Author

Laurence Perrin

Assistance Publique – Hôpitaux de Paris

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1

Frequent Co-Authors

Boris KereniD· 3 shared Albert David· 2 shared Amélie PitoniD· 2 shared Bertrand IsidoriD· 2 shared Christèle DubourgiD· 2 shared Cyril MignotiD· 2 shared Didier LacombeiD· 2 shared Frédéric Tran Mau‐ThemiD· 2 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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3 shared papersGenetics

Boris KerenORCID

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Author profile →

4 papers

Recent·Most cited

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

Aileen A. Nava, Yaneth Perez-Rodriguez, Tzung‐Chien Hsieh, Alexander Stephen Byrne, Abigail S. Krall, Jerome Freudenberg, Niloufar Mansooralavi, Vijaya Pandey, Linsey Stiles, Cristiane Benincá, Jing-Mei Li, Sanaa Choufani, Meghna Singh, Shahida Moosa, Irene Valenzuela, , Valerie A. Arboleda

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

medRxiv · Aug 17, 2026 · PreprintGenetic & Genomic Medicine

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu V. Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, , Shinya Yamamoto

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

Cell Reports · Mar 1, 2022Peer-reviewedGenetics

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand, Marie Vincent, Maria del Mar Muñiz Moreno, Imene Boujelbene, Nathalie Drouot, Loréline Genschik, Élise Schaefer, Mathilde Nizon, Bénédicte Gérard, Marc Joel Abramowicz, Benjamin Cogné, Lucas Bronicki, Lydie Bürglen, , Amélie Piton

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

Genetics in Medicine · Aug 3, 2021Peer-reviewedGenetic & Genomic Medicine

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, , Thomas Bourgeron

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.

bioRxiv · Mar 18, 2017 · PreprintGenetics