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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
Robinson K, Singh SK, Walkup RB, Fawwal DV, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Chung WK, Cutler DJ, Epstein MP, Fashina A, Gasser B, Gowans LJ, Hecht JT, Uribe LM, Scott DA, Shaw GM, Thomas MA, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Murray JC, Cornell RA, Leslie-Clarkson EJ. Robinson K, et al. Among authors: murray jc. medRxiv [Preprint]. 2025 Jan 17:2025.01.17.25320742. doi: 10.1101/2025.01.17.25320742. medRxiv. 2025. PMID: 39867391 Free PMC article. Preprint.
Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.
Petrin AL, Machado-Paula LA, Hinkle A, Hovey L, Awotoye W, Chimenti M, Darbro B, Ribeiro-Bicudo LA, Dabdoub SM, Peter T, Breheny P, Murray JC, Van Otterloo E, Rengasamy Venugopalan S, Moreno-Uribe LM. Petrin AL, et al. Among authors: murray jc. Cleft Palate Craniofac J. 2025 Jan 17:10556656241306202. doi: 10.1177/10556656241306202. Online ahead of print. Cleft Palate Craniofac J. 2025. PMID: 39819101
Building a growing genomic repository for maternal and fetal health through the PING Consortium.
Abdelmalek CM, Singh S, Fasil B, Horvath AR, Mulkey SB, Curé C, Campos M, Cavalcanti DP, Tong VT, Mercado M, Daza M, Benavides MM, Acosta J, Gilboa S, Valencia D, Sancken CL, Newton S, Scalabrin DMF, Mussi-Pinhata MM, Vasconcelos Z, Chakhtoura N, Moye J, Leslie EJ, Bulas D, Vezina G, Marques FJP, Leyser M, Del Campo M, Vilain E, DeBiasi RL, Wang T, Nath A, Haydar T, Muenke M, Mansour TA, du Plessis AJ, Murray JC, Cordero JF, Kousa YA. Abdelmalek CM, et al. Among authors: murray jc. Pediatr Res. 2025 Jan 3. doi: 10.1038/s41390-024-03793-1. Online ahead of print. Pediatr Res. 2025. PMID: 39753885
Multi-ancestry Genome Wide Association Study Meta-analysis of Non-syndromic Orofacial Clefts.
Jia Z, Mukhopadhyay N, Yang Z, Butali A, Sun J, You Y, Yao M, Zhen Q, Ma J, He M, Pan Y, Alade A, Wang Y, Olujitan M, Qi M, Adeyemo WL, Buxó CJ, Gowans LJJ, Eshete M, Huang Y, Li C, Leslie EJ, Wang L, Bian Z, Carlson JC, Shi B, Weinberg SM, Murray JC, Sun L, Marazita ML, Freathy RM, Beaumont RN. Jia Z, et al. Among authors: murray jc. medRxiv [Preprint]. 2024 Dec 13:2024.12.06.24318522. doi: 10.1101/2024.12.06.24318522. medRxiv. 2024. PMID: 39711721 Free PMC article. Preprint.
Neurologic Outcomes in People With Multiple Sclerosis Treated With Immune Checkpoint Inhibitors for Oncologic Indications.
Quinn CM, Rajarajan P, Gill AJ, Kopinsky H, Wolf AB, de Camargo CS, Lamb J, Bacon TE, Murray JC, Probasco JC, Galetta KM, Kantor D, Coyle P, Bhise V, Alvarez E, Conway SE, Bhattacharyya S, Kister I. Quinn CM, et al. Among authors: murray jc. Neurology. 2024 Dec 10;103(11):e210003. doi: 10.1212/WNL.0000000000210003. Epub 2024 Nov 14. Neurology. 2024. PMID: 39541548
781 results