# Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/characterization-of-potocki-lupski-syndrome-dup-17-p11-2p11-2-and-delineation-of/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Lorraine Potocki,Weimin Bi,Diane Treadwell‐Deering,Claudia M.B. Carvalho,Anna Eifert,Ellen M. Friedman,Daniel G. Glaze,Kevin R. Krull,Jennifer A. Lee,Richard A. Lewis,Roberto Mendoza‐Londono,Patricia Robbins‐Furman,Chad A. Shaw,Xin Shi,George Weissenberger,Marjorie Withers,Svetlana A. Yatsenko,Elaine H. Zackai,Paweł Stankiewicz,James R. Lupski |
| Citations | 431 |
| DOI | 10.1086/512864 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OpenAlex ID | https://openalex.org/W1979250362 |
| PMID | 17357070 |
| Type | article |
| Year | 2007 |

## Paper authors

- [Daniel G. Glaze](https://scholariq.org/researchers/daniel-g-glaze/)

## Paper primary topic

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

## Paper topics

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Congenital Ear and Nasal Anomalies](https://scholariq.org/topics/congenital-ear-and-nasal-anomalies/)

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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.