# Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/exonic-deletions-in-auts2-cause-a-syndromic-form-of-intellectual-disability-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Gea Beunders,Els Voorhoeve,Christelle Golzio,Luba M. Pardo,Jill A. Rosenfeld,Michael E. Talkowski,Ingrid Simonic,Anath C. Lionel,Sarah Vergult,Robert E. Pyatt,Jiddeke van de Kamp,Aggie Nieuwint,Marjan M. Weiss,Patrizia Rizzu,Lucilla E.N.I. Verwer,Rosalina M.L. van Spaendonk,Yiping Shen,Bai-Lin Wu,Tingting Yu,Yongguo Yu,Colby Chiang,James F. Gusella,Amelia M. Lindgren,Cynthia C. Morton,Ellen van Binsbergen,Saskia Bulk,Els van Rossem,Olivier Vanakker,Ruth Armstrong,Soo-Mi Park,Lynn Greenhalgh,Una Maye,Nicholas J. Neill,Kristin M. Abbott,Susan L. Sell,Roger L. Ladda,Darren Farber,Patricia I. Bader,Tom Cushing,Joanne M. Drautz,Laura Konczal,Patricia Nash,Emily de los Reyes,Melissa T. Carter,Elizabeth Hopkins,Christian R. Marshall,Lucy R. Osborne,Karen W. Gripp,Devon Lamb Thrush,Sayaka Hashimoto,Julie M. Gastier‐Foster,Caroline Astbury,Bauke Ylstra,Hanne Meijers‐Heijboer,Daniëlle Posthuma,Björn Menten,Geert Mortier,Stephen W. Scherer,Evan E. Eichler,Santhosh Girirajan,Nicholas Katsanis,Alexander J. Groffen,Erik A. Sistermans |
| Citations | 194 |
| DOI | 10.1016/j.ajhg.2012.12.011 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | https://pmc.ncbi.nlm.nih.gov/articles/PMC3567268/pdf/main.pdf |
| OpenAlex ID | https://openalex.org/W2149914468 |
| PMID | 23332918 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Tingting Yu](https://scholariq.org/researchers/tingting-yu/)

## Paper primary topic

- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

## Paper topics

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.