Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries
Weile, Jochen, Ferra, Gabrielle, Boyle, Gabriel, Pendyala, Sriram, Amorosi, Clara, Yeh, Chiann-Ling, Cote, Atina G, Kishore, Nishka, Tabet, Daniel, Warren Van Loggerenberg, Ashyad Rayhan, Fowler, Douglas M, Dunham, Maitreya J, Roth, Frederick P
Published in bioRxiv (07.12.2023)
Published in bioRxiv (07.12.2023)
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Journal Article
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Warren Van Loggerenberg, Shahin Sowlati-Hashjin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Fresard, Laure, Mustajoki, Sami, Pischik, Elena, Elena Di Pierro, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C H, Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J, Garton, Michael, Roth, Frederick P
Published in bioRxiv (06.02.2023)
Published in bioRxiv (06.02.2023)
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LARGE-SCALE TESTING OF MISSENSE VARIANT EFFECTS
de Souza, Adrine, Kishore, Nishka, Li, Roujia, Dai, Ziyi, van Loggerenberg, Warren, Rayhan, Ashyad, Tucker, Chandra L., Gebbia, Marinella, Cote, Atina G., Roth, Frederick P.
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
LARGE-SCALE TESTING OF AGXT MISSENSE VARIANT EFFECTS
de Souza, Adrine, Kishore, Nishka, Li, Roujia, Dai, Ziyi, van Loggerenberg, Warren, Rayhan, Ashyad, Tucker, Chandra L., Gebbia, Marinella, Cote, Atina G., Roth, Frederick P.
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries
Weile, Jochen, Ferra, Gabrielle, Boyle, Gabriel, Pendyala, Sriram, Amorosi, Clara, Yeh, Chiann-Ling, Cote, Atina G, Kishore, Nishka, Tabet, Daniel, van Loggerenberg, Warren, Rayhan, Ashyad, Fowler, Douglas M, Dunham, Maitreya J, Roth, Frederick P
Published in Bioinformatics (Oxford, England) (29.03.2024)
Published in Bioinformatics (Oxford, England) (29.03.2024)
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Journal Article
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
Zhang, Jing, Kinch, Lisa, Katsonis, Panagiotis, Lichtarge, Olivier, Jagota, Milind, Song, Yun S., Sun, Yuanfei, Shen, Yang, Kuru, Nurdan, Dereli, Onur, Adebali, Ogun, Alladin, Muttaqi Ahmad, Pal, Debnath, Capriotti, Emidio, Turina, Maria Paola, Savojardo, Castrense, Martelli, Pier Luigi, Babbi, Giulia, Casadio, Rita, Pucci, Fabrizio, Rooman, Marianne, Cia, Gabriel, Tsishyn, Matsvei, Strokach, Alexey, Hu, Zhiqiang, van Loggerenberg, Warren, Roth, Frederick P., Radivojac, Predrag, Brenner, Steven E., Cong, Qian, Grishin, Nick V.
Published in Human genetics (07.08.2024)
Published in Human genetics (07.08.2024)
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Journal Article
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Published in American journal of human genetics (05.10.2023)
Published in American journal of human genetics (05.10.2023)
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Journal Article
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries
Weile, Jochen, Ferra, Gabrielle, Boyle, Gabriel, Pendyala, Sriram, Amorosi, Clara, Yeh, Chiann-Ling, Cote, Atina G, Kishore, Nishka, Tabet, Daniel, van Loggerenberg, Warren, Rayhan, Ashyad, Fowler, Douglas M, Dunham, Maitreya J, Roth, Frederick P
Published in bioRxiv : the preprint server for biology (07.12.2023)
Get more information
Published in bioRxiv : the preprint server for biology (07.12.2023)
Journal Article
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Pierro, Elena Di, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C H, Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J, Garton, Michael, Roth, Frederick P
Published in bioRxiv : the preprint server for biology (06.02.2023)
Get more information
Published in bioRxiv : the preprint server for biology (06.02.2023)
Journal Article