1. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Issue 7 (July 2015) Authors: Noor, Abdul; Dupuis, Lucie; Mittal, Kirti; Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.; Stockley, Tracy; Vincent, John B.; Mendoza‐Londono, Roberto; Stavropoulos, Dimitri J. Journal: Human mutation Issue: Volume 36:Issue 7(2015:Jul.) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 16q22.1 microdeletion and anticipatory guidance. Issue 7 (29th May 2019) Authors: Abdullah, Sarah; Helal, Mayada; Dupuis, Lucie; Stavropoulos, D. James; Louro, Pedro; Ramos, Lina; Mendoza‐Londono, Roberto Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies. Issue 11 (8th October 2021) Authors: Joynt, Alyssa C. M.; Deshwar, Ashish R.; Zon, Jessica; Dupuis, Lucie; Wherrett, Diane K.; Mendoza‐Londono, Roberto Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 11(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Angelman Syndrome Due to a Termination Codon Mutation of the UBE3A Gene. (March 2013) Authors: Al-Maawali, Almundher; Machado, Jerry; Fang, Ping; Dupuis, Lucie; Faghfoury, Hannaneh; Mendoza-Londono, Roberto Journal: Journal of child neurology Issue: Volume 28:Number 3(2013) Page Start: 392 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris. Issue 3 (20th December 2013) Authors: Al‐Maawali, Almundher; Marshall, Christian R.; Scherer, Stephen W.; Dupuis, Lucie; Mendoza‐Londono, Roberto; Stavropoulos, Dimitri J. Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 796 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome. Issue 5 (6th February 2022) Authors: Damseh, Nadirah; Dupuis, Lucie; O'Connor, Constance; Oh, Rachel Youjin; Wang, Yi Wen; Stavropoulos, Dimitri James; Schwartz, Sarah B.; Mendoza‐Londono, Roberto Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease. Issue 4 (25th February 2019) Authors: Deshwar, Ashish R.; Spielmann, Malte; Vi, Lisa; Mendoza‐Londono, Roberto; Dupuis, Lucie; Stimec, Jennifer; Howard, Andrew; Harrington, Jennifer; Kannu, Peter Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria. (4th December 2015) Authors: Mendoza, Roberto; Dupuis, Lucie; Kannu, Peter; Hartley, Taila; Bareke, Eric; Boycott, Kym Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Issue 7 (16th May 2021) Authors: Szot, Justin O.; Slavotinek, Anne; Chong, Karen; Brandau, Oliver; Nezarati, Marjan; Cueto‐González, Anna M.; Patel, Millan S.; Devine, Walter P.; Rego, Shannon; Acyinena, Alicia P.; Shannon, Patrick; Myles‐Reid, Diane; Blaser, Susan; Mieghem, Tim V.; Yavuz‐Kienle, Halenur; Skladny, Heyko; Miller,... Journal: Human mutation Issue: Volume 42:Issue 7(2021) Page Start: 862 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis. Issue 10 (20th May 2019) Authors: Zirngibl, Ralph A.; Wang, Andrew; Yao, Yeqi; Manolson, Morris F.; Krueger, Joerg; Dupuis, Lucie; Mendoza‐Londono, Roberto; Voronov, Irina Journal: Journal of cellular biochemistry Issue: Volume 120:Issue 10(2019) Page Start: 17180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗