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1. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

3. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

4. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

5. TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

6. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

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

8. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

9. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

10. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

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. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

15. A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes

16. CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

17. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

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

19. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

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

21. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

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

23. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

24. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

25. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

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

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

28. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

29. Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

30. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

32. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

33. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

34. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

35. Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

36. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

37. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

38. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

39. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

40. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

41. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

42. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

43. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

44. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

45. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

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

47. DLG4-related synaptopathy: a new rare brain disorder

48. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

49. De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

50. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

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