Anne Gregor

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance

The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.