Year |
Citation |
Score |
2024 |
Rohm D, Black JB, McCutcheon SR, Barrera A, Morone DJ, Nuttle X, de Esch CE, Tai DJC, Talkowski ME, Iglesias N, Gersbach CA. Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing. Biorxiv : the Preprint Server For Biology. PMID 38496583 DOI: 10.1101/2024.03.03.583177 |
0.395 |
|
2023 |
Nuttle X, Burt ND, Currall B, Moysés-Oliveira M, Mohajeri K, Bhavsar R, Lucente D, Yadav R, Tai DJC, Gusella JF, Talkowski ME. Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries. Cell Reports Methods. 100672. PMID 38091988 DOI: 10.1016/j.crmeth.2023.100672 |
0.331 |
|
2023 |
Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E, Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, et al. Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. Npj Genomic Medicine. 8: 9. PMID 37225732 DOI: 10.1038/s41525-023-00354-z |
0.446 |
|
2023 |
Liao C, Moyses-Oliveira M, De Esch CEF, Bhavsar R, Nuttle X, Li A, Yu A, Burt ND, Erdin S, Fu JM, Wang M, Morley T, Han L, Dion PA, Rouleau GA, et al. Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies. Cell Genomics. 3: 100277. PMID 37082147 DOI: 10.1016/j.xgen.2023.100277 |
0.398 |
|
2022 |
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, et al. Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models. American Journal of Human Genetics. PMID 36152629 DOI: 10.1016/j.ajhg.2022.08.012 |
0.378 |
|
2022 |
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, ... ... Nuttle X, et al. A cross-disorder dosage sensitivity map of the human genome. Cell. PMID 35917817 DOI: 10.1016/j.cell.2022.06.036 |
0.483 |
|
2022 |
Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E, Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, et al. Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. Npj Genomic Medicine. 7: 38. PMID 35715439 DOI: 10.1038/s41525-022-00308-x |
0.629 |
|
2019 |
Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Männik K, De Nittis P, Baratz ED, Herault Y, et al. The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. American Journal of Human Genetics. PMID 31668704 DOI: 10.1016/J.Ajhg.2019.09.023 |
0.563 |
|
2018 |
Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, ... ... Nuttle X, et al. Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis. Cell. 173: 1356-1369.e22. PMID 29856954 DOI: 10.1016/J.Cell.2018.03.051 |
0.613 |
|
2018 |
Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA. Longitudinal report of child with de novo 16p11.2 triplication. Clinical Case Reports. 6: 147-154. PMID 29375855 DOI: 10.1002/Ccr3.1236 |
0.736 |
|
2017 |
Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, ... ... Nuttle X, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1: 69. PMID 28812736 DOI: 10.1038/s41559-016-0069 |
0.817 |
|
2017 |
Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, ... ... Nuttle X, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1. PMID 28580430 DOI: 10.1038/S41559-016-0069 |
0.809 |
|
2017 |
Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE. The birth of a human-specific neural gene by incomplete duplication and gene fusion. Genome Biology. 18: 49. PMID 28279197 DOI: 10.1186/S13059-017-1163-9 |
0.744 |
|
2016 |
Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, et al. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature. PMID 27487209 DOI: 10.1038/Nature19075 |
0.743 |
|
2015 |
Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE. Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. American Journal of Human Genetics. PMID 26749307 DOI: 10.1016/J.Ajhg.2015.11.017 |
0.757 |
|
2014 |
Nuttle X, Itsara A, Shendure J, Eichler EE. Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing. Nature Protocols. 9: 1496-513. PMID 24874815 DOI: 10.1038/Nprot.2014.096 |
0.758 |
|
2013 |
Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nature Methods. 10: 903-9. PMID 23892896 DOI: 10.1038/Nmeth.2572 |
0.805 |
|
2012 |
Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, et al. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell. 149: 912-22. PMID 22559943 DOI: 10.1016/J.Cell.2012.03.033 |
0.812 |
|
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