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2. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

4. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

5. Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

6. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

7. Stratified analyses refine association between TLR7 rare variants and severe COVID-19

9. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

10. “Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease

17. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

19. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

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

21. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

23. Human variation in population-wide gene expression data predicts gene perturbation phenotype

24. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

27. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD

28. A Case–Control Study Supports Genetic Contribution of the PON Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease.

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

31. Optical genome mapping enables accurate repeat expansion testing

32. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

34. Stratified analyses refine association between TLR7 rare variants and severe COVID-19

37. A framework for the clinical implementation of optical genome mapping in hematologic malignancies

39. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

40. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

41. Transcriptional and functional insights into the host immune response against the emerging fungal pathogen Candida auris

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

45. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

46. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

47. Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

48. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

49. Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

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