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Practical Neurology|July 19, 2023
Genomic testing in neurologyVani Jain, Rachel Irving, Angharad Williams
Radiology Case Reports|June 28, 2021
A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (<i>NPR2</i>) variantsOliver Murch, Vani Jain, Amaka C Offiah
Clinical Kidney Journal|April 9, 2015
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation familyVani Jain, John Feehally, Gabriela Jones, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 29, 2013
Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutationMeena Balasubramanian, Vani Jain, Rhona C Glover, et al.
Early Intervention in Psychiatry|March 10, 2026
From Movements to Momentum: A Qualitative Exploration of What Global Mental Health Movements Teach us About Building Collaboration for Early Intervention in Bipolar DisorderMelissa Hasty, Craig Macneil, Olivia Bruce, et al.
Bipolar Disorders|February 17, 2026
Understanding the Current State of Play of Early Intervention for Bipolar Disorder: Qualitative Analysis of Consultations With International StakeholdersSue M Cotton, Vani Jain, Aswin Ratheesh, et al.
European Journal of Human Genetics : EJHG|October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literatureOliver Murch, Vani Jain, Andreas Benneche, et al.
Journal of Medical Genetics|May 8, 2021
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluationLauren M Cairns, Julia Rankin, Asma Hamad, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
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