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Page 1
The Genetics of Primary Microcephaly.
Jayaraman D, Bae BI, Walsh CA. Jayaraman D, et al. Annu Rev Genomics Hum Genet. 2018 Aug 31;19:177-200. doi: 10.1146/annurev-genom-083117-021441. Epub 2018 May 23. Annu Rev Genomics Hum Genet. 2018. PMID: 29799801 Review.
Genetic changes shaping the human brain.
Bae BI, Jayaraman D, Walsh CA. Bae BI, et al. Among authors: jayaraman d. Dev Cell. 2015 Feb 23;32(4):423-34. doi: 10.1016/j.devcel.2015.01.035. Dev Cell. 2015. PMID: 25710529 Free PMC article. Review.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Evrony GD, et al. Among authors: jayaraman d. Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19. Genome Res. 2017. PMID: 28630177 Free PMC article.
Expanding the clinical spectrum of biallelic ZNF335 variants.
Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC. Stouffs K, et al. Among authors: jayaraman d. Clin Genet. 2018 Aug;94(2):246-251. doi: 10.1111/cge.13260. Epub 2018 May 3. Clin Genet. 2018. PMID: 29652087 Free PMC article.
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: jayaraman d. Res Sq [Preprint]. 2024 Oct 14:rs.3.rs-4915388. doi: 10.21203/rs.3.rs-4915388/v1. Res Sq. 2024. Update in: Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w PMID: 39483874 Free PMC article. Updated. Preprint.
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: jayaraman d. Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w. Acta Neuropathol Commun. 2024. PMID: 39468638 Free PMC article.
143 results