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Molecular signatures in Mendelian neurodevelopment: a focus on ubiquitination driven DNA methylation aberrations.
- Published in:
- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1446686
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- Publication type:
- Article
Distinct saliva DNA methylation profiles in relation to treatment outcome in youth with posttraumatic stress disorder.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02892-1
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- Publication type:
- Article
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere.
- Published in:
- 2023
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- Publication type:
- Case Study
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
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- Publication type:
- Article
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 6, p. 595, doi. 10.1002/bdr2.2153
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- Publication type:
- Article
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6601, doi. 10.3390/ijms24076601
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- Publication type:
- Article
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
- Published in:
- PLoS ONE, 2022, v. 17, n. 11, p. 1, doi. 10.1371/journal.pone.0268149
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- Publication type:
- Article
Novel Insights Into Rheumatoid Arthritis Through Characterization of Concordant Changes in DNA Methylation and Gene Expression in Synovial Biopsies of Patients With Differing Numbers of Swollen Joints.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.651475
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- Publication type:
- Article
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1952, doi. 10.1002/ajmg.a.61632
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- Publication type:
- Article
Hyperuricaemia and its association with 10-year risk of cardiovascular disease among migrant and non-migrant African populations: the RODAM study.
- Published in:
- 2020
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- Publication type:
- journal article
Epigenome-wide association study for perceived discrimination among sub-Saharan African migrants in Europe - the RODAM study.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61649-0
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- Publication type:
- Article
Comparing genome-scale DNA methylation and CNV marks between adult human cultured ITGA6+ testicular cells and seminomas to assess in vitro genomic stability.
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230253
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- Publication type:
- Article
Epigenome-wide association study in whole blood on type 2 diabetes among sub-Saharan African individuals: findings from the RODAM study.
- Published in:
- 2019
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- Publication type:
- journal article
A distinct epigenetic profile distinguishes stenotic from non-inflamed fibroblasts in the ileal mucosa of Crohn’s disease patients.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209656
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- Publication type:
- Article
Higher Polygenetic Predisposition for Asthma in Cow's Milk Allergic Children.
- Published in:
- Nutrients, 2018, v. 10, n. 11, p. 1582, doi. 10.3390/nu10111582
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- Publication type:
- Article
Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194938
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- Publication type:
- Article
Genetic Analyses in Small-for-Gestational-Age Newborns.
- Published in:
- 2018
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- Publication type:
- journal article
An epigenome-wide association study in whole blood of measures of adiposity among Ghanaians: the RODAM study.
- Published in:
- Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0403-x
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- Publication type:
- Article
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2541, doi. 10.1093/hmg/ddx152
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- Publication type:
- Article
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
- Published in:
- European Journal of Heart Failure. Supplements, 2017, v. 19, n. 4, p. 512, doi. 10.1002/ejhf.673
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- Publication type:
- Article
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2248, doi. 10.1002/ajmg.a.37801
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- Publication type:
- Article
Peripheral blood methylation profiling of female Crohn's disease patients.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0230-5
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- Publication type:
- Article
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
- Published in:
- BMC Medical Genomics, 2016, p. 1, doi. 10.1186/s12920-016-0167-8
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- Publication type:
- Article
The idiopathic preterm delivery methylation profile in umbilical cord blood DNA.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1915-4
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- Publication type:
- Article
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 820, doi. 10.1038/ejhg.2011.33
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- Publication type:
- Article
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1625, doi. 10.1038/ejhg.2009.77
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- Publication type:
- Article
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1272, doi. 10.1038/ng.484
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- Publication type:
- Article
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
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- Publication type:
- Article
Clinical and Genetic Analysis of Long QT Syndrome in Children from Six Families in Saudi Arabia: Are They Different?
- Published in:
- Pediatric Cardiology, 2009, v. 30, n. 4, p. 490, doi. 10.1007/s00246-008-9377-y
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- Publication type:
- Article
Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 12, p. 1478, doi. 10.1093/hmg/ddm098
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- Publication type:
- Article
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 505, doi. 10.1038/sj.ejhg.5201776
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- Publication type:
- Article
New mutations in the NHS gene in Nance–Horan Syndrome families from the Netherlands.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 9, p. 986, doi. 10.1038/sj.ejhg.5201671
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- Publication type:
- Article
Chromosomal region 11p15 is associated with male factor subfertility*.
- Published in:
- Molecular Human Reproduction, 2003, v. 9, n. 10, p. 587, doi. 10.1093/molehr/gag081
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- Publication type:
- Article
A locus for hereditary capillary malformations mapped on chromosome 5q.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 343, doi. 10.1007/s00439-002-0700-z
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- Publication type:
- Article
Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.
- Published in:
- Human Genetics, 2000, v. 106, n. 6, p. 614, doi. 10.1007/s004390000308
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- Publication type:
- Article
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value.
- Published in:
- Human Mutation, 1997, v. 10, n. 5, p. 348, doi. 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B
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- Publication type:
- Article