| Year |
Citation |
Score |
| 2023 |
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, et al. A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome. Scientific Reports. 13: 12984. PMID 37563198 DOI: 10.1038/s41598-023-40037-4 |
0.318 |
|
| 2008 |
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, ... ... Leach NT, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. American Journal of Human Genetics. 82: 712-22. PMID 18319076 DOI: 10.1016/J.Ajhg.2008.01.011 |
0.616 |
|
| 2008 |
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GAP, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, ... ... Leach NT, et al. Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) American Journal of Human Genetics. 83: 425-427. DOI: 10.1016/J.Ajhg.2008.08.011 |
0.558 |
|
| 2007 |
Leach NT, Chudoba I, Stewart TV, Holmes LB, Weremowicz S. Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome. American Journal of Medical Genetics. Part A. 143: 1489-93. PMID 17551927 DOI: 10.1002/ajmg.a.31794 |
0.505 |
|
| 2007 |
Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, et al. Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. American Journal of Human Genetics. 80: 792-9. PMID 17357084 DOI: 10.1086/513019 |
0.312 |
|
| 2005 |
Leach NT, Cole SM, Sandstrom DJ, Weremowicz S. A novel pericentric inversion of chromosome 14 involving the rRNA gene cluster. Prenatal Diagnosis. 25: 620-1. PMID 16034815 DOI: 10.1002/pd.1200 |
0.496 |
|
| 2004 |
Leach NT, Jackson-Cook C. Micronuclei with multiple copies of the X chromosome: Do chromosomes replicate in micronuclei? Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 554: 89-94. PMID 15450407 DOI: 10.1016/J.Mrfmmm.2004.03.004 |
0.653 |
|
| 2004 |
Leach NT, Rehder C, Jensen K, Holt S, Jackson-Cook C. Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy Mechanisms of Ageing and Development. 125: 563-573. PMID 15336914 DOI: 10.1016/J.Mad.2004.06.006 |
0.598 |
|
| 2003 |
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, ... ... Leach NT, et al. Human chromosome 7: DNA sequence and biology. Science (New York, N.Y.). 300: 767-72. PMID 12690205 DOI: 10.1126/Science.1083423 |
0.468 |
|
| 2001 |
Leach NT, Jackson-Cook C. The application of spectral karyotyping (SKY) and fluorescent in situ hybridization (FISH) technology to determine the chromosomal content(s) of micronuclei Mutation Research - Genetic Toxicology and Environmental Mutagenesis. 495: 11-19. PMID 11448638 DOI: 10.1016/S1383-5718(01)00194-2 |
0.599 |
|
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