Lotte Kleinendorst

Research output

Research output per year 2017 2019 2020 2021 2024

• 25 Article
• 6 Meeting Abstract
• 3 Review article
• 1 Chapter
• 4 More
  • 1 Comment/Letter to the editor
  • 1 Erratum/Corrigendum
  • 1 Letter
  • 1 Phd-Thesis - Research and graduation internal

Research output per year

Research output per year

Search results

• 2023

  Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

  Schmetz, A., Lüdecke, H-J., Surowy, H., Sivalingam, S., Bruel, A-L., Caumes, R., Charles, P., Chatron, N., Chrzanowska, K., Codina-Solà, M., Colson, C., Cuscó, I., Denommé-Pichon, A-S., Edery, P., Faivre, L., Green, A., Heide, S., Hsieh, T-C., Hustinx, A., Kleinendorst, L., & 30 othersKnopp, C., Kraft, F., Krawitz, P. M., Lasa-Aranzasti, A., Lesca, G., López-González, V., Maraval, J., Mignot, C., Neuhann, T., Netzer, C., Oehl-Jaschkowitz, B., Petit, F., Philippe, C., Posmyk, R., Putoux, A., Reis, A., Sánchez-Soler, M. J., Suh, J., Tkemaladze, T., Tran Mau Them, F., Travessa, A., Trujillano, L., Valenzuela, I., van Haelst, M. M., Vasileiou, G., Vincent-Delorme, C., Walther, M., Verde, P., Bramswig, N. C. & Wieczorek, D., 2023, (E-pub ahead of print) In: Human genetics.

  Research output: Contribution to journal › Article › Academic › peer-review

• Developmental epileptic encephalopathy in DLG4-related synaptopathy

  Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D., & 44 othersGreiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. V., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., 22 Dec 2023, (E-pub ahead of print) In: Epilepsia.

  Research output: Contribution to journal › Article › Academic › peer-review

• Developmental epileptic encephalopathy in DLG4-related synaptopathy

  Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., de Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D., & 44 othersGreiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., 2023, (E-pub ahead of print) In: Epilepsia.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population

  Abawi, O., Wahab, R. J., Kleinendorst, L., Blankers, L. A., Brandsma, A. E., van Rossum, E. F. C., van der Voorn, B., van Haelst, M. M., Gaillard, R. & van den Akker, E. L. T., 1 Nov 2023, In: Journal of pediatrics. 262, 113619.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder

  Welling, M. S., Kleinendorst, L., van Haelst, M. M. & van den Akker, E. L. T., 1 Oct 2023, In: Obesity Facts. 16, 5, p. 514-518 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2022

  Impact of the COVID-19 pandemic and related lockdown measures on lifestyle behaviors and wellbeing in children and adolescents with severe obesity

  Welling, M. S., Abawi, O., van den Eynde, E., van Rossum, E., Halberstadt, J., Brandsma, A., Kleinendorst, L., van den Akker, E. L. T. & van der Voorn, B., Mar 2022, In: Obesity Facts. 15, 2, p. 186-196 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  12 Citations (Scopus)

• Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant

  van der Valk, E. S., Kleinendorst, L., Delhanty, P. J. D., van der Voorn, B., Visser, J. A., van Haelst, M. M., de Graaff, L. C. G., Huisman, M., White, A., Ito, S., Wakamatsu, K., de Rijke, Y. B., van den Akker, E. L. T., Iyer, A. M. & van Rossum, E. F. C., 1 Sept 2022, In: Journal of clinical endocrinology and metabolism. 107, 9, p. e3699-e3704

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)

• SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

  University of Washington Center for Mendelian Genomics (UW-CMG) & Genomics England Research Consortium, Jun 2022, In: Genetics in medicine. 24, 6, p. 1261-1273 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  14 Citations (Scopus)
• 2021

  DLG4-related synaptopathy: a new rare brain disorder

  Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., Marcos-Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A. M., Bjerregaard, V. A., Bruel, A. L., Challman, T. D., Cogné, B., Coubes, C., de Man, S. A., Denommé-Pichon, A. S., Dye, T. J., & 66 othersElmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., MacKenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Müller, A. J., O’Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gómez-Puertas, P., Pujol, A. & Tümer, Z., May 2021, In: Genetics in medicine. 23, 5, p. 888-899 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  19 Citations (Scopus)

• Effects of glucagon-like peptide-1 analogue treatment in genetic obesity: A case series

  Welling, M. S., de Groot, C. J., Kleinendorst, L., van der Voorn, B., Burgerhart, J. S., van der Valk, E. S., van Haelst, M. M., van den Akker, E. L. T. & van Rossum, E. F. C., Dec 2021, In: Clinical obesity. 11, 6, p. e12481 e12481.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  10 Citations (Scopus)

• The diagnostic journey of a patient with prader–willi-like syndrome and a unique homozygous snurf-snrpn variant; bio-molecular analysis and review of the literature

  Pellikaan, K., van Woerden, G. M., Kleinendorst, L., Rosenberg, A. G. W., Horsthemke, B., Grosser, C., van Zutven, L. J. C. M., van Rossum, E. F. C., van der Lely, A. J., Resnick, J. L., Brüggenwirth, H. T., van Haelst, M. M. & de Graaff, L. C. G., 1 Jun 2021, In: Genes. 12, 6, 875.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)
• 2020

  Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity

  Blackburn, P. R., Sullivan, A. E., Gerassimou, A. G., Kleinendorst, L., Bersten, D. C., Cooiman, M., Harris, K. G., Wierenga, K. J., Klee, E. W., van Gerpen, J. A., Ross, O. A., van Haelst, M. M., Whitelaw, M. L., Caulfield, T. R. & Atwal, P. S., 1 Jan 2020, In: The Journal of clinical endocrinology and metabolism. 105, 1, p. 1-7 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  10 Citations (Scopus)

• Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients With Morbid Obesity

  Cooiman, MI., Kleinendorst, L., Aarts, E. O., Janssen, I. M. C., Ploos van Amstel, H. K., Blakemore, A. I., Hazebroek, E. J., Meijers-Heijboer, EJ., van der Zwaag, B., Berends, F. J. & van Haelst, MM., 1 Feb 2020, In: Obesity Surgery. 30, 2, p. 470-477 8 p., 10.1007/s11695-019-04184-w.

  Research output: Contribution to journal › Article › Academic › peer-review
  43 Citations (Scopus)

• Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

  Kleinendorst, L., Abawi, O., van der Voorn, B., Jongejan, M. H. T. M., Brandsma, A. E., Visser, J. A., van Rossum, E. F. C., van der Zwaag, B., Alders, M., Boon, E. M. J., van Haelst, M. M. & van den Akker, E. L. T., 1 May 2020, In: PLOS ONE. 15, 5, e0232990.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  25 Citations (Scopus)

• Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74

  Kleinendorst, L., Alsters, S. I. M., Abawi, O., Waisfisz, Q., Boon, E. M. J., van den Akker, E. L. T. & van Haelst, M. M., 1 Jul 2020, In: European journal of human genetics. 28, 7, p. 943-946 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  16 Citations (Scopus)

• Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome: Parents' perspectives on a susceptibility copy number variation syndrome

  Kleinendorst, L., van den Heuvel, L. M., Henneman, L. & van Haelst, M. M., 1 Sept 2020, In: European journal of human genetics. 28, 9, p. 1196-1204 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  11 Citations (Scopus)
• 2019

  Een meisje met het 16p11.2-deletiesyndroom

  Translated title of the contribution: A girl with 16p11.2 deletion syndromeKleinendorst, L., Sno, M. & van Haelst, M. M., 1 Jan 2019, In: Nederlands Tijdschrift voor Geneeskunde. 163, 14, D3441.

  Research output: Contribution to journal › Article › Professional

  3 Citations (Scopus)

• 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. 12, p. 369-384

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  6 Citations (Scopus)

• Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation

  Cooiman, M. I., Kleinendorst, L., van der Zwaag, B., Janssen, I. M. C., Berends, F. J. & van Haelst, M. M., 1 Jun 2019, In: Molecular genetics and genomic medicine. 7, 6, e00632.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• Leptin receptor deficiency: A systematic literature review and prevalence estimation based on population genetics

  Kleinendorst, L., Abawi, O., van der Kamp, H. J., Alders, M., Meijers-Heijboer, H. E. J., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., 1 Jan 2019, In: European journal of endocrinology. 182, 1, p. 47-56 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  44 Citations (Scopus)

• The pathogenesis of obesity

  Oussaada, S. M., van Galen, K. A., Cooiman, M. I., Kleinendorst, L., Hazebroek, E. J., van Haelst, M. M., ter Horst, K. W. & Serlie, M. J., 1 Mar 2019, In: Metabolism: Clinical and Experimental. 92, p. 26-36 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  104 Citations (Scopus)
• 2018

  Genetic obesity: Next-generation sequencing results of 1230 patients with 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., Sept 2018, In: Journal of medical genetics. 55, 9, p. 578-586 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  55 Citations (Scopus)

• 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 journal › Article › Academic › peer-review
  8 Citations (Scopus)
• 2017

  Genetische obesitas

  Translated title of the contribution: Genetic obesity: new diagnostic optionsde 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, p. D688

  Research output: Contribution to journal › Article › Academic › peer-review

  2 Citations (Scopus)

• 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 journal › Article › Academic › peer-review
  16 Citations (Scopus)