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2. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

3. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

4. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

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

6. Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

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

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

9. DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

10. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

11. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

12. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

13. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

14. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

15. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

16. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

17. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

18. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

19. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

21. PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

22. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

23. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

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

26. De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

27. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

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

29. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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

34. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

35. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

37. Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

38. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

39. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

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

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

42. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

43. Systematic reanalysis of copy number losses of uncertain clinical significance.

44. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

45. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

46. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

48. Heterozygous loss-of-functionSMC3variants are associated with variable and incompletely penetrant growth and developmental features

49. Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

50. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

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