Fábio R. Faucz

MedicineBiochemistry, Genetics and Molecular Biology

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 6%percentile

0.291Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas

Endocrine Related Cancer(2020)10.1530/erc-19-0517

Top 56%

0.291DataRank

Top 56%4 citations

Ahmed Hamimi, Fábio R. Faucz, Genya Aharon‐Hananel, Phaedon D. Zavras, Belén Bonella +7 more

Papers

Driven by 52 papers — median percentile 44. Top paper: “Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype”.

Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype

The Journal of Clinical Endocrinology & Metabolism(2020)10.1210/clinem/dgaa160

N/A

1.4DataRank · unranked

47 citations

Nathan Pankratz, John Lane, Fábio R. Faucz, Margaret F. Keil, Prashant Chittiboina +6 more

Genetic drivers of Cushing’s disease: Frequency and associated phenotypes

Genetics in Medicine(2022)10.1016/j.gim.2022.08.021

N/A

0.576DataRank · unranked

14 citations

Nathan Pankratz, John Lane, Fábio R. Faucz, Prashant Chittiboina, Denise M. Kay +4 more

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Frontiers in Endocrinology(2020)10.3389/fendo.2020.00433

N/A

0.539DataRank · unranked

13 citations

Laura C. Hernández‐Ramírez, Nancy Portillo, Ana L. Gómez-Gila, Inés Urrutia, Rosa Martı́nez +16 more

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

Frontiers in Endocrinology(2023)10.3389/fendo.2023.1166076

N/A

0.477DataRank · unranked

23 citations

Adrian Daly, Laura C. Hernández‐Ramírez, Elisa Araldi, Christina Tatsi, Ryan Dale +25 more

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A

Endocrine Related Cancer(2020)10.1530/erc-20-0309

N/A

0.449DataRank · unranked

19 citations

Ludivine Drougat, Nikolaos Settas, Sara Haydar, Kerstin Bathon, Edra London +8 more

The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans

The Journal of Clinical Endocrinology & Metabolism(2020)10.1210/clinem/dgaa290

N/A

0.396DataRank · unranked

13 citations

Xiaofei Zhou, Mihail Zilbermint, Constantine A. Stratakis, Fábio R. Faucz, Maya Lodish +6 more

Paediatric Cushing syndrome: a prospective cohort study

The Lancet Child & Adolescent Health(2023)10.1016/s2352-4642(23)00264-x

N/A

0.373DataRank · unranked

11 citations

Crystal Kamilaris, Meg Keil, Lola Saidkhodjaeva, Fábio R. Faucz, Prashant Chittiboina +2 more

A SOX5 gene variant as a possible contributor to short stature

Endocrinology Diabetes and Metabolism Case Reports(2020)10.1530/edm-20-0133

N/A

0.312DataRank · unranked

7 citations

Christina Tatsi, Stephanie J. DeWard, Bethany Friedman, Fábio R. Faucz, Constantine A. Stratakis +1 more

Protein kinase A drives paracrine crisis and WNT4-dependent testis tumor in Carney complex

Journal of Clinical Investigation(2021)10.1172/jci146910

N/A

0.312DataRank · unranked

7 citations

Isabelle Sahut-Barnola, Amandine Septier, Ingrid Plotton, Nathanaëlle Montanier, Damien Dufour +16 more

Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas

Endocrine Related Cancer(2020)10.1530/erc-19-0517

Top 56%

0.291DataRank

Top 56%4 citations

Ahmed Hamimi, Fábio R. Faucz, Genya Aharon‐Hananel, Phaedon D. Zavras, Belén Bonella +7 more

Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors

Endocrine Related Cancer(2023)10.1530/erc-23-0067

N/A

0.269DataRank · unranked

5 citations

Anélia Horvath, Guillaume Assié, Madson Q. Almeida, Eva Szarek, Sosipatros A. Boikos +11 more

Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia

Endocrinology Diabetes and Metabolism Case Reports(2020)10.1530/edm-20-0006

N/A

0.269DataRank · unranked

5 citations

Crystal Kamilaris, Naris Nilubol, Samira M. Sadowski, Annabel Berthon, Martha Quezado +4 more

Homozygous SHBG Variant (rs6258) Linked to Gonadotropin-Independent Precocious Puberty in a Young Girl

Journal of the Endocrine Society(2021)10.1210/jendso/bvab125

N/A

0.241DataRank · unranked

4 citations

Marissa Lightbourne, Chelsi Flippo, Fábio R. Faucz, Angela Delaney, Fady Hannah‐Shmouni +3 more

Insulin-like growth factor 2 (IGF2) expression in adrenocortical disease due to PRKAR1A mutations compared to other benign adrenal tumors

Endocrine(2021)10.1007/s12020-020-02583-z

N/A

0.205DataRank · unranked

2 citations

Annabel Berthon, Madson Q. Almeida, Isaac Lévy, Fábio R. Faucz, Constantine A. Stratakis +1 more

Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X

Genes(2023)10.3390/genes14020265

N/A

0.165DataRank · unranked

2 citations

Kiet Zhou, Megan Parker, Fábio R. Faucz, Deborah P. Merke, Qizong Lao

High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities

Frontiers in Endocrinology(2023)10.3389/fendo.2023.1272939

N/A

0.165DataRank · unranked

2 citations

Ninet Sinaii, Fábio R. Faucz, James Iben, Steven L. Coon, Sonia Caprio +4 more

Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia

Endocrine Related Cancer(2020)10.1530/erc-20-0102

N/A

0DataRank · unranked

23 citations

Annabel Berthon, Fábio R. Faucz, Juan Medina Briceno, Andréa Gutierrez Maria, Andrew P. Demidowich +9 more

ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1)

The Journal of Clinical Endocrinology & Metabolism(2020)10.1210/clinem/dgaa631

N/A

0DataRank · unranked

9 citations

Jadranka Antić, Valentina Elezović-Kovačević, Duško Dundjerović, Ivana Milicevic, Bojana Beleslin‐Čokić +7 more

ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing’s syndrome

Endocrine Related Cancer(2020)10.1530/erc-20-0273

N/A

0DataRank · unranked

9 citations

Christina Tatsi, Annabel Berthon, Ludivine Drougat, Nikolaos Settas, Fady Hannah‐Shmouni +4 more

c-KIT oncogene expression in PRKAR1A-mutant adrenal cortex

Endocrine Related Cancer(2020)10.1530/erc-20-0270

N/A

0DataRank · unranked

1 citations

Fábio R. Faucz, Constantine A. Stratakis, Kiran S. Nadella

Letter to the Editor: “IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction”

The Journal of Clinical Endocrinology & Metabolism(2020)10.1210/clinem/dgaa146

N/A

0DataRank · unranked

0 citations

Giampaolo Trivellin, Constantine A. Stratakis, Fábio R. Faucz

Inhibition of Aurora kinase A activity enhances the antitumor response of beta-catenin blockade in human adrenocortical cancer cells

Molecular and Cellular Endocrinology(2021)10.1016/j.mce.2021.111243

N/A

0DataRank · unranked

14 citations

Kleiton Silva Borges, Régia Caroline Peixoto Lira, Carolina Hassib Thomé, Annabel Berthon, Ludivine Drougat +7 more

First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome

Journal of the Endocrine Society(2021)10.1210/jendso/bvab007

N/A

0DataRank · unranked

9 citations

Fábio R. Faucz, Victoria C. Andriessen, Naris Nilubol, Chyi‐Chia Richard Lee, Mark A. Ahlman +3 more

Is there a common cause for paediatric Cushing’s disease?

Endokrynologia Polska(2021)10.5603/ep.a2020.0073

N/A

0DataRank · unranked

7 citations

Fábio R. Faucz, Constantine A. Stratakis, Elżbieta Moszczyńska, Marcin Roszkowski, Wiesława Grajkowska +3 more

A phosphodiesterase 11 (Pde11a) knockout mouse expressed functional but reduced Pde11a: Phenotype and impact on adrenocortical function

Molecular and Cellular Endocrinology(2020)10.1016/j.mce.2020.111071

N/A

0DataRank · unranked

9 citations

Eva Szarek, Andréa Gutierrez Maria, Matthew Starrost, Maria De La Luz Sierra, Fábio R. Faucz +2 more

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1556

N/A

0DataRank · unranked

16 citations

Ashwini Mallappa, Fábio R. Faucz, Elizabeth Joyal, Padmasree Veeraraghavan, Wuyan Chen +2 more

Steroid hormone analysis of adolescents and young women with polycystic ovarian syndrome and adrenocortical dysfunction using UPC2-MS/MS

Pediatric Research(2020)10.1038/s41390-020-0870-1

N/A

0DataRank · unranked

21 citations

Therina du Toit, Evgenia Gourgari, Martin Kidd, Meg Keil, Fábio R. Faucz +2 more

Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.002

N/A

0DataRank · unranked

45 citations

Adrian Daly, Léonor Palmeira, Amit Tirosh, Antonio Stigliano, Eszter Trifan +11 more

The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish

Molecular and Cellular Endocrinology(2020)10.1016/j.mce.2020.111091

N/A

0DataRank · unranked

14 citations

Amit Tirosh, Laura C. Hernández‐Ramírez, Tripti Gupta, Chon‐Hwa Tsai‐Morris, Fábio R. Faucz +4 more

USP13 genetics and expression in a family with thyroid cancer

Endocrine(2022)10.1007/s12020-022-03068-x

N/A

0DataRank · unranked

7 citations

Bruna Azevedo, Nikolaos Settas, Fady Hannah‐Shmouni, Constantine A. Stratakis, Fábio R. Faucz +1 more

Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas

Current Cardiology Reports(2022)10.1007/s11886-022-01735-z

N/A

0DataRank · unranked

7 citations

Fábio R. Faucz, Constantine A. Stratakis, Fady Hannah‐Shmouni, Georgia Pitsava

Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis

Nature Communications(2023)10.1038/s41467-023-41349-9

N/A

0DataRank · unranked

39 citations

Resmi Raju, Daniela M Roth, Emma Wentworth Winchester, Parna Chattaraj, Fahad Kidwai +10 more

Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia

Journal of the Endocrine Society(2020)10.1210/jendso/bvaa162

N/A

0DataRank · unranked

19 citations

Amit Tirosh, Crystal Kamilaris, Jancarlos Camacho, Fábio R. Faucz, Andréa Gutierrez Maria +13 more

Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism

Endocrine Related Cancer(2020)10.1530/erc-20-0384

N/A

0DataRank · unranked

20 citations

Andréa Gutierrez Maria, Fábio R. Faucz, Edra London, Leticia A P Vilela, Lucas Santos de Santana +19 more

Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

Genetics in Medicine(2020)10.1038/s41436-020-00958-1

N/A

0DataRank · unranked

20 citations

Nikolaos Settas, Cristina L. Ronchi, Kerstin Bathon, Davide Calebiro, Andréa Gutierrez Maria +6 more

Exploratory Study of the Association of Genetic Factors With Recovery of Adrenal Function in Cushing Disease

Journal of the Endocrine Society(2023)10.1210/jendso/bvad046

N/A

0DataRank · unranked

1 citations

Wei Zhang, Nathan Pankratz, John Lane, Prashant Chitiboina, Fábio R. Faucz +4 more

miRNA Expression Profiles of Mouse Round Spermatids in GRTH/DDX25-Mediated Spermiogenesis: mRNA–miRNA Network Analysis

Cells(2023)10.3390/cells12050756

N/A

0DataRank · unranked

5 citations

Raghuveer Kavarthapu, Ryan Dale, Kiersten Campbell, Fábio R. Faucz, Maria Dufau +1 more

Integrated spatiotemporal transcriptomic resolution of embryonic palate osteogenesis

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.30.534875

N/A

0DataRank · unranked

1 citations

Resmi Raju, Daniela M Roth, Parna Chattaraj, Fahad Kidwai, Fábio R. Faucz +8 more

Spatial Multiomics Reveal the Role of Wnt Modulator, Dkk2, in Palatogenesis

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.16.541037

N/A

0DataRank · unranked

1 citations

Resmi Raju, Daniela M Roth, Emma Wentworth Winchester, Cameron Padilla, James Iben +4 more

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

medRxiv(2023)10.1101/2023.01.20.23284646

N/A

0DataRank · unranked

0 citations

Adrian Daly, Laura C. Hernández‐Ramírez, Elisa Araldi, Christina Tatsi, Ryan Dale +25 more

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

Genome Medicine(2024)10.1186/s13073-024-01378-5

N/A

0DataRank · unranked

14 citations

Leslie Dunnington, David F. Rodriguez‐Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani +20 more

Spatial Multi-omics Reveals the Role of the Wnt Modulator, Dkk2, in Palatogenesis

Journal of Dental Research(2024)10.1177/00220345241256600

N/A

0DataRank · unranked

13 citations

Raghavan Raju, Daniela M Roth, Emma Wentworth Winchester, Cameron Padilla, James Iben +4 more

Profiles of Wnt pathway gene expression during tooth morphogenesis

Frontiers in Physiology(2024)10.3389/fphys.2023.1316635

N/A

0DataRank · unranked

11 citations

Jeremie D. Oliver, Daniela M Roth, Parna Chattaraj, Fahad Kidwai, Fábio R. Faucz +5 more

The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations

The Journal of Clinical Endocrinology & Metabolism(2024)10.1210/clinem/dgae253

N/A

0DataRank · unranked

9 citations

Georgia Pitsava, Fábio R. Faucz, Meg Keil, Constantine A. Stratakis, Christina Tatsi

Spatial Transcriptomic Analysis of Pituitary Corticotroph Tumors

Journal of the Endocrine Society(2024)10.1210/jendso/bvae064

N/A

0DataRank · unranked

4 citations

Fábio R. Faucz, Cameron Padilla, Charalampos S. Floudas, Prashant Chittiboina, Martha Quezado +2 more

Evidence of the Role of Inflammation and the Hormonal Environment in the Pathogenesis of Adrenal Myelolipomas in Congenital Adrenal Hyperplasia

International Journal of Molecular Sciences(2024)10.3390/ijms25052543

N/A

0DataRank · unranked

3 citations

Emily Frucci, Isabela Werneck da Cunha, James Iben, Sun A. Kim, Ashwini Mallappa +7 more

Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions

Stem Cell Research(2024)10.1016/j.scr.2024.103563

N/A

0DataRank · unranked

1 citations

Danielle O’Mard, Jizhong Zou, Christopher A. Wassif, Sandra Burkett, Michael Eckhaus +6 more

Tendon-associated gene expression precedes osteogenesis in mid-palatal suture establishment

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.05.11.590129

N/A

0DataRank · unranked

0 citations

Jeremie D. Oliver, Resmi Raju, James Iben, Fábio R. Faucz, Elena Makareeva +4 more

Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant of Gcm2

JBMR Plus(2025)10.1093/jbmrpl/ziaf147

N/A

0DataRank · unranked

0 citations

Jeremie D. Oliver, Fábio R. Faucz, James Iben, Wafa Abbas, Smita Jha +4 more

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion

Human Molecular Genetics(2020)10.1093/hmg/ddaa215

N/A

0DataRank · unranked

7 citations

Nikolaos Settas, Angela Delaney, Andreas Giannakou, Andrew P. Demidowich, Fábio R. Faucz +4 more

Preventing Cushing Syndrome: Adrenalectomy in PDE11A -Positive Primary Pigmented Nodular Adrenocortical Disease

JCEM Case Reports(2025)10.1210/jcemcr/luaf329

N/A

0DataRank · unranked

0 citations

Meredith LaRue, Anne M Lenz, Alejandra Kalik, Fábio R. Faucz, Constantine A. Stratakis +1 more

Telomere Length Changes in Children With Cushing Disease: A Pilot Study

Journal of the Endocrine Society(2020)10.1210/jendso/bvaa067

N/A

0DataRank · unranked

2 citations

Chelsi Flippo, Fábio R. Faucz, Ninet Sinaii, Constantine A. Stratakis, Christina Tatsi

Fábio R. Faucz

Indexed papers

Top data-sharing exemplar

Papers