Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing
出版年份 2022 全文链接
标题
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing
作者
关键词
-
出版物
MOLECULAR GENETICS AND GENOMICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2022-07-02
DOI
10.1007/s00438-022-01919-w
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Orofacial clefts embryology, classification, epidemiology, and genetics
- (2021) Ghenwa Nasreddine et al. MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
- The important role of MDM2, RPL5, and TP53 in mycophenolic acid-induced cleft lip and palate
- (2021) Yangyang Lin et al. MEDICINE
- Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only
- (2021) Renato Assis Machado et al. Frontiers in Cell and Developmental Biology
- Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk
- (2020) SungKyoung Lee et al. DEVELOPMENT
- Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
- (2020) Madison R. Bishop et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetics and signaling mechanisms of orofacial clefts
- (2020) Kurt Reynolds et al. Birth Defects Research
- Hajdu–Cheney Syndrome: A Systematic Review of the Literature
- (2020) Jonathan Cortés-Martín et al. International Journal of Environmental Research and Public Health
- Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate
- (2019) Nicholas J. Marini et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The molecular anatomy of mammalian upper lip and primary palate fusion at single cell resolution
- (2019) Hong Li et al. DEVELOPMENT
- Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population
- (2019) Masayasu Shibano et al. CLEFT PALATE-CRANIOFACIAL JOURNAL
- Missing heritability of complex diseases: case solved?
- (2019) Emmanuelle Génin HUMAN GENETICS
- Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients
- (2019) Bénédicte Demeer et al. Genes
- Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
- (2018) Liza L. Cox et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate
- (2018) A. Mostowska et al. CLINICAL GENETICS
- Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate
- (2018) Agnieszka Gaczkowska et al. JOURNAL OF HUMAN GENETICS
- 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
- (2018) Mirta Basha et al. JOURNAL OF MEDICAL GENETICS
- High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
- (2018) Andrea Wilderman et al. Cell Reports
- The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts
- (2017) F. Thieme et al. JOURNAL OF DENTAL RESEARCH
- Involvement of Notch2 in all-trans retinoic acid-induced inhibition of mouse embryonic palate mesenchymal cell proliferation
- (2017) Yadong Zhang et al. Molecular Medicine Reports
- Pathogenicity of De Novo Rare Variants
- (2017) Arya Mani Circulation-Cardiovascular Genetics
- Whole exome association of rare deletions in multiplex oral cleft families
- (2016) Jack Fu et al. GENETIC EPIDEMIOLOGY
- Tooth agenesis and orofacial clefting: genetic brothers in arms?
- (2016) M. Phan et al. HUMAN GENETICS
- Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts: A Danish Population-Based Cohort Study
- (2016) Dorthe Almind Pedersen et al. PLoS One
- Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes
- (2016) Reuben J. Pengelly et al. Scientific Reports
- Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene
- (2016) Kerstin U. Ludwig et al. PLoS Genetics
- Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
- (2015) Frida Jonsson et al. HUMAN MUTATION
- Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting
- (2015) B.J. Howe et al. JOURNAL OF DENTAL RESEARCH
- Rare variant association studies: considerations, challenges and opportunities
- (2015) Paul L Auer et al. Genome Medicine
- The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development
- (2014) Ethan D. Sperry et al. DEVELOPMENTAL DYNAMICS
- Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts
- (2014) A. Bureau et al. GENETICS
- Genetics of cleft lip and cleft palate
- (2013) Elizabeth J. Leslie et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study
- (2013) T. H. Beaty et al. HUMAN GENETICS
- Rare and common variants: twenty arguments
- (2012) Greg Gibson NATURE REVIEWS GENETICS
- A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
- (2012) Fan Liu et al. PLoS Genetics
- Cleft lip and palate: understanding genetic and environmental influences
- (2011) Michael J. Dixon et al. NATURE REVIEWS GENETICS
- Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia
- (2010) Astanand Jugessur et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Identification of microdeletions in candidate genes for cleft lip and/or palate
- (2009) Min Shi et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Oral Manifestations in the Epidermolysis Bullosa Spectrum
- (2009) J. Timothy Wright DERMATOLOGIC CLINICS
- Cleft lip and palate
- (2009) Peter A Mossey et al. LANCET
- Spatial and Temporal Analysis of Gene Expression during Growth and Fusion of the Mouse Facial Prominences
- (2009) Weiguo Feng et al. PLoS One
- The role of Snu114p during pre-mRNA splicing: Figure 1
- (2008) Lily Novak Frazer et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts
- (2008) Alexandre R Vieira et al. GENETICS IN MEDICINE
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started