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
31.
Sachdev R, Field M, Baynam G, Beilby J, Berarducci M, Berman Y, et al.
J Paediatr Child Health
. 2021 Feb;
57(4):477-483.
PMID: 33566436
Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed...
32.
Temple S, Sachdev R, Ellaway C
JIMD Rep
. 2020 Nov;
56(1):3-8.
PMID: 33204589
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder caused by variants in the gene. In cholesterol biosynthesis, 7-dehydrocholesterol (7-DHC) is converted to cholesterol by the enzyme 7-DHC reductase, which...
33.
Palmer E, Carroll R, Shaw M, Kumar R, Minoche A, Leffler M, et al.
Am J Hum Genet
. 2020 Nov;
107(6):1157-1169.
PMID: 33159883
Interpretation of the significance of maternally inherited X chromosome variants in males with neurocognitive phenotypes continues to present a challenge to clinical geneticists and diagnostic laboratories. Here we report 14...
34.
Harms F, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday B, et al.
Hum Mutat
. 2020 Jul;
41(9):1645-1661.
PMID: 32623794
The family of Tre2-Bub2-Cdc16 (TBC)-domain containing GTPase activating proteins (RABGAPs) is not only known as key regulatorof RAB GTPase activity but also has GAP-independent functions. Rab GTPases are implicated in...
35.
Lunke S, Eggers S, Wilson M, Patel C, Barnett C, Pinner J, et al.
JAMA
. 2020 Jun;
323(24):2503-2511.
PMID: 32573669
Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems. Objective: To prospectively...
36.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik K, Mizuno S, Suzumura H, et al.
J Hum Genet
. 2019 Sep;
64(12):1173-1186.
PMID: 31530938
Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found...
37.
Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, et al.
Clin Epigenetics
. 2018 Sep;
10(1):114.
PMID: 30165906
Background: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM)...
38.
Ewans L, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, et al.
Genet Med
. 2018 Mar;
20(12):1564-1574.
PMID: 29595814
Purpose: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of...
39.
Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, et al.
Genet Med
. 2017 Dec;
20(9):1061-1068.
PMID: 29215649
Purpose: The craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we...
40.
Gururaj S, Palmer E, Sheehan G, Kandula T, Macintosh R, Ying K, et al.
Cell Rep
. 2017 Oct;
21(4):926-933.
PMID: 29069600
Early infantile epileptic encephalopathies (EOEE) are a debilitating spectrum of disorders associated with cognitive impairments. We present a clinical report of a KCNT2 mutation in an EOEE patient. The de...