| KLF6, a candidate tumor suppressor gene mutated in prostate cancer G Narla, KE Heath, HL Reeves, D Li, LE Giono, AC Kimmelman, ... Science 294 (5551), 2563-2566, 2001 | 615 | 2001 |
| Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, L Nigro, ... Nature genetics 26 (1), 103-105, 2000 | 403 | 2000 |
| Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like … KE Heath, A Campos-Barros, A Toren, G Rozenfeld-Granot, LE Carlsson, ... The American Journal of Human Genetics 69 (5), 1033-1045, 2001 | 391 | 2001 |
| Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats TJ Aitman, T Gotoda, AL Evans, H Imrie, KE Heath, PM Trembling, ... Nature genetics 16 (2), 197-201, 1997 | 194 | 1997 |
| Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis KE Heath, M Gahan, RA Whittall, SE Humphries Atherosclerosis 154 (1), 243-246, 2001 | 171 | 2001 |
| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis S Benito-Sanz, NS Thomas, C Huber, DG del Blanco, M Aza-Carmona, ... The American Journal of Human Genetics 77 (4), 533-544, 2005 | 157 | 2005 |
| Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature NN Hauer, B Popp, E Schoeller, S Schuhmann, KE Heath, A Hisado-Oliva, ... Genetics in Medicine 20 (6), 630-638, 2018 | 149 | 2018 |
| Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation ME Fernández-Sánchez, O Criado-García, KE Heath, B García-Fojeda, ... Human molecular genetics 12 (23), 3161-3171, 2003 | 137 | 2003 |
| Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations A Gkourogianni, M Andrew, L Tyzinski, M Crocker, J Douglas, N Dunbar, ... The Journal of Clinical Endocrinology & Metabolism 102 (2), 460-469, 2017 | 135 | 2017 |
| A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom KE Heath, SE Humphries, H Middleton-Price, M Boxer European journal of human genetics 9 (4), 244-252, 2001 | 128 | 2001 |
| The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with … KE Heath, V Gudnason, SE Humphries, M Seed Atherosclerosis 143 (1), 41-54, 1999 | 115 | 1999 |
| Primary Acid-Labile Subunit Deficiency due to Recessive IGFALS Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth … KE Heath, J Argente, V Barrios, J Pozo, F Díaz-González, ... The Journal of Clinical Endocrinology & Metabolism 93 (5), 1616-1624, 2008 | 88 | 2008 |
| Mutations in TOP3A cause a Bloom syndrome-like disorder CA Martin, CV Logan, RS Thakur, DA Parry, AH Bizard, A Leitch, L Cleal, ... The American Journal of Human Genetics 103 (2), 221-231, 2018 | 86 | 2018 |
| Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS) S Benito-Sanz, E Barroso, D Heine-Suñer, A Hisado-Oliva, V Romanelli, ... The Journal of Clinical Endocrinology & Metabolism 96 (2), E404-E412, 2011 | 86 | 2011 |
| CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms V Romanelli, A Belinchon, S Benito‐Sanz, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 152 (6), 1390-1397, 2010 | 82 | 2010 |
| Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer S Benito-Sanz, JL Royo, E Barroso, B Paumard-Hernández, ... Journal of medical genetics 49 (7), 442-450, 2012 | 79 | 2012 |
| Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults L Riancho-Zarrabeitia, M García-Unzueta, JA Tenorio, JA Gómez-Gerique, ... European journal of internal medicine 29, 40-45, 2016 | 76 | 2016 |
| Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis A Hisado-Oliva, AI Garre-Vázquez, F Santaolalla-Caballero, A Belinchón, ... The Journal of Clinical Endocrinology & Metabolism 100 (8), E1133-E1142, 2015 | 76 | 2015 |
| A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies J Tenorio, P Navas, E Barrios, L Fernández, J Nevado, CA Quezada, ... Clinical Genetics 88 (6), 579-583, 2015 | 75 | 2015 |
| Mutations in C-Natriuretic Peptide (NPPC): a novel cause of autosomal dominant short stature. A Hisado-Oliva, A Ruzafa-Martin, L Sentchordi, MFA Funari, ... Genetics in Medicine, 2018 | 72 | 2018 |
