R

Researcher Profile

Rani Sachdev

3

Publications

255

Citations

10

Co-Authors

3

Active Years

Publications

Open Access Journal Article Nature Jul 11, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen · Ruebena Dawes · Hyung Chul Kim · Alicia Ljungdahl +115 more

10.1038/s41586-024-07773-7 106 citations

Journal Article European Journal of Human Genetics Sep 15, 2021

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

Alexander J. M. Dingemans · Kim M. G. Truijen · Jung-Hyun Kim · Zahide Alaçam +21 more

10.1038/s41431-021-00960-4 31 citations

Open Access Journal Article Movement Disorders Apr 08, 2016

Phenotypic insights into ADCY5‐associated disease

Florence C.F. Chang · Ana Westenberger · Russell C. Dale · Martin Smith +21 more

10.1002/mds.26598 118 citations

Publication Timeline

2024

1

2021

1

2016

1

Frequent Co-Authors

Ingrid M. B. H. van de Laar

Eloise Uebergang

Georgia Pitsava

Alexandra C. Martin-Geary

Matthew T. Wheeler