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Rani Sachdev

As seen in: Nature, Neurology
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Articles by Rani Sachdev

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

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By Adam Jackson, Alexander Blakes, Bader Alhaddad, Olivia Henry, Elizabeth 'Ebbie' Wall, Ola A. Abdelhadi, Khadijah Bakur, Edward D Blair, Angela Brady, Helen K Brittain, Kate Chandler, Natasha Clarke, Irene Duba, Frances Elmslie, Jamie M. Ellingford, Lisa J. Ewans, Andrew Fennell, Simon Heller, Anna Hammarsjö, Nicole Lesko, Anna Lindstrand, Rebecca Macintosh, Sahar Mahmoud Mansour, Lara Menzies, Kay Metcalfe, Lina Nashef, Raymond T. O’Keefe, Elizabeth Palmer, Amitav Parida, Melody Redman, Alessandra Renieri, Chiara Fallerini, Caterina Rizzo, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Helen Stewart, Tommy Stödberg, Benito Banos-Pinero, Fulya Taylan, Huw Thomas Verified, Samuel Wiafe, Anna Wedell, Nicola Whiffin, Susan Walker, Rocio Rius, Ann Nordgren, Fowzan S. Alkuraya, Jenny Lord, Siddharth Banka, Angelica M. Delgado-Vega, Shakti Agrawal, Miriana Danelli, Nicholas Drinkall, Gabriella Gazdagh, Kristina Karrman, Usha Kini, Alison Milhench, Nadja Pekkola Pacheco, Katrina Prescott, Flavia Tinella, Jong Hee Chae
| Nature Verified
Abstract Neurodevelopmental disorders (NDDs) affect 2–4% of the population, are predominantly genetic and remain unsolved in ~50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. We define a recessive RNU2-2 syndrome, delineate its unique genetic architecture and show that it manifests clinically as a severe developmental and epileptic encephalopathy.
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Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

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By Elizabeth Palmer, Rani Sachdev, Rebecca Macintosh, Uirá Souto Melo
| Neurology Verified
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies Elizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, Uirá Souto Melo, Stefan Mundlos, Sarah Righetti, Tejaswi Kandula, Andre E. Minoche, Clare Puttick, Velimir Gayevskiy, Luke Hesson, Senel Idrisoglu, Cheryl Shoubridge, Monica Hong Ngoc Thai, Ryan L. Davis, Alexander P.
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