11. Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?. (14th May 2015) Authors: Lissewski, Christina; Kant, Sarina G.; Stark, Zornitza; Schanze, Ina; Zenker, Martin Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Cover Image, Volume 40, Issue 3. Issue 3 (10th February 2019) Authors: Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W... Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions. (21st January 2013) Authors: Stark, Zornitza; Massie, John; McClaren, Belinda; Ioannou, Liane; Cousens, Nicole; Lewis, Sharon; Metcalfe, Sylvia; Delatycki, Martin B. Journal: Twin research and human genetics Issue: Volume 16:Number 2(2013) Page Start: 601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Issue 11 (25th September 2017) Authors: Yates, T. Michael; Vasudevan, Pradeep C.; Chandler, Kate E.; Donnelly, Deirdre E; Stark, Zornitza; Sadedin, Simon; Willoughby, Josh; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Issue 11 (25th September 2017) Authors: Yates, T. Michael; Vasudevan, Pradeep C.; Chandler, Kate E.; Donnelly, Deirdre E; Stark, Zornitza; Sadedin, Simon; Willoughby, Josh; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1. Issue 12 (10th September 2015) Authors: Guy, Michael P.; Shaw, Marie; Weiner, Catherine L.; Hobson, Lynne; Stark, Zornitza; Rose, Katherine; Kalscheuer, Vera M.; Gecz, Jozef; Phizicky, Eric M. Journal: Human mutation Issue: Volume 36:Issue 12(2015:Dec.) Page Start: 1176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Issue 21 (11th February 2022) Authors: Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Boycott, K... Journal: Human molecular genetics Issue: Volume 31:Issue 21(2022) Page Start: 3597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Issue 5 (26th April 2017) Authors: Walsh, Maie; Bell, Katrina M.; Chong, Belinda; Creed, Emma; Brett, Gemma R.; Pope, Kate; Thorne, Natalie P.; Sadedin, Simon; Georgeson, Peter; Phelan, Dean G.; Day, Timothy; Taylor, Jessica A.; Sexton, Adrienne; Lockhart, Paul J.; Kiers, Lynette; Fahey, Michael; Macciocca, Ivan; Gaff, Clara L.; O... Journal: Annals of clinical and translational neurology Issue: Volume 4:Issue 5(2017) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗