Responsible implementation of expanded carrier screening von Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut

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Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer von van Dijke, Ivy, Lakeman, Phillis, Sabiri, Naoual, Rusticus, Hanna, Ottenheim, Cecile P. E., Mathijssen, Inge B., Cornel, Martina C., Henneman, Lidewij

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Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders von van Dijke, Ivy, van El, Carla G, Lakeman, Phillis, Goddijn, Mariëtte, Rigter, Tessel, Cornel, Martina C, Henneman, Lidewij

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How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples von van Dijke, Ivy, Lakeman, Phillis, Mathijssen, Inge B., Goddijn, Mariette, Cornel, Martina C., Henneman, Lidewij

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Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening von Nijmeijer, Stephanie C. M., Conijn, Thirsa, Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A., Haverman, Lotte

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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice von Sallevelt, Suzanne C.E.H., Stegmann, Alexander P.A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E.M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D.C.

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Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population von Conijn, Thirsa, van Dijke, Ivy, Haverman, Lotte, Lakeman, Phillis, Wijburg, Frits A, Henneman, Lidewij

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Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population von Mathijssen, Inge B, Holtkamp, Kim C A, Ottenheim, Cecile P E, van Eeten-Nijman, Janneke M C, Lakeman, Phillis, Meijers-Heijboer, Hanne, van Maarle, Merel C, Henneman, Lidewij

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Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review von Tjon, Jill K., Lakeman, Phillis, Leeuwen, Elisabeth, Waisfisz, Quinten, Weiss, Marjan M., Tan‐Sindhunata, Gita M. B., Nikkels, Peter G. J., Voorn, Patrick J. P., Salomons, Gajja S., Burchell, George L., Linskens, Ingeborg H., Knoop, Bloeme J., Vries, Johanna I. P.

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Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant von Overwater, Eline, Efrat, Rifka, Barge‐Schaapveld, Daniela Q. C. M., Lakeman, Phillis, Weiss, Marjan M., Maugeri, Alessandra, van Tintelen, J. Peter, Houweling, Arjan C.

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Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study von Klein, David, van Dijke, Ivy, van Langen, Irene M., Dondorp, Wybo, Lakeman, Phillis, Henneman, Lidewij, Cornel, Martina C.

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Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism von Nijmeijer, Stephanie C.M., Conijn, Thirsa, Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A., Haverman, Lotte

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KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants von 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

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Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes von Conijn, Thirsa, Nijmeijer, Stephanie C. M., Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A., Haverman, Lotte

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Views of patients and parents of children with genetic disorders on population‐based expanded carrier screening von Woudstra, Anke J., Heuvel, Lieke M., Vliet‐Lachotzki, Elsbeth H., Dondorp, Wybo, Lakeman, Phillis, Haverman, Lotte, Langen, Irene M., Henneman, Lidewij

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Developmental epileptic encephalopathy in DLG4‐related synaptopathy von Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo‐Serrano, Angel, Ananth, Amitha L., Brea‐Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé‐Pichon, Anne‐Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández‐Jaén, Alberto, Fernández‐Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil‐Nagel, Antonio, Gómez‐Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, 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, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah‐Politi, Anya, Rheims, Sylvain, Rodríguez‐Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido

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Phenotypes and genotypes in individuals with SMC1A variants von Huisman, Sylvia, Mulder, Paul A., Redeker, Egbert, Bader, Ingrid, Bisgaard, Anne‐Marie, Brooks, Alice, Cereda, Anna, Cinca, Constanza, Clark, Dinah, Cormier‐Daire, Valerie, Deardorff, Matthew A., Diderich, Karin, Elting, Mariet, van Essen, Anthonie, FitzPatrick, David, Gervasini, Cristina, Gillessen‐Kaesbach, Gabriele, Girisha, Katta M., Hilhorst‐Hofstee, Yvonne, Hopman, Saskia, Horn, Denise, Isrie, Mala, Jansen, Sandra, Jespersgaard, Cathrine, Kaiser, Frank J., Kaur, Maninder, Kleefstra, Tjitske, Krantz, Ian D., Lakeman, Phillis, Landlust, Annemiek, Lessel, Davor, Michot, Caroline, Moss, Jo, Noon, Sarah E., Oliver, Chris, Parenti, Ilaria, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Russo, Silvia, Selicorni, Angelo, Tümer, Zeynep, Vorstenbosch, Rieneke, Wenger, Tara L., van Balkom, Ingrid, Piening, Sigrid, Wierzba, Jolanta, Hennekam, Raoul C.

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Primary care professionals' views on population-based expanded carrier screening: an online focus group study von van den Heuvel, Lieke M, Woudstra, Anke J, van der Hout, Sanne, Jans, Suze, Wiersma, Tjerk, Dondorp, Wybo, Birnie, Erwin, Lakeman, Phillis, Henneman, Lidewij, Plantinga, Mirjam, van Langen, Irene M

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Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives von Holtkamp, Kim C A, Mathijssen, Inge B, Lakeman, Phillis, van Maarle, Merel C, Dondorp, Wybo J, Henneman, Lidewij, Cornel, Martina C

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Bloom syndrome does not always present with sun-sensitive facial erythema von Bouman, Arjan, van Koningsbruggen, Silvana, Karakullukcu, M. Bariş, Schreuder, Willem Hans, Lakeman, Phillis

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