| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 413 | 2017 |
| SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties K Han, JL Holder Jr, CP Schaaf, H Lu, H Chen, H Kang, J Tang, Z Wu, ... Nature 503 (7474), 72-77, 2013 | 372 | 2013 |
| Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome MB Ramocki, SU Peters, YJ Tavyev, F Zhang, CMB Carvalho, CP Schaaf, ... Annals of Neurology: Official Journal of the American Neurological …, 2009 | 331 | 2009 |
| Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism CP Schaaf, ML Gonzalez-Garay, F Xia, L Potocki, KW Gripp, B Zhang, ... Nature genetics 45 (11), 1405-1408, 2013 | 315 | 2013 |
| 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 | 275 | 2010 |
| Quantitative real-time imaging of glutathione X Jiang, J Chen, A Bajić, C Zhang, X Song, SL Carroll, ZL Cai, M Tang, ... Nature communications 8 (1), 16087, 2017 | 228 | 2017 |
| Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway GM Enns, V Shashi, M Bainbridge, MJ Gambello, FR Zahir, T Bast, ... Genetics in Medicine 16 (10), 751-758, 2014 | 225 | 2014 |
| Copy number and SNP arrays in clinical diagnostics CP Schaaf, J Wiszniewska, AL Beaudet Annual review of genomics and human genetics 12, 25-51, 2011 | 225 | 2011 |
| Lessons learned from additional research analyses of unsolved clinical exome cases MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ... Genome medicine 9, 1-15, 2017 | 224 | 2017 |
| Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 221 | 2019 |
| 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 | 213 | 2009 |
| Solving the autism puzzle a few pieces at a time CP Schaaf, HY Zoghbi Neuron 70 (5), 806-808, 2011 | 204 | 2011 |
| USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder YH Hao, MD Fountain, KF Tacer, F Xia, W Bi, SHL Kang, A Patel, ... Molecular cell 59 (6), 956-969, 2015 | 191 | 2015 |
| High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: genotype–phenotype … K Rojnueangnit, J Xie, A Gomes, A Sharp, T Callens, Y Chen, Y Liu, ... Human mutation 36 (11), 1052-1063, 2015 | 189 | 2015 |
| Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders CP Schaaf, A Sabo, Y Sakai, J Crosby, D Muzny, A Hawes, L Lewis, ... Human molecular genetics 20 (17), 3366-3375, 2011 | 186 | 2011 |
| 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 | 151 | 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 |
| Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment N Brunetti-Pierri, AR Paciorkowski, R Ciccone, ED Mina, MC Bonaglia, ... European Journal of Human Genetics 19 (1), 102-107, 2011 | 135 | 2011 |
| YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ... The American Journal of Human Genetics 100 (6), 907-925, 2017 | 133 | 2017 |
| Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans HC Lu, Q Tan, MWC Rousseaux, W Wang, JY Kim, R Richman, YW Wan, ... Nature genetics 49 (4), 527-536, 2017 | 132 | 2017 |
