Richard J L F Lemmers (Richard J F L Lemmers)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 15

Top Topics

Rheumatoid Arthritis Patients

Muscular Dystrophy

Top Venues

Clinical genetics

Human molecular genetics

Journal of medical genetics

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics (2024)
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Peter L Jones, Dennis W W Shaw, Silvia S Blemker, Lara Riem, Olivia DuCharme, Richard J L F Lemmers, Silvère M van der Maarel, Leo H Wang, Rabi Tawil, Jeffrey M Statland, Stephen J Tapscott
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression. Human molecular genetics (2024)
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Peter L Jones, Dennis W W Shaw, Silvia S Blemker, Lara Riem, Olivia DuCharme, Richard J L F Lemmers, Silvère M van der Maarel, Leo H Wang, Rabi Tawil, Jeffrey M Statland, Stephen J Tapscott
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression. Human molecular genetics 33 (8) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Peter L Jones, Dennis W W Shaw, Silvia S Blemker, Lara Riem, Olivia DuCharme, Richard J L F Lemmers, Silvère M van der Maarel, Leo H Wang, Rabi Tawil, Jeffrey M Statland, Stephen J Tapscott
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression. Human molecular genetics 33 (8) (2024)
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Peter L Jones, Dennis W W Shaw, Silvia S Blemker, Lara Riem, Olivia DuCharme, Richard J L F Lemmers, Silvère M van der Maarel, Leo H Wang, Rabi Tawil, Jeffrey M Statland, Stephen J Tapscott
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression. Human molecular genetics (2024)
Richard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, Jan L de Bleecker, Ludo van der Pol, Diane M Dunn, Corrie E Erasmus, Marc D'Hooghe, Kristof Verhoeven, Judit Balog, Anne Bigot, Baziel van Engelen, Jeffrey Statland, Enrico Bugiardini, Nienke van der Stoep, Teresinha Evangelista, Chiara Marini-Bettolo, Peter van den Bergh, Rabi Tawil, Nicol C Voermans, John Vissing, Robert B Weiss, Silvère M van der Maarel
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. Brain : a journal of neurology (2023)
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Rodrigo Siqueira Soares Frezatti, Sharika V Raga, Kireshnee Naidu, Özlem Yayıcı Köken, Ipek Polat, Musambo M Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina I Trainor, Elizabeth C Steyn, Amokelani C Mahungu, Patrick J van der Vliet, Ahmet Cevdet Ceylan, A Semra Hiz, Büşranur Çavdarlı, C Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik B Tallapaka, Periyasamy Govindaraj, Silvère M van der Maarel, Gayathri Narayanappa, Bevinahalli N Nandeesh, Somwe Wa Somwe, David R Bearden, Michelle P Kvalsund, Gita M Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sarkozy, Enrico Bugiardini, Franclo Henning, Jo M Wilmshurst, Jeannine M Heckmann, Robert McFarland, Robert W Taylor, Izelle Smuts, Francois Hendrikus van der Westhuizen, Claudia Ferreira Da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin B Dalal, M V Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Yamuna Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horvath, Patrick F Chinnery, Robert D S Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcova, Mary M Reilly, Michael G Hanna
Neuromuscular disease genetics in underrepresented populations: increasing data diversity. Brain : a journal of neurology (2023)
Richard J L F Lemmers, Patrick J van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne Goselink, Stephen J Tapscott, Nicol C Voermans, Rabi Tawil, George W A M Padberg, Baziel Gm van Engelen, Silvère M van der Maarel
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene. Journal of medical genetics (2021)
Remko Goossens, Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Patrick J van der Vliet, Iris M Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Wytske M van Weerden, Stephen J Tapscott, Niels Geijsen, Manuel A F V Gonçalves, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing. Journal of medical genetics 56 (12) (2019)
Richard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, Steven A Moore, David San Leon Granado, Katherine Johnson, Ana Topf, Volker Straub, Teresinha Evangelista, Tahseen Mozaffar, Virginia E Kimonis, Natalie D Shaw, Rita Selvatici, Alessandra Ferlini, Nicol Voermans, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Meindert Lamers, Silvère M van der Maarel
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. Journal of medical genetics 56 (10) (2019)
Rianne J M Goselink, Karlien Mul, Caroline R van Kernebeek, Richard J L F Lemmers, Silvère M van der Maarel, Tim H A Schreuder, Corrie E Erasmus, George W Padberg, Jeffrey M Statland, Nicol C Voermans, Baziel G M van Engelen
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy. Neurology 92 (4) (2018)