Author

Katheryn Grand

Cedars-Sinai Medical CenterORCID 0000-0002-9411-2913Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 3 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anita M. RauchiD· 2 shared Frédéric Tran Mau‐ThemiD· 2 shared Hakon H. HakonarsoniD· 2 shared Matthew A. DeardorffiD· 2 shared Pedro Alfonso Sanchez-LaraiD· 2 shared Theresa BrunetiD· 2 shared Tiong Yang TaniD· 2 shared Afif Ben‐MahmoudiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anita M. RauchORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Soundara Rajan, Senta Schönnagel, Karen Lucy Stals, Deirdre E. Donnelly, Siobhan O’Sullivan, John F. Mantovani, Tiong Yang Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Pauline Monin, , Konrad Platzer

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

medRxiv · Mar 31, 2025 · PreprintGenetic & Genomic Medicine

Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD

Leah Ragno, Daphne Yang, Trisha Bhatti, Jonathan P. Bradfield, Diane K. Bowen, Katheryn Grand, Hakon H. Hakonarson, Thomas F. Kolon, Joseph Glessner, Marie Celeste Simon, Nicolas Skuli, Maria George Vogiatzi, Marie A. Guerraty, Matthew A. Deardorff, Louise C. Pyle

This paper identifies increased ZFPM2 dosage as a mechanism for 46,XX testicular development independent of SRY in a mosaic individual.

medRxiv · May 27, 2024 · PreprintGenetic & Genomic Medicine

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia M. Maas, Bénédicte Gérard, Thomas Smol, Catherine Vincent‐Delorme, Benjamin Cogné, , Tianyun Wang

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brügger, Katheryn Grand, Kirsty M. McWalter, María J. Guillen Sacoto, Emma L. Wakeling, Jane A. Hurst, Michael March, Elizabeth J. K. Bhoj, Małgorzata J.M. Nowaczyk, , Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

Science Advances · May 12, 2021Peer-reviewedGenetic & Genomic Medicine