Collins R, Talkowski M
Nat Rev Genet. 2025; .
PMID: 39838028
DOI: 10.1038/s41576-024-00808-9.
Mahmoud A, Prodoehl J, Echeverry-Martinez M, Horwitz D
Hip Pelvis. 2024; 36(4):281-289.
PMID: 39620569
PMC: 11638755.
DOI: 10.5371/hp.2024.36.4.281.
Koeppel J, Weller J, Vanderstichele T, Parts L
Nat Genet. 2024; 56(12):2623-2635.
PMID: 39533047
DOI: 10.1038/s41588-024-01981-7.
Dunn T, Zook J, Holt J, Narayanasamy S
Genome Biol. 2024; 25(1):253.
PMID: 39358801
PMC: 11446017.
DOI: 10.1186/s13059-024-03394-5.
Khurana S, Khalifa A, Rezallah N, Lozanoff S, Abdelkarim A
J Clin Med. 2024; 13(13).
PMID: 38999474
PMC: 11242842.
DOI: 10.3390/jcm13133908.
The role of Down syndrome cell adhesion molecule in Down syndrome.
Hergenreder T, Yang T, Ye B
Med Rev (2021). 2024; 4(1):31-41.
PMID: 38515781
PMC: 10954295.
DOI: 10.1515/mr-2023-0056.
The role of structural variations in Alzheimer's disease and other neurodegenerative diseases.
Wang H, Wang L, Schellenberg G, Lee W
Front Aging Neurosci. 2023; 14:1073905.
PMID: 36846102
PMC: 9944073.
DOI: 10.3389/fnagi.2022.1073905.
Prenatal and Postnatal Therapies for Down's Syndrome and Associated Developmental Anomalies and Degenerative Deficits: A Systematic Review of Guidelines and Trials.
Hasina Z, Wang C
Front Med (Lausanne). 2022; 9:910424.
PMID: 35865169
PMC: 9294288.
DOI: 10.3389/fmed.2022.910424.
Developmental deficits and staging of dynamics of age associated Alzheimer's disease neurodegeneration and neuronal loss in subjects with Down syndrome.
Wegiel J, Flory M, Kuchna I, Nowicki K, Wegiel J, Ma S
Acta Neuropathol Commun. 2022; 10(1):2.
PMID: 34983655
PMC: 8728914.
DOI: 10.1186/s40478-021-01300-9.
Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes.
Lana-Elola E, Cater H, Watson-Scales S, Greenaway S, Muller-Winkler J, Gibbins D
Dis Model Mech. 2021; 14(10).
PMID: 34477842
PMC: 8543064.
DOI: 10.1242/dmm.049157.
Discovery of genomic variation across a generation.
Trost B, Loureiro L, Scherer S
Hum Mol Genet. 2021; 30(R2):R174-R186.
PMID: 34296264
PMC: 8490016.
DOI: 10.1093/hmg/ddab209.
Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions.
Mulle J, Sullivan P, Hjerling-Leffler J
Curr Opin Genet Dev. 2021; 68:iii-ix.
PMID: 34059379
PMC: 8722467.
DOI: 10.1016/j.gde.2021.05.002.
Genome diversity and instability in human germ cells and preimplantation embryos.
Shukla V, Hoffding M, Hoffmann E
Semin Cell Dev Biol. 2021; 113:132-147.
PMID: 33500205
PMC: 8097364.
DOI: 10.1016/j.semcdb.2020.12.007.
Variations in chromosomal aneuploidy rates in IVF blastocysts and early spontaneous abortion chorionic villi.
Zhang X, Wang Y, Zhao N, Liu P, Huang J
J Assist Reprod Genet. 2020; 37(3):527-537.
PMID: 31903515
PMC: 7125276.
DOI: 10.1007/s10815-019-01682-9.
Transcriptional activation of USP16 gene expression by NFκB signaling.
Yang S, Wang J, Guo S, Huang D, Lorigados I, Nie X
Mol Brain. 2020; 12(1):120.
PMID: 31888715
PMC: 6937840.
DOI: 10.1186/s13041-019-0535-3.
Verb production by individuals with Down syndrome during narration.
Loveall S, Channell M, Abbeduto L, Conners F
Res Dev Disabil. 2018; 85:82-91.
PMID: 30500721
PMC: 6326887.
DOI: 10.1016/j.ridd.2018.11.007.
Aging With Down Syndrome: The Dual Diagnosis: Alzheimer's Disease and Down Syndrome.
Cipriani G, Danti S, Carlesi C, Fiorino M
Am J Alzheimers Dis Other Demen. 2018; 33(4):253-262.
PMID: 29504408
PMC: 10852513.
DOI: 10.1177/1533317518761093.
2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.
Cox N
Am J Hum Genet. 2018; 102(3):342-349.
PMID: 29499157
PMC: 5985363.
DOI: 10.1016/j.ajhg.2018.02.006.
Systematic Functional Characterization of Human 21st Chromosome Orthologs in .
Nordquist S, Smith S, Pierce J
G3 (Bethesda). 2018; 8(3):967-979.
PMID: 29367452
PMC: 5844316.
DOI: 10.1534/g3.118.200019.
Tri-directional anaphases as a novel chromosome segregation defect in human oocytes.
Haverfield J, Dean N, Noel D, Remillard-Labrosse G, Paradis V, Kadoch I
Hum Reprod. 2017; 32(6):1293-1303.
PMID: 28449121
PMC: 5437363.
DOI: 10.1093/humrep/dex083.