1. Cerebral hypomyelination associated with biallelic variants of FIG4. Issue 5 (28th February 2019) Authors: Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul‐Fernandez, Miriam; Rodriguez‐Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical Comparison of Overlapping Deletions of 19p13.3. Issue 5 (22nd April 2013) Authors: Risheg, Hiba; Pasion, Romela; Sacharow, Stephanie; Proud, Virginia; Immken, LaDonna; Schwartz, Stuart; Tepperberg, Jim H.; Papenhausen, Peter; Tan, Tiong Y.; Andrieux, Joris; Plessis, Ghislaine; Amor, David J.; Keitges, Elisabeth A. Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020) Authors: Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020) Authors: Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A). (20th October 2020) Authors: Kaur, Simranpreet; Van Bergen, Nicole J.; Ben-Zeev, Bruria; Leonardi, Emanuela; Tan, Tiong Y.; Coman, David; Kamien, Benjamin; White, Susan M.; St John, Miya; Phelan, Dean; Rigbye, Kristin; Lim, Sze Chern; Torres, Michelle C.; Marty, Melanie; Savva, Elena; Zhao, Teresa; Massey, Sean; Murgia, Ales... Journal: Journal of genetics and genomics Issue: Volume 47:Number 10(2020) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Issue 11 (November 2020) Authors: Lunke, Sebastian; Eggers, Stefanie; Wilson, Meredith; Patel, Chirag; Barnett, Christopher P.; Pinner, Jason; Sandaradura, Sarah A.; Buckley, Michael F.; Krzesinski, Emma I.; de Silva, Michelle G.; Brett, Gemma R.; Boggs, Kirsten; Mowat, David; Kirk, Edwin P.; Adès, Lesley C.; Akesson, Lauren S.; ... Journal: Obstetrical & gynecological survey Issue: Volume 75:Issue 11(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Issue 5 (7th March 2022) Authors: Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Romanelli Tavares, Vanessa L.; Moisset, Hugo; Zechi‐Ceide, Roseli; Kokitsu‐Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Gherbi Halem, Souad; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Dap... Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence. Issue 8 (August 2014) Authors: Gordon, Christopher T.; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y.; Munnich, Arnold; Pennacchio, Len A.; Abadie, Véronique; Temple, I. Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A.; Visel, Axel; Lyonnet, ... Journal: Human mutation Issue: Volume 35:Issue 8(2014:Aug.) Page Start: 1011 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Issue 1 (11th November 2020) Authors: Helman, Guy; Compton, Alison G.; Hock, Daniella H.; Walkiewicz, Marzena; Brett, Gemma R.; Pais, Lynn; Tan, Tiong Y.; De Paoli‐Iseppi, Ricardo; Clark, Michael B.; Christodoulou, John; White, Susan M.; Thorburn, David R.; Stroud, David A.; Stark, Zornitza; Simons, Cas Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗