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Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-77724-9
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- Publication type:
- Article
Allele-specific transcription factor binding in a cellular model of orofacial clefting.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05876-7
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- Publication type:
- Article
Allele-specific transcription factor binding in a cellular model of orofacial clefting.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05876-7
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- Publication type:
- Article
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1607, doi. 10.1002/ajmg.a.62643
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- Publication type:
- Article
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1021, doi. 10.1002/ajmg.a.61515
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- Publication type:
- Article
A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 670, doi. 10.1002/ajmg.a.36891
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- Publication type:
- Article
Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2545, doi. 10.1002/ajmg.a.36141
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- Publication type:
- Article
A phenotype map for 14q32.3 terminal deletions.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 695, doi. 10.1002/ajmg.a.35256
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- Publication type:
- Article
Author Correction: LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding.
- Published in:
- 2022
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- Publication type:
- Correction Notice
LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding.
- Published in:
- Nature Biotechnology, 2021, v. 39, n. 12, p. 1556, doi. 10.1038/s41587-021-00966-9
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- Publication type:
- Article
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
- Published in:
- Nature Genetics, 2012, v. 44, n. 9, p. 968, doi. 10.1038/ng.2360
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- Publication type:
- Article
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 24, doi. 10.1038/ng.506
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- Publication type:
- Article
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
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- Nature Genetics, 2009, v. 41, n. 4, p. 473, doi. 10.1038/ng.333
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- Publication type:
- Article
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
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- PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007501
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- Publication type:
- Article
Predicting the pathogenicity of missense variants using features derived from AlphaFold2.
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- Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad280
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- Publication type:
- Article
Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 4, p. 336, doi. 10.1002/bdr2.1144
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- Publication type:
- Article
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00220-w
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- Publication type:
- Article
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
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- European Journal of Oral Sciences, 2009, v. 117, n. 6, p. 766, doi. 10.1111/j.1600-0722.2009.00680.x
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- Publication type:
- Article
Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 822, doi. 10.1038/ejhg.2013.235
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- Publication type:
- Article
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort.
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- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 675, doi. 10.1038/ejhg.2013.199
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- Publication type:
- Article
Genetic determination of human facial morphology: links between cleft-lips and normal variation.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1192, doi. 10.1038/ejhg.2011.110
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- Publication type:
- Article
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1592, doi. 10.1038/ejhg.2009.90
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- Publication type:
- Article
Systematic assays and resources for the functional annotation of non-coding variants.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 4, p. 275, doi. 10.1515/medgen-2022-2161
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- Article
Functional genomics meets human genetics.
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- 2022
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- Publication type:
- Editorial
Combating the SARS-CoV-2 pandemic: How can the field of Human Genetics contribute?
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- Medizinische Genetik, 2020, p. 163, doi. 10.1515/medgen-2020-2027
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- Publication type:
- Article
Die Rolle seltener Varianten bei häufigen Krankheiten.
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- Medizinische Genetik, 2019, v. 31, n. 2, p. 212, doi. 10.1007/s11825-019-0246-2
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- Publication type:
- Article
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0402-0
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- Publication type:
- Article
Identification of loci of functional relevance to Barrett's esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with genetic association data.
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- PLoS ONE, 2019, v. 14, n. 12, p. N.PAG, doi. 10.1371/journal.pone.0227072
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- Publication type:
- Article
Properties of permutation-based gene tests and controlling type 1 error using a summary statistic based gene test.
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- BMC Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2156-14-108
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- Publication type:
- Article
Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated anorectal malformation.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 10, p. 478, doi. 10.1002/bdr2.2008
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- Publication type:
- Article
Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylation.
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- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01623-z
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- Publication type:
- Article
Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 570, doi. 10.1002/mgg3.320
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- Publication type:
- Article
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 4, p. 829, doi. 10.1093/hmg/ddx012
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- Publication type:
- Article
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.
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- European Journal of Oral Sciences, 2012, v. 120, n. 5, p. 373, doi. 10.1111/j.1600-0722.2012.00991.x
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- Publication type:
- Article
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients.
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- European Journal of Oral Sciences, 2010, v. 118, n. 3, p. 317, doi. 10.1111/j.1600-0722.2010.00741.x
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- Publication type:
- Article
TMPRSS2 isoform 1 downregulation by G-quadruplex stabilization induces SARS-CoV-2 replication arrest.
- Published in:
- BMC Biology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12915-023-01805-w
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- Publication type:
- Article
Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005024
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- Publication type:
- Article
Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
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- 2020
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- Publication type:
- journal article
Iron Deficiency Caused by Intestinal Iron Loss—Novel Candidate Genes for Severe Anemia.
- Published in:
- 2021
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- Publication type:
- Case Study
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 1023, doi. 10.3390/genes10121023
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- Publication type:
- Article
Exome sequencing in large, multiplex bipolar disorder families from Cuba.
- Published in:
- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205895
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- Publication type:
- Article
Genetic Predisposition and the Variable Course of Infectious Diseases.
- Published in:
- Deutsches Ärzteblatt International, 2022, v. 119, n. 8, p. 117, doi. 10.3238/arztebl.m2022.0105
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- Publication type:
- Article
Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample.
- Published in:
- Journal of Neural Transmission, 2008, v. 115, n. 11, p. 1587, doi. 10.1007/s00702-008-0124-6
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- Publication type:
- Article
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms.
- Published in:
- Genetic Epidemiology, 2020, v. 44, n. 8, p. 924, doi. 10.1002/gepi.22343
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- Publication type:
- Article
On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium.
- Published in:
- Genetic Epidemiology, 2011, v. 35, n. 8, p. 880, doi. 10.1002/gepi.20638
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- Publication type:
- Article
‘Location, Location, Location’: a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate.
- Published in:
- Bioinformatics, 2012, v. 28, n. 23, p. 3027, doi. 10.1093/bioinformatics/bts568
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- Publication type:
- Article
Genetics and Neuroscience in Dyslexia: Perspectives for Education and Remediation.
- Published in:
- Mind, Brain & Education, 2007, v. 1, n. 4, p. 162, doi. 10.1111/j.1751-228X.2007.00017.x
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- Publication type:
- Article
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.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005914
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- Publication type:
- Article