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2. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

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

4. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

5. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

7. Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

8. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

9. ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

11. Germline 16p11.2 microdeletion predisposing to neuroblastoma: A Case report

12. Rare dosage abnormalities flanking the SHOX gene

15. Duplication of 10q24 locus: broadening the clinical and radiological spectrum

16. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

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

19. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

20. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

21. 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

22. What's new in guidance? Scientific Impact Paper summary.

24. The Phenotypic Continuum of ATP1A3-Related Disorders

25. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

26. Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

28. Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

29. Neuropsychiatric Risk in Children With Intellectual Disability of Genetic Origin: IMAGINE - The UK National Cohort Study

31. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

32. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

35. Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

37. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

38. Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

39. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

40. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

41. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

43. Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

44. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

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