Refining analyses of copy number variation identifies specific genes associated with developmental delay

Nature Genetics

Volumn 46, Issue 10, 2014, Pages 1063-1071

  Coe, Bradley P ^a   Witherspoon, Kali ^a   Rosenfeld, Jill A ^b   Van Bon, Bregje W M ^c,d   Vulto Van Silfhout, Anneke T ^c   Bosco, Paolo ^e   Friend, Kathryn L ^d   Baker, Carl ^a   Buono, Serafino ^e   Vissers, Lisenka E L M ^c   Schuurs Hoeijmakers, Janneke H ^c   Hoischen, Alex ^c   Pfundt, Rolph ^c   Krumm, Nik ^a   Carvill, Gemma L ^a   Li, Deana ^f   Amaral, David ^f   Brown, Natasha ^g,h   Lockhart, Paul J ^g   Scheffer, Ingrid E ^g   Alberti, Antonino ^e   Shaw, Marie ^d   Pettinato, Rosa ^e   Tervo, Raymond ⁱ   De Leeuw, Nicole ^c   Reijnders, Margot R F ^c   Torchia, Beth S ^b   Peeters, Hilde ^j,k   Thompson, Elizabeth ^a,m   O'Roak, Brian J ^e,n   Fichera, Marco ^c,o   Hehir Kwa, Jayne Y ^a   Shendure, Jay ^a   Mefford, Heather C ^d,l   Haan, Eric ^d,l   Gécz, Jozef ^c   De Vries, Bert B A ^e   Romano, Corrado ^e   Eichler, Evan E ^a   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b PERKINELMER INC   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d SA PATHOLOGY   (Australia)

^e OASI RESEARCH INSTITUTE IRCCS   (Italy)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h BARWON HEALTH   (Australia)

ⁱ MAYO CLINIC   (United States)

^j UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^k UPC KULeuven Campus Gasthuisberg   (Belgium)

^l UNIVERSITY OF ADELAIDE   (Australia)

^m HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁿ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^o UNIVERSITY OF CATANIA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SET BINDING PROTEIN 1; SODIUM CHANNEL NAV1.2; UNCLASSIFIED DRUG; CARRIER PROTEIN; NUCLEAR PROTEIN; SETBP1 PROTEIN, HUMAN; ZMYND11 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; AGGRESSION; ARTICLE; AUTISM; CHILD; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; EXOME; FEMALE; FOLLOW UP; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HAPLOINSUFFICIENCY; HUMAN; INDEL MUTATION; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEGMENTAL DUPLICATION; YOUNG ADULT; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; DNA SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTISTIC DISORDER; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84922012902     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3092     Document Type: Article

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