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2. Clinical genome interpretation: hidden variants and non-coding variation

3. Next-generation phenotyping in neurodevelopmental disorders: Applications of artificial intelligence in clinical genetics

4. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

5. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

6. The Genetics of Intellectual Disability.

7. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

8. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

10. Comprehensive de novo mutation discovery with HiFi long-read sequencing.

11. A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

12. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

13. Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

14. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

15. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

17. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

19. Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders

20. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

21. Phenotype based prediction of WES outcome using machine learning

22. FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

23. Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study

24. A de novo paradigm for male infertility

25. Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

27. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

28. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

29. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

31. De novo mutations in children born after medical assisted reproduction

32. DeNovoCNN: A deep learning approach to de novo variant calling in next generation sequencing data

33. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

34. Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

35. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

36. How to proceed after 'negative' exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

39. A de novo paradigm for male infertility

40. Characterization of the GABRB2-Associated Neurodevelopmental Disorders

41. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

42. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

43. Long-read technologies identify a hidden inverted duplication in a family with choroideremia

45. SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

46. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

47. Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

48. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

49. Human disease genes website series: An international, open and dynamic library for up-to-date clinical information

50. Genetic causes of male infertility

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