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Page 1
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: cuddapah va. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Weisz-Hubshman M, Burrage LC, Jangam SV, Rosenfeld JA, von Hardenberg S, Bergmann A, Richter MF, Rydzanicz M, Ploski R, Stembalska A, Chung WK, Hernan RR, Lim FY, Brunet T, Syrbe S, Keren B, Heide S, Murdock DR, Dai H, Xia F, Ketkar S, Dawson B, Narayanan V, Graves HK; Undiagnosed Diseases Network; Wangler MF, Bacino C, Lee B. Weisz-Hubshman M, et al. Genet Med. 2025 Apr;27(4):101369. doi: 10.1016/j.gim.2025.101369. Epub 2025 Jan 28. Genet Med. 2025. PMID: 39891528 Free PMC article.
A neurocentric perspective on glioma invasion.
Cuddapah VA, Robel S, Watkins S, Sontheimer H. Cuddapah VA, et al. Nat Rev Neurosci. 2014 Jul;15(7):455-65. doi: 10.1038/nrn3765. Nat Rev Neurosci. 2014. PMID: 24946761 Free PMC article. Review.
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Kobren SN, et al. Nat Commun. 2025 Aug 7;16(1):7267. doi: 10.1038/s41467-025-61712-2. Nat Commun. 2025. PMID: 40770127 Free PMC article.
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP, Sands CF, Juan IR, Mitchell J, Ravanmehr V, Butts JC, De-Paula RB, Kim Y, Hu F, Wang Q, Vitsios D, Garg M, Middleton L, Tyrlik M, Messa M, Del Angel G, Calame DG, Saade H, Robak L, Hollis B, Cuddapah VA, Zoghbi HY, Shulman JM, Petrovski S, Al-Ramahi I, Tachmazidou I, Dhindsa RS. Spargo TP, et al. Among authors: cuddapah va. Cell Rep. 2025 Mar 25;44(3):115355. doi: 10.1016/j.celrep.2025.115355. Epub 2025 Mar 7. Cell Rep. 2025. PMID: 40056900 Free PMC article.
Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.
Cuddapah VA, Chen D, Cho B, Moore R, Suri M, Safraou H, Tran-Mau-Them F, Wilson A, Odgis J, Rehman AU, Saunders C, Ganesan S, Jobanputra V, Scherer SW, Helbig I, Sehgal A. Cuddapah VA, et al. Proc Natl Acad Sci U S A. 2025 Aug 5;122(31):e2427085122. doi: 10.1073/pnas.2427085122. Epub 2025 Jul 28. Proc Natl Acad Sci U S A. 2025. PMID: 40720646 Free PMC article.
Sleep drive, not total sleep amount, increases seizure risk.
Cuddapah VA, Hsu CT, Valle Sirias F, Li Y, Shah HM, Saul C, Killiany S, Guevara C, Shon J, Yue Z, Gionet GL, Putt ME, Sehgal A. Cuddapah VA, et al. Nat Commun. 2025 Jul 29;16(1):6967. doi: 10.1038/s41467-025-62311-x. Nat Commun. 2025. PMID: 40730814 Free PMC article.
41 results