High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia von Kofoed, Mikkel Seremet, Tørring, Pernille M., Christensen, Alex Alban, Lange, Bibi, Kjeldsen, Anette Drøhse, Nielsen, Troels Halfeld

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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction von Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.

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Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review von Brix, Anna Trier Heiberg, Tørring, Pernille Mathiesen, Bygum, Anette

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Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome von 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

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Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia von Tørring, Pernille M, Larsen, Martin Jakob, Kjeldsen, Anette D, Ousager, Lilian Bomme, Tan, Qihua, Brusgaard, Klaus

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20-year follow-up study of Danish HHT patients-survival and causes of death von Kjeldsen, Anette, Aagaard, Katrine Saldern, Tørring, Pernille Mathiesen, Möller, Sören, Green, Anders

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant von Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde

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Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome von Moldenæs, Marika F., Rendtorff, Nanna D., Hindbæk, Lone S., Tørring, Pernille M., Nilssen, Øivind, Tranebjærg, Lisbeth

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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark von Lildballe, Dorte L, Frederiksen, Anja Lisbeth, Schönewolf-Greulich, Bitten, Brasch-Andersen, Charlotte, Lautrup, Charlotte Kvist, Karstensen, Helena Gásdal, Pedersen, Inge Søkilde, Sunde, Lone, Risom, Lotte, Rasmussen, Maria, Bertelsen, Mette, Andersen, Mette Klarskov, Rendtorff, Nanna Dahl, Gregersen, Pernille Axél, Tørring, Pernille M, Hammer-Hansen, Sophia, Boonen, Susanne E, Lindquist, Suzanne Granhøj, Hammer, Trine Bjørg, Diness, Birgitte R

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A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly von Ree, Rasmus, Geithus, Anni Sofie, Tørring, Pernille Mathiesen, Sørensen, Kristina Pilekær, Damkjær, Mads, Lynch, Sally Ann, Arnesen, Thomas

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Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia von Aagaard, Katrine S., Brusgaard, Klaus, Miceikaite, Ieva, Larsen, Martin J., Kjeldsen, Anette D., Lester, Emilie B., Ousager, Lilian B., Tørring, Pernille M.

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Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study von Jelsig, Anne Marie, van Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise-Lotte, Lautrup, Charlotte Kvist, Ljungmann, Ken, Christensen, Louise Torp, Rønlund, Karina, Tørring, Pernille Mathiesen, Bertelsen, Birgitte, Sunde, Lone, Karstensen, John Gásdal

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Functional characterization of MLH1 missense variants identified in lynch syndrome patients von Andersen, Sofie Dabros, Liberti, Sascha Emilie, Lützen, Anne, Drost, Mark, Bernstein, Inge, Nilbert, Mef, Dominguez, Mev, Nyström, Minna, Hansen, Thomas Van Overeem, Christoffersen, Janus Wiese, Jäger, Anne Charlotte, de Wind, Niels, Nielsen, Finn Cilius, Tørring, Pernille M., Rasmussen, Lene Juel

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ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia von Tørring, Pernille M., Kjeldsen, Anette D., Ousager, Lilian Bomme, Brusgaard, Klaus

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Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study von Jelsig, Anne Marie, Qvist, Niels, Bertelsen, Birgitte, Christensen, Lise-Lotte, Grossjohan, Hanne, Lautrup, Charlotte Kvist, Sunde, Lone, Tørring, Pernille Mathiesen, Ljungman, Ken, Christensen, Louise Torp, Karstensen, John Gásdal

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Is MED13L-related intellectual disability a recognizable syndrome? von Tørring, Pernille Mathiesen, Larsen, Martin Jakob, Brasch-Andersen, Charlotte, Krogh, Lotte Nylandsted, Kibæk, Maria, Laulund, Lone, Illum, Niels, Dunkhase-Heinl, Ulrike, Wiesener, Antje, Popp, Bernt, Marangi, Giuseppe, Hjortshøj, Tina Duelund, Ek, Jakob, Vogel, Ida, Becher, Naja, Roos, Laura, Zollino, Marcella, Fagerberg, Christina Ringmann

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Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia von Tørring, Pernille M., Larsen, Martin Jakob, Kjeldsen, Anette D., Ousager, Lilian Bomme, Tan, Qihua, Brusgaard, Klaus

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Comorbidity among HHT patients and their controls in a 20 years follow-up period von Aagaard, Katrine Saldern, Kjeldsen, Anette Drøhse, Tørring, Pernille Mathiesen, Green, Anders

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Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia von Tørring, Pernille Mathiesen, Lauridsen, Mathilde Faurholdt, i Dali, Christine, Andersen, Poul Erik, Ousager, Lillian Bomme, Brusgaard, Klaus, Kjeldsen, Anette

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Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia von Tørring, Pernille M, Kjeldsen, Anette D, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Brusgaard, Klaus

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