A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report von Wilke, Matheus V. M. B., Schimmenti, Lisa, Lopour, Madeline Q. R., Tollefson, Megha M., Klee, Eric W.

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Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy von Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele B., Gus, Rejane, Netto, Alice B. O., Brusius‐Facchin, Ana Carolina, Leistner‐Segal, Sandra, Sanseverino, Maria Teresa, Souza, Carolina Moura Fischinger de, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto

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Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases von Wilke, Matheus V M B, Klee, Eric W, Dhamija, Radhika, Fervenza, Fernando C, Thomas, Brittany, Leung, Nelson, Hogan, Marie C, Hager, Megan M, Kolbert, Kayla J, Kemppainen, Jennifer L, Loftus, Elle C, Leitzen, Katie M, Vitek, Carolyn R, McAllister, Tammy, Lazaridis, Konstantinos N, Pinto E Vairo, Filippo

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Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 von Wilke, Matheus V M B, Dornelles, Alícia D, Schuh, Artur S, Vairo, Filippo P, Basgalupp, Suelen P, Siebert, Marina, Nalin, Tatiele, Piltcher, Otavio B, Schwartz, Ida V D

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Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA -Associated Cardiocutaneous Progeria Syndrome von Wilke, Matheus V M B, Wick, Myra, Schwab, Tanya L, Starosta, Rodrigo Tzovenos, Clark, Karl J, Connolly, Heidi M, Klee, Eric W

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Evaluation of the frequency of pre-motor symptoms of Parkinson disease in adult patients with type 1 Gaucher disease von Wilke, Matheus V.M.B., Dorneles, Alicia D., Schuh, Artur S., Vairo, Filippo P., Nalin, Tatiele, Tonon, Tassia, Schwartz, Ida V.D.

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Two different presentations of de novo variants of CSNK2B: two case reports von Wilke, Matheus V M B, Oliveira, Bibiana M, Pereira, Alessandra, Doriqui, Maria Juliana R, Kok, Fernando, Souza, Carolina F M

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Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report von Wilke, Matheus V. M. B., Morava-Kozicz, Eva, Koster, Matthew J., Schmitz, Christopher T., Foster, Shannon Kaye, Patnaik, Mrinal, Warrington, Kenneth J., Klee, Eric W., Pinto e Vairo, Filippo

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