Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome by Maas, Saskia M, Shaw, Adam C, Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R, Cobben, JanMaarten, de Man, Stella A, Den Hollander, Nicolette S, Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C, Hoogeboom, A. Jeannette M, Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B, Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B, Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M, Verheij, Joke B.G.M, Mannens, Marcel M, Hennekam, Raoul C

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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway by Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

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Clinical utility gene card for: dilated cardiomyopathy (CMD) by Posafalvi, Anna, Herkert, Johanna C, Sinke, Richard J, van den Berg, Maarten P, Mogensen, Jens, Jongbloed, Jan D H, van Tintelen, J Peter

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Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics by Hanemaaijer, Nicolien M, Sikkema-Raddatz, Birgit, van der Vries, Gerben, Dijkhuizen, Trijnie, Hordijk, Roel, van Essen, Anthonie J, Veenstra-Knol, Hermine E, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, Gerkes, Erica H, Leegte, Lamberta K, Kok, Klaas, Sinke, Richard J, van Ravenswaaij-Arts, Conny M A

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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature by van der Laan, Liselot, Silva, Ananília, 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, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

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Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines by Herkert, Johanna C, Niessen, Renée C, Olderode-Berends, Maria J.W, Veenstra-Knol, Hermine E, Vos, Yvonne J, van der Klift, Heleen M, Scheenstra, Rene, Tops, Carli M.J, Karrenbeld, Arend, Peters, Frans T.M, Hofstra, Robert M.W, Kleibeuker, Jan H, Sijmons, Rolf H

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Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum by Stulp, Rein P, Herkert, Johanna C, Karrenbeld, Arend, Mol, Bart, Vos, Yvonne J, Sijmons, Rolf H

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Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients by de Bot, Susanne T, Burggraaff, Rogier C, Herkert, Johanna C, Schelhaas, Helenius J, Post, Bart, Diekstra, Adinda, van Vliet, Reinout O, van der Knaap, Marjo S, Kamsteeg, Erik-Jan, Scheffer, Hans, van de Warrenburg, Bart P, Verschuuren-Bemelmans, Corien C, Kremer, Hubertus P H

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Abstract P391: Cellular Camp Nanoarchtecture-signaling Changes Cause Hypertension With Brachydactyly by Kayser, Charlotte, Leeuwen, Lisette, Herkert, Johanna C, Vos, Yvonne J, Lohse, Martin, Luft, Friedrich C, Bock, Andreas

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Screening for germline DND1 mutations in testicular cancer patients by Sijmons, Rolf H., Vos, Yvonne J., Herkert, Johanna C., Bos, Krista K., Holzik, Martijn F. Lutke, Hoekstra-Weebers, Josette E. H. M., Hofstra, Robert M. W., Hoekstra, Harald J.

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Abstract 18895: A Novel Gene Involved in Severe Neonatal Cardiomyopathy by Herkert, Johanna C, Almomani, Rowida, Verhagen, Judith M, Wessels, Marja W, Bertoli-Avella, Aida M, van Slegtenhorst, Marjon A, Verdijk, Rob M, du Plessis, Frederik A, Frohn-Mulder, Ingrid M, Brosens, Erwin, Hofstra, Robert M, van Spaendonck-Zwarts, Karin Y, Asimaki, Angeliki, van der Zwaag, Paul A, van der Smagt, Jasper J, Timmer, Bert, van Stuijvenberg, Margriet, Sinke, Richard J, van Tintelen, J Peter, van de Laar, Ingrid M, Jongbloed, Jan D

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Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility by Irene V van Blokland, Pauline Lanting, Anil P S Ori, Judith M Vonk, Robert C A Warmerdam, Johanna C Herkert, Floranne Boulogne, Annique Claringbould, Esteban A Lopera-Maya, Meike Bartels, Jouke-Jan Hottenga, Andrea Ganna, Juha Karjalainen, Lifelines COVID-19 cohort study, COVID-19 Host Genetics Initiative, Caroline Hayward, Chloe Fawns-Ritchie, Archie Campbell, David Porteous, Elizabeth T Cirulli, Kelly M Schiabor Barrett, Stephen Riffle, Alexandre Bolze, Simon White, Francisco Tanudjaja, Xueqing Wang, Jimmy M Ramirez, Yan Wei Lim, James T Lu, Nicole L Washington, Eco J C de Geus, Patrick Deelen, H Marike Boezen, Lude H Franke

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Abstract 14519: Unique Cardiac Phenotype in ALPK3-Related Disease: Progression From Dilated Cardiomyopathy to Hypertrophic Cardiomyopathy by Herkert, Johanna C, Verhagen, Judith M, Phelan, Dean G, James, Paul A, Brown, Natasha J, Stutterd, Chloe, Macciocca, Ivan, Aggarwal, Anu, Timmer, Bert, Bulthuis, Marion L, van Bever, Yolande, Roberts, Amy E, Seidman, Christine E, Lakdawala, Neal K, Burke, Michael A, Pierpont, Mary Ella, van Langen, Irene M, Jongbloed, Jan D, Lockhart, Paul J, Amor, David J, van de Laar, Ingrid M

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Abstract 12239: Biallelic Variants in ASNA1 Cause Rapidly Progressive Pediatric Cardiomyopathy by Verhagen, Judith M, van den Born, Myrthe, van der Linde, Herma C, Nikkels, Peter G, Verdijk, Rob M, van Unen, Leontine M, Baas, Annette F, ter Heide, Henriette, van Osch-Gevers, Lennie, Hoogeveen-Westerveld, Marianne, Herkert, Johanna C, van Slegtenhorst, Marjon A, Wessels, Marja W, Verheijen, Frans W, Hassel, David M, Hofstra, Robert M, Hegde, Ramanujan S, van Ham, Tjakko J, van Hasselt, Peter M, van de Laar, Ingrid M

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Abstract 16003: Rapid Whole Genome Sequencing for Critically Ill Children With Cardiomyopathy by van der Zwaag, Paul A, Herkert, Johanna C, du Marchie Sarvaas, Gideon J, Bartelds, Beatrijs, van Diemen, Cleo C, de Koning, Tom J, Jongbloed, Jan D, Sikkema-Raddatz, Birgit, Franke, Lude, Sinke, Richard J, van Langen, Irene M, Wijmenga, Cisca, Kerstjens-Frederikse, Wilhelmina S

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Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy by Leeuwen, Lisette, Lubout, Charlotte M A, Nijenhuis, Hessel P, Meiners, Linda C, Vos, Yvonne J, Herkert, Johanna C

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Abstract 010: Phosphodiesterase 3a Catalytic-domain Mutants Cause Hypertension With Brachydactyly by Kayser, Charlotte, Bock, Andreas, Leeuwen, Lisette, Herkert, Johanna, Vos, Yvonne, Kidd, Alexa, Aydin, Atakan, Daumke, Oliver, Lohse, Martin, Luft, Friedrich C

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