167 results on '"Brison, Nathalie"'
Search Results
2. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
3. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
4. Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
5. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
6. Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies
7. Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
8. A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)
9. Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
10. Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
11. What helps define outcomes in persistent uninterpretable non‐invasive prenatal testing: Maternal factors, fetal fraction or quality scores?
12. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
13. Fetal sex determination in twin pregnancies using non-invasive prenatal testing
14. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
15. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
16. Maternal liver transplant: Another cause of discordant fetal sex determination using cell‐free DNA
17. Limb skeletal malformations – What the HOX is going on?
18. Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets
19. Synpolydactyly and Mutations in the Hoxd13 Gene
20. Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing
21. Association of CDH11 with non-syndromic ASD
22. Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?
23. Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets.
24. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
25. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
26. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
27. Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example
28. An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning†
29. A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).
30. A Placental Trisomy 2 Detected by NIPT Evolved in a Fetal Small Supernumerary Marker Chromosome (sSMC).
31. Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations
32. Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study
33. A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype
34. Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
35. The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium
36. Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
37. The BElgian PREnatal MicroArray (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
38. HIGH RATES OF NEURODEVELOPMENTAL RISK CNVs IN PATIENTS WITH INTELLECTUAL DISABILITIES AND CO-MORBID PSYCHIATRIC DISORDERS
39. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
40. Response to a comment on “Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing”
41. Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios
42. NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies
43. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
44. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
45. Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing
46. Accuracy and Clinical Value of Maternal Incidental Findings During Noninvasive Prenatal Testing for Fetal Aneuploidies
47. Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population
48. SA63 - HIGH RATES OF NEURODEVELOPMENTAL RISK CNVs IN PATIENTS WITH INTELLECTUAL DISABILITIES AND CO-MORBID PSYCHIATRIC DISORDERS
49. Low-pass Sequencing of Plasma Cell DNA and of ccfDNA for the Detection of Copy Number Aberrations and Early Response Monitoring in Multiple Myeloma
50. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
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