The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role von Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita

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The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder von Tiemens, Dagmar K, Kleimeier, Lotte, Leenders, Erika, Wingbermühle, Ellen, Roelofs, Renee L, Sibbles, Barbara, Oostwegel, Floor S M, Vroonland, Eva, van Leeuwen, Conny, Niessen, Hanneke, Sonnega, Paul, Duursma, Anniek, Willemsen, Michel A A P, Draaisma, Jos M T, Pittens, Carina A C M

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Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review von Orriëns, Lynn B., van Hulst, Karen, van der Burg, Jan J. W., van den Hoogen, Frank J. A., Willemsen, Michèl A. A. P., Erasmus, Corrie E.

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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications von Schobers, Gaby, Schieving, Jolanda H, Yntema, Helger G, Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G, Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P, Vissers, Lisenka E. L. M

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Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism von van Outersterp, Rianne E., Kooijman, Pieter C., Merx, Jona, Engelke, Udo F.H., Omidikia, Nematollah, Tonneijck, Mei-Lan H., Houthuijs, Kas J., Berden, Giel, Peters, Tessa M.A., Lefeber, Dirk J., Willemsen, Michel A. A. P., Mecinovic, Jasmin, Jansen, Jeroen J., Coene, Karlien L.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan

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How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques von Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., Karnebeek, Clara D. M.

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Predicting non‐response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities von Orriëns, Lynn B., Hulst, Karen, Willemsen, Michèl A. A. P., Hoogen, Frank J. A., Erasmus, Corrie E.

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Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial von Verhaegh, Anke P. M., Groen, Brenda E., Aarts, Pauline B. M., van Ee, Raymond, Willemsen, Michèl A. A. P., Jongsma, Marijtje L. A., Nijhuis-van der Sanden, Maria W. G.

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Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation von Houwen‐van Opstal, Saskia L. S., Heutinck, Lotte, Jansen, Merel, Krom, Yvonne D., Cup, Edith H. C., Hendriksen, Jos G. M., Willemsen, Michel A. A. P., Verschuuren, Jan J. G. M., Niks, Erik H., Groot, Imelda J. M.

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Clinical practice: Swallowing problems in cerebral palsy von Erasmus, Corrie E., van Hulst, Karen, Rotteveel, Jan J., Willemsen, Michel A. A. P., Jongerius, Peter H.

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Sjögren–Larsson syndrome in clinical practice von Fuijkschot, Joris, Theelen, Thomas, Seyger, Marieke M. B., van der Graaf, Marinette, de Groot, Imelda J. M., Wevers, Ron A., Wanders, Ronald J. A., Waterham, Hans R., Willemsen, Michèl A. A. P.

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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding von Samkar, Anusha, Leen, Willemijn G., Willemsen, Michèl A. A. P., Verrips, Aad

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Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene von WILLEMSEN, Michel A. A. P, BREEDVELD, Guido J, WOUDA, Siep, OTTEN, Barto J, YNTEMA, Jan L, LAMMENS, Martin, DE VRIES, Bert B. A

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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective von Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Reintjes, Joris T. G., Roullet, Jean‐Baptiste, Broekman, Sanne, Vrieze, Erik, Wijk, Erwin, Wamelink, Mirjam M. C., Artuch, Rafael, Barić, Ivo, Merx, Jona, Boltje, Thomas J., Martens, Jonathan, Willemsen, Michèl A. A. P., Verbeek, Marcel M., Wevers, Ron A., Gibson, K. Michael, Coene, Karlien L. M.

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MR Imaging and Proton MR Spectroscopic Studies in Sjogren-Larsson Syndrome: Characterization of the Leukoencephalopathy von Willemsen, Michel A. A. P, van der Graaf, Marinette, van der Knaap, Marjo S, Heerschap, Arend, van Domburg, Peter H. M. F, Gabreels, Fons J. M, Rotteveel, Jan J

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Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles von Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.

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Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit von Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, Boer, Siebolt, Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.

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Classic ataxia-telangiectasia: the phenotype of long-term survivors von van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.

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Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia von Blom, Maartje, Schoenaker, Michiel H D, Hulst, Myrthe, de Vries, Martine C, Weemaes, Corry M R, Willemsen, Michèl A A P, Henneman, Lidewij, van der Burg, Mirjam

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Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations von GLOYN, Anna L, NOORDAM, Kees, MATSCHINSKY, Franz M, HATTERSLEY, Andrew T, WILLEMSEN, Michèl A. A. P, ELLARD, Sian, LAM, Wayne W. K, CAMPBELL, Ian W, MIDGLEY, Paula, SHIOTA, Chyio, BUETTGER, Carol, MAGNUSON, Mark A

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