Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review von Chayed, Zahraa, Kristensen, Lone Kroldrup, Ousager, Lilian Bomme, Ronlund, Karina, Bygum, Anette

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Pigmentary mosaicism: a review of original literature and recommendations for future handling von Kromann, Anna Boye, Ousager, Lilian Bomme, Ali, Inas Kamal Mohammad, Aydemir, Nurcan, Bygum, Anette

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Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5) von Pagel, Julia, Beutel, Karin, Lehmberg, Kai, Koch, Florian, Maul-Pavicic, Andrea, Rohlfs, Anna-Katharina, Al-Jefri, Abdullah, Beier, Rita, Bomme Ousager, Lilian, Ehlert, Karoline, Gross-Wieltsch, Ute, Jorch, Norbert, Kremens, Bernhard, Pekrun, Arnulf, Sparber-Sauer, Monika, Mejstrikova, Ester, Wawer, Angela, Ehl, Stephan, zur Stadt, Udo, Janka, Gritta

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Research participants in NGS studies want to know about incidental findings von Jelsig, Anne Marie, Qvist, Niels, Brusgaard, Klaus, Ousager, Lilian Bomme

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Lessons learned from 40 novel PIGA patients and a review of the literature von Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R., Moura de Souza, Carolina Fischinger, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne‐Marie, Hansen, Lars, Jezela‐Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R., Korff, Christian M., Kragh Hansen, Johanne, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L., Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie‐Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H., Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjærg, Lisbeth, Slegtenhorst, Marjon, Wolfe, Lynne A., Lal, Dennis, Gardella, Elena, Bomme Ousager, Lilian, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S.

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On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO von Björkhem, Ingemar, Diczfalusy, Ulf, Lövgren-Sandblom, Anita, Starck, Lena, Jonsson, Monica, Tallman, Keri, Schirmer, Henrik, Ousager, Lilian Bomme, Crick, Peter J., Wang, Yuqin, Griffiths, William J., Guengerich, F. Peter

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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy von Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Bomme Ousager, Lilian, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Poza Aldea, Juan José, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Brennan Spitale, Allison, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn

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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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Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MO... von Krøigård, Anne Bruun, MD, PhD, Frost, Morten, MD, PhD, Larsen, Martin Jakob, MD, PhD, Ousager, Lilian Bomme, MD, PhD, Frederiksen, Anja Lisbeth, MD, PhD

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Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant von Øzdemir, Cagla Margit, Nielsen, Mette Mølby, Liimatta, Jani, Voegel, Clarissa D, Elzenaty, Rawda Naamneh, Wasehuus, Victor S, Lind-Holst, Marie, Ornstrup, Marie Juul, Gram, Stine Bjørn, Ousager, Lilian Bomme, Flück, Christa E, Gravholt, Claus H

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Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome von Helle, Ole Magnus Bjorgaas, Pedersen, Torkild Høieggen, Ousager, Lilian Bomme, Thomassen, Mads, Hertz, Jens Michael

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Risk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls von Jelsig, Anne Marie, Wullum, Laus, Kuhlmann, Tine Plato, Ousager, Lilian Bomme, Burisch, Johan, Karstensen, John Gásdal

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Identification of a founder variant AAGAB c. 370C >T, p. Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark von Gram, Stine Bjørn, Jørgensen, Anne Sofie Fredberg, Bygum, Anette, Brusgaard, Klaus, Ousager, Lilian Bomme

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Juvenile Polyps in Denmark From 1995 to 2014 von Jelsig, Anne Marie, Ousager, Lilian Bomme, Brusgaard, Klaus, Qvist, Niels

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Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark von Gram, Stine Bjørn, Jørgensen, Anne Sofie Fredberg, Bygum, Anette, Brusgaard, Klaus, Ousager, Lilian Bomme

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Hamartomatous polyposis syndromes: a review von Jelsig, Anne Marie, Qvist, Niels, Brusgaard, Klaus, Nielsen, Claus Buhl, Hansen, Tine Plato, Ousager, Lilian Bomme

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De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities von Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Ali, Cohen, Julie S., Lemke, Johannes, Sørensen, Kristina P., Helbig, Katherine L., Lessel, Davor, Abou Jamra, Rami

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Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk von Gram, Stine Bjørn, Brusgaard, Klaus, Bygum, Anette, Christensen, Alex Hørby, Ousager, Lilian Bomme

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von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance von Louise M Binderup, Marie, Smerdel, Maja, Borgwadt, Line, Beck Nielsen, Signe Sparre, Madsen, Mia Gebauer, Møller, Hans Ulrik, Kiilgaard, Jens Folke, Friis-Hansen, Lennart, Harbud, Vibeke, Cortnum, Søren, Owen, Hanne, Gimsing, Steen, Friis Juhl, Henning Anker, Munthe, Sune, Geilswijk, Marianne, Rasmussen, Åse Krogh, Møldrup, Ulla, Graumann, Ole, Donskov, Frede, Grønbæk, Henning, Stausbøl-Grøn, Brian, Schaffalitzky de Muckadell, Ove, Knigge, Ulrich, Dam, Gitte, Wadt, Karin AW, Bøgeskov, Lars, Bagi, Per, Lund, Lars, Stochholm, Kirstine, Ousager, Lilian Bomme, Sunde, Lone

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Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study von Jelsig, Anne Marie, Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise‐Lotte, Lautrup, Charlotte Kvist, Frederiksen, Jane Hübertz, Sunde, Lone, Ousager, Lilian Bomme, Ljungmann, Ken, Bertelsen, Birgitte, Karstensen, John Gásdal

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