A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Journal of Medical Genetics

Volumn 51, Issue 6, 2014, Pages 419-424

  Akimoto, Chizuru ^a   Volk, Alexander E ^b   van Blitterswijk, Marka ^c   Van den Broeck, Marleen ^d,e   Leblond, Claire S ^f   Lumbroso, Serge ^g   Camu, William ^h   Neitzel, Birgit ⁱ   Onodera, Osamu ^j   van Rheenen, Wouter ^k   Pinto, Susana ^l   Weber, Markus ^m   Smith, Bradley ⁿ   Proven, Melanie ^o   Talbot, Kevin ^p   Keagle, Pamela ^q   Chesi, Alessandra ^r   Ratti, Antonia ^s,t   van der Zee, Julie ^d,e   Alstermark, Helena ^a   Birve, Anna ^a   Calini, Daniela ^s,t   Nordin, Angelica ^a   Tradowsky, Daniela C ^b   Just, Walter ^b   Daoud, Hussein ^f   Angerbauer, Sabrina ⁱ   DeJesus Hernandez, Mariely ^c   Konno, Takuya ^j   Lloyd Jani, Anjali ^o   de Carvalho, Mamede ^l   Mouzat, Kevin ^g   Landers, John E ^q   Veldink, Jan H ^k   Silani, Vincenzo ^s,t   Gitler, Aaron D ^r   Shaw, Christopher E ⁿ   Rouleau, Guy A ^f   van den Berg, Leonard H ^k   Van Broeckhoven, Christine ^d,e   Rademakers, Rosa ^u   Andersen, Peter M ^a,b   Kubisch, Christian ^b   more..

^a UMEÅ UNIVERSITY   (Sweden)

^b UNIVERSITY OF ULM   (Germany)

^c MAYO GRADUATE SCHOOL   (United States)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f MCGILL UNIVERSITY   (Canada)

^g NÎMES UNIVERSITY HOSPITAL   (France)

^h GUI DE CHAULIAC HOSPITAL   (France)

ⁱ Medizinisch Genetisches Zentrum   (Germany)

^j NIIGATA UNIVERSITY   (Japan)

^k UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^l INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^m CANTONAL HOSPITAL ST GALLEN   (Switzerland)

ⁿ KING'S COLLEGE LONDON   (United Kingdom)

^o CHURCHILL HOSPITAL   (United Kingdom)

^p UNIVERSITY OF OXFORD   (United Kingdom)

^q UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^r STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^s UNIVERSITY OF MILAN   (Italy)

^t ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^u Department of Neurology University of Ulm ^*

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMPLICON; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 9 OPEN READING FRAME 72 GENE; DIAGNOSTIC TEST ACCURACY STUDY; FALSE NEGATIVE RESULT; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENETIC SCREENING; GENOTYPE; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; PERSONAL EXPERIENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SOUTHERN BLOTTING; GENETICS; LABORATORY DIAGNOSIS; PROCEDURES; REPRODUCIBILITY; STANDARDS;

C9ORF72 PROTEIN, HUMAN; PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; CLINICAL LABORATORY SERVICES; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC TESTING; HUMANS; MALE; PROTEINS; REPRODUCIBILITY OF RESULTS;

EID: 84901475610     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102360     Document Type: Article

References (13)

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