1. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. Issue 11 (11th October 2018) Authors: Riggs, Erin R.; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D.; Collinson, Morag N.; Fan, Yao‐Shan; Goodenberger, McKinsey L.; Golden, Denae M.; Haglund‐Hazy, Linda; Krgovic, Danijela; Lamb, Allen N.; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld‐Kaise... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. Issue 4 (15th January 2016) Authors: Salter, Claire G.; Baralle, Diana; Collinson, Morag N.; Self, James E. Journal: American journal of medical genetics Issue: Volume 170:Issue 4(2016) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities. Issue 2 (1st December 2017) Authors: Bateman, Mark S.; Collinson, Morag N.; Bunyan, David J.; Collins, Amanda L.; Duncan, Philippa; Firth, Rachel; Harrison, Victoria; Homfray, Tessa; Huang, Shuwen; Kirk, Beth; Lachlan, Katherine L.; Maloney, Viv K.; Barber, John C. K. Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Inherited 2q23.1 microdeletions involving the MBD5 locus. Issue 5 (8th August 2017) Authors: Tadros, Shereen; Wang, Rubin; Waters, Jonathan J.; Waterman, Christine; Collins, Amanda L.; Collinson, Morag N.; Ahn, Joo W.; Josifova, Dragana; Chetan, Ravi; Kumar, Ajith Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 5(2017) Page Start: 608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance. (11th June 2015) Authors: Barber, John C. K.; Rosenfeld, Jill A.; Graham, John M.; Kramer, Nancy; Lachlan, Katherine L.; Bateman, Mark S.; Collinson, Morag N.; Stadheim, Barbro Fossøy; Turner, Claire L. S.; Gauthier, Jacqueline N.; Reimschisel, Tyler E.; Qureshi, Athar M.; Dabir, Tabib A.; Humphreys, Mervyn W.; Marble, Mi... Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pigmentary anomaly caused by mosaic 3q22.2q29 duplication. (1st December 2022) Authors: Martinez‐Falero, Beatriz Suarez; Koutalopoulou, Anastasia; Douglas, Andrew G. L.; Kharbanda, Mira; Collinson, Morag N.; Lotery, Andrew; Lotery, Helen Journal: Clinical and experimental dermatology Issue: Volume 47:Number 12(2022) Page Start: 2342 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pigmentary anomaly caused by mosaic 3q22.2q29 duplication. (30th September 2022) Authors: Martinez‐Falero, Beatriz Suarez; Koutalopoulou, Anastasia; Douglas, Andrew G. L.; Kharbanda, Mira; Collinson, Morag N.; Lotery, Andrew; Lotery, Helen Journal: Clinical and experimental dermatology Issue: Volume 47:Number 12(2022) Page Start: 2342 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition. (3rd September 2015) Authors: Ashraf, Tazeen; Collinson, Morag N.; Fairhurst, Joanna; Wang, Rubin; Wilson, Louise C.; Foulds, Nicola Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗