1. Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing. (21st April 2015) Authors: Liu, Hao; Sawyer, Sarah L; Gos, Monika; Grynspan, David; Issa, Kheirie; Ramphal, Raveena; Rotaru, Carmen; Consortium, FORGE Canada; Majewski, Jacek; Boycott, Kym M; Graham, Gail; Bromwich, Matthew Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity. Issue 9 (17th June 2014) Authors: Gos, Monika; Fahiminiya, Somayyeh; Poznański, Jarosław; Klapecki, Jakub; Obersztyn, Ewa; Piotrowicz, Małgorzata; Wierzba, Jolanta; Posmyk, Renata; Bal, Jerzy; Majewski, Jacek Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Destabilization of mutated human PUS3 protein causes intellectual disability. Issue 12 (2nd October 2022) Authors: Lin, Ting‐Yu; Smigiel, Robert; Kuzniewska, Bozena; Chmielewska, Joanna J.; Kosińska, Joanna; Biela, Mateusz; Biela, Anna; Kościelniak, Anna; Dobosz, Dominika; Laczmanska, Izabela; Chramiec‐Głąbik, Andrzej; Jeżowski, Jakub; Nowak, Jakub; Gos, Monika; Rzonca‐Niewczas, Sylwia; Dziembowska, Magdalena... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2063 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy. (May 2021) Authors: Jędrzejowska, Maria; Potulska-Chromik, Anna; Gos, Monika; Gambin, Tomasz; Dębek, Emilia; Rosiak, Edyta; Stępień, Agnieszka; Szymańczak, Robert; Wojtaś, Bartosz; Gielniewski, Bartłomiej; Ciara, Elżbieta; Sobczyńska, Agnieszka; Chrzanowska, Krystyna; Kostera-Pruszczyk, Anna; Madej-Pilarczyk, Agnieszka Journal: European journal of paediatric neurology Issue: Volume 32(2021) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease. Issue 7 (25th May 2018) Authors: Gos, Monika; Smigiel, Robert; Kaczan, Teresa; Landowska, Aleksandra; Abramowicz, Anna; Sasiadek, Malgorzata; Bal, Jerzy Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1670 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Issue 2 (30th November 2016) Authors: Punetha, Jaya; Kesari, Akanchha; Hoffman, Eric P.; Gos, Monika; Kamińska, Anna; Kostera‐Pruszczyk, Anna; Hausmanowa‐Petrusewicz, Irena; Hu, Ying; Zou, Yaqun; Bönnemann, Carsten G.; JȨdrzejowska, Maria Journal: Muscle & nerve Issue: Volume 55:Issue 2(2017) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Issue 6 (20th March 2015) Authors: Yamamoto, Guilherme Lopes; Aguena, Meire; Gos, Monika; Hung, Christina; Pilch, Jacek; Fahiminiya, Somayyeh; Abramowicz, Anna; Cristian, Ingrid; Buscarilli, Michelle; Naslavsky, Michel Satya; Malaquias, Alexsandra C; Zatz, Mayana; Bodamer, Olaf; Majewski, Jacek; Jorge, Alexander A L; Pereira, Alex... Journal: Journal of medical genetics Issue: Volume 52:Issue 6(2015) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. (January 2015) Authors: Craiu, Dana; Dragostin, Octavia; Dica, Alice; Hoffman-Zacharska, Dorota; Gos, Monika; Bastian, Alexandra Eugenia; Gherghiceanu, Mihaela; Rolfs, Arndt; Nahavandi, Nahid; Craiu, Mihai; Iliescu, Catrinel Journal: European journal of paediatric neurology Issue: Volume 19:Number 1(2015:Jan.) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. Issue 1 (26th October 2018) Authors: Jędrzejowska, Maria; Dębek, Emilia; Kowalczyk, Bartłomiej; Halat, Paulina; Kostera‐Pruszczyk, Anna; Ciara, Elżbieta; Jezela‐Stanek, Aleksandra; Rydzanicz, Małgorzata; Gasperowicz, Piotr; Gos, Monika Journal: Muscle & nerve Issue: Volume 59:Issue 1(2019) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗