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  1. Salter, Claire G. [Author]; Cai, Yiying [Author]; Lo, Bernice [Author]; Helman, Guy [Author]; Taylor, Henry [Author]; McCartney, Amber [Author]; Leslie, Joseph S [Author]; Accogli, Andrea [Author]; Zara, Federico [Author]; Traverso, Monica [Author]; Fasham, James [Author]; Lees, Joshua A [Author]; Ferla, Matteo P [Author]; Chioza, Barry A [Author]; Wenger, Olivia [Author]; Scott, Ethan [Author]; Cross, Harold E [Author]; Crawford, Joanna [Author]; Warshawsky, Ilka [Author]; Keisling, Matthew [Author]; Agamanolis, Dimitris [Author]; Ward Melver, Catherine [Author]; Cox, Helen [Author]; Elawad, Mamoun [Author]; [...]

    Biallelic PI4KA variants cause neurological, intestinal and immunological disease

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    August 20, 2021

    Published in: Brain ; 144(2021), 12, Seite 3597-3610

  13. Acevedo-Rocha, Carlos G.; Li, Aitao; D’Amore, Lorenzo; Hoebenreich, Sabrina; Sanchis, Joaquin; Lubrano, Paul; Ferla, Matteo P.; Garcia-Borràs, Marc; Osuna, Sílvia; Reetz, Manfred T.

    Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics

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    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications

  15. Gahbauer, Stefan; Correy, Galen J.; Schuller, Marion; Ferla, Matteo P.; Doruk, Yagmur Umay; Rachman, Moira; Wu, Taiasean; Diolaiti, Morgan; Wang, Siyi; Neitz, R. Jeffrey; Fearon, Daren; Radchenko, Dmytro S.; Moroz, Yurii S.; Irwin, John J.; Renslo, Adam R.; Taylor, Jenny C.; Gestwicki, Jason E.; von Delft, Frank; Ashworth, Alan; Ahel, Ivan; Shoichet, Brian K.; Fraser, James S.

    Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2

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    Proceedings of the National Academy of Sciences, 2023

    Published in: Proceedings of the National Academy of Sciences

  16. Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C

    Variable skeletal phenotypes associated with biallelic variants in PRKG2

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    BMJ, 2022

    Published in: Journal of Medical Genetics

  17. Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella; Burkitt‐Wright, Emma; Martin, Hilary C.; Ferla, Matteo P.; Taylor, John M.; Gompertz, Lianne; Lahiri, Nayana; Tatton‐Brown, Katrina; Newbury‐Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Peter D.; McKee, Shane; Forzano, Francesca; Ashraf, Tazeen; Bradbury, Kimberley; Shears, Deborah; Kini, Usha; de Burca, Anna; Blair, Edward; [...]

    Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

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    Wiley, 2019

    Published in: Clinical Genetics

  18. Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary‐Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza‐Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin B.; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; [...]

    Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

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    Wiley, 2021

    Published in: Annals of Clinical and Translational Neurology

  19. Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie; Stapleton, Rachel; Saida, Ken; Matsumoto, Naomichi; Miyake, Noriko; Sheffer, Ruth; Mor-Shaked, Hagar; [...]

    Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

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    BMJ, 2022

    Published in: Journal of Medical Genetics

  20. Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; [...]

    Biallelic PI4KA variants cause neurological, intestinal and immunological disease

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    Oxford University Press (OUP), 2021

    Published in: Brain