McDonald, Marie T

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Journal Article

Beaman, M Makenzie; Guidugli, Lucia; Hammer, Monia; Barrows, Chelsea; Gregor, Anne; Lee, Sangmoon; Deak, Kristen L; McDonald, Marie T; Jensen, Courtney; Zaki, Maha S; Masri, Amira T; Hobbs, Charlotte A; Gleeson, Joseph G; Cohen, Jennifer L (2023). Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American journal of medical genetics. Part A, 191(11), pp. 2757-2767. Wiley 10.1002/ajmg.a.63363

Nota, Benjamin; Struys, Eduard A; Pop, Ana; Jansen, Erwin E; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; Kranendijk, Martijn; van Dooren, Silvy J M; Bevova, Marianna R; Sistermans, Erik A; Nieuwint, Aggie W M; Barth, Magalie; Ben-Omran, Tawfeg; Hoffmann, Georg F; de Lonlay, Pascale; McDonald, Marie T; Meberg, Alf; Muntau, Ania C; Nuoffer, Jean-Marc; Parini, Rossella; ... (2013). Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. American journal of human genetics, 92(4), pp. 627-31. New York, N.Y.: Cell Press 10.1016/j.ajhg.2013.03.009

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