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Edward Formaini

Edward Formaini

Role
Senior Computational Scientist

Selected publications

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  • 2026
    MedRxiv : The Preprint Server for Health Sciences10.64898/2026.03.27.26345228

    -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

    Daniel G Calame, Emma K Wiener, Francesco Gavazzi, Anjana Sevagamoorthy, Amy Pizzino, Kaley Arnold, Carlos Dominguez Gonzalez, Tejas Jammihal, Mariko Bennett, Laura Adang, Sarah Woidill, Matthew T Whitehead, Arastoo Vossough, Russell D'Aiello, Asako Takanohashi, Janhavi Lele, Cas Simons, Rocio Rius, Edward Formaini, Kathleen E Sullivan, Milena Andzelm, Darius Ebrahimi-Fakhari, Catherine Otten, Stephen Wong, Thomas Reynolds, Raphael Schiffmann, Nicole I Wolf, Quinten Waisfisz, Jikke-Mien Niermeijer, Danielle DeMarzo, Moez Dawood, Mira Gandhi, Jesse M Levine, Ivan K Chinn, Kristen Fisher, Lisa Emrick, Chadi Al Alam, Rauan Kaiyrzhanov, Reza Maroofian, Henry Houlden, Shalini N Jhangiani, Heer H Mehta, Donna M Muzny, Fritz J Sedlazeck, Jennifer E Posey, James R Lupski, Richard A Gibbs, Ramakrishnan Rajagopalan, Adeline Vanderver
  • 2026
    European Journal of Human Genetics : EJHG10.1038/s41431-026-02086-x

    Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.

    Lucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, Lachlan S W Knight, Giorgina Maxwell, Andrew Dubowsky, Ridia Lim, Edward Formaini, Matthew Welland, Cas Simons, Daniel G MacArthur, Janey L Wiggs, Jamie E Craig, Owen M Siggs
  • 2025
    MedRxiv : The Preprint Server for Health Sciences10.1101/2025.06.05.25327661

    Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating from a conserved enhancer locus.

    Lucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, Lachlan S W Knight, Giorgina Maxwell, Andrew Dubowsky, Ridia Lim, Edward Formaini, Matthew Welland, Cas Simons, Daniel G MacArthur, Janey L Wiggs, Jamie E Craig, Owen M Siggs