| New insights into the genetic etiology of Alzheimer’s disease and related dementias C Bellenguez, F Küçükali, IE Jansen, L Kleineidam, S Moreno-Grau, ... Nature genetics 54 (4), 412-436, 2022 | 1007 | 2022 |
| The burden of rare diseases CR Ferreira American journal of medical genetics Part A 179 (6), 885-892, 2019 | 364 | 2019 |
| Lysosomal storage diseases CR Ferreira, WA Gahl Translational science of rare diseases 2 (1-2), 1-71, 2017 | 320 | 2017 |
| Elective cancer surgery in COVID-19–free surgical pathways during the SARS-CoV-2 pandemic: an international, multicenter, comparative cohort study JC Glasbey, D Nepogodiev, JFF Simoes, O Omar, E Li, ML Venn, PGDME, ... Journal of Clinical Oncology 39 (1), 66-78, 2021 | 261 | 2021 |
| Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study KM Moore, J Nicholas, M Grossman, CT McMillan, DJ Irwin, L Massimo, ... The Lancet Neurology 19 (2), 145-156, 2020 | 250 | 2020 |
| A proposed nosology of inborn errors of metabolism CR Ferreira, CDM van Karnebeek, J Vockley, N Blau Genetics in medicine 21 (1), 102-106, 2019 | 235 | 2019 |
| Acute heart failure congestion and perfusion status–impact of the clinical classification on in‐hospital and long‐term outcomes; insights from the ESC‐EORP‐HFA Heart Failure … O Chioncel, A Mebazaa, AP Maggioni, VP Harjola, G Rosano, C Laroche, ... European journal of heart failure 21 (11), 1338-1352, 2019 | 231 | 2019 |
| Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores I De Rojas, S Moreno-Grau, N Tesi, B Grenier-Boley, V Andrade, ... Nature communications 12 (1), 3417, 2021 | 190 | 2021 |
| Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study DM Cash, M Bocchetta, DL Thomas, KM Dick, JC van Swieten, B Borroni, ... Neurobiology of aging 62, 191-196, 2018 | 183 | 2018 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 171 | 2021 |
| In‐hospital and 1‐year mortality associated with diabetes in patients with acute heart failure: results from the ESC‐HFA Heart Failure Long‐Term Registry G Targher, M Dauriz, C Laroche, PL Temporelli, M Hassanein, ... European journal of heart failure 19 (1), 54-65, 2017 | 167 | 2017 |
| Nosology of genetic skeletal disorders: 2023 revision S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, ... American Journal of Medical Genetics Part A 191 (5), 1164-1209, 2023 | 149 | 2023 |
| Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation C Lam, C Ferreira, D Krasnewich, C Toro, L Latham, WM Zein, T Lehky, ... Genetics in Medicine 19 (2), 160-168, 2017 | 144 | 2017 |
| 22q11. 2 deletion syndrome in diverse populations P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ... American Journal of Medical Genetics Part A 173 (4), 879-888, 2017 | 141 | 2017 |
| Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation L Guo, DR Bertola, A Takanohashi, A Saito, Y Segawa, T Yokota, ... The American Journal of Human Genetics 104 (5), 925-935, 2019 | 114 | 2019 |
| International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 113 | 2019 |
| Dietary inflammatory index and all-cause mortality in large cohorts: The SUN and PREDIMED studies A Garcia-Arellano, MA Martínez-González, R Ramallal, J Salas-Salvadó, ... Clinical Nutrition 38 (3), 1221-1231, 2019 | 112 | 2019 |
| Unravelling the interplay between hyperkalaemia, renin–angiotensin–aldosterone inhibitor use and clinical outcomes. Data from 9222 chronic heart failure patients of the ESC‐HFA … P Rossignol, M Lainscak, MG Crespo‐Leiro, C Laroche, MF Piepoli, ... European journal of heart failure 22 (8), 1378-1389, 2020 | 109 | 2020 |
| Recognizable phenotypes in CDG CR Ferreira, R Altassan, D Marques-Da-Silva, R Francisco, J Jaeken, ... Journal of inherited metabolic disease 41, 541-553, 2018 | 96 | 2018 |
| Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase SG Ziegler, CR Ferreira, EG MacFarlane, RC Riddle, RE Tomlinson, ... Science translational medicine 9 (393), eaal1669, 2017 | 95 | 2017 |
