Rani Sachdev
Overview
Explore the profile of Rani Sachdev including associated specialties, affiliations and a list of published articles.
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46
Citations
552
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Recent Articles
1.
St Clair L, Wong C, Elliot C, Jones K, Shah M, Josephi-Taylor S, et al.
J Paediatr Child Health
. 2025 Feb;
61(3):344-353.
PMID: 39895028
Background: Although genomic testing is increasingly standard of care for diagnosing children and adults with genetic conditions, over 50% of genomic testing will return an uninformative result. Aim: To provide...
2.
Van der Sluijs P, Moutton S, Dingemans A, Weis D, Levy M, Boycott K, et al.
Genet Med
. 2024 Oct;
27(1):101283.
PMID: 39355979
Purpose: ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. Methods: We collected...
3.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
4.
Nevin S, Le Marne F, Beavis E, Macintosh R, Palmer E, Sachdev R, et al.
Dev Med Child Neurol
. 2024 Jun;
66(12):1622-1631.
PMID: 38837791
Aim: To investigate clinicians' psychosocial experiences navigating interdisciplinary care for children with severe neurological impairment (SNI), for example children with a developmental epileptic encephalopathy; secondarily, to identify preferences for future...
5.
Chen Y, Dawes R, Kim H, Stenton S, Walker S, Ljungdahl A, et al.
medRxiv
. 2024 Apr;
PMID: 38645094
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses...
6.
Kooshavar D, Amor D, Boggs K, Baker N, Barnett C, de Silva M, et al.
Brain Commun
. 2024 Mar;
6(2):fcae056.
PMID: 38444904
This study aimed to determine the diagnostic yield of singleton exome sequencing and subsequent research-based trio exome analysis in children with a spectrum of brain malformations seen commonly in clinical...
7.
Harms F, Rexach J, Efthymiou S, Aynekin B, Per H, Gulec A, et al.
Eur J Hum Genet
. 2024 Feb;
32(5):558-566.
PMID: 38374468
Biallelic loss-of-function variants in TBC1D2B have been reported in five subjects with cognitive impairment and seizures with or without gingival overgrowth. TBC1D2B belongs to the family of Tre2-Bub2-Cdc16 (TBC)-domain containing...
8.
Robertson E, Roberts N, Le Marne F, Beavis E, Macintosh R, Kelada L, et al.
Eur J Paediatr Neurol
. 2023 Oct;
47:94-104.
PMID: 37832466
Background: Caregivers of a child with a Developmental and Epileptic Encephalopathy (DEE) often report challenges accessing relevant and understandable information regarding their child's condition. We developed GenE Compass, an information...
9.
Selvanathan A, Macintosh R, Johnson A, Sarkozy V, Neville K, Sachdev R
Epileptic Disord
. 2023 Jul;
25(5):783-786.
PMID: 37415295
No abstract available.
10.
Nevin S, Wakefield C, Dadich A, LeMarne F, Macintosh R, Beavis E, et al.
PEC Innov
. 2023 Jun;
1:100014.
PMID: 37364015
Objective: To understand parents' of children with developmental and epileptic encephalopathies needs and preferences for psychological resources. Methods: Using a person-based approach, a multidisciplinary panel of clinician and researchers ( ...