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1. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

2. Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

4. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

5. Quality of Life After Total Mesorectal Excision and Rectal Replacement: Comparing Side-to-End, Colon J-Pouch and Straight Colorectal Reconstruction in a Randomized, Phase III Trial (SAKK 40/04)

7. The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

8. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

12. Clinical Outcome After Rectal Replacement With Side-to-End, Colon-J-Pouch, or Straight Colorectal Anastomosis Following Total Mesorectal Excision: A Swiss Prospective, Randomized, Multicenter Trial (SAKK 40/04)

14. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

16. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

19. A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

21. Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

24. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2

26. Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

30. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant

40. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2

43. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

44. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

46. Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

47. Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

49. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

50. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

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