Rani Sachdev

UNSW Sydney — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index2.2kcitations71works13.32yr avg
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Research Topics

Genomics and Rare Diseases(23), Genetics and Neurodevelopmental Disorders(20), Genomic variations and chromosomal abnormalities(11), RNA modifications and cancer(9), Epilepsy research and treatment(8)

Publications69 total

Connect, pause and reflect: Multidisciplinary clinicians’ shared challenges and sustaining strategies caring for children with severe neurological impairment
European Journal of Paediatric Neurology·2025
Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathy
2025· 3 citedOpen Access
Navigating an Uninformative Genomic Test Result: A Practical Guide
Journal of Paediatrics and Child Health·2025Open Access
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
Genetics in Medicine·2024· 4 citedOpen Access
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature·2024· 94 citedOpen Access
Psychosocial experiences of clinicians providing care for children with severe neurological impairment
Developmental Medicine & Child Neurology·2024· 4 citedOpen Access
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
2024· 10 citedOpen Access
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
European Journal of Human Genetics·2024· 3 citedOpen Access
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
Brain Communications·2024· 2 citedOpen Access
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset
Seizure·2023· 5 citedOpen Access
“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy
European Journal of Paediatric Neurology·2023· 8 citedOpen Access
Challenges in seizure control in <i>ATP6V0C</i> deficiency: A longitudinal case report
Epileptic Disorders·2023· 1 cited
<scp>Jansen‐de Vries</scp> syndrome: Expansion of the <scp><i>PPM1D</i></scp> clinical and phenotypic spectrum in 34 families
American Journal of Medical Genetics Part A·2023· 9 citedOpen Access
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
The American Journal of Human Genetics·2023· 5 citedOpen Access
Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme
Journal of Paediatrics and Child Health·2022· 3 citedOpen Access
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Molecular Psychiatry·2022· 32 citedOpen Access
Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABAA receptor
Neuropharmacology·2022· 3 citedOpen Access
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
American Journal of Neuroradiology·2022· 5 citedOpen Access
Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol
BMJ Open·2022· 7 citedOpen Access
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
Journal of Paediatrics and Child Health·2022· 16 cited
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Frequent Co-authors

Elizabeth E. Palmer(24), Edwin P. Kirk(19), Tony Roscioli(18), Rebecca Macintosh(18), Carolyn Shalhoub(15), David Mowat(13), Michael F. Buckley(10), Meredith Wilson(9), Mark J. Cowley(9), George Elakis(8), Tiong Yang Tan(8), Susan M. White(8), Marcel E. Dinger(8), Kerith‐Rae Dias(8), David J. Amor(7), Matthew Edwards(7), Alan Ma(7), Ying Zhu(7), Lisa Ewans(7), Tejaswi Kandula(7)