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
21.
Stephenson S, Costain G, Blok L, Silk M, Nguyen T, Dong X, et al.
Am J Hum Genet
. 2022 Apr;
109(4):601-617.
PMID: 35395208
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to...
22.
Nevin S, Wakefield C, Le Marne F, Beavis E, Macintosh R, Sachdev R, et al.
Eur J Paediatr Neurol
. 2022 Mar;
37:129-138.
PMID: 35240556
Methods: We recruited caregivers through two paediatric hospital databases, and we also shared an invitation to the online questionnaire via genetic epilepsy advocacy organisations. The online questionnaire included a combination...
23.
Migliore C, Vendramin A, McKee S, Prontera P, Faravelli F, Sachdev R, et al.
Genes (Basel)
. 2022 Feb;
13(2).
PMID: 35205294
Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defects along the midline of the body. The main clinical signs are represented by hypertelorism, laryngo-tracheo-esophageal defects...
24.
Bournazos A, Riley L, Bommireddipalli S, Ades L, Akesson L, Al-Shinnag M, et al.
Genet Med
. 2021 Dec;
24(1):130-145.
PMID: 34906502
Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based...
25.
Dingemans A, Truijen K, Kim J, Alacam Z, Faivre L, Collins K, et al.
Eur J Hum Genet
. 2021 Sep;
30(3):271-281.
PMID: 34521999
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded protein promotes pre-mRNA splicing of many genes essential for...
26.
Shah M, Selvanathan A, Baynam G, Berman Y, Boughtwood T, Freckmann M, et al.
J Paediatr Child Health
. 2021 Aug;
58(1):8-15.
PMID: 34427008
Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have...
27.
Tremblay-Laganiere C, Maroofian R, Nguyen T, Karimiani E, Kirmani S, Akbar F, et al.
Genet Med
. 2021 Jun;
23(10):1873-1881.
PMID: 34113002
Purpose: Phosphatidylinositol Glycan Anchor Biosynthesis, class G (PIGG) is an ethanolamine phosphate transferase catalyzing the modification of glycosylphosphatidylinositol (GPI). GPI serves as an anchor on the cell membrane for surface...
28.
Pandelache A, Francis D, Oertel R, Dickson R, Sachdev R, Ling L, et al.
Genes (Basel)
. 2021 Jun;
12(6).
PMID: 34073864
We describe a female with a 72 CGG premutation (PM) (CGG 55-199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The proband had a high risk...
29.
Sundercombe S, Berbic M, Evans C, Cliffe C, Elakis G, Temple S, et al.
J Mol Diagn
. 2021 May;
23(7):894-905.
PMID: 33962052
Massively parallel sequencing has markedly improved mendelian diagnostic rates. This study assessed the effects of custom alterations to a diagnostic genomic bioinformatic pipeline in response to clinical need and derived...
30.
Palmer E, Sachdev R, Macintosh R, Melo U, Mundlos S, Righetti S, et al.
Neurology
. 2021 Feb;
96(13):e1770-e1782.
PMID: 33568551
Objective: To assess the benefits and limitations of whole genome sequencing (WGS) compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis of developmental and epileptic encephalopathies...