Rani Sachdev

Also affiliated with Sydney Children’s Hospitals Network

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 9 papers. Top paper: “Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome”.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

European Journal of Human Genetics(2022)10.1038/s41431-021-00960-4

N/A

0.557DataRank · unranked

40 citations

Kim M. G. Truijen, Jung‐Hyun Kim, Zahide Alaçam, Laurence Faivre, Kathleen M. Collins +20 more

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Molecular Psychiatry(2023)10.1038/s41380-022-01852-9

N/A

0.538DataRank · unranked

35 citations

Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow +94 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0.292DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

European Journal of Human Genetics(2024)10.1038/s41431-024-01563-5

N/A

0.241DataRank · unranked

4 citations

Jessica E. Rexach, Stéphanie Efthymiou, Büşra Aynekin, Hüseyin Per, Ayten Güleç +12 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABAA receptor

Neuropharmacology(2022)10.1016/j.neuropharm.2022.109295

N/A

0DataRank · unranked

3 citations

Meng Wang, Åsa Andersson, Marie Tuifua, Elizabeth E. Palmer, Rani Sachdev +4 more

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more