Dissection of contiguous gene effects for deletions around ERF on chromosome 19-Reference-Cited by-同舟云学术

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

Published:2021-05-16 Issue:7 Volume:42 Page:811-817
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Calpena Eduardo¹^ORCID,McGowan Simon J.²,Blanco Kelly Fiona³,Boudry‐Labis Elise⁴,Dieux‐Coeslier Anne⁵,Harrison Rachel⁶,Johnson Diana⁷,Lachlan Katherine⁸⁹,Morton Jenny E. V.¹⁰,Stewart Helen³,Vasudevan Pradeep¹¹,Twigg Stephen R. F.¹,Wilkie Andrew O. M.¹¹²^ORCID,

Affiliation:

1. Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine University of Oxford Oxford UK

2. Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine University of Oxford Oxford UK

3. Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre Oxford University Hospitals NHS Foundation Trust Oxford UK

4. UF Cytogénomique des Déficiences Intellectuelles et Anomalies du Développement, Institut de Génétique Médicale Hôpital Jeanne de Flandre CHRU Lille France

5. CHU Lille Clinique de Génétique "Guy Fontaine" Lille France

6. Nottingham Regional Genetics Service, City Hospital Campus Nottingham University Hospitals NHS Trust Nottingham UK

7. Sheffield Regional Genetics Services Sheffield Children's NHS Trust Sheffield UK

8. Wessex Clinical Genetics Service University Hospital Southampton, Princess Anne Hospital Southampton UK

9. Human Development and Health, Faculty of Medicine University of Southampton Southampton UK

10. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women's and Children's Hospitals NHS Foundation Trust Birmingham UK

11. Leicestershire Genetics Centre University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary NHS Trust Leicester UK

12. Craniofacial Unit Oxford University Hospitals NHS Trust, John Radcliffe Hospital Oxford UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24213

Reference29 articles.

1. Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

2. Heterozygous mutations inERFcause syndromic craniosynostosis with multiple suture involvement

3. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

4. Ribosomal protein gene deletions in Diamond-Blackfan anemia

5. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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1. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research;Human Mutation;2022-02-21

2. Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis;Genetics in Medicine;2021-12