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References from De novo mutations in folate-related genes associated with common developmental disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study
10.1016/s0140-6736(13)61132-0 · 2013 · External reference
Epilepsy in school children with intellectual impairments in Sheffield: the size and nature of the problem and the implications for service provision
1989 · External reference
10.1161/cir.0b013e318265ee8a
10.1161/cir.0b013e318265ee8a · External reference
10.1016/j.biochi.2016.02.012
10.1016/j.biochi.2016.02.012 · External reference
Folic acid deficiency and cancer: mechanisms of DNA instability
10.1258/0007142991902646 · 1999 · External reference
10.1016/s0955-2863(03)00115-3
10.1016/s0955-2863(03)00115-3 · External reference
10.3945/ajcn.110.004416
10.3945/ajcn.110.004416 · External reference
Periconceptional folic acid and risk of autism spectrum disorders
10.1001/jama.2013.198 · 2013 · External reference
Association of maternal use of folic acid and multivitamin supplements in the periods before and during pregnancy with the risk of autism spectrum disorder in offspring
10.1001/jamapsychiatry.2017.4050 · 2018 · External reference
Folate deficiency and folic acid supplementation: the prevention of neural-tube defects and congenital heart defects
10.3390/nu5114760 · 2013 · External reference
Effect of Folic Acid Food Fortification in Canada on Congenital Heart Disease Subtypes
10.1161/circulationaha.116.022126 · 2016 · External reference
Cerebral folate receptor autoantibodies in autism spectrum disorder
10.1038/mp.2011.175 · 2013 · External reference
Protective effect of periconceptional folic acid supplements on the risk of congenital heart defects: a registry-based case-control study in the northern Netherlands
10.1093/eurheartj/ehp479 · 2010 · External reference
Folate deficiency in rat pups during weaning causes learning and memory deficits
10.1017/s0007114514002116 · 2014 · External reference
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
10.1212/01.wnl.0000154641.08211.b7 · 2005 · External reference
The environment and disease: association or causation?
1965 · External reference
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
10.1016/j.ajhg.2009.08.005 · 2009 · External reference
10.1136/jmedgenet-2020-106987
10.1136/jmedgenet-2020-106987 · External reference
Three genetic polymorphisms of homocysteine-metabolizing enzymes and risk of coronary heart disease: a meta-analysis based on 23 case-control studies
10.1089/dna.2011.1281 · 2012 · External reference
MTHFR C677T polymorphism and risk of congenital heart defects: evidence from 29 case-control and TDT studies
10.1371/journal.pone.0058041 · 2013 · External reference
Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders
10.1097/ypg.0000000000000152 · 2016 · External reference
The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects
10.3389/fgene.2015.00223 · 2015 · External reference
10.1038/nature13908
10.1038/nature13908 · External reference
10.1038/nature21062
10.1038/nature21062 · External reference
10.1038/ng.3970
10.1038/ng.3970 · External reference
10.1038/s41588-018-0143-7
10.1038/s41588-018-0143-7 · External reference
10.1038/nn.4352
10.1038/nn.4352 · External reference
10.1016/j.ajhg.2017.09.008
10.1016/j.ajhg.2017.09.008 · External reference
10.1038/nrg3999
10.1038/nrg3999 · External reference
1-CMDb: A Curated Database of Genomic Variations of the One-Carbon Metabolism Pathway
10.1159/000475805 · 2017 · External reference
10.1093/nar/gky868
10.1093/nar/gky868 · External reference
10.1093/nar/gkq603
10.1093/nar/gkq603 · External reference
10.1038/mp.2015.40
10.1038/mp.2015.40 · External reference
10.1038/mp.2017.140
10.1038/mp.2017.140 · External reference
10.1093/nar/gkz923
10.1093/nar/gkz923 · External reference
10.1093/nar/gky678
10.1093/nar/gky678 · External reference
10.1038/ng.3050
10.1038/ng.3050 · External reference
10.1038/nature12929
10.1038/nature12929 · External reference
10.1371/journal.pgen.1003671
10.1371/journal.pgen.1003671 · External reference
10.1016/j.celrep.2017.12.074
10.1016/j.celrep.2017.12.074 · External reference
Genic intolerance to functional variation and the interpretation of personal genomes
10.1371/annotation/32c8d343-9e1d-46c6-bfd4-b0cd3fb7a97e · 2013 · External reference
10.1038/s41588-018-0288-4
10.1038/s41588-018-0288-4 · External reference
Metascape provides a biologist-oriented resource for the analysis of systems-level datasets
2019 · External reference
10.1523/jneurosci.4488-13.2014
10.1523/jneurosci.4488-13.2014 · External reference
10.1093/nar/gkq130
10.1093/nar/gkq130 · External reference
10.1038/s41422-018-0053-3
10.1038/s41422-018-0053-3 · External reference
10.1016/j.cell.2011.06.013
10.1016/j.cell.2011.06.013 · External reference
10.1016/j.cell.2019.02.032
10.1016/j.cell.2019.02.032 · External reference
New insights into the generation and role of de novo mutations in health and disease
10.1186/s13059-016-1110-1 · 2016 · External reference
10.1056/nejmoa043160
10.1056/nejmoa043160 · External reference
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits
10.1055/s-2008-1065354 · 2007 · External reference
Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia
10.1385/nmm:6:2-3:117 · 2004 · External reference
In vitro DNA synthesis by megaloblastic bone marrow: effect of folates and cobalamins on thymidine incorporation and de novo thymidylate synthesis
10.1002/ajh.2830310103 · 1989 · External reference
10.1016/s1474-4422(15)00044-7
10.1016/s1474-4422(15)00044-7 · External reference
Loss-of-function de novo mutations play an important role in severe human neural tube defects
10.1136/jmedgenet-2015-103027 · 2015 · External reference
10.1038/sj.mp.4002068
10.1038/sj.mp.4002068 · External reference
Cloning, expression and chromosome locations of the human DNMT3 gene family
10.1016/s0378-1119(99)00252-8 · 1999 · External reference
10.1016/s0092-8674(00)81656-6
10.1016/s0092-8674(00)81656-6 · External reference
10.1038/ng.2917
10.1038/ng.2917 · External reference
Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects
2001 · External reference
10.1016/s0378-1119(02)00392-x
10.1016/s0378-1119(02)00392-x · External reference
10.1242/dev.02302
10.1242/dev.02302 · External reference
10.1128/mcb.13.12.7612-7624.1993
10.1128/mcb.13.12.7612-7624.1993 · External reference
Transcriptional repression by YY1, a human GLI-Kruppel-related protein, and relief of repression by adenovirus E1A protein
10.1016/0092-8674(91)90189-6 · 1991 · External reference
Functional elements in the minimal promoter of the human proton-coupled folate transporter
10.1016/j.bbrc.2009.07.116 · 2009 · External reference
Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology
10.3389/fnins.2015.00477 · 2015 · External reference
10.1111/j.1469-7610.2010.02307.x
10.1111/j.1469-7610.2010.02307.x · External reference
10.1038/nature10110
10.1038/nature10110 · External reference
10.1016/j.cell.2019.12.036
10.1016/j.cell.2019.12.036 · External reference
10.1038/s41586-019-1917-5
10.1038/s41586-019-1917-5 · External reference
10.1016/j.biopsych.2013.08.013
10.1016/j.biopsych.2013.08.013 · External reference
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
10.1136/jmedgenet-2015-103637 · 2016 · External reference
10.1016/j.celrep.2017.03.052
10.1016/j.celrep.2017.03.052 · External reference
10.1016/j.celrep.2017.02.007
10.1016/j.celrep.2017.02.007 · External reference