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1. Further delineation of the SCAF4-associated neurodevelopmental disorder

2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

3. Trio Exome Sequencing in VACTERL Association

4. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

6. Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

7. Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

9. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

10. Tubulopathien

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

12. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

13. Monogenic variants in dystonia: an exome-wide sequencing study

14. Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies

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

16. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

18. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

19. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

20. Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?

22. #4876 CLASSIFICATION OF BIOPSY FINDINGS IN INDIVIDUALS WITH NEPHROPATHIES USING MOLECULAR GENETIC TESTING AND PROTEOMICS

23. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

24. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

25. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

26. Implication ofFOXD2dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

27. Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

28. Lifetime Risk of Autosomal Recessive Kidney Diseases Calculated from Genetic Databases

29. Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age

30. High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

31. Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

32. Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

33. The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience

35. Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study

36. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

38. Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study

39. PRIMARY COQ10 DEFICIENCY: CLINICAL SPECTRUM AND GENOTYPE-PHENOTYPE CORRELATIONS

40. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

41. Erratum: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy (Brain (2020) 144 (411-419) DOI: 10.1093/brain/awaa410)

42. Congenital disorders of glycosylation with defective fucosylation

43. Biotinidase deficiency

44. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

45. Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial

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

47. Syndromic neurodevelopmental disorder associated with de novo variants inDDX23

48. Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

49. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

50. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

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