Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

Developmental Biology

Volumn 382, Issue 1, 2013, Pages 320-329

  Alves, Maria M ^a   Sribudiani, Yunia ^a   Brouwer, Rutger W W ^a,b   Amiel, Jeanne ^c,j   Antiñolo, Guillermo ^d   Borrego, Salud ^d   Ceccherini, Isabella ^e   Chakravarti, Aravinda ^f   Fernández, Raquel M ^d   Garcia Barcelo, Maria Mercè ^g   Griseri, Paola ^e   Lyonnet, Stanislas ^c,j   Tam, Paul K ^g   Van IJcken, Wilfred F J ^a   Eggen, Bart J L ^h   Te Meerman, Gerard J ^h   Hofstra, Robert M W ^a,i  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b NETHERLANDS BIOINFORMATICS CENTRE   (Netherlands)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e G GASLINI INSTITUTE   (Italy)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

Functional assays; GWAS; Hirschsprung disease; Next generation sequencing; Rare variants; Systems biology

Indexed keywords

ARTICLE; COMPUTER ANALYSIS; ECE 1 GENE; EDN3 GENE; EDNRB GENE; FUNCTIONAL ASSESSMENT; GDNF GENE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GFRALPHA1 GENE; HIRSCHSPRUNG DISEASE; HUMAN; KBP GENE; L1CAM GENE; NONHUMAN; NRG1 GENE; NRG3 GENE; NTN GENE; PENETRANCE; PHOX2B GENE; PRIORITY JOURNAL; PSPN GENE; RET GENE; SOX10 GENE; SYSTEMS BIOLOGY; ZFHX1B GENE;

EID: 84884414964     PISSN: 00121606     EISSN: 1095564X     Source Type: Journal    
DOI: 10.1016/j.ydbio.2013.05.019     Document Type: Article

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