A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 308 | 2023 |
Recombination between heterologous human acrocentric chromosomes A Guarracino, S Buonaiuto, LG de Lima, T Potapova, A Rhie, S Koren, ... Nature 617 (7960), 335-343, 2023 | 37 | 2023 |
LAMC2 marks a tumor-initiating cell population with an aggressive signature in pancreatic cancer DD Cave, S Buonaiuto, B Sainz Jr, M Fantuz, M Mangini, A Carrer, ... Journal of Experimental & Clinical Cancer Research 41 (1), 315, 2022 | 22 | 2022 |
Gaps and complex structurally variant loci in phased genome assemblies D Porubsky, MR Vollger, WT Harvey, AN Rozanski, P Ebert, G Hickey, ... Genome research 33 (4), 496-510, 2023 | 18 | 2023 |
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest A Capalbo, S Buonaiuto, M Figliuzzi, G Damaggio, L Girardi, S Caroselli, ... Reproductive BioMedicine Online 45 (3), 508-518, 2022 | 6 | 2022 |
A Draft Human Pangenome Reference. bioRxiv 2022.07. 09.499321 WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... | 5 | 2022 |
Prioritization of putatively detrimental variants in euploid miscarriages S Buonaiuto, ID Biase, V Aleotti, A Ravaei, AD Marino, G Damaggio, ... Scientific Reports 12 (1), 1997, 2022 | 4 | 2022 |
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome HJ Lee, SU Greer, DS Pavlichin, B Zhou, AE Urban, T Weissman, ... Cell Reports Methods 3 (8), 2023 | 2 | 2023 |
A standardized approach for case selection and genomic data analysis of maternal exomes for the diagnosis of oocyte maturation and early embryonic developmental arrest in IVF A Capalbo, S Buonaiuto, M Figliuzzi, G Damaggio, L Girardi, S Caroselli, ... MedRxiv, 2021.12. 09.21266949, 2021 | 2 | 2021 |
Insight into Nephrocan Function in Mouse Endoderm Patterning M Addeo, S Buonaiuto, I Guerriero, E Amendola, F Visconte, A Marino, ... International Journal of Molecular Sciences 21 (1), 8, 2019 | 2 | 2019 |
Genomics analysis of maternal exomes reveals new candidate genes and pathways for the diagnosis and prediction of recurrent preimplantation embryo arrest in IVF cycles S Kahraman, FG Sagir, B Yuksel, M Cetinkaya, M Gavaz, B Kara, M Yesil, ... Fertility and Sterility 114 (3), e238, 2020 | 1 | 2020 |
Predictive medicine in a testis trio‐family through a combined multi‐omics approach F Di Maggio, G Damaggio, M Nunziato, S Buonaiuto, F Crocetto, ... Clinical and Translational Medicine 14 (4), 2024 | | 2024 |
Parental whole-exome sequencing allows the discovery of genetic causes of extreme IVF phenotypes such as oocyte/embryo developmental arrest and recurrent low fertilization A Capalbo, S Buonaiuto, G Damaggio, M Cetinkaya, B Yuksel, C Simon, ... HUMAN REPRODUCTION 36, 44-44, 2021 | | 2021 |
O-115 Parental whole-exome sequencing allows the discovery of genetic causes of extreme IVF phenotypes such as oocyte/embryo developmental arrest and recurrent low fertilization A Capalbo, S Buonaiuto, G Damaggio, M Cetinkaya, B Yuksel, C Simón, ... Human Reproduction 36 (Supplement_1), deab126. 024, 2021 | | 2021 |
Abstract PO-048: Lack of L1CAM increases tumorigenicity, stemness and tumor fibrosis in pancreatic ductal adenocarcinoma DD Cave, S Buonaiuto, V Colonna, E Lonardo Cancer Research 80 (22_Supplement), PO-048-PO-048, 2020 | | 2020 |
Lack of L1CAM increases tumorigenicity, stemness and tumor fibrosis in pancreatic ductal adenocarcinoma D Delle Cave, S Buonaiuto, V Colonna, E Lonardo CANCER RESEARCH 80 (22), 2020 | | 2020 |