From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

af Bergsma, Atze J, in ‘t Groen, Stijn LM, Verheijen, Frans W, van der Ploeg, Ans T, Pijnappel, WWM Pim
Udgivet i Mol Ther Nucleic Acids (2016)

Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features

af Parazzini, Cecilia, Arena, Saverio, Marchetti, Lucrezia, Menni, Francesca, Filocamo, Mirella, Verheijen, Frans W., Mancini, Grazia M.S., Triulzi, Fabio, Parini, Rossella
Udgivet i AJNR Am J Neuroradiol (2003)

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

af Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Udgivet 2010

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

af van den Bosch, Jeroen, Oemardien, Linda F., Srebniak, Malgorzata I., Piraud, Monique, Huijmans, Jan G. M., Verheijen, Frans W., Ruijter, George J. G.
Udgivet 2011

Human RAD50 deficiency: Confirmation of a distinctive phenotype

af Ragamin, Aviël, Yigit, Gökhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., de Wit, Marie‐Claire Y., Strom, Tim M., Dörk, Thilo, Wollnik, Bernd, Mancini, Grazia M. S.
Udgivet i Am J Med Genet A (2020)

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome

af Visser, W. Edward, Swagemakers, Sigrid M.A., Őzgűr, Zeliha, Schot, Rachel, Verheijen, Frans W., van Ijcken, Wilfred F.J., van der Spek, Peter J., Visser, Theo J.
Udgivet 2010

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I

af de Groot, Martijn J., Cuppen, Marcel, Eling, Marc, Verheijen, Frans W., Rings, Edmond H. H. M., Reijngoud, Dirk-Jan, de Vries, Maaike M. C., van Spronsen, Francjan J.
Udgivet 2010

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

af Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.
Udgivet 2011

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

af Zhao, Tianna, De Graaff, Esther, Breedveld, Guido J., Loda, Agnese, Severijnen, Lies-Anne, Wouters, Cokkie H., Verheijen, Frans W., Dekker, Marieke C. J., Montagna, Pasquale, Willemsen, Rob, Oostra, Ben A., Bonifati, Vincenzo
Udgivet 2011

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

af Wiltink, Rachel C, Kruijshaar, Michelle E, van Minkelen, Rick, Onkenhout, Willem, Verheijen, Frans W, Kemper, Evelien A, van Spronsen, Francjan J, van der Ploeg, Ans T, Niezen-Koning, Klary E, Saris, Jasper J, Williams, Monique
Udgivet i Eur J Hum Genet (2016)

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

af Niño, Monica Y., Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J., Broeders, Mike, van der Beek, Nadine A. M. E., van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Verheijen, Frans W., Pijnappel, W. W. M. Pim
Udgivet i Eur J Hum Genet (2020)

COL4A2 mutation associated with familial porencephaly and small-vessel disease

af Verbeek, Elly, Meuwissen, Marije EC, Verheijen, Frans W, Govaert, Paul P, Licht, Daniel J, Kuo, Debbie S, Poulton, Cathryn J, Schot, Rachel, Lequin, Maarten H, Dudink, Jeroen, Halley, Dicky J, de Coo, René IF, den Hollander, Jan C, Oegema, Renske, Gould, Douglas B, Mancini, Grazia MS
Udgivet 2012

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

af Kheradmand Kia, Sima, Verbeek, Elly, Engelen, Erik, Schot, Rachel, Poot, Raymond A., de Coo, Irenaeus F.M., Lequin, Maarten H., Poulton, Cathryn J., Pourfarzad, Farzin, Grosveld, Frank G., Brehm, António, de Wit, Marie Claire Y., Oegema, Renske, Dobyns, William B., Verheijen, Frans W., Mancini, Grazia M.S.
Udgivet 2012

Human mutations in integrator complex subunits link transcriptome integrity to brain development

af Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Slegtenhorst, Marjon, Dobyns, William B., de Coo, Irenaeus F. M., Verheijen, Frans W., Kremer, Andreas, van der Spek, Peter J., Heijsman, Daphne, Wagner, Eric J., Fornerod, Maarten, Mancini, Grazia M. S.
Udgivet i PLoS Genet (2017)

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

af Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.
Udgivet 2009

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

af Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Slegtenhorst, Marjon, Dobyns, William B., de Coo, Irenaeus F. M., van den Berg, Debbie, Verheijen, Frans W., Kremer, Andreas, van der Spek, Peter J., Heijsman, Daphne, Wagner, Eric J., Fornerod, Maarten, Mancini, Grazia M. S.
Udgivet i PLoS Genet (2017)

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

af Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.
Udgivet i Am J Hum Genet (2019)

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

af Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W., Hoefsloot, Lies H., Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Saris, Jasper J., Halley, Dicky J.
Udgivet i Eur J Hum Genet (2019)

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

af Meuwissen, Marije E.C., Schot, Rachel, Buta, Sofija, Oudesluijs, Grétel, Tinschert, Sigrid, Speer, Scott D., Li, Zhi, van Unen, Leontine, Heijsman, Daphne, Goldmann, Tobias, Lequin, Maarten H., Kros, Johan M., Stam, Wendy, Hermann, Mark, Willemsen, Rob, Brouwer, Rutger W.W., Van IJcken, Wilfred F.J., Martin-Fernandez, Marta, de Coo, Irenaeus, Dudink, Jeroen, de Vries, Femke A.T., Bertoli Avella, Aida, Prinz, Marco, Crow, Yanick J., Verheijen, Frans W., Pellegrini, Sandra, Bogunovic, Dusan, Mancini, Grazia M.S.
Udgivet i J Exp Med (2016)

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

af Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Céline, Kois, Chelsea, Baujat, Geneviève, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valérie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cécile, Nitschké, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valérie, Hofstra, R.M.W., Lyonnet, Stanislas, Tan, Tiong Yang, Attié-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, Thomas, Sophie
Udgivet i Am J Hum Genet (2020)