1. 46, XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing. (December 2016) Authors: Grimbly, Chelsey; Caluseriu, Oana; Metcalfe, Peter; Jetha, Mary; Rosolowsky, Elizabeth Journal: International journal of pediatric endocrinology Issue: Volume 2016(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome. Issue 9 (5th January 2023) Authors: Rizvi, Midhat; Truong, Tina K; Zhou, Janet; Batta, Manav; Moran, Ellen S; Pappas, John; Chu, Mary Lynn; Caluseriu, Oana; Evrony, Gilad D; Leslie, Elaine M; Cordat, Emmanuelle Journal: Human molecular genetics Issue: Volume 32:Issue 9(2023) Page Start: 1552 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism. Issue 4 (26th July 2021) Authors: Phillips, Eliza A.; Caluseriu, Oana; Schlade-Bartusiak, Kamilla; Chernos, Judy; McLeod, D. Ross; Thomas, Mary Ann Journal: Clinical dysmorphology Issue: Volume 30:Issue 4(2021) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism. Issue 4 (October 2021) Authors: Phillips, Eliza A.; Caluseriu, Oana; Schlade-Bartusiak, Kamilla; Chernos, Judy; McLeod, D. Ross; Thomas, Mary Ann Journal: Clinical dysmorphology Issue: Volume 30:Issue 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists. Issue 10 (20th September 2021) Authors: Lazier, Joanna; Hartley, Taila; Brock, Jo-Ann; Caluseriu, Oana; Chitayat, David; Laberge, Anne-Marie; Langlois, Sylvie; Lauzon, Julie; Nelson, Tanya N; Parboosingh, Jillian; Stavropoulos, Dimitri J; Boycott, Kym; Armour, Christine M Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. Issue 2 (19th November 2022) Authors: Mainali, Apurba; Athey, Taryn; Bahl, Shalini; Hung, Clara; Caluseriu, Oana; Chan, Alicia; Eaton, Alison; Ghai, Shailly Jain; Kannu, Peter; MacPherson, Melissa; Niederhoffer, Karen Y.; Siriwardena, Komudi; Mercimek‐Andrews, Saadet Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Extra‐cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot. (27th January 2022) Authors: Sharma, Rishav; Niederhoffer, Karen Y.; Caluseriu, Oana; Cooke, Christy‐Lynn; Hornberger, Lisa K.; He, Rose; Eckersley, Luke; Lin, Lily; Rushfeldt, Michelle; McBrien, Angela Journal: Prenatal diagnosis Issue: Volume 42:Number 2(2022) Page Start: 260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes. (27th June 2021) Authors: Young, Aisling A.; McBrien, Angela; Caluseriu, Oana; Haberer, Kim; Wewala, Gayathri; Eckersley, Luke; Hornberger, Lisa K. Journal: Prenatal diagnosis Issue: Volume 41:Number 9(2021) Page Start: 1118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK. Issue 10 (6th August 2015) Authors: Au, P. Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil; Kline, Antonie D. Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 1009 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder. Issue 2 (25th November 2022) Authors: Roessler, Franziska; Beck, Anita E.; Susie, Ball; Tobias, Bartolomaeus; Begtrup, Amber; Biskup, Saskia; Caluseriu, Oana; Delanty, Norman; Fröhlich, Christine; Greally, Marie T.; Karnstedt, Maike; Klöckner, Chiara; Kurtzberg, Joanne; Schubert, Susanna; Schulze, Martin; Weidenbach, Michael; Westpha... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗