# Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/rare-chromosome-abnormalities-prevalence-and-prenatal-diagnosis-rates-from/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Diana Wellesley,Helen Dolk,Patricia A. Boyd,Ruth Greenlees,Martin Haeusler,Vera Nelen,Ester Garne,Babak Khoshnood,Bérénice Doray,Anke Rißmann,Carmel Mullaney,Elisa Calzolari,Marian K. Bakker,Joaquín Salvador,Marie‐Claude Addor,Elizabeth S. Draper,Judith Rankin,David Tucker |
| Citations | 211 |
| DOI | 10.1038/ejhg.2011.246 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/ejhg2011246.pdf |
| OpenAlex ID | https://openalex.org/W2132469628 |
| PMID | 22234154 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Vera Nelen](https://scholariq.org/researchers/vera-nelen/)
- [Babak Khoshnood](https://scholariq.org/researchers/babak-khoshnood/)

## Paper journal

- [European Journal of Human Genetics](https://scholariq.org/journals/european-journal-of-human-genetics/)

## Paper primary topic

- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)

## Paper topics

- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)
- [Congenital Anomalies and Fetal Surgery](https://scholariq.org/topics/congenital-anomalies-and-fetal-surgery/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

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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.