Authors: Kleinendorst, Lotte, Abawi, Ozair, Vos, Niels, van der Valk, Eline S., Maas, Saskia M., Morgan, Angela T., Hildebrand, Michael S., da Silva, Jorge D., Florijn, Ralph J., Lauffer, Peter, Visser, Jenny A., van Rossum, Elisabeth F. C., van den Akker, Erica L. T., van Haelst, Mieke M.
Superior Title: Kleinendorst , L , Abawi , O , Vos , N , van der Valk , E S , Maas , S M , Morgan , A T , Hildebrand , M S , da Silva , J D , Florijn , R J , Lauffer , P , Visser , J A , van Rossum , E F C , van den Akker , E L T & van Haelst , M M 2024 , ' GNB1 and obesity : Evidence for a correlation between haploinsufficiency and syndromic obesity ' , Clinical obesity . https://doi.org/10.1111/cob.12661
Authors: van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid S., Mannens, Marcel M. A. M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A.
Superior Title: van der Laan , L , Lauffer , P , Rooney , K , Silva , A , Haghshenas , S , Relator , R , Levy , M A , Trajkova , S , Huisman , S A , Bijlsma , E K , Kleefstra , T , van Bon , B W , Baysal , Ö , Zweier , C , Palomares-Bralo , M , Fischer , J , Szakszon , K , Faivre , L , Piton , A , Mesman , S , Hochstenbach , R , Elting , M W , van Hagen , ....
Authors: Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C. E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simarro, Fernando Santos, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.
Contributors: S. Haghshena, H.J. Bout, J.M. Schijn, M.A. Levy, J. Kerkhof, P. Bhai, H. Mcconkey, Z.A. Jenkin, E.M. William, B.J. Halliday, S.A. Huisman, P. Lauffer, V. de Waard, L. Witteveen, S. Banka, A.F. Brady, E. Galazzi, J. van Gil, A.C.E. Hurst, F.J. Kaiser, D. Lacombe, A.F. Martinez-Monseny, P. Fergelot, F.P. Monteiro, I. Parenti, L. Persani, F.S. Simarro, B.N. Simpson, M. Alder, S.P. Robertson, B. Sadikovic, L.A. Menke
Subject Terms: CBP, CREB-binding protein, CREBBP, DNA methylation, E1A-associated protein p300, EP300, ID4, MKHK, Menke-Hennekam syndrome, RSTS, Rubinstein-Taybi syndrome, TAZ2, ZZ, episignature, intellectual disability, intrinsically disordered linker, p300, zinc finger domain, Settore MED/13 - Endocrinologia, Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/38553851; volume:5; issue:3; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/2434/1043590
Authors: Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.
Superior Title: In Human Genetics and Genomics Advances 18 July 2024 5(3)
Authors: van 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, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Superior Title: In Genetics in Medicine March 2024 26(3)
Authors: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A., Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, de Villemeur, Thierry B., Volker-Touw, Catharina M.L., Verbeek, Nienke, van der Smagt, Jasper J., Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni B., Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Superior Title: In Genetics in Medicine August 2023 25(8)
Authors: Krzyzewska, Izabela M., Lauffer, Peter, Mul, Adri N., van der Laan, Liselot, Yim, Andrew Y. F. Li, Cobben, Jan Maarten, Niklinski, Jacek, Chomczyk, Monika A., Smigiel, Robert, Mannens, Marcel M. A. M., Henneman, Peter
Superior Title: Krzyzewska , I M , Lauffer , P , Mul , A N , van der Laan , L , Yim , A Y F L , Cobben , J M , Niklinski , J , Chomczyk , M A , Smigiel , R , Mannens , M M A M & Henneman , P 2023 , ' Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD) ' , International Journal of Molecular Sciences , vol. 24 , no. 7 , 6601 . https://doi.org/10.3390/ijms24076601
Authors: Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A.M., Baars, Marieke J.H., Dulfer, Eelco, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P.C., van de Laar, Ingrid M.B.H., Loeys, Bart, Spaans, Alexander M.J., Warnink-Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A.
Superior Title: Lauffer , P , Pals , G , Zwinderman , A H , Postema , F A M , Baars , M J H , Dulfer , E , Hilhorst-Hofstee , Y , Houweling , A C , Kempers , M , Krapels , I P C , van de Laar , I M B H , Loeys , B , Spaans , A M J , Warnink-Kavelaars , J , de Waard , V , Wit , J M & Menke , L A 2023 , ' Growth charts for Marfan syndrome in the Netherlands and analysis of ....
File Description: application/pdf
Availability:
https://doi.org/10.1002/ajmg.a.63047
https://pure.eur.nl/en/publications/45609841-0999-47e6-bc0f-1fb7a15711aa
https://pure.eur.nl/ws/files/79281623/Growth_charts_for_Marfan_syndrome_in_the_Netherlands_and_analysis_of_genotype_phenotype_relationships.pdf
http://www.scopus.com/inward/record.url?scp=85143231400&partnerID=8YFLogxK
Authors: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, Mcconkey, Haley, Kerkhof, Jennifer, Levy, Michael, A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew, L, Vissers, Lisenka, E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, J V, Wieczorek, Dagmar, Bramswig, Nuria, C, Herget, Theresia, González, Vanesa, López, Santos-Simarro, Fernando, Tørring, Pernille, M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, van Esch, Hilde, Mannens, Marcel, M a M, Sadikovic, Bekim, van Haelst, Mieke, M, Henneman, Peter
Contributors: Amsterdam University Medical Centers (Amsterdam UMC), Western University London, ON, Canada, Amsterdam UMC - Amsterdam University Medical Center, Emma Children’s Hospital, Centre for Human Genetics, University Hospitals Leuven, Catholic University of Leuven, The Greenwood Genetic Center, Radboud University Medical Center Nijmegen, Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca Murcia, Hospital Universitario La Paz, Odense University Hospital (OUH), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale CHU Nantes, Centre hospitalier universitaire de Nantes (CHU Nantes), Sorbonne Université (SU), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Jérôme Lejeune
Superior Title: ISSN: 1661-6596.
Subject Terms: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/36430143; hal-04098955; https://hal.science/hal-04098955; https://hal.science/hal-04098955/document; https://hal.science/hal-04098955/file/VanderLaan-2022.pdf; PUBMED: 36430143
Authors: Joustra, Vincent, Li Yim, Andrew Y F, van Gennep, Sara, Hageman, Ishtu, de Waard, Tristan, Levin, Evgeni, Lauffer, Peter, de Jonge, Wouter, Henneman, Peter, Löwenberg, Mark, D’Haens, Geert
Contributors: Helmsley Foundation, Pfizer
Superior Title: Journal of Crohn's and Colitis ; ISSN 1873-9946 1876-4479
Subject Terms: Gastroenterology, General Medicine
Availability: https://doi.org/10.1093/ecco-jcc/jjad129
Authors: Lauffer, Peter, Heinen, Charlotte A., Goorsenberg, Annika W. M., Malekzadeh, Arjan, Henneman, Peter, Heijboer, Annemieke C., Zwaveling-Soonawala, Nitash, Boelen, Anita, Paul van Trotsenburg, A. S.
Superior Title: Lauffer , P , Heinen , C A , Goorsenberg , A W M , Malekzadeh , A , Henneman , P , Heijboer , A C , Zwaveling-Soonawala , N , Boelen , A & Paul van Trotsenburg , A S 2024 , ' Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval : A Systematic Review and Meta-Analysis of Individual Participant Data ' , Thyroid . https://doi.org/10.1089/thy.2023.0562
Authors: Lauffer, Peter, van Trotsenburg, A. S. Paul, Zwaveling-Soonawala, NitashAff1
Superior Title: European Journal of Pediatrics. 180(7):2333-2338
Authors: Hu, Yalan, Lauffer, Peter, Stewart, Michelle, Codner, Gemma, Mayerl, Steffen, Heuer, Heike, Ng, Lily, Forrest, Douglas, van Trotsenburg, Paul, Jongejan, Aldo, Fliers, Eric, Hennekam, Raoul, Boelen, Anita
Superior Title: Hu , Y , Lauffer , P , Stewart , M , Codner , G , Mayerl , S , Heuer , H , Ng , L , Forrest , D , van Trotsenburg , P , Jongejan , A , Fliers , E , Hennekam , R & Boelen , A 2022 , ' An animal model for Pierpont syndrome : a mouse bearing the Tbl1xr1Y446C/Y446C mutation ' , Human Molecular Genetics , vol. 31 , no. 17 , pp. 2951-2963 . https://doi.org/10.1093/hmg/ddac086
Authors: Lauffer, Peter, Boudin, Eveline, Van Der Kaay, Daniëlle C.M., Koene, Saskia, Van Haeringen, Arie, Van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C.R., Mortier, Geert, Espiner, Eric A., Van Duyvenvoorde, Hermine A.
Superior Title: Lauffer , P , Boudin , E , Van Der Kaay , D C M , Koene , S , Van Haeringen , A , Van Tellingen , V , Van Hul , W , Prickett , T C R , Mortier , G , Espiner , E A & Van Duyvenvoorde , H A 2022 , ' Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature ' , Journal of the Endocrine Society , vol. 6 , no. 4 , bvac019 . https://doi.org/10.1210/jendso/bvac019
Subject Terms: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
File Description: application/pdf
Authors: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L., Vissers, Lisenka E.L.M., Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J.V., Wieczorek, Dagmar, Bramswig, Nuria C., Herget, Theresia, González, Vanesa López, Santos-Simarro, Fernando, Tørring, Pernille M., Denomme-Pichon, Anne Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre Yves, Misra-Isrie, Mala, Van Esch, Hilde, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Superior Title: van der Laan , L , Rooney , K , Alders , M , Relator , R , McConkey , H , Kerkhof , J , Levy , M A , Lauffer , P , Aerden , M , Theunis , M , Legius , E , Tedder , M L , Vissers , L E L M , Koene , S , Ruivenkamp , C , Hoffer , M J V , Wieczorek , D , Bramswig , N C , Herget , T , González , V L , Santos-Simarro , F , Tørring , P M ....
Subject Terms: Clark–Baraitser syndrome, DNA methylation, episignature, intellectual disability, TRIP12
File Description: application/pdf
Authors: Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., van de Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A.
Superior Title: Am J Med Genet A
Subject Terms: Original Articles
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099852/; http://www.ncbi.nlm.nih.gov/pubmed/36380655; http://dx.doi.org/10.1002/ajmg.a.63047
Authors: Garrelfs, Mark R., Rinne, Tuula, Hillebrand, Jacquelien J., Lauffer, Peter, Bijlsma, Merijn W., der Grinten, Hedi L. Claahsen-van, de Leeuw, Nicole, Finken, Martijn J. J., Rotteveel, Joost, Zwaveling-Soonawala, Nitash, Nieuwdorp, Max, van Trotsenburg, A. S. Paul, Mooij, Christiaan F.
Superior Title: Journal of Clinical Research in Pediatric Endocrinology; Mar2024, Vol. 16 Issue 1, p95-101, 7p
Subject Terms: RARE diseases, BIOCHEMISTRY, OXIDOREDUCTASES, GENETIC mutation, HYPOALDOSTERONISM, PHENOTYPES, GENETICS, SEQUENCE analysis, SYMPTOMS
Authors: Lauffer, Peter, Zwaveling-Soonawala, Nitash, Naafs, Jolanda C., Boelen, Anita, van Trotsenburg, A. S. Paul
Superior Title: Front Endocrinol (Lausanne)
Subject Terms: Endocrinology
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8458656/; http://dx.doi.org/10.3389/fendo.2021.686317
Authors: Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco
Superior Title: Am J Hum Genet
Subject Terms: Article
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820739/; http://www.ncbi.nlm.nih.gov/pubmed/33308444; http://dx.doi.org/10.1016/j.ajhg.2020.11.015
Authors: Lauffer, Peterj_jpem-2019-0501_aff_001_w2aab3b7c52b1b6b1aab1b4b4Aa, Mooij, Christiaan F.j_jpem-2019-0501_aff_001_w2aab3b7c52b1b6b1aab1b4b4Aa, Zwaveling-Soonawala, Nitashj_jpem-2019-0501_aff_001_w2aab3b7c52b1b6b1aab1b4b4Aa, van Trotsenburg, A.S. Paulj_jpem-2019-0501_aff_001_w2aab3b7c52b1b6b1aab1b4b4Aa
Superior Title: Journal of Pediatric Endocrinology and Metabolism. 33(3):425-426