ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

por Tørring, Pernille M., Kjeldsen, Anette D., Ousager, Lilian Bomme, Brusgaard, Klaus
Publicado 2017

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

por Chayed, Zahraa, Kristensen, Lone Krøldrup, Ousager, Lilian Bomme, Rønlund, Karina, Bygum, Anette
Publicado 2021

Pigmentary mosaicism: a review of original literature and recommendations for future handling

por Kromann, Anna Boye, Ousager, Lilian Bomme, Ali, Inas Kamal Mohammad, Aydemir, Nurcan, Bygum, Anette
Publicado 2018

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome

por Helle, Ole Magnus Bjorgaas, Pedersen, Torkild Høieggen, Ousager, Lilian Bomme, Thomassen, Mads, Hertz, Jens Michael
Publicado 2020

Cancer risk and mortality in patients with solitary Peutz–Jeghers polyps

por Jelsig, Anne Marie, Wullum, Laus, Ousager, Lilian Bomme, Burish, Johan, Kühlmann, Tine Plato, Karstensen, John Gásdal
Publicado 2023

Cancer risk and mortality in patients with solitary juvenile polyps—A nationwide cohort study with matched controls

por Jelsig, Anne Marie, Wullum, Laus, Kuhlmann, Tine Plato, Ousager, Lilian Bomme, Burisch, Johan, Karstensen, John Gásdal
Publicado 2023

Long Non-Coding RNA Expression Profiles in Hereditary Haemorrhagic Telangiectasia

por Tørring, Pernille M., Larsen, Martin Jakob, Kjeldsen, Anette D., Ousager, Lilian Bomme, Tan, Qihua, Brusgaard, Klaus
Publicado 2014

Hamartomatous polyposis syndromes: A review

por Jelsig, Anne Marie, Qvist, Niels, Brusgaard, Klaus, Nielsen, Claus Buhl, Hansen, Tine Plato, Ousager, Lilian Bomme
Publicado 2014

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

por Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
Publicado 2019

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023