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Year Number of Results
2017 3
2018 3
2019 9
2020 3
2021 8
2022 1
2023 4
2024 6
2025 7

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40 results

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Page 1
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
Arboleda-Velasquez JF, Lopera F, O'Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Arboleda-Velasquez JF, et al. Among authors: naymik m. Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4. Nat Med. 2019. PMID: 31686034 Free PMC article.
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. De La Vega FM, et al. Among authors: naymik m. Genome Med. 2021 Oct 14;13(1):153. doi: 10.1186/s13073-021-00965-0. Genome Med. 2021. PMID: 34645491 Free PMC article.
Phenome-wide association of APOE alleles in the All of Us Research Program.
Khajouei E, Ghisays V, Piras IS, Martinez KL, Vicenti AT, Naymik M, Ngo P, Tran TC, Denny JC, Wheeler TJ, Huentelman MJ, Reiman EM, Karnes JH. Khajouei E, et al. Among authors: naymik m. EBioMedicine. 2025 Jul;117:105768. doi: 10.1016/j.ebiom.2025.105768. Epub 2025 May 31. EBioMedicine. 2025. PMID: 40451134 Free PMC article.
The genetics of TDP43-Type-C neurodegeneration: a whole genome sequencing study.
Nassan M, Ayala IA, Sloan J, Bonfitto A, Stark B, Song S, Naymik M, Geula C, Gefen T, Barbieri E, Piras IS, Mesulam MM, Huentelman MJ. Nassan M, et al. Among authors: naymik m. medRxiv [Preprint]. 2025 Jan 28:2025.01.25.25320561. doi: 10.1101/2025.01.25.25320561. medRxiv. 2025. PMID: 39973992 Free PMC article. Preprint.
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, Craig DW, Szelinger S, Huentelman MJ, Narayanan V, Rangasamy S. Ramsey K, et al. Among authors: naymik m. Mol Genet Genomic Med. 2022 Feb;10(2):e1857. doi: 10.1002/mgg3.1857. Epub 2022 Jan 7. Mol Genet Genomic Med. 2022. PMID: 34994087 Free PMC article. No abstract available.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I. Piras IS, et al. Among authors: naymik m. Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2. Epigenomics. 2017. PMID: 28967789
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, Dodson J, Venugopal P, Brzezinski M, Llaci L, Gerald B, Mills G, Sanchez-Castillo M, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Naymik M, Schrauwen I, Craig DW, Piras IS, Huentelman MJ, Schork NJ, Narayanan V, Rangasamy S. Frankel E, et al. Among authors: naymik m. Cells. 2023 May 21;12(10):1437. doi: 10.3390/cells12101437. Cells. 2023. PMID: 37408271 Free PMC article.
FTO variation and early frontostriatal brain development in children.
Thapaliya G, Kundu P, Jansen E, Naymik MA, Lee R, Bruchhage MMK, D'Sa V, Huentelman MJ, Lewis CR, Müller HG, Deoni SCL; RESONANCE consortium; Carnell S. Thapaliya G, et al. Among authors: naymik ma. Obesity (Silver Spring). 2024 Jan;32(1):156-165. doi: 10.1002/oby.23926. Epub 2023 Oct 10. Obesity (Silver Spring). 2024. PMID: 37817330 Free PMC article.
40 results