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2. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

4. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

5. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study

7. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

10. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

14. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

18. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

21. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

24. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

25. Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.

26. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

29. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

30. SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.

31. Autoantibodies against type I IFNs in patients with critical influenza pneumonia

32. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

33. Complete loss of the atrial natriuretic peptide‐converting enzyme Corin and CHAF‐LA syndrome: Implications to natriuretic peptide physiology and left atrium health.

34. Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.

35. Non‐immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.

36. A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

37. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.

38. A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.

42. Experts' views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease.

43. A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

44. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

45. Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations.

46. Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.

47. Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies.

48. Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping.

49. Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.

50. Expanded targeted preconception screening panel in Israel: findings and insights.

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