1. Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN). Issue 7 (13th May 2019) Authors: Gregory, Allison; Lotia, Mitesh; Jeong, Suh Young; Fox, Rachel; Zhen, Dolly; Sanford, Lynn; Hamada, Jeff; Jahic, Amir; Beetz, Christian; Freed, Alison; Kurian, Manju A.; Cullup, Thomas; van der Weijden, Marlous C. M.; Nguyen, Vy; Setthavongsack, Naly; Garcia, Daphne; Krajbich, Victoria; Pham, Tha... Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Issue 3 (5th December 2019) Authors: Fassad, Mahmoud R.; Shoman, Walaa I.; Morsy, Heba; Patel, Mitali P.; Radwan, Nesrine; Jenkins, Lucy; Cullup, Thomas; Fouda, Eman; Mitchison, Hannah M.; Fasseeh, Nader Journal: Clinical genetics Issue: Volume 97:Issue 3(2020) Page Start: 509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. Issue 2 (April 2020) Authors: Steel, Edward; Hurst, Jane A; Cullup, Thomas; Calder, Alistair; Sivakumar, Branavan; Shah, Pratik; Wilson, Louise C Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. (June 2021) Authors: Forny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima Journal: Neurology Issue: Volume 7:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. Issue 5 (25th December 2019) Authors: Fassad, Mahmoud R.; Patel, Mitali P.; Shoemark, Amelia; Cullup, Thomas; Hayward, Jane; Dixon, Mellisa; Rogers, Andrew V.; Ollosson, Sarah; Jackson, Claire; Goggin, Patricia; Hirst, Robert A.; Rutman, Andrew; Thompson, James; Jenkins, Lucy; Aurora, Paul; Moya, Eduardo; Chetcuti, Philip; O'Callagha... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 322 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Issue 2 (8th August 2017) Authors: Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A; Patel, Mitali P; Robson, Evelyn A; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R; Lamb, William; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S; Rogers, Andrew V; Rutman, Andrew; Jackson, Claire L; Goggin, Patricia; Rubbo, Bruna; Olloss... Journal: Thorax Issue: Volume 73:Issue 2(2018) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 14 Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. (30th November 2020) Authors: Steel, Edward; Hurst, Jane; Cullup, Thomas; Calder, Alistair; Sivakumar, Branavan; Shah, Pratik; Wilson, Louise Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 17 Using whole genome sequencing to make new diagnoses in paediatrics: successes, challenges and lifelong learning. (22nd November 2019) Authors: Menzies, Lara; Morrogh, Deborah; Cullup, Thomas; Buckton, Andrew; Clement, Emma; Kumar, Ajith; Hurst, Jane Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11. Issue 2 (22nd February 2018) Authors: Shoemark, Amelia; Burgoyne, Thomas; Kwan, Robert; Dixon, Mellisa; Patel, Mitali P.; Rogers, Andrew V.; Onoufriadis, Alexandros; Scully, Juliet; Daudvohra, Farheen; Cullup, Thomas; Loebinger, Michael R.; Wilson, Robert; Chung, Eddie M.K.; Bush, Andrew; Mitchison, Hannah M.; Hogg, Claire Journal: European respiratory journal Issue: Volume 51:Issue 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Issue 2 (30th August 2018) Authors: Best, Sunayna; Shoemark, Amelia; Rubbo, Bruna; Patel, Mitali P; Fassad, Mahmoud R; Dixon, Mellisa; Rogers, Andrew V; Hirst, Robert A; Rutman, Andrew; Ollosson, Sarah; Jackson, Claire L; Goggin, Patricia; Thomas, Simon; Pengelly, Reuben; Cullup, Thomas; Pissaridou, Eleni; Hayward, Jane; Onoufriadi... Journal: Thorax Issue: Volume 74:Issue 2(2019) Page Start: 203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗