De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

Nature Genetics

Volumn 41, Issue 8, 2009, Pages 931-935

  Greenway, Steven C ^a   Pereira, Alexandre C ^b   Lin, Jennifer C ^a   Depalma, Steven R ^a   Israel, Samuel J ^a   Mesquita, Sonia M ^b   Ergul, Emel ^c   Conta, Jessie H ^c   Korn, Joshua M ^a,d   McCarroll, Steven A ^a,d   Gorham, Joshua M ^a   Gabriel, Stacey ^d   Altshuler, David M ^a,d   De Lourdes Quintanilla Dieck, Maria ^a,e   Artunduaga, Maria Alexandra ^a,e   Eavey, Roland D ^e   Plenge, Robert M ^d,f   Shadick, Nancy A ^f   Weinblatt, Michael E ^f   De Jager, Philip L ^d,g   Hafler, David A ^d,g   Breitbart, Roger E ^c   Seidman, Jonathan G ^a   Seidman, Christine E ^a,f   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^e MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

JAGGED1; NOTCH1 RECEPTOR; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME 3P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DOPPLER ECHOCARDIOGRAPHY; FALLOT TETRALOGY; FEMALE; GENE LOCUS; GENE MUTATION; GENOME; GENOME WIDE SURVEY; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 3; GENE DOSAGE; GENE EXPRESSION REGULATION; GENETIC VARIATION; HEART VENTRICLES; HUMANS; PHENOTYPE; TETRALOGY OF FALLOT;

EID: 68149181705     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.415     Document Type: Article

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