Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction von LaConte, Leslie E. W., Chavan, Vrushali, Elias, Abdallah F., Hudson, Cynthia, Schwanke, Corbin, Styren, Katie, Shoof, Jonathan, Kok, Fernando, Srivastava, Sarika, Mukherjee, Konark

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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease von Friederich, Marisa W., Elias, Abdallah F., Kuster, Alice, Laugwitz, Lucia, Larson, Austin A., Landry, Aaron P., Ellwood‐Digel, Logan, Mirsky, David M., Dimmock, David, Haven, Jaclyn, Jiang, Hua, MacLean, Kenneth N., Styren, Katie, Schoof, Jonathan, Goujon, Louise, Lefrancois, Thomas, Friederich, Maike, Coughlin, Curtis R., Banerjee, Ruma, Haack, Tobias B., Van Hove, Johan L. K.

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Pathogenic variants inSQORencoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease von Friederich, Marisa W., Elias, Abdallah F., Kuster, Alice, Laugwitz, Lucia, Larson, Austin A., Landry, Aaron P., Ellwood-Digel, Logan, Mirsky, David M., Dimmock, David, Haven, Jaclyn, Jiang, Hua, MacLean, Kenneth N., Styren, Katie, Schoof, Jonathan, Goujon, Louise, Lefrancois, Thomas, Friederich, Maike, Coughlin, Curtis R., Banerjee, Ruma, Haack, Tobias B., Van Hove, Johan L. K.

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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome von Johnson, John P., Beischel, Linda, Schwanke, Corbin, Styren, Katie, Crunk, Amy, Schoof, Jonathan, Elias, Abdallah F.

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