Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
D'Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J, Alders, Mariëlle, Dingemans, Alexander J M, Mateiu, Ligia, de Vries, Bert B A, Vanden Berghe, Wim, Kooy, R Frank
Published in European journal of human genetics : EJHG (01.06.2024)
Published in European journal of human genetics : EJHG (01.06.2024)
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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna
Published in European journal of human genetics : EJHG (15.02.2024)
Published in European journal of human genetics : EJHG (15.02.2024)
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Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
Dingemans, Alexander J. M., Jansen, Sandra, van Reeuwijk, Jeroen, de Leeuw, Nicole, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke, van Bon, Bregje W., Marcelis, Carlo, Ockeloen, Charlotte W., Willemsen, Marjolein, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Nature medicine (01.07.2024)
Published in Nature medicine (01.07.2024)
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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Khadri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna
Published in European journal of human genetics : EJHG (01.03.2024)
Published in European journal of human genetics : EJHG (01.03.2024)
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
Dingemans, Alexander J M, Stremmelaar, Diante E, van der Donk, Roos, Vissers, Lisenka E L M, Koolen, David A, Rump, Patrick, Hehir-Kwa, Jayne Y, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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The Impact of Manuscript Learning vs. Video Learning on a Surgeon's Confidence in Performing a Difficult Procedure
Reck-Burneo, Carlos A, Dingemans, Alexander J M, Lane, Victoria A, Cooper, Jennifer, Levitt, Marc A, Wood, Richard J
Published in Frontiers in surgery (12.11.2018)
Published in Frontiers in surgery (12.11.2018)
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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Published in American journal of human genetics (05.03.2020)
Published in American journal of human genetics (05.03.2020)
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KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., Newbury-Ecob, Ruth
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Dingemans, Alexander J. M., Hinne, Max, Truijen, Kim M. G., Goltstein, Lia, van Reeuwijk, Jeroen, de Leeuw, Nicole, Schuurs-Hoeijmakers, Janneke, Pfundt, Rolph, Diets, Illja J., den Hoed, Joery, de Boer, Elke, Coenen-van der Spek, Jet, Jansen, Sandra, van Bon, Bregje W., Jonis, Noraly, Ockeloen, Charlotte W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Campeau, Philippe M., Palmer, Elizabeth E., Van Esch, Hilde, Lyon, Gholson J., Alkuraya, Fowzan S., Rauch, Anita, Marom, Ronit, Baralle, Diana, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, van Gerven, Marcel A. J., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Nature genetics (01.09.2023)
Published in Nature genetics (01.09.2023)
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Diets, Illja J., van der Donk, Roos, Baltrunaite, Kristina, Waanders, Esmé, Reijnders, Margot R.F., Dingemans, Alexander J.M., Pfundt, Rolph, Vulto-van Silfhout, Anneke T., Wiel, Laurens, Gilissen, Christian, Thevenon, Julien, Perrin, Laurence, Afenjar, Alexandra, Nava, Caroline, Keren, Boris, Bartz, Sarah, Peri, Bethany, Beunders, Gea, Verbeek, Nienke, van Gassen, Koen, Thiffault, Isabelle, Cadieux-Dion, Maxime, Huerta-Saenz, Lina, Wagner, Matias, Konstantopoulou, Vassiliki, Vodopiutz, Julia, Griese, Matthias, Boel, Annekatrien, Callewaert, Bert, Brunner, Han G., Kleefstra, Tjitske, Hoogerbrugge, Nicoline, de Vries, Bert B.A., Hwa, Vivian, Dauber, Andrew, Hehir-Kwa, Jayne Y., Kuiper, Roland P., Jongmans, Marjolijn C.J.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Dingemans, Alexander J M, Truijen, Kim M G, Kim, Jung-Hyun, Alaçam, Zahide, Faivre, Laurence, Collins, Kathleen M, Gerkes, Erica H, van Haelst, Mieke, van de Laar, Ingrid M B H, Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitańska-Pliszka, Edyta, Plomp, Astrid S, Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E, Verberne, Eline A, Vulto-van Silfhout, Anneke T, Wilsterman, Marlon E F, Ahn, Eun-Young Erin, de Vries, Bert B A, Vissers, Lisenka E L M
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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Journal Article
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., Kleefstra, Tjitske
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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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
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
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
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A structured bowel management program for patients with severe functional constipation can help decrease emergency department visits, hospital admissions, and healthcare costs
Reck-Burneo, Carlos A., Vilanova-Sanchez, Alejandra, Gasior, Alessandra C., Dingemans, Alexander J.M., Lane, Victoria A., Dyckes, Robert, Nash, Onnalisa, Weaver, Laura, Maloof, Tassiana, Wood, Richard J., Zobell, Sarah, Rollins, Michael D., Levitt, Marc A.
Published in Journal of pediatric surgery (01.09.2018)
Published in Journal of pediatric surgery (01.09.2018)
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Journal Article
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin
Published in Genetics in medicine (01.10.2023)
Published in Genetics in medicine (01.10.2023)
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Journal Article
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
Coenen-van der Spek, Jet, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael A., Tedder, Matthew L., Louie, Raymond J., Fletcher, Robin S., Moore, Hannah W., Childers, Anna, Farrelly, Ellyn R., Champaigne, Neena L., Lyons, Michael J., Everman, David B., Rogers, R. Curtis, Skinner, Steven A., Renck, Alicia, Matalon, Dena R., Dills, Shelley K., Monteleone, Berrin, Demirdas, Serwet, Dingemans, Alexander J.M., Donker Kaat, Laura, Kolk, Sharon M., Pfundt, Rolph, Rump, Patrick, Sadikovic, Bekim, Kleefstra, Tjitske, Butler, Kameryn M.
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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