Carlos R. Ferreira - Publications, H-index & Citations

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Carlos R. Ferreira

Eunice Kennedy Shriver National Institute of Child Health and Human Development

41H-index

222Paper Count

6.4KCitation Count

Published Papers 86

Publication Date

When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia

Current Osteoporosis Reports

IF5.3

2026-07-07

OAAI

Carlos R. Ferreira; Erik A. Imel

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CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease

IF3.8

2026-01-19

OAAI

D. Quelhas; C. R. Ferreira; J. Jaeken

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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2025-12-01

PREAI

Webb, Ryan F.; McCurry, Hannah; Girod, Amanda; Hughes, Madeline; Wilcox, Emma; Patel, Mayher; Broeren, Eleanor C.; Tshering, Kezang C.; Distefano, Marina; Botto, Lorenzo D.; Burrage, Lindsay C.; Cormier-Daire, Valerie; Dong, Juan; Ehmke, Nadja; Krakow, Deborah; Moosa, Shahida; Mortier, Geert; Nagamani, Sandesh; Pena, Loren; Sanchez-Lara, Pedro A.; Superti-Furga, Andrea; Unger, Sheila; Velasco, Danita; Warman, Matthew L.; Brown, Kerry; D'Cunha Burkardt, Deepika; Ferreira, Carlos R.

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Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis

Orphanet Journal of Rare Diseases

IF3.5

2025-11-20

OAAI

Marta Bertamino; David J. Goldberg; M. Zulf Mughal; Lisa Pabst; Yaping Joyce Liao; Lisa R. Sun; Jane Beckwell; Amina Kozaric; Ruth du Moulin; Katie Swanner; Carlos R. Ferreira; Shira G. Ziegler

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A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification

Molecular Genetics and Metabolism

IF3.5

2025-11-13

OAAI

Cecilia Giunta; Giulio Marcionelli; Carlos R. Ferreira; Nenad Blau; Marianne Rohrbach

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Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria

Molecular Genetics and Metabolism

IF3.5

2025-10-02

PREAI

Francis Rossignol; Kristen S. Pan; Monique B. Perry; Joy C. Bryant; Kevin J. O'Brien; Irene J. Castillo; Kathryn R. Spears; Carlos R. Ferreira; Mark D. Murphey; Matthew J. Minn; William A. Gahl; Wendy J. Introne

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Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-05-01

OAAI

Peacock, Dakota J. S. J.; Ferreira, Carlos R.; Horvath, Gabriella; Hoffmann, Georg F.; Blau, Nenad; Ebrahimi-Fakhari, Darius

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Rare disorders, big challenges: Special issue on congenital disorders of glycosylation

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-03-01

PREAI

Witters, Peter; Ferreira, Carlos R.

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Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2

JBMR PLUS

IF2.4

2025-01-30

OAAI

Ferreira, Carlos R.; Hackbarth, Mary E.; Nitschke, Yvonne; Botschen, Ulrike; Gafni, Rachel, I; Mughal, M. Zulf; Baujat, Genevieve; Schnabel, Dirk; Schou, I. Manjula; Khursigara, Gus; Reardon, Oona; Burklow, Thomas R.; Swanner, Kathleen; Rutsch, Frank

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Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-01-01

OAAI

Greene, Carol L.; Saenz-Ayala, Sofia; Strovel, Erin T.; Rossignol, Francis; Ferreira, Carlos R.; Blau, Nenad

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Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

JBMR PLUS

IF2.4

2024-11-26

OAAI

Obiezu, Fiona; Almpani, Konstantinia; Kim, Hung Jeffrey; Zalewski, Christopher; Chu, Emily; Jahanmir, Golnar; Roszko, Kelly L.; Boyce, Alison; Farhadi, Faraz; Weinstein, Lee S.; Gafni, Rachel, I; Ferreira, Carlos R.; Juppner, Harald; Collins, Michael T.; Lee, Janice S.; Jha, Smita

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Inherited phosphate and pyrophosphate disorders New insights and novel therapies changing the oral health landscape

JOURNAL OF THE AMERICAN DENTAL ASSOCIATION

IF3.5

2024-11-01

PREAI

Foster, Brian L.; Boyce, Alison M.; Millan, Jose Luis; Kramer, Kaitrin; Ferreira, Carlos R.; Somerman, Martha J.; Wright, J. Timothy

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Quantitative correlation of ENPP1 pathogenic variants with disease phenotype

BONE

IF3.6

2024-09-01

PREAI

Ansh, Anenya Jai; Stabach, Paul R.; Ciccone, Carla; Cao, Wenxiang; De La Cruz, Enrique M.; Sabbagh, Yves; Carpenter, Thomas O.; Ferreira, Carlos R.; Braddock, Demetrios T.

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Ocular findings in Jansen metaphyseal chondrodysplasia

JBMR PLUS

IF2.4

2024-07-12

OAAI

Obiezu, Fiona; Costa, M. Teresa Magone De Quadros; Huryn, Laryssa A.; Pan, Kristen; Almpani, Konstantinia; Ninan, Anisha; Roszko, Kelly L.; Weinstein, Lee S.; Gafni, Rachel, I; Ferreira, Carlos R.; Lee, Janice; Collins, Michael T.; Jha, Smita

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Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-05-01

OAAI

Ng, Bobby G.; Freeze, Hudson H.; Himmelreich, Nastassja; Blau, Nenad; Ferreira, Carlos R.

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Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC)

VASCULAR MEDICINE

IF3.3

2024-04-03

PREAI

Ferrante, Elisa A.; Cudrici, Cornelia D.; Rashidi, Mahmood; Fu, Yi-Ping; Huffstutler, Rebecca; Carney, Katherine; Chen, Marcus Y.; St Hilaire, Cynthia; Smith, Kevin; Bagheri, Hadi; Katz, James D.; Ferreira, Carlos R.; Gahl, William A.; Bohm, Manfred; Brofferio, Alessandra

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ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

ANNUAL REVIEW OF PATHOLOGY-MECHANISMS OF DISEASE

IF34.5

2024-01-24

OAAI

Ferreira, Carlos R.; Carpenter, Thomas O.; Braddock, Demetrios T.

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Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-12-01

OAAI

Dunlea, Eoghan; Crushell, Ellen; Cotter, Melanie; Blau, Nenad; Ferreira, Carlos R.

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Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-01

OAAI

Schumann, Anke; Schultheiss, Ulla T.; Ferreira, Carlos R.; Blau, Nenad

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Identification of potential non-invasive biomarkers in diastrophic dysplasia

BONE

IF3.6

2023-10-01

OAAI

Paganini, Chiara; Carroll, Ricki S.; Tota, Chiara Gramegna; Schelhaas, Andrea J.; Leone, Alessandra; Duker, Angela L.; O'Connell, David A.; Coghlan, Ryan F.; Johnstone, Brian; Ferreira, Carlos R.; Peressini, Sabrina; Albertini, Riccardo; Forlino, Antonella; Bonafe, Luisa; Campos-Xavier, Ana Belinda; Superti-Furga, Andrea; Zankl, Andreas; Rossi, Antonio; Bober, Michael B.

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Research Directions