Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

Journal of Medical Genetics

Volumn 52, Issue 9, 2015, Pages 575-584

  Ghemlas, Ibrahim ^a,b,c   Li, Hongbing ^a   Zlateska, Bozana ^a   Klaassen, Robert ^d   Fernandez, Conrad V ^e   Yanofsky, Rochelle A ^f   Wu, John ^g   Pastore, Yves ^h   Silva, Mariana ⁱ   Lipton, Jeff H ^j   Brossard, Josee ^k   Michon, Bruno ^l   Abish, Sharon ^m   Steele, MacGregor ⁿ   Sinha, Roona ^o   Belletrutti, Mark ^p   Breakey, Vicky R ^q   Jardine, Lawrence ^r   Goodyear, Lisa ^s   Sung, Lillian ^t   Dhanraj, Santhosh ^a,u   Reble, Emma ^a   Wagner, Amanda ^b   Beyene, Joseph ^v   Ray, Peter ^a,b   Meyn, Stephen ^a   Cada, Michaela ^b   Dror, Yigal ^a,b,u   more..

^a Research Institute   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^e IWK HEALTH CENTRE   (Canada)

^f CANCERCARE MANITOBA   (Canada)

^g BC CHILDREN S HOSPITAL   (Canada)

^h UNIVERSITY OF MONTREAL   (Canada)

ⁱ QUEEN S UNIVERSITY   (Canada)

^j PRINCESS MARGARET HOSPITAL   (Canada)

^k CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^l LAVAL UNIVERSITY   (Canada)

^m MONTREAL CHILDREN S HOSPITAL   (Canada)

ⁿ ALBERTA CHILDREN'S HOSPITAL   (Canada)

^o UNIVERSITY OF SASKATCHEWAN   (Canada)

^p UNIVERSITY OF ALBERTA   (Canada)

^q MCMASTER CHILDREN S HOSPITAL   (Canada)

^r LONDON HEALTH SCIENCES CENTRE   (Canada)

^s New Janeway Childrens Health and Rehabilitation Centre   (Canada)

^t HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^u UNIVERSITY OF TORONTO   (Canada)

^v MCMASTER UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BONE MARROW DEPRESSION; CANCER EPIDEMIOLOGY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE CLASSIFICATION; FANCONI ANEMIA; G6PC3 GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GENOTYPING TECHNIQUE; HUMAN; INHERITED BONE MARROW FAILURE SYNDROME; MAJOR CLINICAL STUDY; MASTL GENE; MYH9 GENE; NEXT GENERATION SEQUENCING; PATIENT CARE; PHENOTYPE; PRIORITY JOURNAL; RTEL1 GENE; SBDS GENE; TERT GENE; TINF2 GENE; WAS GENE; DNA SEQUENCE; GENETICS; HEMOGLOBINURIA, PAROXYSMAL; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; SENSITIVITY AND SPECIFICITY;

HEMOGLOBINURIA, PAROXYSMAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PATIENT CARE; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84947759216     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103270     Document Type: Article

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