Author

Paul R. Mark

Spectrum HealthORCID 0000-0002-1020-888XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Developmental Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:zebrafish· 1

Frequent Co-Authors

Pradeep C. VasudevaniD· 2 shared Adam JacksoniD· 1 shared Alexander M. HoltziD· 1 shared Alice GardhamiD· 1 shared Amber Hogart BegtrupiD· 1 shared Anna ChasseventiD· 1 shared Anna HurstiD· 1 shared Carla Gilliland· 1 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Pradeep C. VasudevanORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Developmental BiologyDevelopmental BiologyPeer-reviewedSep 30, 2025

A zebrafish model of nicotinamide adenine dinucleotide (NAD+) deficiency-derived congenital disorders

Visakuo Tsurho, Carla Gilliland, Jessica Ensing…·Stephanie J. Grainger

The paper describes a zebrafish model of NAD+ deficiency to study congenital anomalies and their potential link to VACTERL association.

DOI 10.1016/j.ydbio.2025.09.022

zebrafishexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedOct 1, 2022

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Janina Sörmann, Marcus Schewe, Peter Proks…·Stephen J. Tucker

The paper identifies de novo gain-of-function mutations in KCNK3 causing a developmental disorder with sleep apnea by disrupting X-gating of TASK-1 channels.

30 citations

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintAug 9, 2022

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang…·Naiara Akizu

1 citation

humanexperimental assay

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