Author

Pedro Alfonso Sanchez-Lara

Cedars-Sinai Medical CenterORCID 0000-0003-1181-7828Unclaimed 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· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anita M. RauchiD· 2 shared Frédéric Tran Mau‐ThemiD· 2 shared Katheryn GrandiD· 2 shared Afif Ben‐MahmoudiD· 1 shared Alain VerloèsiD· 1 shared Alban C. ZiegleriD· 1 shared Alexander P.A. StegmanniD· 1 shared Alice GoldenbergiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anita M. RauchORCID

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2 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

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