Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

Jan Halbritter, Michelle A. Baum, Ann Marie Hynes, +12

Journal of the American Society of Nephrology

Monogenic CausesGeneticsRenal PathologyGenetic EpidemiologyPathology +14

Successful treatment of hypercalcaemia associated with a<i>CYP24A1</i>mutation with fluconazole: Fig. 1.

Judith A. Sayers, Ann Marie Hynes, Shalabh Srivastava, +4

Clinical Kidney Journal

Successful TreatmentRenal PathologyPathologySerum Calcium LevelsParathyroid Hormone +15

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

Ann Marie Hynes, Rachel H. Giles, Shalabh Srivastava, +12

Proceedings of the National Academy of Sciences

Clinical and Functional Characterization of URAT1 Variants

Velibor Tasić, Ann Marie Hynes, Kenichiro Kitamura, +6

PLoS ONE

Glomerular DiseaseGlomerulonephritisUrologyRenal DiseaseRenal Function +12

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

Gisela G. Slaats, Joshua C. Saldivar, Julien Bacal, +12

Journal of Clinical Investigation

GeneticsCep290-associated Joubert SyndromeMolecular BiologyCell DeathMolecular Genetics +16

Nephronophthisis: A Genetically Diverse Ciliopathy

Roslyn Simms, Ann Marie Hynes, Lorraine Eley, +1

International Journal of Nephrology

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

Vinidh Paleri, Joanne Patterson, Nikki Rousseau, +13

Health Technology Assessment

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

Roslyn Simms, Ann Marie Hynes, Lorraine Eley, +4

Cellular and Molecular Life Sciences

RetinaEssential RoleMedicineModel SystemsCiliary Body +8

CYP24A1 mutation leading to nephrocalcinosis

Frances Dowen, Judith A. Sayers, Ann Marie Hynes, +1

Kidney International

UrologyCyp24a1 MutationRenal PathologyPathologyMolecular Pathology +2

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

Emma Montgomery, John A. Sayer, Laura Baines, +5

BMC Medical Genetics