Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing-Reference-Cited by-同舟云学术

Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing

Published:2022-07-01 Issue:5 Volume:297 Page:1315-1327
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Dąbrowska Justyna^ORCID,Biedziak Barbara^ORCID,Szponar-Żurowska Anna^ORCID,Budner Margareta,Jagodziński Paweł P.^ORCID,Płoski Rafał^ORCID,Mostowska Adrianna^ORCID

Funder

European Social Fund and Wielkopolska Voivodeship

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00438-022-01919-w.pdf

Reference61 articles.

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3. Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M (2018) Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. J Med Genet 55:449–458. https://doi.org/10.1136/jmedgenet-2017-105110

4. Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I (2013) Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Hum Genet 132:771–781. https://doi.org/10.1007/s00439-013-1283-6

5. Beauchamp MC, Djedid A, Bareke E, Merkuri F, Aber R, Tam AS, Lines MA, Boycott MK, Stirling PC, Fish JL, Majewski J, Jerome-Majewska LA (2020) Mis-splicing of Mdm2 leads to increased P53-activity and craniofacial defects in a MFDM Eftud2 mutant mouse model. bioRxiv 2020.09.22.308205. This article is a preprint and has not been certified by peer review. https://doi.org/10.1101/2020.09.22.308205

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1. Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum;European Journal of Human Genetics;2023-11-06

2. Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum;2023-03-20

3. Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing;Journal of Clinical Medicine;2023-03-04

4. Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts;Journal of Genetics and Genomics;2023-03

5. Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing;Journal of Clinical Medicine;2022-10-15