1. A family study implicates GBE1 in the etiology of autism spectrum disorder. Issue 1 (21st October 2021) Authors: Fanjul‐Fernández, Miriam; Brown, Natasha J.; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C.; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S.; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P.; Eichler, Evan E.; Del... Journal: Human mutation Issue: Volume 43:Issue 1(2022) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia. (November 2019) Authors: Sleigh, Jamie W.; Leslie, Kate; Davidson, Andrew J.; Amor, David J.; Diakumis, Peter; Lukic, Vesna; Lockhart, Paul J.; Bahlo, Melanie Journal: Anesthesiology Issue: Volume 131:Number 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. KCTD1 and Scalp-Ear-Nipple ('Finlay–Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains. (2nd January 2023) Authors: Wang, Dongmao; Trevillian, Paul; May, Stephen; Diakumis, Peter; Wang, Yanyan; Colville, Deb; Bahlo, Melanie; Greferath, Una; Fletcher, Erica; Young, Barbara; Mack, Heather G.; Savige, Judy Journal: Ophthalmic genetics Issue: Volume 44:Number 1(2023) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14. Issue 12 (7th November 2017) Authors: Stutterd, Chloe; Diakumis, Peter; Bahlo, Melanie; Fanjul Fernandez, Miriam; Leventer, Richard J.; Delatycki, Martin; Amor, David; Chow, Chung W.; Stephenson, Sarah; Meisler, Miriam H.; Mclean, Catriona; Lockhart, Paul J. Journal: Annals of clinical and translational neurology Issue: Volume 4:Issue 12(2017) Page Start: 859 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗