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Year Number of Results
2012 4
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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Translational endpoints in fragile X syndrome.
de Esch CE, Zeidler S, Willemsen R. de Esch CE, et al. Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:256-69. doi: 10.1016/j.neubiorev.2013.10.012. Epub 2013 Oct 30. Neurosci Biobehav Rev. 2014. PMID: 24184744 Review.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: de esch ce. Am J Hum Genet. 2022 Oct 6;109(10):1789-1813. doi: 10.1016/j.ajhg.2022.08.012. Epub 2022 Sep 23. Am J Hum Genet. 2022. PMID: 36152629 Free PMC article.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: de esch ce. Am J Hum Genet. 2024 Mar 7;111(3):619. doi: 10.1016/j.ajhg.2024.02.006. Am J Hum Genet. 2024. PMID: 38458168 Free PMC article. No abstract available.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. Mostovoy Y, et al. Among authors: de esch cef. Am J Hum Genet. 2024 Dec 5;111(12):2693-2706. doi: 10.1016/j.ajhg.2024.10.006. Epub 2024 Nov 8. Am J Hum Genet. 2024. PMID: 39520989
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF. Seabra CM, et al. Among authors: de esch cef. Mol Autism. 2020 Jun 5;11(1):45. doi: 10.1186/s13229-020-00354-1. Mol Autism. 2020. PMID: 32503625 Free PMC article.
Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
Chen H, Victor AK, Klein J, Tacer KF, Tai DJ, de Esch C, Nuttle A, Temirov J, Burnett LC, Rosenbaum M, Zhang Y, Ding L, Moresco JJ, Diedrich JK, Yates JR 3rd, Tillman HS, Leibel RL, Talkowski ME, Billadeau DD, Reiter LT, Potts PR. Chen H, et al. Among authors: de esch c. JCI Insight. 2020 Sep 3;5(17):e138576. doi: 10.1172/jci.insight.138576. JCI Insight. 2020. PMID: 32879135 Free PMC article.
22 results