ArticlebioRxiv : the preprint server for biology2026
A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.
Ashley J Melendez-Perez, Emily L Durham, Dana E Layo-Carris, Elizabeth M Gonzalez, Emily E Lubin, Sarina M Smith, Kaitlyn E Worthington, Kaitlin A Katsura, Rajesh Angireddy, Xiao-Min Wang and 7 more
Abstract readPreprint
In one paragraphArticle in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
17 authors.
Ashley J Melendez-PerezDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0009-0001-4693-4306 Emily L DurhamDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-6322-9393 Dana E Layo-CarrisDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-7009-0652 Elizabeth M GonzalezDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-6424-1522 Emily E LubinDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-6277-1156 Sarina M SmithDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0009-0001-8510-9587 Kaitlyn E WorthingtonDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kaitlin A KatsuraDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Rajesh AngireddyDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-9215-2209 Xiao-Min WangDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-4777-1422 Kelly J AbdallaDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0009-0009-2801-7588 Divya NairDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Aaron BlackDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Abdias Diaz-RosadoDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-6655-8854 Brianna CiesielskiInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0009-0005-7347-0702 W Timothy O'BrienInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA, USA.
Elizabeth J K BhojDepartment of Pediatrics, Division ofx Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-5748-3507 Funding
MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MPostdoctoral Training Program in Genomic MedicineT32HG009495 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Katherine L. Nathanson, Bogdan Pasaniuc · 2017 to 2026
$4.2MDe novo mutations in replication-independent histone genes and an unexplored class of rare pediatric mendelian syndromesF30HD112125 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI Emily Elizabeth Lubin · 2024 to 2026
$102kNHGRI NIH HHS T32 HG009495NICHD NIH HHS F30 HD112125NIGMS NIH HHS T32 GM008638
6 · The paper itselfAbstract
TBCK Syndrome is a rare Mendelian disorder caused by variants in the
Indexed as
disease modelMouseNeurodevelopmentpreclinicalTBCKultra-rare
Identifiers
PMID42182390
PMCPMC13192947
What OpenQuestion holds
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