| Year |
Citation |
Score |
| 2024 |
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Lethal phenotypes in Mendelian disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101141. PMID 38629401 DOI: 10.1016/j.gim.2024.101141 |
0.339 |
|
| 2024 |
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Lethal phenotypes in Mendelian disorders. Medrxiv : the Preprint Server For Health Sciences. PMID 38260283 DOI: 10.1101/2024.01.12.24301168 |
0.393 |
|
| 2020 |
Hudac CM, Bove J, Barber S, Duyzend M, Wallace A, Martin CL, Ledbetter DH, Hanson E, Goin-Kochel RP, Green-Snyder L, Chung WK, Eichler EE, Bernier RA. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Research : Official Journal of the International Society For Autism Research. PMID 32597026 DOI: 10.1002/Aur.2332 |
0.585 |
|
| 2018 |
Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ, Bamshad MJ, Nickerson DA, Bernier RA, et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30504930 DOI: 10.1038/S41436-018-0380-2 |
0.644 |
|
| 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 |
0.739 |
|
| 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 |
0.654 |
|
| 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 |
0.653 |
|
| 2015 |
Turner TN, Hormozdiari F, Duyzend MH, McClymont SA, Hook PW, Iossifov I, Raja A, Baker C, Hoekzema K, Stessman HA, Zody MC, Nelson BJ, Huddleston J, Sandstrom R, Smith JD, et al. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. American Journal of Human Genetics. PMID 26749308 DOI: 10.1016/J.Ajhg.2015.11.023 |
0.741 |
|
| 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 |
0.74 |
|
| 2015 |
Duyzend MH, Eichler EE. Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism". Biological Psychiatry. 77: 769-71. PMID 25843334 DOI: 10.1016/j.biopsych.2015.02.032 |
0.479 |
|
| 2014 |
Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F. Genomic studies in fragile X premutation carriers. Journal of Neurodevelopmental Disorders. 6: 27. PMID 25170347 DOI: 10.1186/1866-1955-6-27 |
0.555 |
|
| 2014 |
Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. American Journal of Human Genetics. 94: 415-25. PMID 24581740 DOI: 10.1016/j.ajhg.2014.02.001 |
0.731 |
|
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