A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay by Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.

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KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction by Duis, Jessica, Dean, Shannon, Applegate, Carolyn, Harper, Amy, Xiao, Rui, He, Weimin, Dollar, James D., Sun, Lisa R., Waberski, Marta Biderman, Crawford, Thomas O., Hamosh, Ada, Stafstrom, Carl E.

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Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature by De Graef, Diederik, Mousa, Jehan, Waberski, Marta Biderman, Morava, Eva

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RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability by Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Genomics, Queen Square, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza

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Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature by De Graef, Diederik, Mousa, Jehan, Waberski, Marta Biderman, Morava, Eva

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