| Detection of clinically relevant exonic copy‐number changes by array CGH PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ... Human mutation 31 (12), 1326-1342, 2010 | 278 | 2010 |
| Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with> 1000 cases and review of the literature A Breman, AN Pursley, P Hixson, W Bi, P Ward, CA Bacino, C Shaw, ... Prenatal diagnosis 32 (4), 351-361, 2012 | 153 | 2012 |
| Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing J Wiszniewska, W Bi, C Shaw, P Stankiewicz, SHL Kang, AN Pursley, ... European Journal of Human Genetics 22 (1), 79-87, 2014 | 150 | 2014 |
| Structural analysis of the full-length human LRRK2 A Myasnikov, H Zhu, P Hixson, B Xie, K Yu, A Pitre, J Peng, J Sun Cell 184 (13), 3519-3527. e10, 2021 | 126 | 2021 |
| Phenotypic manifestations of copy number variation in chromosome 16p13. 11 SCS Nagamani, A Erez, P Bader, SR Lalani, DA Scott, F Scaglia, SE Plon, ... European Journal of Human Genetics 19 (3), 280-286, 2011 | 123 | 2011 |
| Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination M Startek, P Szafranski, T Gambin, IM Campbell, P Hixson, CA Shaw, ... Nucleic acids research 43 (4), 2188-2198, 2015 | 94 | 2015 |
| Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? W Bi, C Borgan, AN Pursley, P Hixson, CA Shaw, CA Bacino, SR Lalani, ... Genetics in medicine 15 (6), 450-457, 2013 | 88 | 2013 |
| Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype I Saadi, XZ Chen, M Hediger, P Ong, P Pereira, P Goodyer, R Rozen Kidney international 54 (1), 48-55, 1998 | 87 | 1998 |
| Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination IM Campbell, T Gambin, P Dittwald, CR Beck, A Shuvarikov, P Hixson, ... BMC biology 12, 1-10, 2014 | 84 | 2014 |
| Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles PM Boone, IM Campbell, BC Baggett, ZT Soens, MM Rao, PM Hixson, ... Genome research 23 (9), 1383-1394, 2013 | 82 | 2013 |
| Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities SR Lalani, C Shaw, X Wang, A Patel, LW Patterson, K Kolodziejska, ... European Journal of Human Genetics 21 (2), 173-181, 2013 | 75 | 2013 |
| Novel 9q34. 11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A IM Campbell, SA Yatsenko, P Hixson, T Reimschisel, M Thomas, ... Genetics in medicine 14 (10), 868-876, 2012 | 70 | 2012 |
| TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities W Wiszniewski, JV Hunter, NA Hanchard, JR Willer, C Shaw, Q Tian, ... The American Journal of Human Genetics 93 (2), 197-210, 2013 | 65 | 2013 |
| Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44 SCS Nagamani, A Erez, C Bay, A Pettigrew, SR Lalani, K Herman, ... European Journal of Human Genetics 20 (2), 176-179, 2012 | 64 | 2012 |
| Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases J Pham, C Shaw, A Pursley, P Hixson, S Sampath, E Roney, T Gambin, ... European Journal of Human Genetics 22 (8), 969-978, 2014 | 63 | 2014 |
| Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications P Szafranski, S Golla, W Jin, P Fang, P Hixson, R Matalon, D Kinney, ... European Journal of Human Genetics 23 (7), 915-921, 2015 | 48 | 2015 |
| Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: Beyond breakage–fusion–bridge for telomere stabilization SA Yatsenko, P Hixson, EK Roney, DA Scott, CP Schaaf, Y Ng, R Palmer, ... Human genetics 131, 1895-1910, 2012 | 46 | 2012 |
| Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics L Shao, SHL Kang, J Li, P Hixson, J Taylor, SA Yatsenko, CA Shaw, ... The Journal of Molecular Diagnostics 12 (5), 670-679, 2010 | 31 | 2010 |
| Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function SCS Nagamani, A Erez, FJ Probst, P Bader, P Evans, LA Baker, P Fang, ... Neurogenetics 13, 333-339, 2012 | 29 | 2012 |
| Detection of four mutations in six unrelated South African patients with acute intermittent porphyria PML Ong, GW Lanyon, RJ Hift, J Halkett, MR Moore, CS Mgone, ... Molecular and cellular probes 10 (1), 57-61, 1996 | 23 | 1996 |
