Przemyslaw Szafranski

Przemyslaw Szafranski

Baylor College of Medicine - Houston / United States
Medical and Health Sciences / Biochemistry
AD Scientific Index ID: 861163
person_outline Przemyslaw Szafranski's MOST POPULAR ARTICLES
1-) Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndromeXL Tian, R Kadaba, SA You, M Liu, AA Timur, L Yang, Q Chen, ...Nature 427 (6975), 640-645, 20043552004
2-) Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersIM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ...The American Journal of Human Genetics 95 (2), 173-182, 20142452014
3-) NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traitsP Dittwald, T Gambin, P Szafranski, J Li, S Amato, MY Divon, LXR Rojas, ...Genome research 23 (9), 1395-1409, 20131442013
4-) 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, 20101512010
5-) Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorderP Szafranski, AV Dharmadhikari, E Brosens, P Gurha, KE Kołodziejska, ...Genome research 23 (1), 23-33, 20131382013