| Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants L Pizzo, M Jensen, A Polyak, JA Rosenfeld, K Mannik, A Krishnan, ... Genetics in Medicine 21 (4), 816-825, 2019 | 180 | 2019 |
| A machine-learning approach for accurate detection of copy number variants from exome sequencing VK Pounraja, G Jayakar, M Jensen, N Kelkar, S Girirajan Genome research 29 (7), 1134-1143, 2019 | 47 | 2019 |
| A general framework for identifying oligogenic combinations of rare variants in complex disorders VK Pounraja, S Girirajan Genome research 32 (5), 904-915, 2022 | 18 | 2022 |
| Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis L Pizzo, M Lasser, T Yusuff, M Jensen, P Ingraham, E Huber, MD Singh, ... PLoS genetics 17 (4), e1009112, 2021 | 17 | 2021 |
| A large meta-analysis identifies genes associated with anterior uveitis S Gelfman, A Moscati, SM Huergo, R Wang, V Rajagopal, N Parikshak, ... Nature communications 14 (1), 7300, 2023 | 5 | 2023 |
| Molecular basis for phenotypic similarity of genetic disorders VK Pounraja, S Girirajan Genome Medicine 11 (1), 24, 2019 | 5 | 2019 |
| Genetic modifiers and ascertainment drive variable expressivity of complex disorders M Jensen, C Smolen, A Tyryshkina, L Pizzo, D Banerjee, M Oetjens, ... medRxiv, 2024 | | 2024 |
| Treatment Of Prion Diseases S Gelfman, A Avbersek, S Wolf, A Hawes, G Coppola, M Pounraja, ... US Patent App. 18/535,105, 2024 | | 2024 |
| Computational methods for dissecting the genetic basis of neurodevelopmental disorders M Pounraja, V Kumar | | 2022 |
| Oligogenic combinations of rare variants influence specific phenotypes in complex disorders VK Pounraja, S Girirajan bioRxiv, 2021.10. 01.462832, 2021 | | 2021 |
| The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine L Pizzo, M Jensen, A Tyryshkina, C Smolen, C Taylor, L Rohan, E Huber, ... Molecular Genetics and Metabolism 132, S69-S69, 2021 | | 2021 |
| A general framework for identifying rare variant combinations in complex disorders VK Pounraja, S Girirajan bioRxiv, 2021 | | 2021 |
| Functional assessment of the “two-hit” model for neurodevelopmental defects inDrosophilaandX. laevis L Pizzo, M Lasser, T Yusuff, M Jensen, P Ingraham, E Huber, MD Singh, ... | | 2020 |
