Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses-Reference-Cited by-同舟云学术

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Published:2020-11-11 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Bukowska-Olech Ewelina,Materna-Kiryluk Anna,Walczak-Sztulpa Joanna,Popiel Delfina,Badura-Stronka Magdalena,Koczyk Grzegorz,Dawidziuk Adam,Jamsheer Aleksander

Funder

Narodowym Centrum Nauki

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference37 articles.

1. Extra phenotypic features in a girl with Miller syndrome.;Al Kaissi;Clin. Dysmorphol.,2011

2. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.;Bernier;Am. J. Hum. Genet.,2012

3. PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.;Bodea;Genome Biol.,2018

4. Mandibulofacial dysostosis with limb malformations (Nager’s acrofcial dysostosis).;Bowen;Birth Defects Orig. Artic. Ser.,1974

5. Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.;Bukowska-Olech;Sci. Rep.,2020

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly;BMC Medical Genomics;2024-09-06

2. Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts;Journal of Craniofacial Surgery;2024-05-27

3. Genotype-phenotype associations in microtia: a systematic review;Orphanet Journal of Rare Diseases;2024-04-09

4. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes;Frontiers in Pediatrics;2023-08-17

5. Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population;Molecular Genetics & Genomic Medicine;2023-04-30