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1. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

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

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

4. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

5. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

6. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

7. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

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