Author

Ingrid Cristian

Orlando Health

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 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:clustering· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Reza MaroofianiD· 2 shared Abraham José Paredes-FuentesiD· 1 shared Adeline Vanderver· 1 shared Afshin FayaziiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alan H. BeggsiD· 1 shared Alicia Kerr· 1 shared Allyn McConkie‐RoselliD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Reza MaroofianORCID

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Author profile →

3 papers

Recent·Most cited

Domain specific phenotypic expansion associated with variants in MACF1

Nikhita Gogate, Angad Jolly, Jill Anne Rosenfeld, Paulina Bahena Carbajal, Diana Carrasco, Jonathan A. Bernstein, Devon E. Bonner, Tiffany Busa, Ingrid Cristian, Precilla D’Souza, Jennifer Friedman, Svetlana Gorokhova, Thomas Haaf, Isabella Herman, Uğur Ufuk Işın, , Shamil R. Sunyaev

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

Genetics in Medicine · Oct 1, 2026Peer-reviewedGenetic & Genomic Medicine

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian, Aida Maria Bertoli‐Avella, Marta Gómez‐Chiari, Jordi Muchart, Abraham José Paredes-Fuentes, María del Mar O’Callaghan, Irene Machado-Casas, Ingrid Cristian, Jennifer Morrison, Àngels García‐Cazorla, Anna Codina, Mohammad Miryounesi, Emir Zonic, , Roser Urreizti

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

medRxiv · Nov 27, 2024 · PreprintGenetic & Genomic Medicine

Complete loss of CASK causes severe ataxia through cerebellar degeneration in human and mouse

Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E. W. LaConte, Michael A. Fox, Sarika Srivastava, Konark Mukherjee

This study shows that complete loss of CASK causes cerebellar degeneration in humans and mice, leading to severe ataxia and encephalopathy, while heterozygous loss results in less severe, non-progressive pathology due to X-chromosome inactivation.

bioRxiv · Mar 22, 2021 · PreprintNeuroscience