1. A full molecular picture of F8 intron 1 inversion created with optical genome mapping. Issue 5 (7th July 2021) Authors: Fahiminiya, Somayyeh; Rivard, Georges‐Etienne; Scott, Patrick; Montpetit, Alexandre; Bacot, François; St‐Louis, Jean; Mitchell, Grant A.; Foulkes, William D.; Soucy, Jean‐Francois; Gauthier, Julie Journal: Haemophilia Issue: Volume 27:Issue 5(2021) Page Start: e638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. Issue 7 (6th March 2017) Authors: Frosk, Patrick; Arts, Heleen H; Philippe, Julien; Gunn, Carter S; Brown, Emma L; Chodirker, Bernard; Simard, Louise; Majewski, Jacek; Fahiminiya, Somayyeh; Russell, Chad; Liu, Yangfan P; Hegele, Robert; Katsanis, Nicholas; Goerz, Conrad; Del Bigio, Marc R; Davis, Erica E Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 490 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ARHGDIA: a novel gene implicated in nephrotic syndrome. Issue 5 (22nd February 2013) Authors: Gupta, Indra Rani; Baldwin, Cindy; Auguste, David; Ha, Kevin C H; El Andalousi, Jasmine; Fahiminiya, Somayyeh; Bitzan, Martin; Bernard, Chantal; Akbari, Mohammad Reza; Narod, Steven A; Rosenblatt, David S; Majewski, Jacek; Takano, Tomoko Journal: Journal of medical genetics Issue: Volume 50:Issue 5(2013) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma. (13th June 2018) Authors: Bah, Ismaël; Fahiminiya, Somayyeh; Bégin, Louis R; Hamel, Nancy; D'Agostino, Maria D; Tanguay, Simon; Foulkes, William D Journal: Journal of pathology Issue: Volume 4:Number 3(2018) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Diagnosis of Van den Ende–Gupta syndrome: Approach to the Marden–Walker‐like spectrum of disorders. Issue 9 (4th July 2016) Authors: Niederhoffer, Karen Y.; Fahiminiya, Somayyeh; Eydoux, Patrice; Mawson, John; Nishimura, Gen; Jerome‐Majewska, Loydie A.; Patel, Millan S. Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. Issue 2 (11th December 2012) Authors: McDonald-McGinn, Donna M; Fahiminiya, Somayyeh; Revil, Timothée; Nowakowska, Beata A; Suhl, Joshua; Bailey, Alice; Mlynarski, Elisabeth; Lynch, David R; Yan, Albert C; Bilaniuk, Larissa T; Sullivan, Kathleen E; Warren, Stephen T; Emanuel, Beverly S; Vermeesch, Joris R; Zackai, Elaine H; Jerome-Ma... Journal: Journal of medical genetics Issue: Volume 50:Issue 2(2013) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator. Issue 9 (12th July 2016) Authors: Pupavac, Mihaela; Watkins, David; Petrella, Francis; Fahiminiya, Somayyeh; Janer, Alexandre; Cheung, Warren; Gingras, Anne‐Claude; Pastinen, Tomi; Muenzer, Joseph; Majewski, Jacek; Shoubridge, Eric A.; Rosenblatt, David S. Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 976 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in WNT1 are a cause of osteogenesis imperfecta. Issue 5 (23rd February 2013) Authors: Fahiminiya, Somayyeh; Majewski, Jacek; Mort, John; Moffatt, Pierre; Glorieux, Francis H; Rauch, Frank Journal: Journal of medical genetics Issue: Volume 50:Issue 5(2013) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. Issue 6 (14th April 2015) Authors: Ben-Omran, Tawfeg; Fahiminiya, Somayyeh; Sorfazlian, Natalie; Almuriekhi, Mariam; Nawaz, Zafar; Nadaf, Javad; Khadija, Kitam Abu; Zaineddin, Samiha; Kamel, Hussein; Majewski, Jacek; Tropepe, Vincent Journal: Journal of medical genetics Issue: Volume 52:Issue 6(2015) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗