Carlos R. Ferreira

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

7.9Author DataRank

Indexed papers

4in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 4 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63132

Top 5%

4.6DataRank

Top 5%379 citations

Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder +16 more

Papers

Driven by 67 papers — median percentile 83. Top paper: “Nosology of genetic skeletal disorders: 2023 revision”.

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63132

Top 5%

4.6DataRank

Top 5%379 citations

Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder +16 more

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

Orphanet Journal of Rare Diseases(2022)10.1186/s13023-022-02577-2

Top 24%

0.847DataRank

Top 24%22 citations

Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch +2 more

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

Vascular Medicine(2024)10.1177/1358863x241235669

N/A

0.525DataRank · unranked

13 citations

Cornelia Cudrici, Mahmood Rashidi, Yi‐Ping Fu, Rebecca D. Huffstutler, Katherine Carney +10 more

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

Orphanet Journal of Rare Diseases(2022)10.1186/s13023-022-02410-w

N/A

0.452DataRank · unranked

11 citations

Carmen C. Brewer, Ralf Oheim, Christopher Zalewski, Kelly King, Maximillian M. Delsmann +6 more

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.12835

Top 45%

0.406DataRank

Top 45%13 citations

Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter +5 more

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0.330DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.02.007

N/A

0DataRank · unranked

23 citations

Robert Stowe, Carlos R. Ferreira, Nenad Blau, Gabriella Horváth

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Bone(2020)10.1016/j.bone.2019.115219

N/A

0DataRank · unranked

19 citations

Kristina Cusmano‐Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mıhçı +16 more

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Clinical Genetics(2020)10.1111/cge.13735

N/A

0DataRank · unranked

15 citations

Iris Noyman, Ohad Wormser, Abed Abu Quider, Guy Hazan, Iris Morag +6 more

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1544

N/A

0DataRank · unranked

15 citations

Ellen F. Macnamara, Precilla D’Souza, John Yang, Gilbert Vézina, Undiagnosed Diseases Network +5 more

Skeletal dysplasias in Latin America

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31861

N/A

0DataRank · unranked

12 citations

Virginia Fano, Cecília Mellado, Maria Dora Jazmin Lacarrubba‐Flores, Cynthia Silveira, Karina da Costa Silveira +8 more

Unique skeletal manifestations in patients with Primrose syndrome

European Journal of Medical Genetics(2020)10.1016/j.ejmg.2020.103967

N/A

0DataRank · unranked

11 citations

Eyby Leon, Jullianne Diaz, Hanne Hove, Daniel R. Carvalho, Kenji Kurosawa +7 more

Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice

Journal of Bone and Mineral Research(2020)10.1002/jbmr.4323

N/A

0DataRank · unranked

11 citations

Kristin Denton, Jamie L. Russell, Julia Kozlitina, Carlos R. Ferreira, Amy Feldman Lewanda +18 more

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management

Current Osteoporosis Reports(2020)10.1007/s11914-020-00577-4

N/A

0DataRank · unranked

40 citations

Rachel I. Gafni, Carlos R. Ferreira, Alison M. Boyce

Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.12.290

N/A

0DataRank · unranked

27 citations

Nenad Blau, Carlos R. Ferreira

Growth in individuals with Saul–Wilson syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61754

N/A

0DataRank · unranked

7 citations

Timothy Niiler, Angela L. Duker, Andrew P. Jackson, Michael B. Bober, Carlos R. Ferreira

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Journal of Bone and Mineral Research(2021)10.1002/jbmr.4418

N/A

0DataRank · unranked

74 citations

Kristina Kintzinger, Mary E. Hackbarth, Ulrike Botschen, Yvonne Nitschke, M. Zulf Mughal +10 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62245

N/A

0DataRank · unranked

28 citations

Carlos R. Ferreira, Catherine Groden, H Jeffrey Kim, Kelly King, Monique C. King +10 more

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Genetics in Medicine(2021)10.1038/s41436-021-01200-2

N/A

0DataRank · unranked

26 citations

Marvid S. Duarte Moreno, Jean‐François Benoist, Manfred Boehm, E. Bourrat, Aline Cano +28 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review

Clinical Genetics(2021)10.1111/cge.14005

N/A

0DataRank · unranked

25 citations

Alexis C. Gimovsky, Carlos R. Ferreira, Elizabeth Critchlow, Huda B. Al‐Kouatly, Neel S. Iyer

Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.03.008

N/A

0DataRank · unranked

16 citations

Nenad Blau, Carlos R. Ferreira, Gabriella Horváth

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.07.005

N/A

0DataRank · unranked

16 citations

Diego Martinelli, Nenad Blau, Carlos R. Ferreira

Response to Stern et al.

Genetics in Medicine(2021)10.1038/s41436-021-01229-3

N/A

0DataRank · unranked

4 citations

Carlos R. Ferreira, Shira G. Ziegler

Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.09.004

N/A

0DataRank · unranked

16 citations

Alberto B. Burlina, Nenad Blau, Carlos R. Ferreira, C. Angelini

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Human Molecular Genetics(2022)10.1093/hmg/ddac173

N/A

0DataRank · unranked

13 citations

Matt C. Danzi, André B. P. Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender +13 more

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in Medicine(2022)10.1016/j.gim.2022.09.007

N/A

0DataRank · unranked

11 citations

Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt +39 more

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.002

N/A

0DataRank · unranked

12 citations

Carlos R. Ferreira, Camiel J. F. Boon, Clara D.M. van Karnebeek, Nenad Blau, Alejandro Garanto

Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.03.011

N/A

0DataRank · unranked

9 citations

Nenad Blau, Carlos R. Ferreira, Teodoro Jerves

De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62695

N/A

0DataRank · unranked

7 citations

Nivedita Sengupta, Carlos R. Ferreira, Joshua G. Pemberton, Ilse J. Anderson, Xin Wang +5 more

Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.09.005

N/A

0DataRank · unranked

6 citations

Hélène Blasco, John J. Galvin, Carlos R. Ferreira, Nenad Blau, D. Bakhos

Characterization of Hearing-Impairment in Generalized Arterial Calcification of Infancy (GACI)

Research Square(2022)10.21203/rs.3.rs-1261847/v1

N/A

0DataRank · unranked

1 citations

Carmen C. Brewer, Ralf Oheim, Christopher Zalewski, Kelly King, Maximillian M. Delsmann +6 more

Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotype

The FASEB Journal(2022)10.1096/fasebj.2022.36.s1.r5223

N/A

0DataRank · unranked

0 citations

Paul R. Stabach, Thomas O. Carpenter, Carlos R. Ferreira, Demetrios T. Braddock, Anenya J. Ansh

Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults

The FASEB Journal(2022)10.1096/fasebj.2022.36.s1.r5311

N/A

0DataRank · unranked

0 citations

Catherine Nester, C. O’Brien, Paul R. Stabach, Sae‐Il Murtada, Ethan R. Lester +6 more

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

Annual Review of Pathology Mechanisms of Disease(2023)10.1146/annurev-pathmechdis-051222-121126

N/A

0DataRank · unranked

36 citations

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

Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107528

N/A

0DataRank · unranked

13 citations

Karen M. Kloke, Rubén Bonilla Guerrero, Carlos R. Ferreira, Nenad Blau, Denise Salazar

Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107690

N/A

0DataRank · unranked

11 citations

Nenad Blau, Carlos R. Ferreira, Phillip L. Pearl, Itay Tokatly Latzer

EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM

Retinal Cases & Brief Reports(2023)10.1097/icb.0000000000001425

N/A

0DataRank · unranked

2 citations

Henry E. Wiley, Sunil Bellur, H. Nida Sen, Carlos R. Ferreira, Emily Y. Chew +2 more

Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107582

N/A

0DataRank · unranked

10 citations

Alessandra Cambi, Lilly M. Verhagen, Paola de Haas, Clara D.M. van Karnebeek, Nenad Blau +2 more

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

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107683

N/A

0DataRank · unranked

7 citations

Ulla T. Schultheiß, Carlos R. Ferreira, Nenad Blau, Anke Schumann

Identification of potential non-invasive biomarkers in diastrophic dysplasia

Bone(2023)10.1016/j.bone.2023.116838

N/A

0DataRank · unranked

4 citations

Ricki Carroll, Chiara Gramegna Tota, Andrea J. Schelhaas, Alessandra Leone, Angela L. Duker +14 more

Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107655

N/A

0DataRank · unranked

4 citations

Simona Basilicata, Melissa Borrelli, Carlos R. Ferreira, Nenad Blau, Francesca Santamaria +1 more

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

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107735

N/A

0DataRank · unranked

2 citations

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

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

N/A

0DataRank · unranked

24 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101104

N/A

0DataRank · unranked

13 citations

Maja Tarailo‐Graovac, René Leen, Rutger Meinsma, Solenne Correard, Judith Jansen-Meijer +38 more

Inherited phosphate and pyrophosphate disorders

The Journal of the American Dental Association(2024)10.1016/j.adaj.2024.05.016

N/A

0DataRank · unranked

13 citations

Alison M. Boyce, José Luís Millán, Kaitrin Kramer, Carlos R. Ferreira, Martha J. Somerman +2 more

Quantitative correlation of ENPP1 pathogenic variants with disease phenotype

Bone(2024)10.1016/j.bone.2024.117136

N/A

0DataRank · unranked

7 citations

Paul R. Stabach, Carla Ciccone, Wenxiang Cao, Enrique M. De La Cruz, Yves Sabbagh +4 more

Ocular findings in Jansen metaphyseal chondrodysplasia

JBMR Plus(2024)10.1093/jbmrpl/ziae089

N/A

0DataRank · unranked

2 citations

M Teresa Magone De Quadros Costa, Laryssa A. Huryn, Kristen S. Pan, Konstantinia Almpani, Anisha Ninan +8 more

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

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109001

N/A

0DataRank · unranked

1 citations

Sofia Saenz-Ayala, Erin T. Strovel, Francis Rossignol, Carlos R. Ferreira, Nenad Blau +1 more

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

JBMR Plus(2024)10.1093/jbmrpl/ziae156

N/A

0DataRank · unranked

0 citations

Konstantinia Almpani, Hung Jeffrey Kim, Christopher Zalewski, Emily Y. Chu, Golnar Jahanmir +11 more

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

JBMR Plus(2025)10.1093/jbmrpl/ziaf019

N/A

0DataRank · unranked

5 citations

Mary E. Hackbarth, Yvonne Nitschke, Ulrike Botschen, Rachel I. Gafni, M. Zulf Mughal +9 more

New Phenotypic Features in FGFR1‐Related Osteoglophonic Dysplasia

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64092

N/A

0DataRank · unranked

2 citations

Holly E. Babcock, Corey S. Gill, Jamie L. Fraser, Debra S. Regier, Rajdeep Kaur +3 more

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70042

N/A

0DataRank · unranked

2 citations

Vibha Chandrasekar, Irene J. Castillo, Dat Duong, Carlos R. Ferreira, Suzanna Ledgister Hanchard +6 more

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

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109251

N/A

0DataRank · unranked

0 citations

Kristen S. Pan, Monique B. Perry, Joy Bryant, Kevin O’Brien, Irene J. Castillo +7 more

Disruption of the FGFR1-FGF23-Phosphate Axis and Targeted Therapy in a Murine Model of Osteoglophonic Dysplasia

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.11.14.680268

N/A

0DataRank · unranked

0 citations

Rajdeep Kaur, Arwaa Mehran, Cecilia Rivas, Rebeca Galisteo, Irene Ginty +12 more

An international classification of inherited metabolic disorders (ICIMD)

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12348

N/A

0DataRank · unranked

340 citations

Shamima Rahman, Markus A. Keller, Johannes Zschocke, ICIMD Advisory Group, Carlos R. Ferreira

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

Journal of Bone and Mineral Research(2025)10.1093/jbmr/zjaf183

N/A

0DataRank · unranked

0 citations

Hannah McCurry, Amanda Girod, Madeline Hughes, Emma H. Wilcox, Mayher Patel +23 more

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Genetics in Medicine(2020)10.1038/s41436-020-00983-0

N/A

0DataRank · unranked

90 citations

Mary E. Hackbarth, Shira G. Ziegler, Kristen S. Pan, Mary Scott Roberts, Douglas R. Rosing +18 more

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12286

N/A

0DataRank · unranked

66 citations

Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Čechová +31 more

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

Molecular Genetics and Metabolism Reports(2020)10.1016/j.ymgmr.2020.100602

N/A

0DataRank · unranked

47 citations

Carlos R. Ferreira, Lung S. Yam, Stephen G. Kaler

Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia

Journal of Bone and Mineral Research(2020)10.1002/jbmr.4702

N/A

0DataRank · unranked

37 citations

Rachel I. Gafni, Kelly L. Roszko, Sydney M Brown, Luis F de Castro, Amanda Saikali +9 more

Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models

Journal of Bone and Mineral Research(2020)10.1002/jbmr.4487

N/A

0DataRank · unranked

23 citations

Anenya J. Ansh, Catherine Nester, Christine O’Brien, Paul R. Stabach, Sae‐Il Murtada +6 more

Nephropathic Cystinosis: A Distinct Form of CKD–Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23

Journal of the American Society of Nephrology(2020)10.1681/asn.2019111172

N/A

0DataRank · unranked

22 citations

Macarena Jiménez, Carlos R. Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella +11 more

Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in Medicine(2020)10.1038/s41436-019-0737-1

N/A

0DataRank · unranked

21 citations

Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson +26 more

Carlos R. Ferreira

Indexed papers

Top data-sharing exemplar

Papers