Author

Marilyn C. Jones

Rady Children's Hospital-San DiegoORCID 0000-0002-4512-2015Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:spatial transcriptomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adriana Maria Tavares Gomes· 1 shared Alejandra P. ReyesiD· 1 shared Alexej S. AbyzoviD· 1 shared Alice Lee· 1 shared Alissa M. D’GamaiD· 1 shared Andreas Schulze‐BonhageiD· 1 shared Angus A. WilfongiD· 1 shared Anna S. NidhiryiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adriana Maria Tavares Gomes

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2 papers

Recent·Most cited

MAP3K7 novel variants in syndromic 46,XY DSD

Thanh Nha Uyen Le, Shirin Moradifard, Alejandra P. Reyes, Thi Bich Ngoc Can, Adriana Maria Tavares Gomes, Marilyn C. Jones, Dung Vu Chi, Vincent R. Harley

This paper reports three novel MAP3K7 variants in 46,XY DSD patients with syndromes CSCF or FMD2, showing their role in male sex differentiation through GATA4/FOG2 expression and Wnt signaling.

medRxiv · May 6, 2026 · PreprintGenetic & Genomic Medicine

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, , Eduardo Maury

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

Nature Genetics · Jan 12, 2023Peer-reviewedGenetics