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
11.
Wojcik M, Srivastava S, Agrawal P, Balci T, Callewaert B, Calvo P, et al.
Am J Med Genet A
. 2023 May;
191(7):1900-1910.
PMID: 37183572
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be...
12.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor A, Sullivan J, et al.
Am J Hum Genet
. 2023 Feb;
110(3):499-515.
PMID: 36724785
Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the conserved Triple T (TTT) complex that modulates activity of...
13.
Le Marne F, Briggs N, Frith K, Kariyawasam D, McCarthy H, Nunn K, et al.
J Paediatr Child Health
. 2022 Dec;
59(2):307-318.
PMID: 36537724
Aim: The purpose of this study was to evaluate whether pre-recorded video-based lectures (VBLs) covering a range of paediatric topics are an acceptable means of providing ongoing education for consultant...
14.
Palmer E, Pusch M, Picollo A, Forwood C, Nguyen M, Suckow V, et al.
Mol Psychiatry
. 2022 Nov;
28(2):668-697.
PMID: 36385166
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype...
15.
Robertson E, Kelada L, Best S, Goranitis I, Grainger N, Le Marne F, et al.
BMJ Open
. 2022 Oct;
12(10):e063249.
PMID: 36288836
Introduction: Developmental and epileptic encephalopathies (DEEs) are rare epilepsy conditions that collectively impact 1 in 2000 children. They are highly genetically heterogeneous, resulting in significant barriers to accurate and adequate...
16.
Nevin S, Beavis E, Macintosh R, Palmer E, Sachdev R, Le Marne F, et al.
J Paediatr Child Health
. 2022 Sep;
58(10):1722-1725.
PMID: 36069627
This is the second of a three-part series that explores different aspects of uncertainty, certainty and hope in the context of providing clinical care for children with rare and life-limiting...
17.
Palmer E, Sachdev R, Beavis E, Macintosh R, Le Marne F, Nevin S, et al.
J Paediatr Child Health
. 2022 Sep;
58(10):1718-1721.
PMID: 36069374
This is the first of three articles exploring the aspects of clinical care for children with rare neurological disorders including uncertainties old and new. The disruptive technologies of genomic sequencing...
18.
Bye A, Le Marne F, Beavis E, Macintosh R, Nevin S, Palmer E, et al.
J Paediatr Child Health
. 2022 Sep;
58(10):1726-1728.
PMID: 36062939
This is the third article of a three-part series and addresses how clinicians provide hopefulness meaningfully to families coping with life-limiting and quality of life impairing neurological conditions. The first...
19.
Ewans L, Minoche A, Schofield D, Shrestha R, Puttick C, Zhu Y, et al.
Eur J Hum Genet
. 2022 Aug;
30(10):1121-1131.
PMID: 35970915
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of...
20.
Shimada S, Ng B, White A, Nickander K, Turgeon C, Liedtke K, et al.
J Med Genet
. 2022 Jul;
PMID: 35790351
Purpose: To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinical biochemical assay...