• Universiteitssingel50, UNS50

    6229 ER Maastricht

    Netherlands

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2020

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children

Oosterloo, M., Bijlsma, E. K., de Die-Smulders, C. & Roos, R. A. C., Mar 2020, In : Brain Sciences. 10, 3, 12 p., 155.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Differential effect of lacosamide on Na(v)1.7 varients from responsive and non-responsive patients with small fibre neuropathy

Labau, J. I. R., Estacion, M., Tanaka, B. S., de Greef, B. T. A., Hoeijmakers, J. G. J., Geerts, M., Gerrits, M. M., Smeets, H. J. M., Faber, C. G., Merkies, I. S. J., Lauria, G., Dib-Hajj, S. D. & Waxman, S. G., Mar 2020, In : Brain. 143, p. 771-782 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fachal, L., Aschard, H., Beesley, J., Barnes, D. R., Allen, J., Kar, S., Pooley, K. A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemacon, A., Lush, M., Tyrer, J. P., Ghoussaini, M., Marjaneh, M. M., Jiang, X., Agata, S., Aittomaki, K., Rosario Alonso, M. & 36 others, Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Auber, B., Auer, P. L., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bialkowska, K., Blanco, A. M., Blomqvist, C., Blot, W., Bogdanova, N., Bojesen, S. E., Bolla, M. K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., de Boer, M., Garcia, E. G., Blok, M., GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators, Jan 2020, In : Nature Genetics. 52, 1, p. 56–73 25 p.

Research output: Contribution to journalArticleAcademicpeer-review

Fitter Mitochondria Are Associated With Radioresistance in Human Head and Neck SQD9 Cancer Cells

Grasso, D., Medeiros, H. C. D., Zampieri, L. X., Bol, V., Danhier, P., van Gisbergen, M. W., Bouzin, C., Brusa, D., Gregoire, V., Smeets, H., Stassen, A. P. M., Dubois, L. J., Lambin, P., Dutreix, M. & Sonveaux, P., 13 Mar 2020, In : Frontiers in Pharmacology. 11, 16 p., 263.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy

Schijns, O. E. M. G., Bisschop, J., Rijkers, K., Dings, J., Vanherle, S., Lindsey, P., Smeets, H. J. M. & Hoogland, G., Apr 2020, In : Epileptic Disorders. 22, 2, p. 176-182 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Pennings, M., Schouten, M., van Gaalen, J., Meijer, R. P. P., de Bot, S. T., Kriek, M., Saris, C. G. J., van den Berg, L. H., van Es, M. A., Zuidgeest, D. M. H., Elting, M. W., van de Kamp, J. M., Van Spaendonck-Zwarts, K. Y., de Die-Smulders, C., Brilstra, E. H., Verschuuren, C. C., de Vries, B. B. A., Bruijn, J., Sofou, K., Duijkers, F. A. & 4 others, Jaeger, B., Schieving, J. H., van de Warrenburg, B. P. & Kamsteeg, E-J., Jan 2020, In : European Journal of Human Genetics. 28, 1, p. 40-49 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

van de Putte, R., Van Rooij, I. A. L. M., Haanappel, C. P., Marcelis, C. L. M., Brunner, H. G., Addor, M-C., Cavero-Carbonell, C., Dias, C. M., Draper, E. S., Etxebarriarteun, L., Gatt, M., Khoshnood, B., Kinsner-Ovaskainen, A., Klungsoyr, K., Kurinczuk, J. J., Latos-Bielenska, A., Luyt, K., O'Mahony, M. T., Miller, N., Mullaney, C. & 18 others, Nelen, V., Neville, A. J., Perthus, I., Pierini, A., Randrianaivo, H., Rankin, J., Rissmann, A., Rouget, F., Schaub, B., Tucker, D., Wellesley, D., Wiesel, A., Zymak-Zakutnia, N., Loane, M., Barisic, I., De Walle, H. E. K., Bergman, J. E. H. & Roeleveld, N., 15 May 2020, In : Birth Defects Research. 112, 9, p. 688-698 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

Van Beusichem, A. E., Nicolai, J., Verhoeven, J., Speth, L., Coenen, M., Willemsen, M. A., Kamsteeg, E. J., Stumpel, C. & Vermeulen, R. J., Apr 2020, In : Neuropediatrics. 51, 2, p. 146-153 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration

De Krom, G., Severijns, Y., Vlieg, W. L., Arens, H. J. M., Van Golde, R. J. T., De Die-Smulders, C. E. M. & Van Osch, L. A. D. M., Jul 2020, In : Journal of Assisted Reproduction and Genetics. 37, 7, p. 1719-1727 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Verdonschot, J. A. J., Robinson, E. L., James, K. N., Mohamed, M. W., Claes, G. R. F., Casas, K., Vanhoutte, E. K., Hazebroek, M. R., Kringlen, G., Pasierb, M. M., van den Wijngaard, A., Glatz, J. F. C., Heymans, S. R. B., Krapels, I. P. C., Nahas, S., Brunner, H. G. & Szklarczyk, R., 8 Feb 2020, In : Molecular genetics & genomic medicine. 8, 2, 14 p., e1049.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

Kerkhofs, C., Stevens, S. J. C., Faust, S. N., Rae, W., Williams, A. P., Wurm, P., Ostern, R., Fockens, P., Wuerfel, C., Laass, M., Kokke, F., Stegmann, A. P. A. & Brunner, H. G., Jan 2020, In : Human Mutation. 41, 1, p. 196-202 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Presence of Genetic Variants Among Young Men With Severe COVID-19

van der Made, C. I., Simons, A., Schuurs-Hoeijmakers, J., van den Heuvel, G., Mantere, T., Kersten, S., van Deuren, R. C., Steehouwer, M., van Reijmersdal, S. V., Jaeger, M., Hofste, T., Astuti, G., Corominas Galbany, J., van der Schoot, V., van der Hoeven, H., Hagmolen Of ten Have, W., Klijn, E., van den Meer, C., Fiddelaers, J., de Mast, Q. & 10 others, Bleeker-Rovers, C. P., Joosten, L. A. B., Yntema, H. G., Gilissen, C., Nelen, M., van der Meer, J. W. M., Brunner, H. G., Netea, M. G., van de Veerdonk, F. L. & Hoischen, A., 18 Aug 2020, In : JAMA-Journal of the American Medical Association. 324, 7, p. 663-673 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience

Vriens, I. J. H., ter Welle-Butalid, E. M., de Boer, M., de Die-Smulders, C. E. M., Derhaag, J. G., Geurts, S. M. E., van Hellemone, I. E. G., Luiten, E. J. T., Dercksen, M. W., Lemaire, B. M. D., van Haaren, E. R. M., Vriens, B. E. P. J., van de Wouw, A. J., van Rie, A. M. G. H., Janssen-Engelen, S. L. E., van de Poel, M. H. W., Schepers-van der Sterren, E. E. M., van Golde, R. J. T. & Tjan-Heijnen, V. C. G., May 2020, In : Breast Cancer Research and Treatment. 181, 1, p. 77-86 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Primrose syndrome: Characterization of the phenotype in 42 patients

Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., Sandoval, R. L. & 10 others, Stumpel, C., Stuurman, K. E., Cordeddu, V., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C. & Hennekam, R. C., Jun 2020, In : Clinical Genetics. 97, 6, p. 890-901 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

TfamKnockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

Otten, A. B. C., Kamps, R., Lindsey, P., Gerards, M., Pendeville-Samain, H., Muller, M., van Tienen, F. H. J. & Smeets, H. J. M., 12 Jun 2020, In : Frontiers in Cell and Developmental Biology. 8, 11 p., 381.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2019

1 in 38 individuals at risk of a dominant medically actionable disease

Haer-Wigman, L., van der Schoot, V., Feenstra, I., Vulto-van Silfhout, A. T., Gilissen, C., Brunner, H. G., Vissers, L. E. L. M. & Yntema, H. G., Feb 2019, In : European Journal of Human Genetics. 27, 2, p. 325-330 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22-24 March 2019

Poulton, J., Steffann, J., Burgstaller, J., McFarland, R., Arbeithuber, B., Bengoa, J., Burgstaller, J., Chan, S., Chiaratti, M., Crouch, M., Dimond, R., Enriques, J. A., Gorman, G., Hyslop, L., Johnston, I., Kitto, J., Maguire, A., McFarland, R., Mitalipov, S., Otterloo, V. & 12 others, Poulton, J., Sallevelt, S., Smeets, H., Spits, C., St John, J., Steffann, J., Stewart, J., Stoneking, M., Thorburn, D., van der Veer, E., Wells, D. & Workshop Participants, Sep 2019, In : Neuromuscular Disorders. 29, 9, p. 725-733 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, Brouwer, O. F., Buerk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., Sep 2019, In : European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

A gain-of-function sodium channel beta 2-subunit mutation in painful diabetic neuropathy

Alsaloum, M., Estacion, M., Almomani, R., Gerrits, M. M., Boenhof, G. J., Ziegler, D., Malik, R., Ferdousi, M., Lauria, G., Merkies, I. S. J., Faber, C. G., Dib-Hajj, S., Waxman, S. G., de Greef, B., Hoeijmakers, J. G. J., Sopacua, M., Smeets, H. J. M., Vanoevelen, J. M., Eijkenboom, Lindsey, P. & 21 others, Almomani, R., Taiana, M., Marchi, M., Lombardi, R., Cazzato, D., Boneschi, F. M., Zauli, A., Clarelli, F., Santoro, S., Lopez, A. B., Quattrini, A., Cestele, S., Chever, O., Tavakoli, M., Malik, R., Kapetis, D., Xenakis, M. N., Mantegazza, M., Battiato, F., Strom, A. & PROPANE Study Grp, May 2019, In : Molecular Pain. 15, p. 1-14 14 p., 1744806919849802.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Suerink, M., Rodriguez-Girondo, M., van der Klift, H. M., Colas, C., Brugieres, L., Lavoine, N., Jongmans, M., Capella Munar, G., Evans, D. G., Farrell, M. P., Genuardi, M., Goldberg, Y., Gomez-Garcia, E., Heinimann, K., Hoell, J., Aretz, S., Jasperson, K. W., Kedar, I., Modi, M. B., Nikolaev, S. & 19 others, van Os, T. A. M., Ripperger, T., Rueda, D., Senter, L., Sjursen, W., Sunde, L., Therkildsen, C., Tibiletti, M. G., Trainer, A. H., Vos, Y. J., Wagner, A., Winship, I., Wimmer, K., Zimmermann, S. Y., Vasen, H. F., van Asperen, C. J., Houwing-Duistermaat, J. J., ten Broeke, S. W. & Nielsen, M., Dec 2019, In : Genetics in Medicine. 21, 12, p. 2706-2712 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Hellebrekers, D. M. E. I., Blakely, E. L., Hendrickx, A. T. M., Hardy, S. A., Hopton, S., Falkous, G., de Coo, I. F. M., Smeets, H. J. M., van der Beek, N. M. E. & Taylor, R. W., Sep 2019, In : Neuromuscular Disorders. 29, 9, p. 693-697 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

van Tienen, F., Lindsey, P., Kamps, M., Krapels, I., Ramaekers, F., Brunner, H., van den Wijngaard, A. & Broers, J., Mar 2019, In : European Journal of Human Genetics. 27, 3, p. 389–399 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1

Eijkenboom, I., Vanoevelen, J. M., Hoeijmakers, J. G. J., Wijnen, I., Gerards, M., Faber, C. G. & Smeets, H. J. M., Jul 2019, In : Mitochondrion. 47, p. 273-281 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening

Hens, K., Bonduelle, M., de Die-Smulders, C. & Liebaers, I., Dec 2019, In : European Journal of Medical Genetics. 62, 12, 7 p., 103604.

Research output: Contribution to journalArticleAcademicpeer-review

Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography

de Breet, L. H. M., Townend, G. S., Curfs, L. M. G., Kingma, H., Smeets, E. E. J., Lucieer, F., Widdershoven, J. & van de Berg, R., Mar 2019, In : European Journal of Paediatric Neurology. 23, 2, p. 262-269 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

CiliaCarta: An integrated and validated compendium of ciliary genes

van Dam, T. J. P., Kennedy, J., van der Lee, R., de Vrieze, E., Wunderlich, K. A., Rix, S., Dougherty, G. W., Lambacher, N. J., Li, C., Jensen, V. L., Leroux, M. R., Hjeij, R., Horn, N., Texier, Y., Wissinger, Y., van Reeuwijk, J., Wheway, G., Knapp, B., Scheel, J. F., Franco, B. & 28 others, Mans, D. A., van Wijk, E., Kepes, F., Slaats, G. G., Toedt, G., Kremer, H., Omran, H., Szymanska, K., Koutroumpas, K., Ueffing, M., Nguyen, T-M. T., Letteboer, S. J. F., Oud, M. M., van Beersum, S. E. C., Schmidts, M., Beales, P. L., Lu, Q., Giles, R. H., Szklarczyk, R., Russell, R. B., Gibson, T. J., Johnson, C. A., Blacque, O. E., Wolfrum, U., Boldt, K., Roepman, R., Hernandez-Hernandez, V. & Huynen, M. A., 16 May 2019, In : PLOS ONE. 14, 5, 32 p., 0216705.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Clinical and genetic characteristics of late-onset Huntington's disease

Oosterloo, M., Bijlsma, E., van Kuijk, S., Minkels, F. & de Die-Smulders, C. E. M., Apr 2019, In : Parkinsonism & Related Disorders. 61, p. 101-105 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 2019, In : Human Mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Diets, I. J., van der Donk, R., Baltrunaite, K., Waanders, E., Reijnders, M. R. F., Dingemans, A. J. M., Pfundt, R., Vulto-van Silfhout, A. T., Wiel, L., Gilissen, C., Thevenon, J., Perrin, L., Afenjar, A., Nava, C., Keren, B., Bartz, S., Peri, B., Beunders, G., Verbeek, N., van Gassen, K. & 18 others, Thiffault, I., Cadieux-Dion, M., Huerta-Saenz, L., Wagner, M., Konstantopoulou, V., Vodopiutz, J., Griese, M., Boel, A., Callewaert, B., Brunner, H. G., Kleefstra, T., Hoogerbrugge, N., de Vries, B. B. A., Hwa, V., Dauber, A., Hehir-Kwa, J. Y., Kuiper, R. P. & Jongmans, M. C. J., 4 Apr 2019, In : American Journal of Human Genetics. 104, 4, p. 758-766 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Blok, L. S., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., van Gassen, K. L., Firth, H., Tomkins, S., Bodek, S., Study, T. D. D. D., Ounap, K., Wojcik, M. H., Cunniff, C., Bergstrom, K., Powis, Z., Tang, S., Shinde, D. N., Au, C., Iglesias, A. D. & 19 others, Izumi, K., Leonard, J., Abou Tayoun, A., Baker, S. W., Tartaglia, M., Niceta, M., Dentici, M. L., Okamoto, N., Miyake, N., Matsumoto, N., Vitobello, A., Faivre, L., Philippe, C., Gilissen, C., Wiel, L., Pfundt, R., Deriziotis, P., Brunner, H. G. & Fisher, S. E., Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 403-412 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Platzer, K., Sticht, H., Edwards, S. L., Allen, W., Angione, K. M., Bonati, M. T., Brasington, C., Cho, M. T., Demmer, L. A., Falik-Zaccai, T., Gamble, C. N., Hellenbroich, Y., Iascone, M., Kok, F., Mahida, S., Mandel, H., Marquardt, T., McWalter, K., Panis, B., Pepler, A. & 12 others, Pinz, H., Ramos, L., Shinde, D. N., Smith-Hicks, C., Stegmann, A. P. A., Stoebe, P., Stumpel, C. T. R. M., Wilson, C., Lemke, J. R., Di Donato, N., Miller, K. G. & Jamra, R., 7 Feb 2019, In : American Journal of Human Genetics. 104, 2, p. 203-212 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., Nicolai, J., Schoots, J., Teunissen, M. W. A., Rouhl, R. P. W., Tan, I. Y., Yntema, H. G., Brunner, H. G., Pfundt, R., Stegmann, A. P., Kamsteeg, E-J., Schelhaas, H. J. & Willemsen, M. H., Jan 2019, In : Epilepsia. 60, 1, p. 155-164 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 31 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Buettner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M., Malone, S., Gecz, J., Stegmann, A. P. A. & Univ Washington Ctr Mendelian Geno, 15 Oct 2019, In : Nature Communications. 10, 17 p., 4679.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Effect of Plasmapheresis on Cholestatic Pruritus and Autotaxin Activity During Pregnancy

Heerkens, M., Dedden, S., Scheepers, H., Van Paassen, P., Masclee, A., de Die-Smulders, C., Olde Damink, S. W. M., Schaap, F. G., Jansen, P., Koek, G., Beuers, U. & Verbeek, J., Jun 2019, In : Hepatology. 69, 6, p. 2707-2710 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

van de Putte, R., Wijers, C. H. W., Reutter, H., Vermeulen, S. H., Marcelis, C. L. M., Brosens, E., Broens, P. M. A., Homberg, M., Ludwig, M., Jenetzky, E., Zwink, N., Sloots, C. E. J., de Klein, A., Brooke, A. S., Hofstra, R. M. W., Holsink, S. A. C., van Der Zanden, L. F. M., Galesloot, T. E., Tam, P. K-H., Steehouwer, M. & 8 others, Acuna-Hidalgo, R., van de Vorst, M., Kiemeney, L. A., Garcia-Barcelo, M-M., de Blaauw, I., Brunner, H. G., Roeleveld, N. & van Rooij, I. A. L. M., 28 May 2019, In : PLOS ONE. 14, 5, 12 p., 0217477.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Arts, P., Simons, A., AlZahrani, M. S., Yilmaz, E., AlIdrissi, E., van Aerde, K. J., Alenezi, N., AlGhamdi, H. A., AlJubab, H. A., Al-Hussaini, A. A., AlManjomi, F., Alsaad, A. B., Alsaleem, B., Andijani, A. A., Asery, A., Ballourah, W., Bleeker-Rovers, C. P., van Deuren, M., van der Flier, M., Gerkes, E. H. & 32 others, Gilissen, C., Habazi, M. K., Hehir-Kwa, J. Y., Henriet, S. S., Hoppenreijs, E. P., Hortillosa, S., Kerkhofs, C. H., Keski-Filppula, R., Lelieveld, S. H., Lone, K., MacKenzie, M. A., Mensenkamp, A. R., Moilanen, J., Nelen, M., ten Oever, J., Potjewijd, J., van Paassen, P., Schuurs-Hoeijmakers, J. H. M., Simon, A., Stokowy, T., van de Vorst, M., Vreeburg, M., Wagner, A., van Well, G. T. J., Zafeiropoulou, D., Zonneveld-Huijssoon, E., Veltman, J. A., van Zelst-Stams, W. A. G., Faqeih, E. A., van de Veerdonk, F. L., Netea, M. G. & Hoischen, A., 17 Jun 2019, In : Genome Medicine. 11, p. 1-15 15 p., 38.

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Open Access

Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome

van Dongen, L. C. M., Wingbermuhle, P. A. M., van der Veld, W. M., Stumpel, C., Kleefstra, T. & Egger, J. I. M., Jun 2019, In : Journal of Intellectual Disability Research. 63, 6, p. 498-506 9 p.

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Open Access

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy

Eijkenboom, I., Sopacua, M., Otten, A., Gerrits, M., Hoeijmakers, J., Waxman, S. G., Lombardi, R., Lauria, G., Merkies, I. S. J., J.M. Smeets, H., Faber, K., Vanoevelen, J. & PROPANE Study Grp, Jan 2019, In : Experimental Neurology. 311, p. 257-264 8 p.

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Open Access

Genetic architecture of subcortical brain structures in 38,851 individuals

Satizabal, C. L., Adams, H. H. H., Hibar, D. P., White, C. C., Knol, M. J., Stein, J. L., Scholz, M., Sargurupremraj, M., Jahanshad, N., Roshchupkin, G., Smith, A., Bis, J. C., Jian, X., Luciano, M., Hofer, E., Teumer, A., van der Lee, S. J., Yang, J., Yanek, L. R., Lee, T. & 269 others, Li, S., Hu, Y., Koh, J. Y., Eicher, J. D., Desrivieres, S., Arias-Vasquez, A., Chauhan, G., Athanasiu, L., Rentera, M. E., Kim, S., Hoehn, D., Armstrong, N. J., Chen, Q., Holmes, A. J., den Braber, A., Kloszewska, I., Andersson, M., Espeseth, T., Grimm, O., Abramovic, L., Alhusaini, S., Milaneschi, Y., Papmeyer, M., Axelsson, T., Ehrlich, S., Roiz-Santianez, R., Kraemer, B., Haberg, A. K., Jones, H. J., Pike, G. B., Stein, D. J., Stevens, A., Bralten, J., Vernooij, M. W., Harris, T. B., Filippi, I., Witte, A. V., Guadalupe, T., Wittfeld, K., Mosley, T. H., Becker, J. T., Nhat Trung Doan, Hagenaars, S. P., Saba, Y., Cuellar-Partida, G., Amin, N., Hilal, S., Nho, K., Mirza-Schreiber, N., Arfanakis, K., Becker, D. M., Ames, D., Goldman, A. L., Lee, P. H., Boomsma, D., Lovestone, S., Giddaluru, S., Le Hellard, S., Mattheisen, M., Bohlken, M. M., Kasperaviciute, D., Schmaal, L., Lawrie, S. M., Agartz, I., Walton, E., Tordesillas-Gutierrez, D., Davies, G. E., Shin, J., Ipser, J. C., Vinke, L. N., Hoogman, M., Jia, T., Burkhardt, R., Klein, M., Crivello, F., Janowitz, D., Carmichael, O., Haukvik, U. K., Aribisala, B. S., Schmidt, H., Strike, L. T., Cheng, C-Y., Risacher, S. L., Puetz, B., Fleischman, D. A., Assareh, A. A., Mattay, V. S., Buckner, R. L., Mecocci, P., Dale, A. M., Cichon, S., Boks, M. P., Matarin, M., Penninx, B. W. J. H., Calhoun, V. D., Chakravarty, M. M., Marquand, A. F., Macare, C., Masouleh, S. K., Oosterlaan, J., Amouyel, P., Hegenscheid, K., Rotter, J., Schork, A. J., Liewald, D. C. M., de Zubicaray, G., Wong, T. Y., Shen, L., Saemann, P. G., Brodaty, H., Roffman, J. L., de Geus, E. J. C., Tsolaki, M., Erk, S., van Eijk, K. R., Cavalleri, G. L., van der Wee, N. J. A., McIntosh, A. M., Gollub, R. L., Bulayeva, K. B., Bernard, M., Richards, J. S., Himali, J. J., Loeffler, M., Rommelse, N., Hoffmann, W., Westlye, L. T., Hernandez, M. C. V., Hansell, N. K., van Erp, T. G. M., Wolf, C., Kwok, J. B. J., Vellas, B., Heinz, A., Loohuis, L. M. O., Delanty, N., Ho, B-C., Ching, C. R. K., Shumskaya, E., Singh, B., Hofman, A., van der Meer, D., Homuth, G., Psaty, B. M., Bastin, M. E., Montgomery, G. W., Foroud, T. M., Reppermund, S., Hottenga, J-J., Simmons, A., Meyer-Lindenberg, A., Cahn, W., Whelan, C. D., van Donkelaar, M. M. J., Yang, Q., Hosten, N., Green, R. C., Thalamuthu, A., Mohnke, S., Pol, H. E. H., Lin, H., Jack, C. R., Schofield, P. R., Muehleisen, T. W., Maillard, P., Potkin, S. G., Wen, W., Fletcher, E., Toga, A. W., Gruber, O., Huentelman, M., Smith, G. D., Launer, L. J., Nyberg, L., Jonsson, E. G., Crespo-Facorro, B., Koen, N., Greve, D. N., Uitterlinden, A. G., Weinberger, D. R., Steen, V. M., Fedko, I. O., Groenewold, N. A., Niessen, W. J., Toro, R., Tzourio, C., Longstreth, W. T., Ikram, M. K., Smoller, J. W., van Tol, M-J., Sussmann, J. E., Paus, T., Lemaitre, H., Schroeter, M. L., Mazoyer, B., Andreassen, O. A., Holsboer, F., Depondt, C., Veltman, D. J., Turner, J. A., Pausova, Z., Schumann, G., van Rooij, D., Djurovic, S., Deary, I. J., McMahon, K. L., Mueller-Myhsok, B., Brouwer, R. M., Soininen, H., Pandolfo, M., Wassink, T. H., Cheung, J. W., Wolfers, T., Martinot, J-L., Zwiers, M. P., Nauck, M., Melle, I., Martin, N. G., Kanai, R., Westman, E., Kahn, R. S., Sisodiya, S. M., White, T., Saremi, A., van Bokhoven, H., Brunner, H. G., Voelzke, H., Wright, M. J., van't Ent, D., Noethen, M. M., Ophoff, R. A., Buitelaar, J. K., Fernandez, G., Sachdev, P. S., Rietschel, M., van Haren, N. E. M., Fisher, S. E., Beiser, A. S., Francks, C., Saykin, A. J., Mather, K. A., Romanczuk-Seiferth, N., Hartman, C. A., DeStefano, A. L., Heslenfeld, D. J., Weiner, M. W., Walter, H., Hoekstra, P. J., Nyquist, P. A., Franke, B., Bennett, D. A., Grabe, H. J., Johnson, A. D., Chen, C., van Duijn, C. M., Lopez, O. L., Fornage, M., Wardlaw, J. M., Schmidt, R., DeCarli, C., De Jager, P. L., Villringer, A., Debette, S., Gudnason, V., Medland, S. E., Shulman, J. M., Thompson, P. M., Seshadri, S. & Ikram, M. A., Nov 2019, In : Nature Genetics. 51, 11, p. 1624-+ 16 p.

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Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome

Reinders, M. G. H. C., Cosgun, B., Gijezen, L. M. C., van Oosterhoud, C. N., Kelleners-Smeets, N. W. J., Vermander, E., Vreeburg, M., Steijlen, P. M., Mosterd, K. & van Geel, M., Sep 2019, In : British Journal of Dermatology. 181, 3, p. 587-591 5 p.

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Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

de Jonge, M. M., Ritterhouse, L. L., de Kroon, C. D., Vreeswijk, M. P. G., Segal, J. P., Puranik, R., Rookus, M. A., Hogervorst, F. B. L., van Leeuwen, F. E., Adank, M. A., Schmidt, M. K., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Boere, I. A., van Asperen, C. J., Devilee, P., van der Luijt, R. B., van Cronenburg, T. C. T. E. F. & 23 others, Wevers, M. R., Mensenkamp, A. R., Ausems, M. G. E. M., Koudijs, M. J., Meijers-Heijboer, H. E. J., van Os, T. A. M., van Engelen, K., Gille, J. J. P., Gomez-Garcia, E. B., Blok, M. J., de Boer, M., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., van den Broek, E. C., Hollema, H., Smit, V. T. H. B. M., Howitt, B. E., Bosse, T. & HEBON Grp, 15 Dec 2019, In : Clinical Cancer Research. 25, 24, p. 7517-7526 10 p.

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Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis

Heijligers, M., Peeters, A., van Montfoort, A., Nijsten, J., Janssen, E., Gunnewiek, F. K., de Rooy, R., van Golde, R., Coonen, E., Meijer-Hoogeveen, M., Broekmans, F., van der Hoeven, M., Arens, Y. & de Die-Smulders, C., Jun 2019, In : Fertility and Sterility. 111, 6, p. 1151-1158 8 p.

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Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

van Tienen, F., Zelissen, R., Timmer, E., van Gisbergen, M., Lindsey, P., Quattrocelli, M., Sampaolesi, M., Mulder-den Hartog, E., de Coo, I. & Smeets, H., 21 Dec 2019, In : Stem Cell Research & Therapy. 10, 1, 10 p., 405.

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Open Access

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

Qian, F., Wang, S., Mitchell, J., McGuffog, L., Barrowdale, D., Leslie, G., Oosterwijk, J. C., Chung, W. K., Evans, D. G., Engel, C., Kast, K., Aalfs, C. M., Adank, M. A., Adlard, J., Agnarsson, B. A., Aittomaki, K., Alducci, E., Andrulis, I. L., Arun, B. K., Ausems, M. G. E. M. & 33 others, Azzollini, J., Barouk-Simonet, E., Barwell, J., Belotti, M., Benitez, J., Berger, A., Borg, A., Bradbury, A. R., Brunet, J., Buys, S. S., Caldes, T., Caligo, M. A., Campbell, I., Caputo, S. M., Chiquette, J., Claes, K. B. M., Collee, J. M., Couch, F. J., Coupier, I., Daly, M. B., Davidson, R., Diez, O., Domchek, S. M., Donaldson, A., Dorfling, C. M., Eeles, R., Feliubadalo, L., Foretova, L., Fowler, J., Gomez Garcia, E. B., GEMO Study Collaborators, HEBON & EMBRACE, Apr 2019, In : Journal of the National Cancer Institute. 111, 4, p. 350-364 15 p., 132.

Research output: Contribution to journalArticleAcademicpeer-review