| Structural variation in the human genome and its role in disease P Stankiewicz, JR Lupski Annual review of medicine 61, 437-455, 2010 | 1219 | 2010 |
| Genome architecture, rearrangements and genomic disorders P Stankiewicz, JR Lupski TRENDS in Genetics 18 (2), 74-82, 2002 | 1014 | 2002 |
| Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy JR Lupski, JG Reid, C Gonzaga-Jauregui, D Rio Deiros, DCY Chen, ... New England Journal of Medicine 362 (13), 1181-1191, 2010 | 817 | 2010 |
| Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes JR Lupski, P Stankiewicz PLoS Genet 1 (6), e49, 2005 | 596 | 2005 |
| Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ... Nature genetics 40 (12), 1466-1471, 2008 | 567 | 2008 |
| Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ... Journal of medical genetics 47 (5), 332-341, 2010 | 472 | 2010 |
| Characterization of Potocki-Lupski syndrome (dup (17)(p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype L Potocki, W Bi, D Treadwell-Deering, CMB Carvalho, A Eifert, ... The American Journal of Human Genetics 80 (4), 633-649, 2007 | 392 | 2007 |
| Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation P Stankiewicz, AL Beaudet Current opinion in genetics & development 17 (3), 182-192, 2007 | 384 | 2007 |
| Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia CF Boerkoel, H Takashima, J John, J Yan, P Stankiewicz, L Rosenbarker, ... Nature genetics 30 (2), 215-220, 2002 | 305 | 2002 |
| 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 | 243 | 2010 |
| Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases X Lu, CA Shaw, A Patel, J Li, ML Cooper, WR Wells, CM Sullivan, ... PloS one 2 (3), e327, 2007 | 236 | 2007 |
| Periaxin mutations cause recessive Dejerine-Sottas neuropathy CF Boerkoel, H Takashima, P Stankiewicz, CA Garcia, SM Leber, ... The American Journal of Human Genetics 68 (2), 325-333, 2001 | 234 | 2001 |
| Microdeletion 15q13. 3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders S Ben-Shachar, B Lanpher, JR German, M Qasaymeh, L Potocki, ... Journal of medical genetics 46 (6), 382-388, 2009 | 223 | 2009 |
| Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics SW Cheung, CA Shaw, DA Scott, A Patel, T Sahoo, CA Bacino, A Pursley, ... American Journal of Medical Genetics Part A 143 (15), 1679-1686, 2007 | 205 | 2007 |
| Somatic mosaicism: implications for disease and transmission genetics IM Campbell, CA Shaw, P Stankiewicz, JR Lupski Trends in Genetics 31 (7), 382-392, 2015 | 196 | 2015 |
| Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization T Sahoo, SW Cheung, P Ward, S Darilek, A Patel, D Del Gaudio, ... Genetics in Medicine 8 (11), 719-727, 2006 | 189 | 2006 |
| A small recurrent deletion within 15q13. 3 is associated with a range of neurodevelopmental phenotypes M Shinawi, CP Schaaf, SS Bhatt, Z Xia, A Patel, SW Cheung, B Lanpher, ... Nature genetics 41 (12), 1269-1271, 2009 | 188 | 2009 |
| Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching CMB Carvalho, F Zhang, P Liu, A Patel, T Sahoo, CA Bacino, C Shaw, ... Human molecular genetics 18 (12), 2188-2203, 2009 | 184 | 2009 |
| Molecular-evolutionary mechanisms for genomic disorders P Stankiewicz, JR Lupski Current opinion in genetics & development 12 (3), 312-319, 2002 | 172 | 2002 |
| Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis XY Lu, MT Phung, CA Shaw, K Pham, SE Neil, A Patel, T Sahoo, ... Pediatrics 122 (6), 1310-1318, 2008 | 162 | 2008 |
