630 results on '"Vermeesch, Joris R."'
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2. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
3. Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia
4. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
5. Contributors
6. Noninvasive prenatal testing/screening by circulating cell-free DNA
7. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
8. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
9. Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition
10. The 22q11 low copy repeats are characterized by unprecedented size and structural variability
11. Erratum: Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition.
12. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
13. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
14. Improved reference genome for the domestic horse increases assembly contiguity and composition.
15. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
16. Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome
17. Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
18. A benchmark of structural variation detection by long reads through a realistic simulated model
19. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
20. Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age
21. Ultrasensitive Microhaplotype-Based Detection of Minor Alleles in Cervical Samples of Pregnant Women Identifies Sperm Rather Than Fetal DNA
22. Low copy repeats in the genome: from neglected to respected
23. Skeletal Muscle Repair by Adult Human Mesenchymal Stem Cells from Synovial Membrane
24. A multi-omics genome-and-transcriptome single-cell atlas of human preimplantation embryogenesis reveals the cellular and molecular impact of chromosome instability
25. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
26. Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
27. Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
28. Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study
29. FANCA knockout in human embryonic stem cells causes a severe growth disadvantage
30. Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
31. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
32. Array CGH: Opening New Horizons
33. Clinical characteristics of patients with low functional IL-6 production upon TLR/IL-1R stimulation
34. Maternal liver transplant: Another cause of discordant fetal sex determination using cell‐free DNA
35. Mosaic Copy Number Variation in Human Neurons
36. Array CGH
37. Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
38. Detecting mosaicism in trophectoderm biopsies
39. Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing
40. Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping
41. Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing
42. A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains
43. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay
44. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial
45. Chromosomal phenotypes and submicroscopic abnormalities
46. 22q11.2 Low Copy Repeats Expanded in the Human Lineage
47. Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
48. Additional file 1 of A benchmark of structural variation detection by long reads through a realistic simulated model
49. Additional file 3 of A benchmark of structural variation detection by long reads through a realistic simulated model
50. Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances
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