Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity? by Claudia Fuchs, Peter A. C. ‘t Hoen, Annelieke R. Müller, Annelieke R. Müller, Annelieke R. Müller, Friederike Ehrhart, Clara D. M. Van Karnebeek, Clara D. M. Van Karnebeek, Clara D. M. Van Karnebeek

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NAD+ homeostasis in human health and disease by Rubén Zapata‐Pérez, Ronald J A Wanders, Clara D M van Karnebeek, Riekelt H Houtkooper

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Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 by Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto

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Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9 by Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto

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Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis by Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto

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All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency by Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, Karen Usdin

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Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing) by Elise A. Ferreira, Elise A. Ferreira, Mark J. N. Buijs, Mark J. N. Buijs, Robin Wijngaard, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Machteld M. Oud, Machteld M. Oud, Frédéric M. Vaz, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld

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Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH by Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Antonia Ribes, Nael Nadif Kasri, Alejandro Garanto

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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial by Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava

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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum by Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

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Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy by Phillip A. Richmond, Frans van der Kloet, Frans van der Kloet, Frederic M. Vaz, Frederic M. Vaz, David Lin, Anuli Uzozie, Anuli Uzozie, Emma Graham, Michael Kobor, Sara Mostafavi, Perry D. Moerland, Philipp F. Lange, Philipp F. Lange, Antoine H. C. van Kampen, Antoine H. C. van Kampen, Wyeth W. Wasserman, Marc Engelen, Marc Engelen, Stephan Kemp, Stephan Kemp, Stephan Kemp, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

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Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines by Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg

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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app by Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek

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Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan by Muhammad Wasim, Muhammad Wasim, Haq Nawaz Khan, Haq Nawaz Khan, Hina Ayesha, Susanna M. I. Goorden, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli Rabbi Awan, Fazli Rabbi Awan

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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review by Annelieke R. Müller, Erik Boot, Stijn B. Notermans, Carlo Schuengel, Lidewij Henneman, Martina C. Cornel, Mieke M. van Haelst, Mariëlle Alders, Clara D. M. van Karnebeek, Bas Bijl, Frits A. Wijburg, Agnies M. van Eeghen

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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy by Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy by Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath

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The malate-aspartate shuttle is important for de novo serine biosynthesis by Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy by Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Tanya N. Nelson, Corneliu Bolbocean, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases by Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic

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