Raman Kumar
6PUBLICATIONS
36CO-AUTHORS
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Publications (6)
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|Mar 23, 2026
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.Jennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar
|Mar 07, 2024
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.Rebekah de Nys, Alison Gardner, Clare van Eyk
|Feb 08, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett
|Jan 27, 2024
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.Rebekah de Nys, Clare L van Eyk, Tarin Ritchie
|Aug 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous Disorder.Thuong T Ha, Rosemary Burgess, Morgan Newman
|Jun 01, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.Raman Kumar, Alison Gardner, Claire C Homan
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Frequent Collaborators
6 joint publications
Jozef Gecz
4 joint publications
Clare van Eyk
3 joint publications
Rudrarup Bhattacharjee
2 joint publications
Mark A Corbett
2 joint publications
Tarin Ritchie
1 joint publications
Tracy Dudding-Byth
1 joint publications
Elizabeth E Palmer
1 joint publications
Simone A Mandelstam
1 joint publications
Atma M Ivancevic
1 joint publications
Michael Lardelli
