A. Hynes

发表

Functional modelling of a novel mutation in BBS5

J. Sayer, R. Simms, B. Meyer, 2014, Cilia.

Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole

R. Quinton, J. Sayer, A. Hynes, 2015, Clinical kidney journal.

Clinical and Functional Characterization of URAT1 Variants

Z. Gucev, V. Tasic, H. Cheong, 2011, PloS one.

CYP24A1 mutation leading to nephrocalcinosis.

J. Sayer, A. Hynes, J. Sayers, 2014, Kidney international.

Adjuvant rituximab, a potential treatment for the young patient with Graves’ hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial

M. Cole, D. Howel, N. Zammitt, 2019, BMJ Open.

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Z. Gucev, V. Tasic, D. Thwaites, 2015, Journal of the American Society of Nephrology : JASN.

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

P. Thelwall, N. Simmons, J. Sayer, 2014, Proceedings of the National Academy of Sciences.

Does efavirenz replacement improve neurological function in treated HIV infection?

A. Blamire, K. Anderson, B. Payne, 2017, HIV medicine.

Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity

P. Welling, J. Sayer, K. Wood, 2013, Physiological reports.

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

K. Cimprich, J. Sayer, M. Zeman, 2015, The Journal of clinical investigation.

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

J. Goodship, V. Vega-Warner, E. Otto, 2015, BMC Medical Genetics.

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

J. Sayer, R. Simms, B. Chaudhry, 2011, Cellular and Molecular Life Sciences.

Nephronophthisis: A Genetically Diverse Ciliopathy

J. Sayer, R. Simms, L. Eley, 2011, International journal of nephrology.

Nasal Airway Obstruction Study (NAIROS): a phase III, open-label, mixed-methods, multicentre randomised controlled trial of septoplasty versus medical management of a septal deviation with nasal obstruction

D. Stocken, D. Howel, L. Rooshenas, 2020, Trials.

A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

Yaobo Xu, M. Santibanez-Koref, D. Thwaites, 2014, Clinical kidney journal.

Is there anything good in uric acid?

J. Sayer, A. Hynes, 2012, QJM : monthly journal of the Association of Physicians.

Gastrostomy versus nasogastric tube feeding for chemoradiation patients with head and neck cancer: the TUBE pilot RCT.

D. Stocken, T. Rapley, D. Craig, 2018, Health technology assessment.

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

S. Lindsay, J. Sayer, R. Simms, 2012, PloS one.

Surveillance versus ablation for incidentally diagnosed small renal tumours: the SURAB feasibility RCT.

D. Breen, D. Stocken, G. Oades, 2017, Health technology assessment.

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

J. Sayer, R. Simms, B. Chaudhry, 2012, Cellular and Molecular Life Sciences.

Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family

J. Sayer, J. Roozbeh, M. Sharifian, 2011, NDT plus.

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

J. Sayer, M. Zeman, R. Giles, 2015, The Journal of clinical investigation.

Searching for CYP24A1 mutations in cohorts of patients with calcium nephrolithiasis

J. Sayer, P. Hogg, A. Hynes, 2013 .

Adjuvant rituximab, a potential treatment for the young patient with Graves’ hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial

M. Cole, D. Howel, N. Zammitt, 2019, BMJ Open.