Intellectual disability is associated with increased runs of homozygosity in simplex autism ED Gamsiz, EW Viscidi, AM Frederick, S Nagpal, SJ Sanders, MT Murtha, ... The American Journal of Human Genetics 93 (1), 103-109, 2013 | 85 | 2013 |
Autism heterogeneity in a densely sampled US population: Results from the first 1,000 participants in the RI‐CART study CEB McCormick, BC Kavanaugh, D Sipsock, G Righi, LM Oberman, ... Autism Research 13 (3), 474-488, 2020 | 53 | 2020 |
Genome-wide transcriptome analysis in murine neural retina using high-throughput RNA sequencing ED Gamsiz, Q Ouyang, M Schmidt, S Nagpal, EM Morrow Genomics 99 (1), 44-51, 2012 | 44 | 2012 |
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein MF Pescosolido, M Schwede, AJ Harrison, M Schmidt, ED Gamsiz, ... Journal of medical genetics 51 (9), 587-589, 2014 | 42 | 2014 |
Discovery of rare mutations in autism: elucidating neurodevelopmental mechanisms ED Gamsiz, LN Sciarra, AM Maguire, MF Pescosolido, LI van Dyck, ... Neurotherapeutics 12 (3), 553-571, 2015 | 38 | 2015 |
Distribution of disease-associated copy number variants across distinct disorders of cognitive development MF Pescosolido, ED Gamsiz, S Nagpal, EM Morrow Journal of the American Academy of Child & Adolescent Psychiatry 52 (4), 414 …, 2013 | 38 | 2013 |
Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders AJ Harrison, ED Gamsiz, IC Berkowitz, S Nagpal, BA Jerskey American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015 | 36 | 2015 |
Predicting the effect of fed-state intestinal contents on drug dissolution ED Gamsiz, M Ashtikar, J Crison, W Woltosz, MB Bolger, RL Carrier Pharmaceutical research 27, 2646-2656, 2010 | 33 | 2010 |
A model predicting delivery of saquinavir in nanoparticles to human monocyte/macrophage (Mo/Mac) cells D Ece Gamsiz, LK Shah, H Devalapally, MM Amiji, RL Carrier Biotechnology and bioengineering 101 (5), 1072-1082, 2008 | 29 | 2008 |
Modeling the influence of cyclodextrins on oral absorption of low‐solubility drugs: I. Model development ED Gamsiz, L Miller, AG Thombre, I Ahmed, RL Carrier Biotechnology and bioengineering 105 (2), 409-420, 2010 | 28 | 2010 |
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies SB Lizarraga, L Ma, AM Maguire, LI van Dyck, Q Wu, Q Ouyang, ... Science translational medicine 13 (580), eaaw0682, 2021 | 27 | 2021 |
Mixed neurodevelopmental and neurodegenerative pathology in Nhe6-null mouse model of Christianson syndrome M Xu, Q Ouyang, J Gong, MF Pescosolido, BS Pruett, S Mishra, ... eneuro 4 (6), 2017 | 27 | 2017 |
Somatic mutations in collagens are associated with a distinct tumor environment and overall survival in gastric cancer AS Brodsky, J Khurana, KS Guo, EY Wu, D Yang, AS Siddique, IY Wong, ... BMC cancer 22 (1), 139, 2022 | 20 | 2022 |
Modeling the influence of cyclodextrins on oral absorption of low solubility drugs: II. Experimental validation ED Gamsiz, L Miller, AG Thombre, RL Carrier Biotechnology and Bioengineering 105 (2), 421-430, 2010 | 18 | 2010 |
Drug salts and solubilization: modeling the influence of cyclodextrins on oral absorption ED Gamsiz, AG Thombre, I Ahmed, RL Carrier Annals of biomedical engineering 39, 455-468, 2011 | 15 | 2011 |
Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder CS Leung, SJ Rosenzweig, B Yoon, NA Marinelli, EW Hollingsworth, ... Human molecular genetics 32 (10), 1634-1646, 2023 | 11 | 2023 |
LYRUS: a machine learning model for predicting the pathogenicity of missense variants J Lai, J Yang, ED Gamsiz Uzun, BM Rubenstein, IN Sarkar Bioinformatics Advances 2 (1), vbab045, 2022 | 10 | 2022 |
Clinical features of patients with MTAP-deleted bladder cancer AL De Souza, AE Mega, J Douglass, AJ Olszewski, EDG Uzun, A Uzun, ... American Journal of Cancer Research 13 (1), 326, 2023 | 9 | 2023 |
Inferring gender from first names: Comparing the accuracy of Genderize, Gender API, and the gender R package on authors of diverse nationality AD VanHelene, I Khatri, CB Hilton, S Mishra, ED Gamsiz Uzun, JL Warner PLOS Digital Health 3 (10), e0000456, 2024 | 8 | 2024 |
Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup NA Walton, R Nagarajan, C Wang, M Sincan, RR Freimuth, DB Everman, ... Journal of the American Medical Informatics Association 31 (2), 536-541, 2024 | 6 | 2024 |