| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster T Sahoo, D Del Gaudio, JR German, M Shinawi, SU Peters, RE Person, ... Nature genetics 40 (6), 719-721, 2008 | 670 | 2008 |
| 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 | 663 | 2008 |
| Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1) T Sahoo, EW Johnson, JW Thomas, PM Kuehl, TL Jones, CG Dokken, ... Human molecular genetics 8 (12), 2325-2333, 1999 | 408 | 1999 |
| Paternally inherited microdeletion at 15q11. 2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome AL Duker, BC Ballif, EV Bawle, RE Person, S Mahadevan, S Alliman, ... European Journal of Human Genetics 18 (11), 1196-1201, 2010 | 344 | 2010 |
| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11. 23 Williams-Beuren syndrome region JS Berg, N Brunetti-Pierri, SU Peters, SHL Kang, CT Fong, J Salamone, ... Genetics in Medicine 9 (7), 427-441, 2007 | 269 | 2007 |
| 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 | 257 | 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 | 253 | 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 | 249 | 2007 |
| Increased LIS1 expression affects human and mouse brain development W Bi, T Sapir, OA Shchelochkov, F Zhang, MA Withers, JV Hunter, T Levy, ... Nature genetics 41 (2), 168-177, 2009 | 245 | 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 | 220 | 2009 |
| 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 | 207 | 2006 |
| A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A Y Jiang, T Sahoo, RC Michaelis, D Bercovich, J Bressler, CD Kashork, ... American journal of medical genetics Part A 131 (1), 1-10, 2004 | 197 | 2004 |
| Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges T Sahoo, N Dzidic, MN Strecker, S Commander, MK Travis, C Doherty, ... Genetics in medicine 19 (1), 83-89, 2017 | 187 | 2017 |
| 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 | 176 | 2008 |
| Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 SCS Nagamani, A Erez, J Shen, C Li, E Roeder, S Cox, L Karaviti, ... European Journal of Human Genetics 18 (3), 278-284, 2010 | 167 | 2010 |
| Cerebral folate deficiency with developmental delay, autism, and response to folinic acid P Moretti, T Sahoo, K Hyland, T Bottiglieri, S Peters, D Del Gaudio, B Roa, ... Neurology 64 (6), 1088-1090, 2005 | 165 | 2005 |
| 22q13. 3 deletion syndrome: clinical and molecular analysis using array CGH SU Dhar, D Del Gaudio, JR German, SU Peters, Z Ou, PI Bader, JS Berg, ... American journal of medical genetics Part A 152 (3), 573-581, 2010 | 163 | 2010 |
| Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases L Shao, CA Shaw, XY Lu, T Sahoo, CA Bacino, SR Lalani, P Stankiewicz, ... American journal of medical genetics Part A 146 (17), 2242-2251, 2008 | 160 | 2008 |
| A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations JK Gentile, WH Tan, LT Horowitz, CA Bacino, SA Skinner, ... Journal of Developmental & Behavioral Pediatrics 31 (7), 592-601, 2010 | 156 | 2010 |
| Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders JA Rosenfeld, BC Ballif, BS Torchia, T Sahoo, JB Ravnan, R Schultz, ... Genetics in Medicine 12 (11), 694-702, 2010 | 150 | 2010 |
