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Raman Kumar

6PUBLICATIONS

36CO-AUTHORS

NeonatologyMajor global burdens of diseaseNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)

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Publications (6)

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|Mar 23, 2026

Novel <i>PCDH12</i> 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

Frequent Collaborators

6 joint publications

Jozef Gecz

4 joint publications

Clare van Eyk

3 joint publications

Rudrarup Bhattacharjee

2 joint publications

Mark A Corbett

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