Carlos E. Prada

Also affiliated with Lurie Children's Hospital, Lurie Children's Hospital, Robert H. Lurie Comprehensive Cancer Center of Northwestern University

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 20 papers. Top paper: “Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms”.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Neuron(2020)10.1016/j.neuron.2020.02.021

N/A

0DataRank · unranked

165 citations

Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo +29 more

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018

N/A

0DataRank · unranked

93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31859

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0DataRank · unranked

14 citations

Esperanza Mendoza, Maria Gomez Peña, C. Alexander Valencia, Ehsan Ullah, Robert B. Hufnagel +2 more

Ophthalmic genetics in South America

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31832

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0DataRank · unranked

8 citations

René Moya, Patricio G. Schlottmann, Robert B. Hufnagel, Claudia Arberas, Federico Fernández +6 more

Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61782

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0DataRank · unranked

2 citations

Ehsan Ullah, Ángela M Martin, Robert B. Hufnagel, Carlos E. Prada, Harvy Velasco

POLRMT mutations impair mitochondrial transcription causing neurological disease

Nature Communications(2021)10.1038/s41467-021-21279-0

N/A

0DataRank · unranked

60 citations

Bradley Peter, Zsolt Szilágyi, Héctor Díaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville +34 more

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Genetics in Medicine(2021)10.1038/s41436-021-01182-1

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0DataRank · unranked

19 citations

Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble +22 more

A role for sustained MAPK activity in the mouse ventral telencephalon

Developmental Biology(2021)10.1016/j.ydbio.2021.03.019

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0DataRank · unranked

17 citations

Diana Nardini, Shenyue Qin, Carlos E. Prada, Lisa A. Ehrman, Ronald R. Waclaw +1 more

Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon

Frontiers in Cell and Developmental Biology(2021)10.3389/fcell.2021.673995

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0DataRank · unranked

2 citations

Diana Nardini, Nisha Shabbir, Lisa A. Ehrman, Carlos E. Prada, Ronald R. Waclaw +1 more

Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100115

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0DataRank · unranked

5 citations

Padmapriyadarshini Ravisankar, Manu Beerens, Lejla Mulahasanovic, Kelly Smallwood, Marion Bermúdez Sasso +9 more

Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis

medRxiv(2022)10.1101/2022.02.15.22269076

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0DataRank · unranked

3 citations

Yang Shen, Destino Roman, Hongzhi He, Carolyn R. Serbinski, Lindsey Aschbacher‐Smith +9 more

Motor Function and Physiology in Youth With Neurofibromatosis Type 1

Pediatric Neurology(2023)10.1016/j.pediatrneurol.2023.02.014

N/A

0DataRank · unranked

10 citations

David A. Huddleston, Paul S. Horn, Nancy Ratner, Brittany Simpson, Elizabeth K. Schorry +4 more

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63477

N/A

0DataRank · unranked

7 citations

Anton M. Bennett, Lisa Schoyer, Beth Stronach, April Anschutz, Sarah C. Borrie +39 more

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63397

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0DataRank · unranked

4 citations

April Vanderwal, Sarah E. Chadwell, A.I. Sánchez, Robert J. Hopkin, Robert B. Hufnagel +3 more

Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle

American Journal of Transplantation(2023)10.1016/j.ajt.2023.02.027

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0DataRank · unranked

1 citations

Kathleen Campbell, Carlos E. Prada, Anna L. Peters, Milad Rezvani

Case report: Childhood erythrocytosis due to hypermanganesemia caused by homozygous SLC30A10 mutation

Frontiers in Hematology(2024)10.3389/frhem.2024.1331485

N/A

0DataRank · unranked

4 citations

Hannah Q. Hughes, Paul T. Finch, Joshua A. Hess, Steve W. Wu, Carlos E. Prada +4 more

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2024)10.1002/ajmg.c.32095

N/A

0DataRank · unranked

3 citations

Andrea Patete, Lindsey Aschbacher‐Smith, Dima Qu’d, Geraldine Kelly‐Mancuso, Carolyn R. Raski +15 more

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100333

N/A

0DataRank · unranked

3 citations

Yang Shen, Carolyn R. Serbinski, Hongzhi He, Destino Roman, Mehari Endale +10 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

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0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Sacroiliac Joint Involvement: An Underreported Complication of NF1

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64238

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0DataRank · unranked

0 citations

Eva Dombi, Jonathan D. Samet, María Paula Silva Sánchez, Carolyn R. Raski, Michael Sawin +2 more