| Structural variation in the human genome and its role in disease P Stankiewicz, JR Lupski Annual review of medicine 61, 437-455, 2010 | 1488 | 2010 |
| Genome architecture, rearrangements and genomic disorders P Stankiewicz, JR Lupski TRENDS in Genetics 18 (2), 74-82, 2002 | 1157 | 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 | 913 | 2010 |
| Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes JR Lupski, P Stankiewicz PLoS genetics 1 (6), e49, 2005 | 704 | 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 | 669 | 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 | 590 | 2010 |
| Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements P Liu, A Erez, SCS Nagamani, SU Dhar, KE Kołodziejska, ... Cell 146 (6), 889-903, 2011 | 464 | 2011 |
| 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 | 447 | 2007 |
| Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ... The American Journal of Human Genetics 84 (6), 780-791, 2009 | 440 | 2009 |
| 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 | 411 | 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 | 379 | 2002 |
| Somatic mosaicism: implications for disease and transmission genetics IM Campbell, CA Shaw, P Stankiewicz, JR Lupski Trends in Genetics 31 (7), 382-392, 2015 | 299 | 2015 |
| 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 | 277 | 2010 |
| Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ... The American Journal of Human Genetics 95 (2), 173-182, 2014 | 276 | 2014 |
| 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 | 270 | 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 | 258 | 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 | 254 | 2007 |
| 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 | 252 | 2007 |
| 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 | 222 | 2009 |
| Alveolar capillary dysplasia NB Bishop, P Stankiewicz, RH Steinhorn American journal of respiratory and critical care medicine 184 (2), 172-179, 2011 | 219 | 2011 |
