Mieke van Haelst

DR.

20172019
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Research Output 2017 2019

2019

Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity

Savas, M., Wester, V. L., Visser, J. A., Kleinendorst, L., van der Zwaag, B., van Haelst, M. M., van den Akker, E. L. T. & van Rossum, E. F. C., 2019, In : Obesity Facts. p. 369-384

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., Isidor, B., le Caignec, C. D., Saenz, M. S., Pedersen, R. C., Morgan, T. M., Pfotenhauer, J. P., Xia, F., Bi, W., Kang, S-H. L., Patel, A. & 36 othersKrantz, I. D., Raible, S. E., Smith, W., Cristian, I., Torti, E., Juusola, J., Millan, F., Wentzensen, I. M., Person, R. E., Küry, S. B., Bézieau, S., Uguen, K. V., Férec, C., Munnich, A., van Haelst, M., Lichtenbelt, K. D., van Gassen, K., Hagelstrom, T., Chawla, A., Perry, D. L., Taft, R. J., Jones, M., Masser-Frye, D., Dyment, D., Venkateswaran, S., Li, C., Escobar, L. F., Horn, D., Spillmann, R. C., Peña, L., Wierzba, J., Strom, T. M., Parenti, I., Kaiser, F. J., Ehmke, N. & Schaaf, C. P., 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

van de Maele, K., Smulders, C., Ecury-Goossen, G., Rosina-Angelista, I., Redeker, E. & van Haelst, M., 2019, In : Clinical Dysmorphology. 28, 2, p. 57-62

Research output: Contribution to journalArticleAcademicpeer-review

2018

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element

Bouman, A., van Haelst, M. & van Spaendonk, R., 2018, In : Clinical Dysmorphology. 27, 2, p. 58-62

Research output: Contribution to journalArticleAcademicpeer-review

Cantú syndrome, the changing phenotype: A report of the two oldest Dutch patients

Roessler, H. I., Volker-Touw, C. M. L., Terhal, P. A., van Haaften, G. & van Haelst, M. M., 2018, In : Clinical Dysmorphology. 27, 3, p. 78-83

Research output: Contribution to journalArticleAcademicpeer-review

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Stokman, M. F., van der Zwaag, B., van de Kar, N. C. A. J., van Haelst, M. M., van Eerde, A. M., van der Heijden, J. W., Kroes, H. Y., Ippel, E., Schulp, A. J. A., van Gassen, K. L., van Rooij, I. A. L. M., Giles, R. H., Beales, P. L., Roepman, R., Arts, H. H., Bongers, E. M. H. F., Renkema, K. Y., Knoers, N. V. A. M., van Reeuwijk, J. & Lilien, M. R., 2018, In : Pediatric Nephrology. 33, 10, p. 1701-1712

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

van den Akker, W. M. R., Brummelman, I., Martis, L. M., Timmermans, R. N., Pfundt, R., Kleefstra, T., Willemsen, M. H., Gerkes, E. H., Herkert, J. C., van Essen, A. J., Rump, P., Vansenne, F., Terhal, P. A., van Haelst, M. M., Cristian, I., Turner, C. E., Cho, M. T., Begtrup, A., Willaert, R., Fassi, E. & 4 othersvan Gassen, K. L. I., Stegmann, A. P. A., de Vries, B. B. A. & Schuurs-Hoeijmakers, J. H. M., 2018, In : Clinical Genetics. 93, 5, p. 1000-1007

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Tessadori, F., Roessler, H. I., Savelberg, S. M. C., Chocron, S., Kamel, S. M., Duran, K. J., van Haelst, M. M., van Haaften, G. & Bakkers, J., 2018, In : Disease Models and Mechanisms. 11, 10, dmm035469.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Kleinendorst, L., Massink, M. P. G., Cooiman, M. I., Savas, M., van der Baan-Slootweg, O. H., Roelants, R. J., Janssen, I. C. M., Meijers-Heijboer, H. J., Knoers, N. V. A. M., Ploos van Amstel, H. K., van Rossum, E. F. C., van den Akker, E. L. T., van Haaften, G., van der Zwaag, B. & van Haelst, M. M., Sep 2018, In : Journal of Medical Genetics. 55, 9, p. 578-586 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation

Kleinendorst, L., Pi Castán, G., Caro-Llopis, A., Boon, E. M. J. & van Haelst, M. M., 1 Nov 2018, In : American Journal of Medical Genetics, Part A. 176, 11, p. 2456-2459 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

Van Haaften-Visser, D. Y., Harakalova, M., Mocholi, E., Van Montfrans, J. M., Elkadri, A., Rieter, E., Fiedler, K., Van Hasselt, P. M., Triffaux, E. M. M., Van Haelst, M. M., Nijman, I. J., Kloosterman, W. P., Nieuwenhuis, E. E. S., Muise, A. M., Cuppen, E., Houwen, R. H. J. & Coffer, P. J., 12 May 2017, In : Journal of Biological Chemistry. 292, 19, p. 7904-7920 17 p.

Research output: Contribution to journalArticleAcademicpeer-review

Clinical utility gene card for: Cantú syndrome

Kirk, E. P., Scurr, I., Van Haaften, G., Van Haelst, M. M., Nichols, C. G., Williams, M., Smithson, S. F. & Grange, D. K., 1 Apr 2017, In : European Journal of Human Genetics. 25, 4, p. e1-e4

Research output: Contribution to journalArticleAcademicpeer-review

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Depienne, C., Nava, C., Keren, B., Heide, S., Rastetter, A., Passemard, S., Chantot-Bastaraud, S., Moutard, M. L., Agrawal, P. B., VanNoy, G., Stoler, J. M., Amor, D. J., Billette de Villemeur, T., Doummar, D., Alby, C., Cormier-Daire, V., Garel, C., Marzin, P., Scheidecker, S., de Saint-Martin, A. & 31 othersHirsch, E., Korff, C., Bottani, A., Faivre, L., Verloes, A., Orzechowski, C., Burglen, L., Leheup, B., Roume, J., Andrieux, J., Sheth, F., Datar, C., Parker, M. J., Pasquier, L., Odent, S., Naudion, S., Delrue, M. A., Le Caignec, C., Vincent, M., Isidor, B., Renaldo, F., Stewart, F., Toutain, A., Koehler, U., Häckl, B., von Stülpnagel, C., Kluger, G., Møller, R. S., Pal, D., van Haelst, M. M. & DDD Study, 1 Apr 2017, In : Human Genetics. 136, 4, p. 463-479 17 p.

Research output: Contribution to journalArticleAcademicpeer-review

Genetische obesitas: NIEUWE DIAGNOSTISCHE MOGELIJKHEDEN

De Vries, T. I., Alsters, S. I. M., Kleinendorst, L., Van Haaften, G., Van Der Zwaag, B. & Van Haelst, M. M., 2017, In : Nederlands Tijdschrift voor Geneeskunde. 161, 19, D688.

Research output: Contribution to journalArticleProfessional

GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer, K., Yuan, H., Schütz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H. O., Helbig, K. L., Tang, S., Willing, M. C., Tinkle, B. T., Adams, D. J., Depienne, C., Keren, B., Mignot, C., Frengen, E., Strømme, P., Biskup, S., Döcker, D. & 55 othersStrom, T. M., Mefford, H. C., Myers, C. T., Muir, A. M., LaCroix, A., Sadleir, L., Scheffer, I. E., Brilstra, E., van Haelst, M. M., van der Smagt, J. J., Bok, L. A., Møller, R. S., Jensen, U. B., Millichap, J. J., Berg, A. T., Goldberg, E. M., De Bie, I., Fox, S., Major, P., Jones, J. R., Zackai, E. H., Abou Jamra, R., Rolfs, A., Leventer, R. J., Lawson, J. A., Roscioli, T., Jansen, F. E., Ranza, E., Korff, C. M., Lehesjoki, A. E., Courage, C., Linnankivi, T., Smith, D. R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W. H., Tarnopolsky, M. A., Brady, L. I., Wolff, M., Dondit, L., Pedro, H. F., Parisotto, S. E., Jones, K. L., Patel, A. D., Franz, D. N., Vanzo, R., Marco, E., Ranells, J. D., Di Donato, N., Dobyns, W. B., Laube, B., Traynelis, S. F. & Lemke, J. R., 1 Jul 2017, In : Journal of Medical Genetics. 54, 7, p. 460-470 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Lipstein, N., Verhoeven-Duif, N. M., Michelassi, F. E., Calloway, N., Van Hasselt, P. M., Pienkowska, K., Van Haaften, G., Van Haelst, M. M., Van Empelen, R., Cuppen, I., Van Teeseling, H. C., Evelein, A. M. V., Vorstman, J. A., Thoms, S., Jahn, O., Duran, K. J., Monroe, G. R., Ryan, T. A., Taschenberger, H., Dittman, J. S. & 4 othersRhee, J. S., Visser, G., Jans, J. J. & Brose, N., 1 Mar 2017, In : Journal of Clinical Investigation. 127, 3, p. 1005-1018 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

Loviglio, M. N., Arbogast, T., Jønch, A. E., Collins, S. C., Popadin, K., Bonnet, C. S., Giannuzzi, G., Maillard, A. M., Jacquemont, S. & 16p11.2 Consortium, 5 Oct 2017, In : American journal of human genetics. 101, 4, p. 564-577 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Young girl with severe early-onset obesity and hyperphagia

Kleinendorst, L., Van Haelst, M. M. & Van Den Akker, E. L. T., 2017, In : BMJ Case Reports. 2017, 221067.

Research output: Contribution to journalArticleAcademicpeer-review