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Carlos R. Ferreira
Carlos R. Ferreira
National Human Genome Research Institute
Verified email at mail.nih.gov
Title
Cited by
Cited by
Year
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
11672022
The burden of rare diseases
CR Ferreira
American journal of medical genetics Part A 179 (6), 885-892, 2019
3932019
Lysosomal storage diseases
CR Ferreira, WA Gahl
Translational science of rare diseases 2 (1-2), 1-71, 2017
3272017
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
2712021
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
2612020
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
2512019
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
2442019
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
2082021
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
1922021
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
1862018
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
1752023
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
1712017
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
1502017
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
1462017
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
1232019
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
1192019
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
1162020
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
1132019
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
1022018
Sex‐and age‐related differences in the management and outcomes of chronic heart failure: an analysis of patients from the ESC HFA EORP Heart Failure Long‐Term Registry
M Lainščak, I Milinković, M Polovina, MG Crespo‐Leiro, LH Lund, ...
European journal of heart failure 22 (1), 92-102, 2020
1002020
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