# Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/genetic-heterogeneity-in-cornelia-de-lange-syndrome-cdls-and-cdls-like/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Morad Ansari,Gemma Poke,Quentin R. V. Ferry,Kathleen A. Williamson,Roland Christopher Lochore Aldridge,Alison Meynert,Hemant Bengani,Cheng Yee Chan,Hülya Kayserili,Şahin Avcı,Raoul C. M. Hennekam,Anne Katrin Lampe,E. Redeker,Tessa Homfray,Alison Ross,Marie Falkenberg Smeland,Sahar Mansour,Michael Parker,Jacqueline Cook,Miranda Splitt,Richard B. Fisher,Alan Fryer,Alex Magee,Andrew O.M. Wilkie,Angela Barnicoat,Angela F. Brady,Nicola Cooper,Catherine Mercer,Charu Deshpande,Christopher Bennett,Daniela T. Pilz,Deborah Ruddy,Deirdre Cilliers,Diana Johnson,Dragana Josifova,Elisabeth Rosser,Elizabeth M. Thompson,Emma Wakeling,Esther Kinning,Fiona Stewart,Frances Flinter,Katta M. Girisha,Helen Cox,Helen V. Firth,Helen Kingston,Jamie S Wee,Jane A. Hurst,Jill Clayton‐Smith,John Tolmie,Julie Vogt,Katrina Tatton‐Brown,Kate Chandler,Katrina Prescott,Louise C. Wilson,Mahdiyeh Behnam,Meriel McEntagart,Rosemarie Davidson,Sally Ann Lynch,Sanjay M. Sisodiya,Sarju Mehta,Shane McKee,Shehla Mohammed,Simon Holden,Soo-Mi Park,Susan Holder,Victoria Harrison,Vivienne McConnell,Wayne Lam,Andrew Green,Dian Donnai,Maria Bitner‐Glindzicz,Deirdre E. Donnelly,Christoffer Nellåker,Martin S. Taylor,David Fitzpatrick |
| Citations | 172 |
| DOI | 10.1136/jmedgenet-2014-102573 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://jmg.bmj.com/content/jmedgenet/51/10/659.full.pdf |
| OpenAlex ID | https://openalex.org/W2114654904 |
| PMID | 25125236 |
| Type | article |
| Year | 2014 |

## Paper authors

- [Alison Meynert](https://scholariq.org/researchers/alison-meynert/)

## Paper primary topic

- [Genomics and Chromatin Dynamics](https://scholariq.org/topics/genomics-and-chromatin-dynamics/)

## Paper topics

- [Genomics and Chromatin Dynamics](https://scholariq.org/topics/genomics-and-chromatin-dynamics/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Nuclear Structure and Function](https://scholariq.org/topics/nuclear-structure-and-function/)

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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.