Publications by authors named "Rani Sachdev"

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Connect, pause and reflect: Multidisciplinary clinicians' shared challenges and sustaining strategies caring for children with Severe Neurological Impairment.
Suzanne M Nevin, Fleur A Le Marne, Lauren Kelada, Claire E Wakefield, Erin Beavis, Rani Sachdev

Eur J Paediatr Neurol· November 2025

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Navigating an Uninformative Genomic Test Result: A Practical Guide.
Laura St Clair, Claire Wong, Christopher Elliot, Kristi J Jones, Margit Shah, Rani Sachdev

J Paediatr Child Health· March 2025

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Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
Pleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, Denisa Weis, Michael A Levy, Rani Sachdev

Genet Med· January 2025

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Psychosocial experiences of clinicians providing care for children with severe neurological impairment.
Suzanne M Nevin, Fleur A Le Marne, Erin Beavis, Rebecca Macintosh, Elizabeth E Palmer, Rani Sachdev

Dev Med Child Neurol· December 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Rani Sachdev

Nature· August 2024

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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Rani Sachdev

Eur J Hum Genet· May 2024

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variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Rani Sachdev

medRxiv· April 2024

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Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.
Emily A Innes, Fleur Annette Le Marne, Rebecca Macintosh, Suzanne M Nevin, Nancy E Briggs, Rani K Sachdev

Seizure· February 2024

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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Daniz Kooshavar, David J Amor, Kirsten Boggs, Naomi Baker, Christopher Barnett, Rani Sachdev

Brain Commun· February 2024

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"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.
Eden G Robertson, Natalie J Roberts, Fleur Le Marne, Erin Beavis, Rebecca Macintosh, Rani Sachdev

Eur J Paediatr Neurol· November 2023

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Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report.
Arthavan Selvanathan, Rebecca Macintosh, Alexandra Johnson, Vanessa Sarkozy, Kristen Neville, Rani Sachdev

Epileptic Disord· October 2023

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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Rani Sachdev

Am J Med Genet A· July 2023

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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M R Taylor, Rani Sachdev

Am J Hum Genet· March 2023

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Rani Sachdev

Mol Psychiatry· February 2023

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Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme.
Fleur A Le Marne, Nancy Briggs, Katie Frith, Didu Kariyawasam, Hugh J McCarthy, Rani Sachdev

J Paediatr Child Health· February 2023

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Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABA receptor.
Alibek Kuanyshbek, Meng Wang, Åsa Andersson, Marie Tuifua, Elizabeth E Palmer, Rani K Sachdev

Neuropharmacology· December 2022

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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Lisa J Ewans, Andre E Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Rani Sachdev

Eur J Hum Genet· October 2022

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope.
Ann Me Bye, Fleur A Le Marne, Erin Beavis, Rebecca Macintosh, Suzanne M Nevin, Rani Sachdev

J Paediatr Child Health· October 2022

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty.
Elizabeth E Palmer, Rani Sachdev, Erin Beavis, Rebecca Macintosh, Fleur A Le Marne

J Paediatr Child Health· October 2022

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty.
Suzanne M Nevin, Erin Beavis, Rebecca Macintosh, Elizabeth E Palmer, Rani Sachdev

J Paediatr Child Health· October 2022

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Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol.
Eden G Robertson, Lauren Kelada, Stephanie Best, I Goranitis, Natalie Grainger, Rani Sachdev

BMJ Open· October 2022

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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shino Shimada, Bobby G Ng, Amy L White, Kim K Nickander, Coleman Turgeon, Rani Sachdev

J Med Genet· July 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Rani Sachdev

Am J Hum Genet· April 2022

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Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy.
Suzanne M Nevin, Claire E Wakefield, Fleur Le Marne, Erin Beavis, Rebecca Macintosh, Rani Sachdev

Eur J Paediatr Neurol· March 2022

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Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
Chiara Migliore, Anna Vendramin, Shane McKee, Paolo Prontera, Francesca Faravelli, Rani Sachdev

Genes (Basel)· January 2022

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