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Mieke M. van Haelst

department of human genetics

48H-index
210Paper Count
8.5KCitation Count
Published Papers 81
Publication Date
Socioeconomic position, genetic susceptibility, and epigenetic profiles in obesity across the life course: a systematic review
err2026-08-03
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PREAI
errJ. van Uhm; R. E. H. Meeusen; P. R. Jansen; M. M. van Haelst; E. F. C. van Rossum; E. L. T. van den Akker
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Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature
err2026-01-05
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errLiselot van der Laan; Martin A. Haagmans; Andrea Venema; Jennifer Kerkhof; Michael A. Levy; Silvana Briuglia; Pilar Caro; Sebastian Sailer; Christian P. Schaaf; Bekim Sadikovic; Mieke M. van Haelst; Mariëlle van Gijn; Mariëlle Alders; Peter Henneman
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Polygenic risk scores in routine genetic diagnostics: what lies ahead?
err2025-11-20
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errLauffer, Peter; Van Weelden, W.; Van Haelst, M. M.; Jansen, Philip R.
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Genetic testing of common and rare variants in dementia patients from a memory clinic
err2025-10-15
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errItziar de Rojas; Marc Hulsman; Niccoló Tesi; Rosalina M.L. van Spaendonk; Jetske van der Schaar; Janna I.R. Dijkstra; Wiesje M. van der Flier; Fred van Ruissen; Philip R. Jansen; Marcel T. Reinders; Mieke M. van Haelst; Yolande A.L. Pijnenburg; Maria Victoria Fernandez; Agustín Ruiz; Henne H. Holstege; Sven J. van der Lee
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Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs
err2025-09-29
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PREAI
errAnnelieke R. Müller; Bibiche den Hollander; Agnies M. van Eeghen; Peter M. van de Ven; Martina Cornel; Mieke van Haelst; Jan J. Sprengers; Hilgo Bruining; Marion M. Brands; Clara D. van Karnebeek
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Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
err2025-09-18
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errLiselot van der Laan; Raissa Relator; Irene Valenzuela; Adri N. Mul; Mariëlle Alders; Michael A. Levy; Jennifer Kerkhof; Jessica Rzasa; Anna M. Cueto-González; Amaia Lasa-Aranzasti; Cristina Cea-Arestin; Marcel M.A.M. Mannens; Mieke M. van Haelst; Eduardo F. Tizzano; Bekim Sadikovic; Peter Henneman
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Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome
err2025-05-21
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errKleinendorst, Lotte; Siegelaar, Sarah E.; Roessler, Helen I.; Meiwand, Lema; van den Boogaard, Malou; de Bruin-Bon, Rianne H. A. C. M.; van Duinen, Kirsten F.; Planken, R. Nils; Jaspars, Elisabeth H.; Kemperman, Patrick M. J. H.; Bouma, Berto J.; Nichols, Colin G.; Bekkenk, Marcel W.; van Haaften, Gijs W.; van Haelst, Mieke M.
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Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study
errOBESITY
IF4.7
err2025-04-15
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errvan Der Walle, Eline E. P. L.; de Groot, Cornelis J.; Kleinendorst, Lotte; de Klerk, Hester; Welling, Mila S.; Abawi, Ozair; Meeusen, Renate E. H.; Boon, Mariette R.; van Rossum, Elisabeth F. C.; van Haelst, Mieke M.
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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
err2025-01-01
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errvan der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
err2024-09-16
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errMuller, Annelieke R.; Boot, Erik; Notermans, Stijn B.; Schuengel, Carlo; Henneman, Lidewij; Cornel, Martina C.; van Haelst, Mieke M.; Alders, Marielle; van Karnebeek, Clara D. M.; Bijl, Bas; Wijburg, Frits A.; van Eeghen, Agnies M.
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Treatment with liraglutide or naltrexone-bupropion in patients with genetic obesity: a real-world study
err2024-08-01
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errWelling, Mila S.; de Groot, Cornelis J.; Mohseni, Mostafa; Meeusen, Renate E. H.; Boon, Mariette R.; van Haelst, Mieke M.; van den Akker, Erica L. T.; van Rossum, Elisabeth F. C.
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The utility of obesity polygenic risk scores from research to clinical practice: A review
err2024-07-29
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errJansen, Philip R.; Vos, Niels; van Uhm, Jorrit; Dekkers, Ilona A.; van Der Meer, Rieneke; Mannens, Marcel M. A. M.; van Haelst, Mieke M.
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Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications
err2024-07-24
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errGur, Ruben C.; Bearden, Carrie E.; Jacquemont, Sebastien; Swillen, Ann; van Amelsvoort, Therese; van den Bree, Marianne; Vorstman, Jacob; Sebat, Jonathan; Ruparel, Kosha; Gallagher, Robert Sean; Mcclellan, Emily; White, Lauren; Crowley, Terrence Blaine; Giunta, Victoria; Kushan, Leila; O'Hora, Kathleen; Verbesselt, Jente; Vandensande, Ans; Vingerhoets, Claudia; van Haelst, Mieke; Hall, Jessica; Harwood, Janet; Chawner, Samuel J. R. A.; Patel, Nishi; Palad, Katrina; Hong, Oanh; Guevara, James; Martin, Charles Olivier; Jizi, Khadije; Belanger, Anne-Marie; Scherer, Stephen W.; Bassett, Anne S.; McDonald-McGinn, Donna M.; Gur, Raquel E.
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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
err2024-07-01
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errvan der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananilia; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Ozlem; Zweier, Christiane; Palomares-Bralo, Maria; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amelie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M. A. M.; Alders, Marielle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
err2024-07-01
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errOAAI
errDeb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic
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Dementia in Rare Genetic Neurodevelopmental Disorders
err2024-06-11
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errKwetsie, Hadassa; van Schaijk, Malu; van der Lee, Sven; Maes-Festen, Dederieke; Ten Hoopen, Leontine W.; van Haelst, Mieke M.; Coesmans, Michael; van den Berg, Esther; De Wit, Marie Claire Y.; Pijnenburg, Yolande; Aronica, Eleonora; Boot, Erik; Van Eeghen, Agnies M.
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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
err2024-05-24
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errVos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
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MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels
err2024-04-03
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errRodriguez Rondon, Alejandra, V; Welling, Mila S.; van den Akker, Erica L. T.; van Rossum, Elisabeth F. C.; Boon, Elles M. J.; van Haelst, Mieke M.; Delhanty, Patric J. D.; Visser, Jenny A.
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DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
err2024-03-01
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errvan der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Lauffer, Peter; Mcconkey, Haley; Caro, Pilar; Relator, Raissa; Levy, Michael A.; Bhai, Pratibha; Mignot, Cyril; Keren, Boris; Briuglia, Silvana; Sobering, Andrew K.; Li, Dong; Vissers, Lisenka E. L. M.; Dingemans, Alexander J. M.; Valenzuela, Irene; Verberne, Eline A.; Misra-Isrie, Mala; Zwijnenburg, Petra J. G.; Waisfisz, Quinten; Alders, Marielle; Sailer, Sebastian; Schaaf, Christian P.; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
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Developmental epileptic encephalopathy in DLG4-related synaptopathy
err2024-02-29
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errKassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernandez, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernandez-Jaen, Alberto; Fernandez-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gomez-Andres, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpaeae, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Moller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodriguez-Palmero, Agusti; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tuemer, Zeynep; Rubboli, Guido
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