Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

American Journal of Human Genetics

Volumn 89, Issue 4, 2011, Pages 551-563

  Talkowski, Michael E ^a,b,c   Mullegama, Sureni V ^d   Rosenfeld, Jill A ^e   Van Bon, Bregje W M ^f   Shen, Yiping ^a,g,h   Repnikova, Elena A ⁱ   Gastier Foster, Julie ^i,j   Thrush, Devon Lamb ^i,j   Kathiresan, Sekar ^a,b,c   Ruderfer, Douglas M ^a,c   Chiang, Colby ^a   Hanscom, Carrie ^a   Ernst, Carl ^a   Lindgren, Amelia M ^k   Morton, Cynthia C ^c,k   An, Yu ^l   Astbury, Caroline ^i,j   Brueton, Louise A ^m   Lichtenbelt, Klaske D ⁿ   Ades, Lesley C ^o   Fichera, Marco ^p   Romano, Corrado ^p   Innis, Jeffrey W ^q   Williams, Charles A ^r   Bartholomew, Dennis ⁱ   Van Allen, Margot I ^s   Parikh, Aditi ^t   Zhang, Lilei ^t   Wu, Bai Lin ^h,l   Pyatt, Robert E ^i,j   Schwartz, Stuart ^u   Shaffer, Lisa G ^e   De Vries, Bert B A ^f   Gusella, James F ^a,b,c   Elsea, Sarah H ^d   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^e PERKINELMER INC   (United States)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ NATIONWIDE CHILDREN S HOSPITAL   (United States)

^j OHIO STATE UNIVERSITY   (United States)

^k BRIGHAM AND WOMEN S HOSPITAL   (United States)

^l FUDAN UNIVERSITY   (China)

^m BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^o UNIVERSITY OF SYDNEY   (Australia)

^p OASI RESEARCH INSTITUTE IRCCS   (Italy)

^q UNIVERSITY OF MICHIGAN   (United States)

^r UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^s UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^t CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^u LABORATORY CORPORATION OF AMERICA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; METHYL CPG BINDING DOMAIN 5; METHYL CPG BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTISM; CHILD; CHROMOSOME 2Q; CHROMOSOME 2Q23; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; COPY NUMBER VARIATION; EPILEPSY; EXOME; FEMALE; GENE DELETION; GENE LOCUS; HAPLOINSUFFICIENCY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; CPG ISLANDS; DNA-BINDING PROTEINS; EPIGENESIS, GENETIC; EPILEPSY; FEMALE; GENE DELETION; HUMANS; INTELLECTUAL DISABILITY; MALE; PHENOTYPE; SYNDROME;

EID: 80053931230     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.09.011     Document Type: Article

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