| Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome XL Tian, R Kadaba, SA You, M Liu, AA Timur, L Yang, Q Chen, ... Nature 427 (6975), 640-645, 2004 | 372 | 2004 |
| 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 | 275 | 2014 |
| NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits P Dittwald, T Gambin, P Szafranski, J Li, S Amato, MY Divon, LXR Rojas, ... Genome research 23 (9), 1395-1409, 2013 | 152 | 2013 |
| Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? P Szafranski, CP Schaaf, RE Person, IB Gibson, Z Xia, S Mahadevan, ... Human mutation 31 (7), 840-850, 2010 | 142 | 2010 |
| Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder P Szafranski, AV Dharmadhikari, E Brosens, P Gurha, KE Kołodziejska, ... Genome research 23 (1), 23-33, 2013 | 138 | 2013 |
| Nucleic acid detection methods CL Smith, R Yaar, P Szafranski, CR Cantor US Patent 5,753,439, 1998 | 120 | 1998 |
| Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes Z Ou, P Stankiewicz, Z Xia, AM Breman, B Dawson, J Wiszniewska, ... Genome research 21 (1), 33-46, 2011 | 109 | 2011 |
| Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain P Sen, Y Yang, C Navarro, I Silva, P Szafranski, KE Kolodziejska, ... Human mutation 34 (6), 801-811, 2013 | 108 | 2013 |
| Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav1. 5 L Wu, SL Yong, C Fan, Y Ni, S Yoo, T Zhang, X Zhang, CA Obejero-Paz, ... Journal of biological chemistry 283 (11), 6968-6978, 2008 | 100 | 2008 |
| Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ... Human genetics 135, 569-586, 2016 | 97 | 2016 |
| KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death S Chen, L Zhang, RM Bryant, GM Vincent, M Flippin, JC Lee, E Brown, ... Clinical genetics 63 (4), 273-282, 2003 | 94 | 2003 |
| 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 | 93 | 2015 |
| Basolateral junctions utilize warts signaling to control epithelial-mesenchymal transition and proliferation crucial for migration and invasion of Drosophila ovarian epithelial … M Zhao, P Szafranski, CA Hall, S Goode Genetics 178 (4), 1947-1971, 2008 | 89 | 2008 |
| Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway JA Karolak, M Vincent, G Deutsch, T Gambin, B Cogné, O Pichon, ... The American Journal of Human Genetics 104 (2), 213-228, 2019 | 87 | 2019 |
| Identification and molecular characterization of de novo translocation t (8; 14)(q22. 3; q13) associated with a vascular and tissue overgrowth syndrome Q Wang, AA Timur, P Szafranski, A Sadgephour, V Jurecic, J Cowell, ... Cytogenetics and cell genetics 95 (3-4), 183-188, 2001 | 87 | 2001 |
| Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features P Stankiewicz, TN Khan, P Szafranski, L Slattery, H Streff, F Vetrini, ... The American Journal of Human Genetics 101 (4), 503-515, 2017 | 82 | 2017 |
| Recurrent distal 7q11. 23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems MB Ramocki, M Bartnik, P Szafranski, KE Kołodziejska, Z Xia, J Bravo, ... The American Journal of Human Genetics 87 (6), 857-865, 2010 | 78 | 2010 |
| 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 | 73 | 2013 |
| A new approach for containment of microorganisms: dual control of streptavidin expression by antisense RNA and the T7 transcription system P Szafranski, CM Mello, T Sano, CL Smith, DL Kaplan, CR Cantor Proceedings of the National Academy of Sciences 94 (4), 1059-1063, 1997 | 71 | 1997 |
| Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs P Szafranski, ZH Coban‐Akdemir, R Rupps, S Grazioli, D Wensley, ... American journal of medical genetics Part A 170 (9), 2440-2444, 2016 | 65 | 2016 |
