Research Output 1985 2019

2019

#IToo

Tutu-van Furth, AM. & Tutu, M. A., 2019, In : The Lancet. 393, 10171, p. 529-530

Research output: Contribution to journalArticleAcademicpeer-review

A 45-year experience with the Fontan procedure: tachyarrhythmia, an important sign for adverse outcome

Rijnberg, F. M., Blom, N. A., Sojak, V., Bruggemans, E. F., Kuipers, I. M., Rammeloo, L. A. J., Jongbloed, M. R. M., Bouma, B. J. & Hazekamp, M. G., 2019, In : Interactive Cardiovascular and Thoracic Surgery. 29, 3, p. 461-468

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Acid sphingomyelinase: No potential as a biomarker for multiple sclerosis

Leurs, C. E., Lopes Pinheiro, M. A., Wierts, L., den Hoedt, S., Mulder, M. T., Eijlers, A. J. C., Schoonheim, M. M., Balk, L. J., Uitdehaag, B. M. J., Killestein, J. & de Vries, H. E., 1 Feb 2019, In : Multiple Sclerosis and Related Disorders. 28, p. 44-49 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J-L., Chiesa, S., Chinn, I. K., Dückers, G., Enders, A. & 32 othersErichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E-M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K. & Kuijpers, T. W., 2019, In : Journal of Allergy and Clinical Immunology. 143, 6, p. 2296-2299

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Acute myeloid leukaemia niche regulates response to L-asparaginase

Kaspers, G. J. L., 2019, In : British Journal of Haematology.

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access

A descriptive mixed-methods analysis of sexual behavior and knowledge in very young children assessed for sexual abuse: The ASAC study

Vrolijk-Bosschaart, T. F., Brilleslijper-Kater, S. N., Verlinden, E., Widdershoven, G. A. M., Teeuw, A. H., Voskes, Y., van Duin, E. M., Verhoeff, A. P., de Leeuw, M., Roskam, M. J., Benninga, M. A. & Lindauer, R. J. L., 2019, In : Frontiers in Psychology. 9, JAN, 2716.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

ADPedKD: A Global Online Platform on the Management of Children With ADPKD

de Rechter, S., Bockenhauer, D., Guay-Woodford, L. M., Liu, I., Mallett, A. J., Soliman, N. A., Sylvestre, L. C., Schaefer, F., Liebau, M. C., Mekahli, D., Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V., Bayrakci, U. S., Bensman, A. & 131 othersBialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Bryłka, A., Çalışkan, S., Cambier, A., Camelio, A., Carbone, V., Charbit, M., Chiodini, B., Chirita, A., Çiçek, N., Cerkauskiene, R., Collard, L., Conceiçao, M., Constantinescu, I., Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, M. S., Giani, M., Giordano, M., Girisgen, I., Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I., Gonzalez, E., Gökçe, I., Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., llanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I., Koenig, J., Krid, S., Krug, P., Kwon, V., la Manna, A., Leroy, V., Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., McCarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I., Nobili, F., Obrycki, L., Otoukesh, H., Özcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygılı, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepańska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wühl, E., Yildirim, Z. Y., Yüksel, S. & Zachwieja, K., 2019, In : Kidney International Reports. 4, 9, p. 1271-1284

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Aeration strategy at birth influences the physiological response to surfactant in preterm lambs

Tingay, D. G., Togo, A., Pereira-Fantini, P. M., Miedema, M., McCall, K. E., Perkins, E. J., Thomson, J., Dowse, G., Sourial, M., Dellacà, R. L., Davis, P. G. & Dargaville, P. A., 2019, In : Archives of Disease in Childhood-Fetal and Neonatal Edition.

Research output: Contribution to journalArticleAcademicpeer-review

Age-dependent differences in pulmonary host responses in ARDS: a prospective observational cohort study

MARS consortium, 2019, In : Annals of Intensive Care. 9, 1, 55.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Aggressive imaging in young children on antithrombotic therapy with minor traumatic head injury

Brouwer, K., Niele, N., van Houten, M. A. & Plötz, F. B., 2019, In : American Journal of Emergency Medicine. 37, 5, p. 972-973

Research output: Contribution to journalComment/Letter to the editorAcademic

A longitudinal study on the effects of psychological stress on proteinuria in childhood steroid-sensitive nephrotic syndrome

Bakkum, L., Willemen, A. M., Zoetebier, L. & Bouts, A. H., 2019, In : Journal of Psychosomatic Research. 121, p. 8-13

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Altered materno-fetal transfer of 13C-polyunsaturated fatty acids in obese pregnant women

Gázquez, A., Prieto-Sánchez, M. T., Blanco-Carnero, J. E., Ruíz-Palacios, M., Nieto, A., van Harskamp, D., Oosterink, J. E., Schierbeek, H., van Goudoever, J. B., Demmelmair, H., Koletzko, B. & Larqué, E., 2019, In : Clinical Nutrition.

Research output: Contribution to journalArticleAcademicpeer-review

A meta-analytical evaluation of the dual-hormone hypothesis: Does cortisol moderate the relationship between testosterone and status, dominance, risk taking, aggression, and psychopathy?

Dekkers, T. J., van Rentergem, J. A. A., Meijer, B., Popma, A., Wagemaker, E. & Huizenga, H. M., 2019, In : Neuroscience and Biobehavioral Reviews. 96, p. 250-271

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

A mixed method multi-country assessment of barriers to implementing pediatric inpatient care guidelines

on behalf of the Childhood Acute Illness and Nutrition Network, 1 Mar 2019, In : PLoS ONE. 14, 3, e0212395.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Amnioinfusion Compared with No Intervention in Women with Second-Trimester Rupture of Membranes: A Randomized Controlled Trial

van Kempen, L. E. M., van Teeffelen, A. S., de Ruigh, A. A., Oepkes, D., Haak, M. C., van Leeuwen, E., Woiski, M., Porath, M. M., Bax, C. J., van Wassenaer-Leemhuis, A. G., Mulder, A. L., van der Ham, D. P., Willekes, C., Franssen, M. T., Derks, J. B., Schuit, E., Mol, B. W. & Pajkrt, E., 2019, In : Obstetrics and Gynecology. 133, 1, p. 129-136

Research output: Contribution to journalArticleAcademicpeer-review

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Amygdala functioning during threat acquisition and extinction differentiates antisocial subtypes

Fanti, K. A., Konikou, K., Cohn, M., Popma, A. & Brazil, I. A., 2019, In : Journal of Neuropsychology.

Research output: Contribution to journalArticleAcademicpeer-review

A National Process to Enhance the Validity of Entrustment Decisions for Dutch Pediatric Residents

Smit, M. P., de Hoog, M., Brackel, H. J. L., ten Cate, O. & Gemke, R. J. B. J., 2019, In : Journal of graduate medical education. 11, 4, p. 158-164

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 1 Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 890-897

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

An Integrated Analysis of Neural Network Correlates of Categorical and Dimensional Models of Attention-Deficit/Hyperactivity Disorder

Pruim, R. H. R., Beckmann, C. F., Oldehinkel, M., Oosterlaan, J., Heslenfeld, D., Hartman, C. A., Hoekstra, P. J., Faraone, S. V., Franke, B., Buitelaar, J. K. & Mennes, M., 2019, In : Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. 4, 5, p. 472-483

Research output: Contribution to journalArticleAcademicpeer-review

An integrative cross-omics analysis of DNA methylation sites of glucose and insulin homeostasis

Liu, J., Carnero-Montoro, E., van Dongen, J., Lent, S., Nedeljkovic, I., Ligthart, S., Tsai, P-C., Martin, T. C., Mandaviya, P. R., Jansen, R., Peters, M. J., Duijts, L., Jaddoe, V. W. V., Tiemeier, H., Felix, J. F., Willemsen, G., de Geus, E. J. C., Chu, A. Y., Levy, D., Hwang, S-J. & 37 othersBressler, J., Gondalia, R., Salfati, E. L., Herder, C., Hidalgo, B. A., Tanaka, T., Moore, A. Z., Lemaitre, R. N., Jhun, M. A., Smith, J. A., Sotoodehnia, N., Bandinelli, S., Ferrucci, L., Arnett, D. K., Grallert, H., Assimes, T. L., Hou, L., Baccarelli, A., Whitsel, E. A., van Dijk, K. W., Amin, N., Uitterlinden, A. G., Sijbrands, E. J. G., Franco, O. H., Dehghan, A., Spector, T. D., Dupuis, J., Hivert, M-F., Rotter, J. I., Meigs, J. B., Pankow, J. S., van Meurs, J. B. J., Isaacs, A., Boomsma, D. I., Bell, J. T., Demirkan, A. & van Duijn, C. M., 13 Jun 2019, In : Nature Communications. 10, 1, p. 2581

Research output: Contribution to journalArticleAcademicpeer-review

A novel approach to improve stress regulation among traumatized youth in residential care: Feasibility study testing three game-based meditation interventions

Schuurmans, A. A. T., Nijhof, K. S., Scholte, R., Popma, A. & Otten, R., 2019, In : Early Intervention in Psychiatry.

Research output: Contribution to journalArticleAcademicpeer-review

A novel classification system for research reporting in rare and progressive genetic conditions

van Karnebeek, C. D. M., Beumer, D., Pawliuk, C., Goez, H., Mostafavi, S., Andrews, G., Steele, R. & Siden, H., 2019, In : Developmental Medicine and Child Neurology. 61, 10, p. 1208-1213

Research output: Contribution to journalArticleAcademicpeer-review

Antibiotic Treatment in the First Week of Life Impacts the Growth Trajectory in the First Year of Life in Term Infants

Kamphorst, K., Oosterloo, B. C., Vlieger, A. M., Rutten, N. B., Bunkers, C. M., Wit, E. C. & van Elburg, R. M., 1 Jul 2019, In : Journal of Pediatric Gastroenterology and Nutrition. 69, 1, p. 131-136

Research output: Contribution to journalArticleAcademicpeer-review

Antisocial Behavior and Victimization Over 2-Year Follow-Up in Subgroups of Childhood Arrestees

van Domburgh, L., Geluk, C., Jansen, L., Vermeiren, R. & Doreleijers, T., 2019, In : Journal of Interpersonal Violence. 34, 18, p. 3780-3806

Research output: Contribution to journalArticleAcademicpeer-review

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

O'Callaghan, B., Bosch, A. M. & Houlden, H., 2019, In : Journal of Inherited Metabolic Disease. 42, 4, p. 598-607

Research output: Contribution to journalReview articleAcademicpeer-review

Aortic coarctation repair through left thoracotomy: Results in the modern era

Farag, E. S., Kluin, J., de Heer, F., Ahmed, Y., Sojak, V., Koolbergen, D. R., Blom, N. A., de Mol, B. A. J. M., ten Harkel, A. D. J. & Hazekamp, M. G., 2019, In : European Journal of Cardio-thoracic Surgery. 55, 2, p. 331-337

Research output: Contribution to journalArticleAcademicpeer-review

A Randomized Effectiveness Trial of a Behavioral Teacher Program Targeting ADHD Symptoms

Veenman, B., Luman, M., Hoeksma, J., Pieterse, K. & Oosterlaan, J., 2019, In : Journal of Attention Disorders. 23, 3, p. 293-304

Research output: Contribution to journalArticleAcademicpeer-review

A reduced-carbohydrate and lactose-free formulation for stabilization among hospitalized children with severe acute malnutrition: A double-blind, randomized controlled trial

Bandsma, R. H. J., Voskuijl, W., Chimwezi, E., Fegan, G., Briend, A., Thitiri, J., Ngari, M., Mwalekwa, L., Bandika, V., Ali, R., Hamid, F., Owor, B., Mturi, N., Potani, I., Allubha, B., Kobold, A. C. M., Bartels, R. H., Versloot, C. J., Feenstra, M., van den Brink, D. A. & 4 othersvan Rheenen, P. F., Kerac, M., Bourdon, C. & Berkley, J. A., 2019, In : PLoS Medicine. 16, 2, e1002747.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Are individual differences quantitative or qualitative? An integrated behavioral and fMRI MIMIC approach

Zadelaar, J. N., Weeda, W. D., Waldorp, L. J., van Duijvenvoorde, A. C. K., Blankenstein, N. E. & Huizenga, H. M., 2019, In : NeuroImage. 202, 116058.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

A Semi-Mechanistic Population Pharmacokinetic/Pharmacodynamic Model of Bortezomib in Pediatric Patients with Relapsed/Refractory Acute Lymphoblastic Leukemia

Dorlo, T. P. C., Janssen, J., Niewerth, D., Wilhelm, A. J., Zwaan, C. M., Beijnen, J. H., Attarbaschi, A., Baruchel, A., Fagioli, F., Klingebiel, T., de Moerloose, B., Palumbo, G., von Stackelberg, A., Kaspers, G. J. L. & Huitema, A. D. R., 2019, In : Clinical Pharmacokinetics.

Research output: Contribution to journalArticleAcademicpeer-review

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Haijes, H. A., de Sain-van der Velden, M. G. M., Prinsen, H. C. M. T., Willems, A. P., van der Ham, M., Gerrits, J., Couse, M. H., Friedman, J. M., van Karnebeek, C. D. M., Selby, K. A., van Hasselt, P. M., Verhoeven-Duif, N. M. & Jans, J. J. M., 2019, In : Molecular Genetics and Metabolism. 127, 4, p. 368-372

Research output: Contribution to journalArticleAcademicpeer-review

Associations between pretherapeutic body mass index, outcome, and cytogenetic abnormalities in pediatric acute myeloid leukemia

Løhmann, D. J. A., Asdahl, P. H., Abrahamsson, J., Ha, S-Y., Jónsson, Ó. G., Kaspers, G. J. L., Koskenvuo, M., Lausen, B., de Moerloose, B., Palle, J., Zeller, B., Sung, L. & Hasle, H., 2019, In : Cancer Medicine. 8, 15, p. 6634-6643

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter

Leferink, P. S., Dooves, S., Hillen, A. E. J., Watanabe, K., Jacobs, G., Gasparotto, L., Cornelissen-Steijger, P., van der Knaap, M. S. & Heine, V. M., 1 Nov 2019, In : Annals of Neurology. 86

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Astrocytic ceramide as possible indicator of neuroinflammation 11 Medical and Health Sciences 1109 Neurosciences

de Wit, N. M., den Hoedt, S., Martinez-Martinez, P., Rozemuller, A. J., Mulder, M. T. & de Vries, H. E., 2019, In : Journal of Neuroinflammation. 16, 1, 48.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism

Nijmeijer, S. C. M., Conijn, T., Lakeman, P., Henneman, L., Wijburg, F. A. & Haverman, L., 1 Jan 2019, In : Molecular Genetics and Metabolism. 126, 1, p. 14-22 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Atypical cerebral palsy: genomics analysis enables precision medicine

On behalf of TIDE BC, United for Metabolic Diseases and the CAUSES Study, 2019, In : Genetics in Medicine. 21, 7, p. 1621-1628

Research output: Contribution to journalArticleAcademicpeer-review

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (Nature Genetics, (2019), 51, 1, (117-127), 10.1038/s41588-018-0281-y)

Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., Zhang, J. Y. & 70 othersNa, Y-J., Lim, T. Y., Ahram, D., Weng, P. L., Heinzen, E. L., Carrea, A., Piaggio, G., Gesualdo, L., Manca, V., Masnata, G., Gigante, M., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Zamboli, P., White, H., Drozdz, D., Zachwieja, K., Miklaszewska, M., Tkaczyk, M., Tomczyk, D., Krakowska, A., Sikora, P., Jarmoliński, T., Borszewska-Kornacka, M. K., Pawluch, R., Szczepanska, M., Adamczyk, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Dobson, M. G., Darlow, J. M., Puri, P., Barton, D. E., Furth, S. L., Warady, B. A., Gucev, Z., Lozanovski, V. J., Tasic, V., Pisani, I., Allegri, L., Rodas, L. M., Campistol, J. M., Jeanpierre, C. C., Alam, S., Casale, P., Wong, C. S., Lin, F., Miranda, D. B. M., Oliveira, E. A., Simoes-e-Silva, A. C., Barasch, J. M., Levy, B., Wu, N., Hildebrandt, F., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Zhang, F., Hakonarson, H., Papaioannou, V. E., Mendelsohn, C. L., Gharavi, A. G. & Sanna-Cherchi, S., 1 Apr 2019, In : Nature Genetics. 51, 4, p. 764

Research output: Contribution to journalErratumAcademicpeer-review

Awareness and perceptions of clinical guidelines for the diagnostics and treatment of severe behavioural problems in children across Europe: A qualitative survey with academic experts

Gatej, A-R., Lamers, A., van Domburgh, L., Crone, M., Ogden, T., Rijo, D., Aronen, E., Barroso, R., Boomsma, D. I. & Vermeiren, R., 2019, In : European Psychiatry. 57, p. 1-9

Research output: Contribution to journalArticleAcademicpeer-review

Bacterial genotyping of central nervous system tuberculosis in South Africa: Heterogenic Mycobacterium tuberculosis Infection and Predominance of Lineage 4

van Leeuwen, L. M., Versteegen, P., Zaharie, S. D., van Elsland, S. L., Jordaan, A., Streicher, E. M., Warren, R. M., van der Kuip, M. & van Furth, A. M., 2019, In : Journal of Clinical Microbiology. 57, 8, e00415-19.

Research output: Contribution to journalArticleAcademicpeer-review

Behavioral and Neural Pathways Supporting the Development of Prosocial and Risk-Taking Behavior Across Adolescence

Blankenstein, N. E., Telzer, E. H., Do, K. T., van Duijvenvoorde, A. C. K. & Crone, E. A., 1 Jan 2019, In : Child Development.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

van Karnebeek, C. D. M., Ramos, R. B. J., Wen, X-Y., Tarailo-Graovac, M., Gleeson, J. G., Skrypnyk, C., Brand-Arzamendi, K., Karbassi, F., Issa, M. Y., van der Lee, R., Drögemöller, B. I., Koster, J., Rousseau, J., Campeau, P. M., Wang, Y., Cao, F., Li, M., Ruiter, J., Ciapaite, J., Kluijtmans, L. A. J. & 13 othersWillemsen, M. A. A. P., Jans, J. J., Ross, C. J., Wintjes, L. T., Rodenburg, R. J., Huigen, M. C. D. G., Jia, Z., Waterham, H. R., Wasserman, W. W., Wanders, R. J. A., Verhoeven-Duif, N. M., Zaki, M. S. & Wevers, R. A., 2019, In : American journal of human genetics. 105, 3, p. 534-548

Research output: Contribution to journalArticleAcademicpeer-review

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Gorman, K. M., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., Carss, K. J., Bryant, E., Reich, A., Schneider, A. L., Pressler, R. M., Simpson, M. A., Debelle, G. D., Wassmer, E., Morton, J., Sieciechowicz, D., Paciorkowski, A. R., Cross, J. H., Poduri, A., Mefford, H. C. & 5 othersHaack, T. B., McCullagh, G., Deciphering Developmental Disorders Study, NIHR BioResource & UK10K Consortium, 2019, In : American journal of human genetics. 104, 5, p. 948-956

Research output: Contribution to journalArticleAcademicpeer-review

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C. & 2 othersSalomons, G. S. & Mochel, F., 2019, In : Neurology. 92, 11, p. E1225-E1237

Research output: Contribution to journalArticleAcademicpeer-review

Biochemical screening of intellectually disabled patients: A stepping stone to initiate a newborn screening program in Pakistan

Wasim, M., Khan, H. N., Ayesha, H., Goorden, S. M. I., Vaz, F. M., van Karnebeek, C. D. M. & Rabbi Awan, F., 1 Jan 2019, In : Frontiers in Neurology. 10, JUL, 762.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6

Larson, A. A., Balasubramaniam, S., Christodoulou, J., Burrage, L. C., Marom, R., Graham, B. H., Diaz, G. A., Glamuzina, E., Hauser, N., Heese, B., Horvath, G., Mattman, A., van Karnebeek, C., Lane Rutledge, S., Williamson, A., Estrella, L., van Hove, J. K. L. & Weisfeld-Adams, J. D., 2019, In : Mitochondrion. 44, p. 58-64

Research output: Contribution to journalArticleAcademicpeer-review

Biomarkers to diagnose ventricular dysfunction in childhood cancer survivors: A systematic review

Leerink, J. M., Verkleij, S. J., Feijen, E. A. M., Mavinkurve-Groothuis, A. M. C., Pourier, M. S., Ylänen, K., Tissing, W. J. E., Louwerens, M., van den Heuvel, M. M., van Dulmen-den Broeder, E., de Vries, A. C. H., Ronckers, C. M., van der Pal, H. J. H., Kapusta, L., Loonen, J., Bellersen, L., Pinto, Y. M., Kremer, L. C. M. & Kok, W. E. M., 1 Feb 2019, In : Heart. 105, 3, p. 210-216 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Bodyweight-adjusted rivaroxaban for children with venous thromboembolism (EINSTEIN-Jr): results from three multicentre, single-arm, phase 2 studies

EINSTEIN-Jr Phase 2 Investigators, 2019, In : The Lancet Haematology. 6, 10, p. e500-e509

Research output: Contribution to journalArticleAcademicpeer-review