Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

American Journal of Human Genetics

Volumn 92, Issue 2, 2013, Pages 210-220

  Beunders, Gea ^a   Voorhoeve, Els ^a   Golzio, Christelle ^b   Pardo, Luba M ^a   Rosenfeld, Jill A ^c   Talkowski, Michael E ^d,e   Simonic, Ingrid ^f   Lionel, Anath C ^g,h   Vergult, Sarah ⁱ   Pyatt, Robert E ^j,k   Van De Kamp, Jiddeke ^a   Nieuwint, Aggie ^a   Weiss, Marjan M ^a   Rizzu, Patrizia ^a   Verwer, Lucilla E N I ^a   Van Spaendonk, Rosalina M L ^a   Shen, Yiping ^d,l,m   Wu, Bai Lin ^l,n   Yu, Tingting ^l,m   Yu, Yongguo ^l,m   Chiang, Colby ^d   Gusella, James F ^d,e   Lindgren, Amelia M ^o,p   Morton, Cynthia C ^e,o,p   Van Binsbergen, Ellen ^q   Bulk, Saskia ^q   Van Rossem, Els ^r   Vanakker, Olivier ⁱ   Armstrong, Ruth ^f   Park, Soo Mi ^f   Greenhalgh, Lynn ^s   Maye, Una ^s   Neill, Nicholas J ^c   Abbott, Kristin M ^f   Sell, Susan ^t   Ladda, Roger ^t   Farber, Darren M ^u   Bader, Patricia I ^v   Cushing, Tom ^w   Drautz, Joanne M ^w   Konczal, Laura ^x   Nash, Patricia ^j   De Los Reyes, Emily ^k   Carter, Melissa T ^y   Hopkins, Elizabeth ^z   Marshall, Christian R ^g,h   Osborne, Lucy R ^aa   Gripp, Karen W ^z   Thrush, Devon Lamb ^j,k   Hashimoto, Sayaka ^j   Gastier Foster, Julie M ^j,k   Astbury, Caroline ^j,k   Ylstra, Bauke ^a   Meijers Heijboer, Hanne ^a   Posthuma, Danielle ^a,ab,ac   Menten, Björn ⁱ   Mortier, Geert ^ad   Scherer, Stephen W ^g,h   Eichler, Evan E ^ae   Girirajan, Santhosh ^ae,af   Katsanis, Nicholas ^b   Groffen, Alexander J ^a,ab   Sistermans, Erik A ^a   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c PerkinElmer   (United States)

^d HARVARD UNIVERSITY   (United States)

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

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

^j NATIONWIDE CHILDREN S HOSPITAL   (United States)

^k OHIO STATE UNIVERSITY   (United States)

^l BOSTON CHILDREN S HOSPITAL   (United States)

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

ⁿ FUDAN UNIVERSITY   (China)

^o BRIGHAM AND WOMEN S HOSPITAL   (United States)

^p HARVARD MEDICAL SCHOOL   (United States)

^q UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^r Onze Lieve Vrouwe Ziekenhuis   (Belgium)

^s ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^t PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^u University of Louisville School of Medicine   (United States)

^v Northeast Indiana Genetic Counseling Center   (United States)

^w UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^x UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^y HOSPITAL FOR SICK CHILDREN   (Canada)

^z NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^aa UNIVERSITY OF TORONTO   (Canada)

^ab VU UNIVERSITY AMSTERDAM   (Netherlands)

^ac ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^ad UNIVERSITY OF ANTWERP   (Belgium)

^ae UNIVERSITY OF WASHINGTON   (United States)

^af PENNSYLVANIA STATE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; AUTS2 SYNDROME; CARBOXY TERMINAL SEQUENCE; CEREBRAL PALSY; CHILD; COGNITIVE DEFECT; CONTROLLED STUDY; EMBRYO; EXON; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE LOCUS; GENE TRANSLOCATION; GENETIC DISORDER; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; ZEBRA FISH;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EXONS; FACIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTEIN ISOFORMS; PROTEINS; SEQUENCE DELETION; SUPPRESSION, GENETIC; SYNDROME; YOUNG ADULT; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 84873732078     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.12.011     Document Type: Article

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