Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 864 | 2008 |
Singular-value decomposition and the Grassberger-Procaccia algorithm AM Albano, J Muench, C Schwartz, AI Mees, PE Rapp Physical review A 38 (6), 3017, 1988 | 719 | 1988 |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ... Nature genetics 41 (5), 535-543, 2009 | 709 | 2009 |
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ... Nature genetics 40 (3), 322-328, 2008 | 671 | 2008 |
Electron scattering from hydrogen C Schwartz Physical Review 124 (5), 1468, 1961 | 653 | 1961 |
Importance of angular correlations between atomic electrons C Schwartz Physical Review 126 (3), 1015, 1962 | 602 | 1962 |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 575 | 2017 |
Theory of hyperfine structure C Schwartz Physical Review 97 (2), 380, 1955 | 551 | 1955 |
Uniparental paternal disomy in a genetic cancer-predisposing syndrome I Henry, C Bonaiti-Pellie, V Chehensse, C Beldjord, C Schwartz, ... Nature 351 (6328), 665-667, 1991 | 523 | 1991 |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ... Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004 | 510 | 2004 |
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ... Nature genetics 33 (4), 487-491, 2003 | 479 | 2003 |
High frequency of neurexin 1β signal peptide structural variants in patients with autism J Feng, R Schroer, J Yan, W Song, C Yang, A Bockholt, EH Cook Jr, ... Neuroscience letters 409 (1), 10-13, 2006 | 409 | 2006 |
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene CE Schwartz, MM May, NJ Carpenter, RC Rogers, J Martin, MG Bialer, ... The American Journal of Human Genetics 77 (1), 41-53, 2005 | 408 | 2005 |
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative RhoRac guanine nucleotide exchange factor NG Pasteris, A Cadle, LJ Logie, MEM Porteous, CE Schwartz, ... Cell 79 (4), 669-678, 1994 | 384 | 1994 |
X Chromosome–inactivation patterns of 1,005 phenotypically unaffected females JM Amos-Landgraf, A Cottle, RM Plenge, M Friez, CE Schwartz, ... The American Journal of Human Genetics 79 (3), 493-499, 2006 | 381 | 2006 |
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12. 3: the first 2,253 cases F Rousseau, D Heitz, J Tarleton, J MacPherson, H Malmgren, N Dahl, ... American journal of human genetics 55 (2), 225, 1994 | 373 | 1994 |
Calculations in Schrödinger perturbation theory C Schwartz Annals of Physics 6 (2), 156-169, 1959 | 369 | 1959 |
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation RM Plenge, BD Hendrich, C Schwartz, JF Arena, A Naumova, C Sapienza, ... Nature genetics 17 (3), 353-356, 1997 | 353 | 1997 |
Center-of-mass motion in many-particle systems S Gartenhaus, C Schwartz Physical Review 108 (2), 482, 1957 | 341 | 1957 |
5, 10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects CY Ou, RE Stevenson, VK Brown, CE Schwartz, WP Allen, MJ Khoury, ... American journal of medical genetics 63 (4), 610-614, 1996 | 322 | 1996 |