1. A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy. Issue 11 (27th August 2021) Authors: Rydzanicz, Małgorzata; Zwoliński, Piotr; Gasperowicz, Piotr; Pollak, Agnieszka; Kostrzewa, Grażyna; Walczak, Anna; Konarzewska, Magdalena; Płoski, Rafał Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Co‐occurrence of Jalili syndrome and muscular overgrowth. Issue 8 (6th June 2017) Authors: Wawrocka, Anna; Walczak‐Sztulpa, Joanna; Badura‐Stronka, Magdalena; Owecki, Michal; Kopczynski, Przemysław; Mrukwa‐Kominek, Ewa; Skorczyk‐Werner, Anna; Gasperowicz, Piotr; Ploski, Rafal; Krawczynski, Maciej R. Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2280 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease. (May 2018) Authors: Spólnicka, Magdalena; Zbieć-Piekarska, Renata; Karp, Marta; Machnicki, Marcin M.; Własiuk, Paulina; Makowska, Żanetta; Pięta, Agnieszka; Gambin, Tomasz; Gasperowicz, Piotr; Branicki, Wojciech; Giannopoulos, Krzysztof; Stokłosa, Tomasz; Płoski, Rafał Journal: Forensic science international Issue: Volume 34(2018) Page Start: e15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. Issue 6 (1st March 2018) Authors: Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Ślado... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. Issue 3 (2nd August 2018) Authors: Pilch, Jacek; Koppolu, Agnieszka A.; Walczak, Anna; Murcia Pienkowski, Victor A.; Biernacka, Anna; Skiba, Paweł; Machnik‐Broncel, Joanna; Gasperowicz, Piotr; Kosińska, Joanna; Rydzanicz, Małgorzata; Emich‐Widera, Ewa; Płoski, Rafał Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. (13th August 2018) Authors: Smigiel, Robert; Sherman, Diane L; Rydzanicz, Małgorzata; Walczak, Anna; Mikolajkow, Dorota; Krolak-Olejnik, Barbara; Kosińska, Joanna; Gasperowicz, Piotr; Biernacka, Anna; Stawinski, Piotr; Marciniak, Malgorzata; Andrzejewski, Witalij; Boczar, Maria; Krajewski, Paweł; Sasiadek, Maria M; Brophy, ... Journal: Human molecular genetics Issue: Volume 27:Number 21(2018:Nov. 01) Page Start: 3669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy. Issue 3 (30th January 2021) Authors: Materna-Kiryluk, Anna; Pollak, Agnieszka; Gawalski, Karol; Szczawinska-Poplonyk, Aleksandra; Rydzynska, Zuzanna; Sosnowska, Anna; Cukrowska, Bożena; Gasperowicz, Piotr; Konopka, Ewa; Pietrucha, Barbara; Grzywa, Tomasz M; Banaszak-Ziemska, Magdalena; Niedziela, Marek; Skalska-Sadowska, Jolanta; St... Journal: Human molecular genetics Issue: Volume 30:Issue 3/4(2021) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis. Issue 5 (2nd February 2022) Authors: Rydzanicz, Małgorzata; Glinkowski, Wojciech; Walczak, Anna; Koppolu, Agnieszka; Kostrzewa, Grażyna; Gasperowicz, Piotr; Pollak, Agnieszka; Stawiński, Piotr; Płoski, Rafał Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1482 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) ↗