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1. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

2. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

3. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

4. Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

6. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

7. Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye

10. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

11. Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

12. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

13. Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement

14. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

16. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

17. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

18. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

19. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

20. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

21. Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

23. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

24. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

25. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

26. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

27. PYCR1 Levels Track with Premature and Chronological Skin Aging

28. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

31. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

32. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

36. Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

40. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

41. Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

43. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

44. Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey

46. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

48. The genetic basis of DOORS syndrome: an exome-sequencing study

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