Ahmed, A Cheng, L Dovey, J R Hawkins, H Martin, J Rowland, N Shimura, A D Tait, I A Hughes. J Clin Endocrinol Metab 2000
S F Ahmed, A Cheng, L Dovey, J R Hawkins, H Martin, J Rowland, N Shimura, A D Tait, I A Hughes. J Clin Endocrinol Metab 2000
33
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Ruti Parvari, Eli Hershkovitz, Nili Grossman, Rafael Gorodischer, Bart Loeys, Alexandra Zecic, Geert Mortier, Simon Gregory, Reuven Sharony, Marios Kambouris,[...]. Nat Genet 2002
Ruti Parvari, Eli Hershkovitz, Nili Grossman, Rafael Gorodischer, Bart Loeys, Alexandra Zecic, Geert Mortier, Simon Gregory, Reuven Sharony, Marios Kambouris,[...]. Nat Genet 2002
33
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.
Peter A Lee, Anna Nordenström, Christopher P Houk, S Faisal Ahmed, Richard Auchus, Arlene Baratz, Katharine Baratz Dalke, Lih-Mei Liao, Karen Lin-Su, Leendert H J Looijenga,[...]. Horm Res Paediatr 2016
Peter A Lee, Anna Nordenström, Christopher P Houk, S Faisal Ahmed, Richard Auchus, Arlene Baratz, Katharine Baratz Dalke, Lih-Mei Liao, Karen Lin-Su, Leendert H J Looijenga,[...]. Horm Res Paediatr 2016
33
New genomic technologies: an aid for diagnosis of disorders of sex development.
H Barseghyan, E Délot, E Vilain. Horm Metab Res 2015
H Barseghyan, E Délot, E Vilain. Horm Metab Res 2015
33
The androgen receptor gene mutations database: 2012 update.
Bruce Gottlieb, Lenore K Beitel, Abbesha Nadarajah, Miltiadis Paliouras, Mark Trifiro. Hum Mutat 2012
Bruce Gottlieb, Lenore K Beitel, Abbesha Nadarajah, Miltiadis Paliouras, Mark Trifiro. Hum Mutat 2012
33
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.
Peter A Lee, Christopher P Houk, S Faisal Ahmed, Ieuan A Hughes. Pediatrics 2006
Peter A Lee, Christopher P Houk, S Faisal Ahmed, Ieuan A Hughes. Pediatrics 2006
33
33
Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.
I del Castillo, M Cohen-Salmon, S Blanchard, G Lutfalla, C Petit. Nat Genet 1992
I del Castillo, M Cohen-Salmon, S Blanchard, G Lutfalla, C Petit. Nat Genet 1992
33
An unexpected error occurred.
Please provide the following information to technical support:
Error Event: onRequest
Error details:
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Detail | An exception occurred while invoking an event handler method from Application.cfc. The method name is: onRequest. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Message | Event handler exception. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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StackTrace | coldfusion.runtime.EventHandlerException: Event handler exception. at coldfusion.runtime.AppEventInvoker.onRequest(AppEventInvoker.java:319) at coldfusion.filter.ApplicationFilter.invoke(ApplicationFilter.java:551) at coldfusion.filter.RequestMonitorFilter.invoke(RequestMonitorFilter.java:43) at coldfusion.filter.MonitoringFilter.invoke(MonitoringFilter.java:40) at coldfusion.filter.PathFilter.invoke(PathFilter.java:162) at coldfusion.filter.IpFilter.invoke(IpFilter.java:45) at coldfusion.filter.ExceptionFilter.invoke(ExceptionFilter.java:96) at coldfusion.filter.ClientScopePersistenceFilter.invoke(ClientScopePersistenceFilter.java:28) at coldfusion.filter.BrowserFilter.invoke(BrowserFilter.java:38) at coldfusion.filter.NoCacheFilter.invoke(NoCacheFilter.java:60) at coldfusion.filter.GlobalsFilter.invoke(GlobalsFilter.java:38) at coldfusion.filter.DatasourceFilter.invoke(DatasourceFilter.java:22) at coldfusion.filter.CachingFilter.invoke(CachingFilter.java:62) at coldfusion.CfmServlet.service(CfmServlet.java:226) at coldfusion.bootstrap.BootstrapServlet.service(BootstrapServlet.java:311) at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:228) at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:163) at coldfusion.monitor.event.MonitoringServletFilter.doFilter(MonitoringServletFilter.java:46) at coldfusion.bootstrap.BootstrapFilter.doFilter(BootstrapFilter.java:47) at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:190) at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:163) at org.apache.tomcat.websocket.server.WsFilter.doFilter(WsFilter.java:53) at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:190) at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:163) at org.apache.catalina.core.StandardWrapperValve.invoke(StandardWrapperValve.java:202) at org.apache.catalina.core.StandardContextValve.invoke(StandardContextValve.java:97) at org.apache.catalina.authenticator.AuthenticatorBase.invoke(AuthenticatorBase.java:542) at org.apache.catalina.core.StandardHostValve.invoke(StandardHostValve.java:143) at org.apache.catalina.valves.ErrorReportValve.invoke(ErrorReportValve.java:92) at org.apache.catalina.core.StandardEngineValve.invoke(StandardEngineValve.java:78) at org.apache.catalina.connector.CoyoteAdapter.service(CoyoteAdapter.java:373) at org.apache.coyote.ajp.AjpProcessor.service(AjpProcessor.java:462) at org.apache.coyote.AbstractProcessorLight.process(AbstractProcessorLight.java:65) at org.apache.coyote.AbstractProtocol$ConnectionHandler.process(AbstractProtocol.java:893) at org.apache.tomcat.util.net.NioEndpoint$SocketProcessor.doRun(NioEndpoint.java:1723) at org.apache.tomcat.util.net.SocketProcessorBase.run(SocketProcessorBase.java:49) at java.base/java.util.concurrent.ThreadPoolExecutor.runWorker(ThreadPoolExecutor.java:1128) at java.base/java.util.concurrent.ThreadPoolExecutor$Worker.run(ThreadPoolExecutor.java:628) at org.apache.tomcat.util.threads.TaskThread$WrappingRunnable.run(TaskThread.java:61) at java.base/java.lang.Thread.run(Thread.java:834) Caused by: coldfusion.runtime.UDFMethod$InvalidArgumentTypeException: The COCITEDARTICLECITATION_COUNT argument passed to the calculArticleSimilarity function is not of type numeric. at coldfusion.runtime.UDFMethod._validateArgWithValidator(UDFMethod.java:1434) at coldfusion.runtime.UDFMethod._validateRequiredArg(UDFMethod.java:1400) at cfpubmed2ecfc1897273376$funcCALCULARTICLESIMILARITY.runFunction(C:\home\cocites.com\wwwroot\cfc\pubmed.cfc:215) at coldfusion.runtime.UDFMethod.invoke(UDFMethod.java:554) at coldfusion.runtime.UDFMethod$ReturnTypeFilter.invoke(UDFMethod.java:485) at coldfusion.runtime.UDFMethod$ArgumentCollectionFilter.invoke(UDFMethod.java:448) at coldfusion.filter.FunctionAccessFilter.invoke(FunctionAccessFilter.java:95) at coldfusion.runtime.UDFMethod.runFilterChain(UDFMethod.java:399) at coldfusion.runtime.UDFMethod.runFilterChain(UDFMethod.java:372) at coldfusion.runtime.UDFMethod.invoke(UDFMethod.java:288) at coldfusion.runtime.TemplateProxy.invoke(TemplateProxy.java:830) at coldfusion.runtime.TemplateProxy.invoke(TemplateProxy.java:613) at coldfusion.runtime.TemplateProxy.invoke(TemplateProxy.java:438) at coldfusion.runtime.CfJspPage._invoke(CfJspPage.java:3627) at coldfusion.runtime.CfJspPage._invoke(CfJspPage.java:3604) at cfcoCitedArticles2ecfm1072712._factor11(C:\home\cocites.com\wwwroot\coCitedArticles.cfm:483) at cfcoCitedArticles2ecfm1072712._factor14(C:\home\cocites.com\wwwroot\coCitedArticles.cfm:401) at cfcoCitedArticles2ecfm1072712._factor15(C:\home\cocites.com\wwwroot\coCitedArticles.cfm:321) at cfcoCitedArticles2ecfm1072712._factor17(C:\home\cocites.com\wwwroot\coCitedArticles.cfm:298) at cfcoCitedArticles2ecfm1072712.runPage(C:\home\cocites.com\wwwroot\coCitedArticles.cfm:1) at coldfusion.runtime.CfJspPage.invoke(CfJspPage.java:262) at coldfusion.tagext.lang.IncludeTag.handlePageInvoke(IncludeTag.java:735) at coldfusion.tagext.lang.IncludeTag.doStartTag(IncludeTag.java:565) at coldfusion.runtime.CfJspPage._emptyTcfTag(CfJspPage.java:4329) at cfApplication2ecfc1402755519$funcONREQUEST.runFunction(C:\home\cocites.com\wwwroot\Application.cfc:182) at coldfusion.runtime.UDFMethod.invoke(UDFMethod.java:554) at coldfusion.runtime.UDFMethod$ReturnTypeFilter.invoke(UDFMethod.java:485) at coldfusion.runtime.UDFMethod$ArgumentCollectionFilter.invoke(UDFMethod.java:448) at coldfusion.filter.FunctionAccessFilter.invoke(FunctionAccessFilter.java:95) at coldfusion.runtime.UDFMethod.runFilterChain(UDFMethod.java:399) at coldfusion.runtime.UDFMethod.runFilterChain(UDFMethod.java:372) at coldfusion.runtime.UDFMethod.invoke(UDFMethod.java:288) at coldfusion.runtime.TemplateProxy.invoke(TemplateProxy.java:830) at coldfusion.runtime.TemplateProxy.invoke(TemplateProxy.java:613) at coldfusion.runtime.TemplateProxy.invoke(TemplateProxy.java:438) at coldfusion.runtime.AppEventInvoker.invoke(AppEventInvoker.java:115) at coldfusion.runtime.AppEventInvoker.onRequest(AppEventInvoker.java:308) ... 39 more | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Suppressed |
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TagContext |
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Type | Application | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
name | onRequest |