Author

Rajesh Madhu

Observed names: Madhu, R, R Madhu

Institutions: Alder Hey Children's NHS Foundation Trust, Alder Hey Children's Hospital

Observed institutions: Llanfrechfa Grange Hospital, Wellcome Sanger Institute, University of Manchester, Alder Hey Children's NHS Foundation Trust, Alder Hey Children's Hospital

OpenAlex ID: A5086050571

Benign hereditary chorea related to NKX 2.1: expansion of the genotypic and phenotypic spectrum

2013 · Kathryn J Peall, Daniel Lumsden, et al. · Developmental Medicine & Child Neurology · 55

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

2024 · Alistair T. Pagnamenta, Jing Yu, et al. · The American Journal of Human Genetics · 31

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

2020 · Rajesh Madhu, Glenda M. Beaman, et al. · European Journal of Medical Genetics · 7

NKX2.1 case series: Novel mutations and additional clinical characteristics

2013 · Peall, KJ, Lumsden, D, et al. · UCL Discovery (University College London) · 1

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

2026 · Molly Godfrey, Michael A. Levy, et al. · European Journal of Human Genetics

314 Communication With Parents and Post-Operative Clinical Review by Operating Team in Paediatric Trauma

2024 · A Nelson, P M Suibhne, et al. · British journal of surgery

2014 · Stefan Spinty, Rajesh Madhu · Neuromuscular Disorders

A survey of parent experience in a specialist paediatric epilepsy outpatient clinic

2012 · R Madhu, A McTague, et al. · Archives of Disease in Childhood

Works count: 9

Citation count: 94

H-index: 3

I10-index: 2