Marie Claire de Wit

Verbinnen, I., Douzgou Houge, S., The Undiagnosed Diseases Network, Hsieh, T. C., Lesmann, H., Kirchhoff, A., Geneviève, D., Brimble, E., Lenaerts, L., Haesen, D., Levy, R. J., Thevenon, J., Faivre, L., Marco, E., Chong, J. X., Bamshad, M., Patterson, K., Mirzaa, G. M., Foss, K. & Dobyns, W. & 51 others, White, S. M., Pais, L., O'Heir, E., Itzikowitz, R., Donald, K. A., Van der Merwe, C., Mussa, A., Cervini, R., Giorgio, E., Roscioli, T., Dias, K. R., Evans, C. A., Brown, N. J., Ruiz, A., Trujillo Quintero, J. P., Rabin, R., Pappas, J., Yuan, H., Lachlan, K., Thomas, S., Devlin, A., Wright, M., Martin, R., Karwowska, J., Posmyk, R., Chatron, N., Stark, Z., Heath, O., Delatycki, M. B., Buchert, R., Korenke, G.-C., Ramsey, K., Narayanan, V., Grange, D. K., Weisenberg, J. L., Haack, T. B., Karch, S., Kipkemoi, P., Mangi, M., Bindels de Heus, K. G. C. B., de Wit, M. C. Y., Barakat, T. S., Lim, D., van Winckel, G., Spillmann, R. C., Shashi, V., Jacob, M., Stehr, A. M., Krawitz, P., Houge, G. & Janssens, V., 6 Mar 2025, In: American Journal of Human Genetics. 112, 3, p. 554-571 18 p.

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1 Citation (Scopus)

2024

Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1

Lubbers, K., Hiralal, K. R., Dieleman, G. C., Hagenaar, D. A., Dierckx, B., Legerstee, J. S., de Nijs, P. F. A., Rietman, A. B., Oostenbrink, R., Bindels-de Heus, K. G. C. B., de Wit, M.-C. Y., Hillegers, M. H. J., ten Hoopen, L. W. & Mous, S. E., 12 Oct 2024, (E-pub ahead of print) In: Journal of Autism and Developmental Disorders. 15 p.

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Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review

Kwetsie, H., van Schaijk, M., Van Der Lee, S., Maes-Festen, D., Ten Hoopen, L. W., van Haelst, M. M., Coesmans, M., Van Den Berg, E., De Wit, M. C. Y., Pijnenburg, Y., Aronica, E., Boot, E. & Van Eeghen, A. M., 11 Jun 2024, In: Neurology. 102, 11, e209413.

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Outcome measures in Angelman syndrome

Hagenaar, D. A., Bindels-de Heus, K. G. C. B., van Gils, M. M., van den Berg, L., ten Hoopen, L. W., Affourtit, P., Pel, J. J. M., Joosten, K. F. M., Hillegers, M. H. J., Moll, H. A., de Wit, M. C. Y., Dieleman, G. C. & Mous, S. E., 1 Mar 2024, In: Journal of Neurodevelopmental Disorders. 16, 1, 6.

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5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

Liepina, L., Smith, D. E. C., Huidekoper, H., Zeidler, S., Wamelink, M., de Wit, M. C., Wilke, M., Ruijter, G., Bierau, J. & Blom, H. J., Mar 2024, In: JIMD Reports. 65, 2, p. 49-55 7 p.

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Child characteristics associated with child quality of life and parenting stress in Angelman syndrome

Hagenaar, D. A., Bindels-de Heus, K. G. C. B., Lubbers, K., ten Hoopen, L. W., Rietman, A. B., de Nijs, P. F. A., Hillegers, M. H. J., Moll, H. A., de Wit, M. C. Y., Dieleman, G. C. & Mous, S. E., Mar 2024, In: Journal of Intellectual Disability Research. 68, 3, p. 248-263 16 p.

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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G. & van Eeghen, A. M., 4 Jan 2024, In: BMC Psychiatry. 24, 1, 23.

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Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort

Broers, M., Wieske, L., Erdag, E., Gürlek, C., Bunschoten, C., van Doorn, P., Eftimov, F., Kuitwaard, K., de Vries, J., de Wit, M., Nagtzaam, M., Franken, S., Zhu, L., Paunovic, M., de Wit, M., Schreurs, M., Lleixà, C., Martín-Aguilar, L., Pascual-Goñi, E. & Querol, L. & 3 others, Jacobs, B., Huizinga, R. & Titulaer, M., 1 Jan 2024, In: Journal of Neurology Neurosurgery and Psychiatry. 95, 1, p. 52-60 9 p., jnnp-2023-331378.

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Bone health in children with Angelman syndrome at the ENCORE Expertise Center

Bindels-de Heus, K. G. C. B., Hagenaar, D. A., Mous, S. E., Dekker, I., van der Kaay, D. C. M., Kerkhof, G. F., Elgersma, Y., Moll, H. A. & de Wit, M. C. Y., Jan 2024, In: European Journal of Pediatrics. 183, 1, p. 103-111 9 p.

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2023

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Müller, A. R., Luijten, M. A. J., Haverman, L., de Ranitz-Greven, W. L., Janssens, P., Rietman, A. B., Ten Hoopen, L. W., de Graaff, L. C. G., de Wit, M. C., Jansen, A. C., Gipson, T., Capal, J. K., de Vries, P. J. & van Eeghen, A. M., Dec 2023, In: BMC Medicine. 21, 1, 1 p., 298.

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Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study

Keary, C., Bird, L. M., de Wit, M. C., Hatti, S., Heimer, G., Heussler, H., Kolevzon, A., Mathews, A., Ochoa-Lubinoff, C., Tan, W. H., Yan, Y. & Adams, M., Nov 2023, In: European Journal of Paediatric Neurology. 47, p. 6-12 7 p.

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7 Citations (Scopus)

Meaningful outcomes for children and their caregivers attending a paediatric brain centre

Heydenrijk-Kikkert, M. A., Schmidt, A. K. K., Pangalila, R., De Wit, M. C. Y., van Haren, N. E. M., Van Veelen, M. L. C. & Roebroeck, M. E., Nov 2023, In: Developmental Medicine and Child Neurology. 65, 11, p. 1493-1500 8 p.

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Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome

Bindels-de Heus, K. G. C. B., Hagenaar, D. A., Dekker, I., van der Kaay, D. C. M., Kerkhof, G. F., ENCORE Expertise Center for AS, Elgersma, Y., de Wit, M. C. Y., Mous, S. E. & Moll, H. A., 15 Sept 2023, In: Journal of Clinical Medicine. 12, 18, 5981.

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Predicting respiratory failure and outcome in pediatric Guillain-Barré syndrome

the Working Group GBS in Children in Germany, Austria and Switzerland and the Dutch Pediatric GBS Study Group, Roodbol, J., Korinthenberg, R., Venema, E., de Wit, M. C. Y., Lingsma, H. F., Catsman-Berrevoets, C. E., Jacobs, B. C., Korinthenberg, R., Roodbol, J., de Wit, M. C. Y., Catsman-Berrevoets, C. E., Jacobs, B. C., Engelen, M., Erasmus, C. E., Geleijns, C. P. W., Kotsopoulos, I. A. W., Nicolai, J. & Niermeijer, J. M. F. & 2 others, Niks, E. H. & Samijn, J., May 2023, In: European Journal of Paediatric Neurology. 44, p. 18-24 7 p.

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Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program

Bindels-de Heus, K. G. C. B., Hooven-Radstaake, M. T., ENCORE Expertise Center for AS, Legerstee, J. S., Hoopen, L. W. T., Dieleman, G. C., Moll, H. A., Mous, S. E. & de Wit, M. C. Y., Apr 2023, In: Research in Developmental Disabilities. 135, 104444.

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Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Brock, S., Laquerriere, A., Marguet, F., Myers, S. J., Hongjie, Y., Baralle, D., Vanderhasselt, T., Stouffs, K., Keymolen, K., Kim, S., Allen, J., Shaulsky, G., Chelly, J., Marcorelle, P., Aziza, J., Villard, L., Sacaze, E., De Wit, M. C. Y., Wilke, M. & Mancini, G. M. S. & 9 others, Hehr, U., Lim, D., Mansour, S., Traynelis, S. F., Beneteau, C., Denis-Musquer, M., Jansen, A. C., Fry, A. E. & Bahi-Buisson, N., Feb 2023, In: Journal of Medical Genetics. 60, 2, p. 183-192 10 p.

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2022

Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison

Lubbers, K., Stijl, E. M., Dierckx, B., Hagenaar, D. A., ten Hoopen, L. W., Legerstee, J. S., de Nijs, P. F. A., Rietman, A. B., Greaves-Lord, K., Hillegers, M. H. J., Dieleman, G. C., Mous, S. E. & ENCORE Expertise Center for AS, 16 May 2022, In: Frontiers in Psychiatry. 13, 852208.

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Acute flaccid myelitis and Guillain-Barré syndrome in children: A comparative study with evaluation of diagnostic criteria

Helfferich, J., Roodbol, J., 2016 Enterovirus D68 Acute Flaccid Myelitis Working Group and the Dutch Pediatric GBS Study Group, de Wit, M. C., Brouwer, O. F. & Jacobs, B. C., 1 Feb 2022, In: European Journal of Neurology. 29, 2, p. 593-604 12 p.

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2021

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

de Wit, M. C., Verheijen-Mancini, G., Dremmen, M., Schot, R. & Wilke, M., Apr 2021, In: Neurology: Genetics. 7, 2, p. e558 5 p.

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Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial

Thiele, E. A., Bebin, E. M., Bhathal, H., Jansen, F. E., Kotulska, K., Lawson, J. A., O'Callaghan, F. J., Wong, M., Sahebkar, F., Checketts, D., Knappertz, V. & de Wit, M. C., Mar 2021, In: JAMA Neurology. 78, 3, p. 285-292 8 p., 33346789.

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2020

Human RAD50 deficiency: Confirmation of a distinctive phenotype

Ragamin, A., Yigit, G., Bousset, K., Beleggia, F., Verheijen, F. W., de Wit, M. C. Y., Strom, T. M., Dörk, T., Wollnik, B. & Mancini, G. M. S., 1 Jun 2020, In: American Journal of Medical Genetics, Part A. 182, 6, p. 1378-1386 9 p.

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20 Citations (Scopus)

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

Heus, K., Mous, S., Radstaake, M., Kolk, B., Navis, C., Rietman, A., Hoopen, L., Brooks, A., Elgersma, Y., Moll, H. & Wit, M. C., 2020, In: American Journal of Medical Genetics, Part A. 182, p. 53-63 11 p.

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Counselling in tuberous sclerosis complex: A survey on content and satisfaction in the Netherlands

Hulshof, H. M., Brenner, J., Overwater, I., de Wit, M. C., Braun, K. & Jansen, F., 2020, In: European Journal of Paediatric Neurology. 25, p. 113-119 7 p.

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2 Citations (Scopus)

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

Bar, C., Kuchenbuch, M., Barcia, G., Schneider, A., Jennesson, M., Le Guyader, G., Lesca, G., Mignot, C., Montomoli, M., Parrini, E., Isnard, H., Rolland, A., Keren, B., Afenjar, A., Dorison, N., Sadleir, L., Breuillard, D., Levy, R., Rio, M. & Dupont, S. & 41 others, Negrin, S., Danieli, A., Scalais, E., Martin, A., El Chehadeh, S., Chelly, J., Poisson, A., Lebre, A., Nica, A., Odent, S., Sekhara, T., Brankovic, V., Goldenberg, A., Vrielynck, P., Lederer, D., Maurey, H., Terrone, G., Besmond, C., Hubert, L., Berquin, P., Billette de Villemeur, T., Isidor, B., Freeman, J., Mefford, H., Myers, C., Howell, K., Rodríguez-Sacristán Cascajo, A., Meyer, P., Genevieve, D., Guët, A., Doummar, D., Durigneux, J., van Dooren, M., de Wit, M. C., Gerard, M., Marey, I., Munnich, A., Guerrini, R., Scheffer, I., Kabashi, E. & Nabbout, R., 2020, In: Epilepsia. 61, 11, p. 2461-2473 13 p.

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33 Citations (Scopus)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Groeneweg, S., van Geest, F., Abaci, A., Alcantud, A., Ambegaonkar, G., Armour, C., van Beynum, I., Coo, I., Dolcetta-Capuzzo, A., Dremmen, M., van der Knoop, M., de Wit, M. C., Uil, C., Zwaveling-Soonawala, N. & Visser, E., 2020, In: The Lancet Diabetes and Endocrinology. 8, 7, p. 594-605 12 p.

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77 Citations (Scopus)

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

ENCORE-NF1 Team, 2020, In: Genetics in Medicine. 22, 5, p. 889-897 9 p.

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2019

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex

Overwater, I., Rietman, A., Herrman - Mous, S., Bindels - de Heus, K., Rizopoulos, D., ten Hoopen, L., van der Vaart, T., Jansen, F., Elgersma, Y., Moll, H. & de Wit, M. C., 2019, In: Neurology. 93, 2, p. E200-E209

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83 Citations (Scopus)

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Groeneweg, S., Peeters, R., Moran, C., Stoupa, M., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., Van der Walt, A., de Coo, I., McGowan, A., Lyons, G., Aarsen, R., Barca, P., van Beynum, I., van der Knoop, M., Jansen, J. & Manshande, M. & 26 others, Lunsing, R., Nowak, S., Uil, C., Zillikens, M. C., Visser, F., Vrijoeth, P., Wit, M., Wolf, N., Zandstra, A., Abegaonkar, G., Singh, Y., de Rijke, Y., Medici, M., Bertini, E., Depoorter, S., Lebl, J., Cappa, M., de Meirleir, L., Krude, H., Craiu, D., Zibordi, F., Petit, I., Polak, M., Chatterjee, K., Visser, T. & Visser, E., 2019, In: The Lancet Diabetes & Endocrinology. 7, 9, p. 695-706 12 p.

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Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

Overwater, I., Rietman, A., van Eeghen, A. & de Wit, M. C., 2019, In: Therapeutics and Clinical Risk Management. 15, p. 951-955 5 p.

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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, P., Smits, D., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., Verheijen, F., Wilke, M., van Slegtenhorst, M., Jansen, A., Ent, M., Dremmen, M., de Wit, M. C., Demmers, J., van der Spek, P., Fornerod, M. W. J. & Verheijen - Mancini, G., 2019, In: American Journal of Human Genetics. 105, 4, p. 689-705 17 p.

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45 Citations (Scopus)

Radiation Exposure From Pediatric CT Scans and Subsequent Cancer Risk in the Netherlands

Meulepas, J., Ronckers, C., Smets, A., Nievelstein, R., Gradowska, P., Lee, C., Jahnen, A., van Straten, M., de Wit, M. C., Zonnenberg, B., Klein, W., Merks, J., Visser, O., van Leeuwen, F. & Hauptmann, M., 2019, In: Journal of the National Cancer Institute. 111, 3, p. 256-263 8 p., djy104.

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266 Citations (Scopus)

Re: "Radiation Exposure From Pediatric CT Scans and Subsequent Cancer Risk in the Netherlands" Response

Meulepas, J., Ronckers, C., Smets, A., Nievelstein, R., Gradowska, P., Lee, C., Jahnen, A., van Straten, M., de Wit, M. C., Zonnenberg, B., Klein, W., Merks, J., Visser, O., van Leeuwen, F. & Hauptmann, M., 2019, In: Journal of the National Cancer Institute. 111, 9, p. 1002-1003 2 p., djz062.

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3 Citations (Scopus)

Within-subject Consistency of Paired Associative Stimulation as Assessed by Linear Mixed Models

Ottenhoff, M. J., Fani, L., Erler, N. S., Castricum, J., Obdam, I. F., der Vaart, T. V., Kushner, S. A., de Wit, M.-C. Y., Elgersma, Y. & Tulen, J. H. M., 2019, In: bioRxiv.

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2018

Second IVIg course in Guillain-Barré syndrome patients with poor prognosis (SID-GBS trial): Protocol for a double-blind randomized, placebo-controlled clinical trial

Walgaard, C., Jacobs, B. C., Lingsma, H., Steyerberg, E., Cornblath, D., van Doorn, P. & The Dutch GBS Study Group, Dec 2018, In: Journal of the Peripheral Nervous System. 23, 4, p. 210-215 6 p.

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Antibody responses to GalC in severe and complicated childhood Guillain-Barre syndrome

Meyer Sauteur, P., Huizinga, R., Gillen, A., de Wit, M. C., Unger, W., Berger, C., van Rossum, A. & Jacobs, B. C., 2018, In: Journal of the Peripheral Nervous System. 23, 1, p. 67-69 3 p.

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2 Citations (Scopus)

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Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study

Herrman - Mous, S., Overwater, I., Gato, R., Duvekot, J. J., ten Hoopen, L., Lequin, M., de Wit, M. C. & Dieleman, G., 2018, In: European Child & Adolescent Psychiatry. 27, 6, p. 753-765 13 p.

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Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1

Rietman, A., Vaart, T., Plasschaert, E., Nicholson, B., Oostenbrink, R., Krab, L., Descheemaeker, M., de Wit, M. C., Moll, H., Legius, E. & de Nijs, P., 2018, In: American Journal of Medical Genetics Part B-Neuropsychiatric Genetics. 177, 3, p. 319-328 10 p.

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Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis

the CHANCE Study Group, de Bruijn, M., Aarsen, F., van Oosterhout, M., van der Knoop, M., Catsman - Berrevoets, C., Schreurs, M., Bastiaansen, D., Sillevis Smitt, P., Neuteboom, R. & Titulaer, M., 2018, In: Neurology. 90, 22, p. E1997-E2005

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Sodium Channel SCN3A (Na(V)1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Smith, R., Kenny, C., Ganesh, V., Jang, A., Borges-Monroy, R., Partlow, J., Hill, R., Shin, T., Chen, A., Doan, R., Anttonen, A., Ignatius, J., Medne, L., Bonnemann, C., Hecht, J., Salonen, O., Barkovich, A., Poduri, A., Wilke, M. & de Wit, M. C. & 9 others, Verheijen - Mancini, G., Sztriha, L., Im, K., Amrom, D., Andermann, E., Paetau, R., Lehesjoki, A., Walsh, C. & Lehtinen, M., 2018, In: Neuron. 99, 5, p. 905-+

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116 Citations (Scopus)