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Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2384
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- Publication type:
- Article
Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
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- Publication type:
- Article
The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04844-9
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- Publication type:
- Article
Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-04182-2
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- Publication type:
- Article
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1124, doi. 10.1002/ajmg.a.62627
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- Publication type:
- Article
Exome sequencing identifies variants in infants with sacral agenesis.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 7, p. 215, doi. 10.1002/bdr2.1987
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- Publication type:
- Article
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
- Published in:
- PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0251286
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- Publication type:
- Article
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3028, doi. 10.1002/ajmg.a.62439
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- Publication type:
- Article
A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1307, doi. 10.1002/ajmg.a.62090
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- Publication type:
- Article
KAREN ROTHENBERG'S (NOT SO) SECRET ROLES AND CONTRIBUTIONS AT THE U.S. NATIONAL INSTITUTES OF HEALTH.
- Published in:
- Journal of Health Care Law & Policy, 2020, v. 22, p. 167
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- Publication type:
- Article
ComPaSS‐GWAS: A method to reduce type I error in genome‐wide association studies when replication data are not available.
- Published in:
- Genetic Epidemiology, 2019, v. 43, n. 1, p. 102, doi. 10.1002/gepi.22168
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- Publication type:
- Article
Providing Individual Research Results to Participants.
- Published in:
- 2018
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- Publication type:
- letter
Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0046-7
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- Publication type:
- Article
Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3627, doi. 10.1093/hmg/ddy267
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- Publication type:
- Article
Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.
- Published in:
- 2018
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- Publication type:
- journal article
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.
- Published in:
- 2018
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- Publication type:
- journal article
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4975, doi. 10.1093/hmg/ddx369
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- Publication type:
- Article
Copy number variants in Ebstein anomaly.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0188168
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- Publication type:
- Article
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 352, doi. 10.1002/ajmg.a.37868
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- Publication type:
- Article
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 1, p. 8, doi. 10.1002/bdra.23586
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- Publication type:
- Article
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165174
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- Publication type:
- Article
Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.
- Published in:
- European Journal of Clinical Investigation, 2016, v. 46, n. 5, p. 434, doi. 10.1111/eci.12617
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- Publication type:
- Article
Evaluation of proton-coupled folate transporter ( SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1007, doi. 10.1002/ajmg.a.37539
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- Publication type:
- Article
Rare copy number variants implicated in posterior urethral valves.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 622, doi. 10.1002/ajmg.a.37493
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- Publication type:
- Article
r2VIM: A new variable selection method for random forests in genome-wide association studies.
- Published in:
- BioData Mining, 2016, v. 9, p. 1, doi. 10.1186/s13040-016-0087-3
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- Publication type:
- Article
Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.
- Published in:
- 2015
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- Publication type:
- Journal Article
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0102-9
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- Publication type:
- Article
Anorectal atresia and Variants at Predicted Regulatory Sites in Candidate Genes.
- Published in:
- Annals of Human Genetics, 2013, v. 77, n. 1, p. 31, doi. 10.1111/j.1469-1809.2012.00734.x
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- Publication type:
- Article
Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2463, doi. 10.1002/ajmg.a.35565
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- Publication type:
- Article
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 8, p. 485, doi. 10.1038/jhg.2012.54
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- Publication type:
- Article
Differential Analysis of Ovarian and Endometrial Cancers Identifies a Methylator Phenotype.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032941
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- Publication type:
- Article
Disruption of the folate pathway in zebrafish causes developmental defects.
- Published in:
- BMC Developmental Biology, 2012, v. 12, n. 1, p. 12, doi. 10.1186/1471-213X-12-12
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- Publication type:
- Article
Bioinformatic and Genetic Association Analysis of MicroRNA Target Sites in One-Carbon Metabolism Genes.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021851
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- Publication type:
- Article
Participation in Genetic Testing Research Varies by Social Group.
- Published in:
- Public Health Genomics, 2011, v. 14, n. 2, p. 85, doi. 10.1159/000294277
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- Publication type:
- Article
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 14, doi. 10.1002/ajmg.a.33755
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- Publication type:
- Article
Consumers' Use of Web-Based Information and Their Decisions About Multiplex Genetic Susceptibility Testing.
- Published in:
- Journal of Medical Internet Research, 2010, v. 12, n. 3, p. 16, doi. 10.2196/jmir.1587
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- Publication type:
- Article
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
- Published in:
- Human Mutation, 2009, v. 30, n. 12, p. 1650, doi. 10.1002/humu.21109
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- Publication type:
- Article
Analysis of the MTHFD1 promoter and risk of neural tube defects.
- Published in:
- Human Genetics, 2009, v. 125, n. 3, p. 247, doi. 10.1007/s00439-008-0616-3
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- Publication type:
- Article
A FUNCTIONAL PROMOTER POLYMORPHISM WITHIN MTHFD1 MAY INCREASE NEURAL TUBE DEFECT RISK IN THE IRISH POPULATION THROUGH AN INTERACTION WITH THE R653Q POLYMORPHISM.
- Published in:
- Ulster Medical Journal, 2009, v. 78, n. 1, p. 67
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- Publication type:
- Article
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. 1273, doi. 10.1002/humu.20889
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- Publication type:
- Article
Putting science over supposition in the arena of personalized genomics.
- Published in:
- Nature Genetics, 2008, v. 40, n. 8, p. 939, doi. 10.1038/ng0808-939
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- Publication type:
- Article
Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child development.
- Published in:
- 2008
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- Publication type:
- journal article
Effects of folate and vitamin B<sub>12</sub> deficiencies during pregnancy on fetal, infant, and child development.
- Published in:
- Food & Nutrition Bulletin, 2008, v. 29, p. S101, doi. 10.1177/15648265080292S114
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- Publication type:
- Article
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 768, doi. 10.1038/sj.ejhg.5201603
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- Publication type:
- Article
A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss.
- Published in:
- Molecular Human Reproduction, 2005, v. 11, n. 7, p. 477, doi. 10.1093/molehr/gah204
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- Publication type:
- Article
Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.
- Published in:
- Human Genetics, 2003, v. 113, n. 5, p. 452, doi. 10.1007/s00439-003-0999-0
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- Publication type:
- Article
Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 4, p. 190, doi. 10.1007/s10038-003-0008-4
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- Publication type:
- Article
CHEKs and balances: accounting for breast cancer.
- Published in:
- Nature Genetics, 2002, v. 31, n. 1, p. 3, doi. 10.1038/ng0502-3
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- Publication type:
- Article
BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage.
- Published in:
- Nature Genetics, 2002, v. 30, n. 3, p. 285, doi. 10.1038/ng837
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- Publication type:
- Article
The Breast Cancer Information Core: Database design, structure, and scope.
- Published in:
- Human Mutation, 2000, v. 16, n. 2, p. 123, doi. 10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y
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- Publication type:
- Article