Lachlan A Jolly

3PUBLICATIONS
26CO-AUTHORS
NeonatologyDevelopmental genetics (incl. sex determination)
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Publications (3)

|Mar 23, 2026
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Jennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar

|Jun 03, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Duyen H Pham, Melissa R Pitman, Raman Kumar

|Dec 10, 2020
Missense variant contribution to USP9X-female syndrome.

Lachlan A Jolly, Euan Parnell, Alison E Gardner

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