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Page 1
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N, do Rosario MC, Majethia P, Mascarenhas S, Rao LP, Nair KV, Hunakunti B, Prasannakumar AP, Naik R, Narayanan DL, Nayak SS, Bhat V, Sharma S, Ramesh Bhat Y, Yatheesha BL, Kulkarni R, Patil SJ, Nampoothiri S, Siddiqui S, Girisha KM, Bielas S, Shukla A. Kaur N, et al. Among authors: bielas s. Am J Med Genet A. 2024 Oct 29:e63914. doi: 10.1002/ajmg.a.63914. Online ahead of print. Am J Med Genet A. 2024. PMID: 39470296
Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity.
Pallavicini G, Moccia A, Iegiani G, Parolisi R, Peirent ER, Berto GE, Lorenzati M, Tshuva RY, Ferraro A, Balzac F, Turco E, Salvi SU, Myklebust HF, Wang S, Eisenberg J, Chitale M, Girgla NS, Boda E, Reiner O, Buffo A, Di Cunto F, Bielas SL. Pallavicini G, et al. Among authors: bielas sl. J Clin Invest. 2024 Nov 1;134(21):e175435. doi: 10.1172/JCI175435. J Clin Invest. 2024. PMID: 39316437 Free PMC article.
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure M, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan YC, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A. Werren EA, et al. Among authors: bielas sl. Brain. 2024 Sep 18:awae299. doi: 10.1093/brain/awae299. Online ahead of print. Brain. 2024. PMID: 39292993
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL. Werren EA, et al. Among authors: bielas sl. Cell Death Dis. 2024 May 30;15(5):379. doi: 10.1038/s41419-024-06768-6. Cell Death Dis. 2024. PMID: 38816421 Free PMC article.
Author Correction: Quiescence enables unrestricted cell fate in naive embryonic stem cells.
Khoa LTP, Yang W, Shan M, Zhang L, Mao F, Zhou B, Li Q, Malcore R, Harris C, Zhao L, Rao RC, Iwase S, Kalantry S, Bielas SL, Lyssiotis CA, Dou Y. Khoa LTP, et al. Among authors: bielas sl. Nat Commun. 2024 Mar 12;15(1):2215. doi: 10.1038/s41467-024-46566-4. Nat Commun. 2024. PMID: 38472240 Free PMC article. No abstract available.
Quiescence enables unrestricted cell fate in naive embryonic stem cells.
Khoa LTP, Yang W, Shan M, Zhang L, Mao F, Zhou B, Li Q, Malcore R, Harris C, Zhao L, Rao RC, Iwase S, Kalantry S, Bielas SL, Lyssiotis CA, Dou Y. Khoa LTP, et al. Among authors: bielas sl. Nat Commun. 2024 Feb 26;15(1):1721. doi: 10.1038/s41467-024-46121-1. Nat Commun. 2024. PMID: 38409226 Free PMC article.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Among authors: bielas sl. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Majethia P, et al. Among authors: bielas s. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. Clin Genet. 2024. PMID: 38374498 Free PMC article.
61 results