| Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene ER Pearson, SF Boj, AM Steele, T Barrett, K Stals, JP Shield, S Ellard, ... PLoS medicine 4 (4), e118, 2007 | 530 | 2007 |
| Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families S Igreja, HS Chahal, P King, GB Bolger, U Srirangalingam, L Guasti, ... Human mutation 31 (8), 950-960, 2010 | 204 | 2010 |
| AIP mutation in pituitary adenomas in the 18th century and today HS Chahal, K Stals, M Unterländer, DJ Balding, MG Thomas, AV Kumar, ... New England Journal of Medicine 364 (1), 43-50, 2011 | 194 | 2011 |
| Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers LC Hernández-Ramírez, P Gabrovska, J Dénes, K Stals, G Trivellin, ... The Journal of Clinical Endocrinology & Metabolism 100 (9), E1242-E1254, 2015 | 181 | 2015 |
| Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort J Dénes, F Swords, E Rattenberry, K Stals, M Owens, T Cranston, ... The Journal of Clinical Endocrinology & Metabolism 100 (3), E531-E541, 2015 | 176 | 2015 |
| Hepatocyte nuclear factor-1β gene deletions—a common cause of renal disease EL Edghill, RA Oram, M Owens, KL Stals, LW Harries, AT Hattersley, ... Nephrology Dialysis Transplantation 23 (2), 627-635, 2008 | 128 | 2008 |
| WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 113 | 2018 |
| Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, ... Prenatal diagnosis 38 (1), 33-43, 2018 | 84 | 2018 |
| JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome K Guegan, K Stals, M Day, P Turnpenny, S Ellard Clinical genetics 82 (1), 33-40, 2012 | 77 | 2012 |
| An exome sequencing strategy to diagnose lethal autosomal recessive disorders S Ellard, E Kivuva, P Turnpenny, K Stals, M Johnson, W Xie, R Caswell, ... European Journal of Human Genetics 23 (3), 401-404, 2015 | 63 | 2015 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 62 | 2021 |
| HNF1B deletions in patients with young‐onset diabetes but no known renal disease EL Edghill, K Stals, RA Oram, MH Shepherd, AT Hattersley, S Ellard Diabetic medicine 30 (1), 114-117, 2013 | 54 | 2013 |
| A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome S Cuvertino, V Hartill, A Colyer, T Garner, N Nair, L Al-Gazali, N Canham, ... Genetics in Medicine 22 (5), 867-877, 2020 | 51 | 2020 |
| Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors P Marques, F Caimari, LC Hernández-Ramírez, D Collier, D Iacovazzo, ... The Journal of Clinical Endocrinology & Metabolism 105 (6), e2247-e2260, 2020 | 50 | 2020 |
| Risk category system to identify pituitary adenoma patients with AIP mutations F Caimari, LC Hernández-Ramírez, MN Dang, P Gabrovska, D Iacovazzo, ... Journal of Medical Genetics 55 (4), 254-260, 2018 | 42 | 2018 |
| Recurrent de novo NAHR reciprocal duplications in the ATAD3 gene cluster cause a neurogenetic trait with perturbed cholesterol and mitochondrial metabolism AC Gunning, K Strucinska, MM Oreja, A Parrish, R Caswell, KL Stals, ... The American Journal of Human Genetics 106 (2), 272-279, 2020 | 41 | 2020 |
| AIP mutation in pituitary adenomas. L Cazabat, J Bouligand, P Chanson The New England journal of medicine 364 (20), 1973-4; author reply 1974, 2011 | 41 | 2011 |
| BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms S Barish, TS Barakat, BC Michel, N Mashtalir, JB Phillips, AM Valencia, ... The American Journal of Human Genetics 107 (6), 1096-1112, 2020 | 40 | 2020 |
| Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland S Radian, Y Diekmann, P Gabrovska, B Holland, L Bradley, H Wallace, ... Human Mutation 38 (1), 78-85, 2017 | 38 | 2017 |
| Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1. M Owens, K Stals, S Ellard, B Vaidya Clinical endocrinology 70 (3), 499-500, 2008 | 32 | 2008 |
