Rani Sachdev - Concepedia

Author

Rani Sachdev

Also Known As

Damien Sanlaville, Jonathan Rodgers, R. Sachdev, Rani K Sachdev, Rani K. Sachdev, Rani Sachdev, Sachdev, R, Sachdev, Rani K.

Publications

2.2K

Citations

H-Index

Concepts

All Affiliations

UNSW Sydney Sydney Children's Hospital Hunter Genetics Murdoch Children's Research Institute Garvan Institute of Medical Research

About

Rani Sachdev is an author at UNSW Sydney specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	18	812
2	Social Sciences	4	4	122
3	Arts	1	1	33
4	Education	1	1	16
5	Anatomy	1	1	28

Rani Sachdev

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders Lisa Ewans, Deborah Schofield, Rupendra Shrestha, Genetics in Medicine Functional GenomicsSequencingMendelian DisorderGenetic DisorderMedicine	2018	191
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Cell	2018	144
Phenotypic insights into <i>ADCY5</i>‐associated disease Florence Chang, Ana Westenberger, Russell C. Dale, Movement Disorders	2016	121
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis Lisa Ewans, André E. Minoche, Deborah Schofield, European Journal of Human Genetics	2022	110
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha, Molecular Genetics & Genomic Medicine	2018	109
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Genetics in Medicine MedicineGeneticsRna SplicingPutative Splicing VariantsPathology	2021	99
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Nature	2024	93
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies Elizabeth E. Palmer, Rani Sachdev, Rebecca Macintosh, Neurology	2021	92
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR) Leon R. McQuade, John Christodoulou, Marcia L. Budarf, American Journal of Medical Genetics Digeorge AnomalyGene Deletion DataDeletion SyndromeDevelopmental BiologyGenotype/phenotype Correlation	1999	71
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology	2019	64

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