1. Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients. Issue 5 (6th August 2019) Authors: Salama, Yasser; Albanyan, Saleh; Szybowska, Marta; Bullivant, Garrett; Gallinger, Bailey; Giles, Rachel H.; Asa, Sylvia; Badduke, Chansonette; Chiorean, Andreea; Druker, Harriet; Ezzat, Shereen; Hannah‐Shmouni, Fady; Hernandez, Karen G.; Inglese, Cara; Jani, Payal; Kaur, Yuvreet; Krema, Hatem; Kr... Journal: Clinical genetics Issue: Volume 96:Issue 5(2019) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy. Issue 8 (30th June 2020) Authors: Earl, Brian R.; Szybowska, Marta; Marwaha, Ashish; Belostotsky, Vladimir; Lara‐Corrales, Irene; Pope, Elena; Kannu, Peter Journal: Journal of dermatology Issue: Volume 47:Issue 8(2020) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study. Issue 4 (24th June 2020) Authors: Shickh, Salma; Gutierrez Salazar, Mariana; Zakoor, Kathleen-Rose; Lázaro, Conxi; Gu, Jessica; Goltz, Jamie; Kleinman, Dakota; Noor, Abdul; Khalouei, Sam; Mighton, Chloe; Reble, Emma; Kodida, Rita; Bombard, Yvonne; DiTroia, Stephanie; Baxter, Samantha; Watkins, Nicholas; Care, Melanie; Adler, Arno... Journal: Journal of medical genetics Issue: Volume 58:Issue 4(2021) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. (18th April 2018) Authors: Cundy, Tim; Dray, Michael; Delahunt, John; Hald, Jannie Dahl; Langdahl, Bente; Li, Chumei; Szybowska, Marta; Mohammed, Shehla; Duncan, Emma L; McInerney‐Leo, Aideen M; Wheeler, Patricia G; Roschger, Paul; Klaushofer, Klaus; Rai, Jyoti; Weis, MaryAnn; Eyre, David; Schwarze, Ulrike; Byers, Peter H Journal: Journal of bone and mineral research Issue: Volume 33:Number 7(2018) Page Start: 1260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing. Issue 7 (5th May 2017) Authors: Li, Chumei; Wang, Yongdong; Szybowska, Marta Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1994 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. Issue 12 (18th September 2018) Authors: Hosseini, S. Mohsen; Kim, Raymond; Udupa, Sharmila; Costain, Gregory; Jobling, Rebekah; Liston, Eriskay; Jamal, Seema M.; Szybowska, Marta; Morel, Chantal F.; Bowdin, Sarah; Garcia, John; Care, Melanie; Sturm, Amy C.; Novelli, Valeria; Ackerman, Michael J.; Ware, James S.; Hershberger, Ray E.; Wi... Journal: Circulation Issue: Volume 138:Issue 12(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Issue 8 (27th June 2013) Authors: Curry, Cynthia J.; Rosenfeld, Jill A.; Grant, Erica; Gripp, Karen W.; Anderson, Carol; Aylsworth, Arthur S.; Saad, Taha Ben; Chizhikov, Victor V.; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, ... Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗