Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

por Reynolds, Ben C., Lemmers, Richard J. L. F., Tolmie, John, Howatson, Allan G., Hughes, David A.
Publicado 2010

DUX4 expression in cancer induces a metastable early embryonic totipotent program

por Smith, Andrew A., Nip, Yee, Bennett, Sean R., Hamm, Danielle C., Lemmers, Richard J.L.F., van der Vliet, Patrick J., Setty, Manu, van der Maarel, Silvère M., Tapscott, Stephen J.
Publicado 2023

De novo whole-genome assembly of a wild type yeast isolate using nanopore sequencing

por Liem, Michael, Jansen, Hans J., Dirks, Ron P., Henkel, Christiaan V., van Heusden, G. Paul H., Lemmers, Richard J.L.F., Omer, Trifa, Shao, Shuai, Punt, Peter J., Spaink, Herman P.
Publicado 2018

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

por Snider, Lauren, Geng, Linda N., Lemmers, Richard J. L. F., Kyba, Michael, Ware, Carol B., Nelson, Angelique M., Tawil, Rabi, Filippova, Galina N., van der Maarel, Silvère M., Tapscott, Stephen J., Miller, Daniel G.
Publicado 2010

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

por Mason, Amanda G., Slieker, Roderick C., Balog, Judit, Lemmers, Richard J. L. F., Wong, Chao-Jen, Yao, Zizhen, Lim, Jong-Won, Filippova, Galina N., Ne, Enrico, Tawil, Rabi, Heijmans, Bas T., Tapscott, Stephen J., van der Maarel, Silvère M.
Publicado 2017

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

por Balog, Judit, Thijssen, Peter E., Shadle, Sean, Straasheijm, Kirsten R., van der Vliet, Patrick J., Krom, Yvonne D., van den Boogaard, Marlinde L., de Jong, Annika, F Lemmers, Richard J. L., Tawil, Rabi, Tapscott, Stephen J., van der Maarel, Silvère M.
Publicado 2015

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

por Goselink, Rianne J. M., Schreuder, Tim H. A., Mul, Karlien, Voermans, Nicol C., Pelsma, Maaike, de Groot, Imelda J. M., van Alfen, Nens, Franck, Bas, Theelen, Thomas, Lemmers, Richard J., Mah, Jean K., van der Maarel, Silvère M., van Engelen, Baziel G., Erasmus, Corrie E.
Publicado 2016

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

por Goselink, Rianne J.M., Schreuder, Tim H.A., van Alfen, Nens, de Groot, Imelda J.M., Jansen, Merel, Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Stoep, Nienke, Theelen, Thomas, Voermans, Nicol C., van der Maarel, Silvère M., van Engelen, Baziel G.M., Erasmus, Corrie E.
Publicado 2018

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

por Efthymiou, Stephanie, Lemmers, Richard J. L. F., Vishnu, Venugopalan Y., Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J., Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M., Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M., Hanna, Michael G., Bugiardini, Enrico
Publicado 2023

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

por Bruels, Christine C., Littel, Hannah R., Daugherty, Audrey L., Stafki, Seth, Estrella, Elicia A., McGaughy, Emily S., Truong, Don, Badalamenti, Jonathan P., Pais, Lynn, Ganesh, Vijay S., O'Donnell‐Luria, Anne, Stalker, Heather J., Wang, Yang, Collins, Christin, Behlmann, Andrea, Lemmers, Richard J. L. F., van der Maarel, Silvère M., Laine, Regina, Ghosh, Partha S., Darras, Basil T., Zingariello, Carla D., Pacak, Christina A., Kunkel, Louis M., Kang, Peter B.
Publicado 2022

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

por Beijer, Danique, Kim, Hong Joo, Guo, Lin, O’Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M., Drake, Lauren E., Ford, Alice F., Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Bonner, Devon, Sampson, Jacinda B., Wheeler, Matthew T., Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J. Paul, Baets, Jonathan
Publicado 2021

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

por Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Publicado 2015

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

por Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Publicado 2016

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

por Lemmers, Richard J.L.F., Tawil, Rabi, Petek, Lisa M., Balog, Judit, Block, Gregory J., Santen, Gijs W.E., Amell, Amanda M., van der Vliet, Patrick J., Almomani, Rowida, Straasheijm, Kirsten R., Krom, Yvonne D., Klooster, Rinse, Sun, Yu, den Dunnen, Johan T., Helmer, Quinta, Donlin-Smith, Colleen M., Padberg, George W., van Engelen, Baziel G.M., de Greef, Jessica C., Aartsma-Rus, Annemieke M., Frants, Rune R., de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N., Bakker, Bert, Bamshad, Michael J., Tapscott, Stephen J., Miller, Daniel G., van der Maarel, Silvère M.
Publicado 2012

Neuromuscular disease genetics in under-represented populations: increasing data diversity

por Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G
Publicado 2023