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. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study. Issue 12 (23rd September 2022) Authors: Rosenbohm, Angela; Pott, Hendrik; Thomsen, Mirja; Rafehi, Haloom; Kaya, Sabine; Szymczak, Silke; Volk, Alexander E.; Mueller, Kathrin; Silveira, Isabel; Weishaupt, Jochen H.; Tönnies, Holger; Seibler, Philip; Zschiedrich, Katja; Schaake, Susen; Westenberger, Ana; Zühlke, Christine; Depienne, Chri... Journal: Movement disorders Issue: Volume 37:Issue 12(2022) Page Start: 2427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update. (July 2019) Authors: Stephenson, Sarah EM; Djaldetti, Ruth; Rafehi, Haloom; Wilson, Gabrielle R.; Gillies, Greta; Bahlo, Melanie; Lockhart, Paul J. Journal: Parkinsonism & related disorders Issue: Volume 64(2019) Page Start: 308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Issue 1 (7th May 2022) Authors: Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M.; Ewenczyk, Claire; Davies, Kayli C.; Lino‐Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R. E.; van der Stelt, Ivo; Howell, Katherine B.; Coutelier, Marie; Amor, David J.; M... Journal: Annals of neurology Issue: Volume 92:Issue 1(2022) Page Start: 122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Improving understanding of chromatin regulatory proteins and potential implications for drug discovery. (2nd April 2016) Authors: Rafehi, Haloom; Khan, Abdul Waheed; El-Osta, Assam Journal: Expert review of proteomics Issue: Volume 13:Number 4(2016) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Infanticide vs. inherited cardiac arrhythmias. Issue 3 (17th November 2020) Authors: Brohus, Malene; Arsov, Todor; Wallace, David A; Jensen, Helene Halkjær; Nyegaard, Mette; Crotti, Lia; Adamski, Marcin; Zhang, Yafei; Field, Matt A; Athanasopoulos, Vicki; Baró, Isabelle; Ribeiro de Oliveira-Mendes, Bárbara B; Redon, Richard; Charpentier, Flavien; Raju, Hariharan; DiSilvestre, Deb... Journal: Europace Issue: Volume 23:Issue 3(2021) Page Start: 441 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MeCP2 interacts with chromosomal microRNAs in brain. Issue 12 (2nd December 2017) Authors: Khan, Abdul Waheed; Ziemann, Mark; Rafehi, Haloom; Maxwell, Scott; Ciccotosto, Giuseppe D.; El-Osta, Assam Journal: Epigenetics Issue: Volume 12:Issue 12(2017) Page Start: 1028 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Metabolism and chromatin dynamics in health and disease. (April 2017) Authors: Rodriguez, Hanah; Rafehi, Haloom; Bhave, Mrinal; El-Osta, Assam Journal: Molecular aspects of medicine Issue: Volume 54(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Multicellular Transcriptional Analysis of Mammalian Heart Regeneration. Issue 12 (19th September 2017) Authors: Quaife-Ryan, Gregory A.; Sim, Choon Boon; Ziemann, Mark; Kaspi, Antony; Rafehi, Haloom; Ramialison, Mirana; El-Osta, Assam; Hudson, James E.; Porrello, Enzo R. Journal: Circulation Issue: Volume 136:Issue 12(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data. Issue 9 (14th May 2020) Authors: Rafehi, Haloom; Szmulewicz, David J.; Pope, Kate; Wallis, Mathew; Christodoulou, John; White, Susan M.; Delatycki, Martin B.; Lockhart, Paul J.; Bahlo, Melanie Journal: Movement disorders Issue: Volume 35:Issue 9(2020) Page Start: 1675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗