Author

Liana Friedman

University of California San Diego

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

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Friedhelm HildebrandtiD· 2 shared Joseph G. GleesoniD· 2 shared Abbas TafakhoriiD· 1 shared Ahmed I. MarwaniD· 1 shared Aida M. S. SalemiD· 1 shared Alan R. ShuldineriD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexandre ReymondiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Friedhelm HildebrandtORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos, Francesca Mattioli, Jacqueline Chrast, Sissy Bassani, Hossein Darvish, Ginevra Zanni, Stefania Colafati, Lorena Travaglini, Francesco Nicita, Shivarajan Manickavasagam Amudhavalli, Caitlin Lawson, Joseph G. Gleeson, Isabella Stuewe, , Alexandre Reymond

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

medRxiv · Oct 14, 2026 · PreprintGenetic & Genomic Medicine

The contribution of de novo coding mutations to meningomyelocele

Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave Ojeda, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo M. Patel, , Joseph G. Gleeson

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

Nature · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine