Author

Jill A. Rosenfeld

Baylor College of Medicine

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· 4

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Research Focus:variant calling· 3 Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:database / resource· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Brendan LeeiD· 2 shared Carlos A. BacinoiD· 2 shared Hongzheng DaiiD· 2 shared Kosuke IzumiiD· 2 shared Pengfei Liu· 2 shared Ronit MaromiD· 2 shared Seema R. LalaniiD· 2 shared Undiagnosed Diseases Network· 2 shared

Activity by Year

2025-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Brendan LeeORCID

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4 papers

Recent·Most cited

Expanding clinical and variant spectrum of CBX1-related syndrome: Report of three novel cases

Graciela Carrollo, Shuhei Fujino, Harrison Higgs, Anita Kabahizi, Randy Le, Rachel Rabin, John Pappas, Amy Crunk, Kara Ranguin, Jérémie Mortreux, Marilyn Lackmy, Carlos A. Gadia, Matthew Hoi Kin Chau, Jill A. Rosenfeld, Xi Luo, Kosuke Izumi

This paper reports three novel de novo CBX1 variants in patients with developmental delay and describes genotype-phenotype correlations.

medRxiv · Sep 28, 2026 · PreprintGenetic & Genomic Medicine

Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency

Nathalie M. Aceves-Ewing, Nanbing Li-Villarreal, Xiaohui Li, Seema R. Lalani, Jill A. Rosenfeld, Varduhi Petrosyan, Aleksandar Milosavljevic, Angelina Gaspero, Denise G. Lanza, Audrey E. Christiansen, Amrit Koirala, Abu Hena Mostafa Kamal, Nagireddy Putluri, Cristian Coarfa, Bao Tran, , Lindsay Catherine Burrage

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

medRxiv · Aug 27, 2026 · PreprintGenetic & Genomic Medicine

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski, Chloe M. Reuter, Jennefer N. Carter, Michael Blas, Undiagnosed Diseases Network, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, , Carlos A. Pardo-Villamizar

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

Genome biology · Jun 15, 2026Peer-reviewedGenetic & Genomic Medicine

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian, Elena Kondakova, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Daniel C. Koboldt, Amy Feldman Lewanda, Pengfei Liu, Dana Marafi, Jennifer Ellen Posey, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, , Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

Nature Communications · Feb 17, 2025Peer-reviewedGenetic & Genomic Medicine