Camilo Toro

Also affiliated with National Human Genome Research Institute, Office of the Director

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 51 papers. Top paper: “Gene expression changes in Tay–Sachs disease begin early in fetal brain development”.

Gene expression changes in Tay–Sachs disease begin early in fetal brain development

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12596

N/A

0.440DataRank · unranked

10 citations

Ashley Hirt, Elena‐Raluca Nicoli, Mari Kono, Camilo Toro, Richard L. Proia +2 more

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

UNC Libraries(2020)10.17615/g610-9d13

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0DataRank · unranked

47 citations

Qing Zhou, Deborah L. Stone, Geryl Wood, James C. Mullikin, Nicholas J. Patronas +27 more

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.09.008

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0DataRank · unranked

12 citations

Jennifer Wang, Daron L. Ross, Nicholas Balanda, Yan Huang, Rena A. Godfrey +6 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

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0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

PLoS Genetics(2020)10.1371/journal.pgen.1008841

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0DataRank · unranked

22 citations

Aurélie Clément, Sarah J. Stednitz, Jennifer Kyle, Judy Peirce, Marcie McFadden +18 more

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61542

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0DataRank · unranked

8 citations

Kyle E. Reichard, Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley +7 more

Neurological manifestations of Erdheim–Chester Disease

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51014

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0DataRank · unranked

45 citations

Kevin O’Brien, Neval Özkaya, Tanya Lehky, Avner Meoded, Bernadette R. Gochuico +7 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

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0DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

Facial Onset Sensory and Motor Neuronopathy

Neurology Clinical Practice(2020)10.1212/cpj.0000000000000834

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31 citations

Andrew W. Barritt, Marwa Elamin, Stuart Anderson, Rebecca Broad, Angus Nisbet +22 more

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Journal of Clinical Medicine(2020)10.3390/jcm9030695

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0DataRank · unranked

28 citations

Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Jaclyn Cadaoas, Vish Koppaka +10 more

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

Neuroscience Letters(2021)10.1016/j.neulet.2021.136195

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0DataRank · unranked

59 citations

Mosufa Zainab, Cynthia J. Tifft, Camilo Toro

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

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0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 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

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28 citations

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

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Human Genetics(2021)10.1007/s00439-021-02379-9

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0DataRank · unranked

28 citations

Brenda J. Barry, Caroline D. Robson, Flavia M. Facio, Carol Van Ryzin, Wai‐Man Chan +31 more

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Neurology Genetics(2021)10.1212/nxg.0000000000000606

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0DataRank · unranked

3 citations

Thomas C. Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William A. Gahl +2 more

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

Frontiers in Immunology(2022)10.3389/fimmu.2021.811473

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0DataRank · unranked

89 citations

Ivona Aksentijevich, Natalie Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird +26 more

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

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0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

MYH2-associated myopathy caused by a novel splice-site variant

Neuromuscular Disorders(2022)10.1016/j.nmd.2022.12.014

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0DataRank · unranked

8 citations

May Christine V. Malicdan, Ellen F. Macnamara, Tanya Lehky, Iren Horkayne‐Szakaly, Yan Huang +6 more

Myoclonus generators in sialidosis

Clinical Neurophysiology Practice(2022)10.1016/j.cnp.2022.05.004

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0DataRank · unranked

8 citations

Patrick Mcgurrin, Sanaz Attaripour, Alesandra d'Azzo, Cynthia J. Tifft, Camilo Toro +2 more

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63045

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0DataRank · unranked

6 citations

Wadih M. Zein, Robert B. Hufnagel, Christine W. Ku, Rena A. Godfrey, Lynne A. Wolfe +4 more

Risk Factors and Neurological Outcomes Associated With Circulatory Shock After Moderate–Severe Traumatic Brain Injury: A TRACK-TBI Study

Neurosurgery(2022)10.1227/neu.0000000000002042

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0DataRank · unranked

9 citations

Jordan Hatfield, Nancy Temkin, Jason Barber, Geoffrey T. Manley, Tetsu Ohnuma +14 more

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.31966

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0DataRank · unranked

4 citations

Melissa A. Parisi, Burak Altintas, May Christine V. Malicdan, Thierry Vilboux, Jasmine Knoll +6 more

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

Brain(2022)10.1093/brain/awac357

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0DataRank · unranked

3 citations

Thomas B. Nutman, Tory P. Johnson, Scott F. Dowell, James J. Sejvar, Michael R. Wilson +28 more

Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I

Journal of Translational Genetics and Genomics(2022)10.20517/jtgg.2021.63

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0DataRank · unranked

1 citations

Elizabeth A. Burke, David R. Adams, Colleen A. Evans, Dorothy Bulas, Stuart Weinerman +7 more

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

Frontiers in Endocrinology(2023)10.3389/fendo.2023.1166076

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0DataRank · unranked

23 citations

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

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Journal of Medical Genetics(2023)10.1136/jmg-2023-109420

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0DataRank · unranked

22 citations

Elena‐Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra‐Vinardell, Prashant Sharma +12 more

Adult-onset neurodegeneration in XMEN disease

Journal of Neuroimmunology(2023)10.1016/j.jneuroim.2023.578251

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0DataRank · unranked

4 citations

Anusha Ebrahim, Juan C. Ravell, Michael J. Lenardo, William A. Gahl, Camilo Toro +1 more

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107707

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0DataRank · unranked

1 citations

Amelia J. Loydpierson, Yvonne L. Latour, Precilla D’Souza, Jennifer L. Murphy, Lynne A. Wolfe +14 more

Genomic Diagnoses for Ectopic Intracerebral Calcifications

Neurology Genetics(2023)10.1212/nxg.0000000000200083

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0DataRank · unranked

1 citations

Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David R. Adams, Camilo Toro +1 more

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome

Research Square(2023)10.21203/rs.3.rs-3462973/v1

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0DataRank · unranked

7 citations

Veronica H. Ryan, James Hawrot, Sydney Lawton, Daniel M. Ramos, Yue Qi +16 more

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.08.03.551473

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0DataRank · unranked

2 citations

Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman +28 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

An ANXA11 P93S variant dysregulates TDP‐43 and causes corticobasal syndrome

Alzheimer s & Dementia(2024)10.1002/alz.13915

N/A

0DataRank · unranked

18 citations

Veronica H. Ryan, James Hawrot, Sydney Lawton, Daniel M. Ramos, Yue Qi +16 more

Chedíak-Higashi Syndrome: Hair-to-toe spectrum

Seminars in Pediatric Neurology(2024)10.1016/j.spen.2024.101168

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0DataRank · unranked

10 citations

Ariane Soldatos, Camilo Toro, Wadih M. Zein, Joseph Snow, Tanya Lehky +3 more

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108512

N/A

0DataRank · unranked

9 citations

Camille Rochmann, Pascal Minini, Florian Eichler, Christopher D. Stephen, Heather Lau +6 more

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.29.577876

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0DataRank · unranked

2 citations

Jaemin Kim, Yogesh K. Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong +17 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

Nature Communications(2025)10.1038/s41467-025-56378-9

N/A

0DataRank · unranked

7 citations

Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman +28 more

Organ Donation for Research Biobanking Among Historically Marginalized Racial and Ethnic Groups

JAMA Network Open(2025)10.1001/jamanetworkopen.2025.12133

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0DataRank · unranked

4 citations

Oseiwe Eromosele, David Flynn, Andrew A. Wilson, Darrell N. Kotton, Timothy M. Hughes +7 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33047

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0DataRank · unranked

1 citations

Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski +15 more

Rehabilitation of High-Level Dynamic Balance Skills in an Individual With Significant Nonprogressive Cerebellar Atrophy: Case Report

Archives of Rehabilitation Research and Clinical Translation(2025)10.1016/j.arrct.2025.100500

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0DataRank · unranked

1 citations

Joseph A Shader, Pashtun Shahim, Simge Yonter, Camilo Toro, Cris Zampieri +1 more

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases

Journal of Neurology(2025)10.1007/s00415-025-13091-3

N/A

0DataRank · unranked

4 citations

Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft +1 more

Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G

Alzheimer s & Dementia(2025)10.1002/alz.70427

N/A

0DataRank · unranked

3 citations

John Papatriantafyllou, Kengo Maeda, Geoffrey K. Aguirre, Masahiro Ando, Bernice Benoit +16 more

Statin Use and Cardiovascular Risk in Young Adults in the United States

American Journal of Preventive Medicine(2025)10.1016/j.amepre.2025.02.001

N/A

0DataRank · unranked

1 citations

John Stone, Alan Manivannan, Alejandro Segarra-Concepcion, Grace Ferri, Rohan Ganti +6 more

Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype

medRxiv(2025)10.1101/2025.04.08.25325262

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0DataRank · unranked

1 citations

Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Cynthia J. Tifft, Camilo Toro +1 more

Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases

medRxiv(2025)10.1101/2025.08.05.25333048

N/A

0DataRank · unranked

1 citations

Leila Shirvan, Jean M. Johnston, Catherine Groden, John Yang, Andrea Ashton +13 more

BK channel activity in skin fibroblasts from patients with neurological disorder

Channels(2025)10.1080/19336950.2025.2542811

N/A

0DataRank · unranked

0 citations

Thomas R. Middendorf, Deborah DiSilvestre, David R. Adams, William A. Gahl, Ellen F. Macnamara +5 more

Diffusion tensor imaging in Chediak Higashi Disease

medRxiv(2025)10.1101/2025.08.06.25332949

N/A

0DataRank · unranked

0 citations

Selby I. Chipman, Cynthia J. Tifft, Camilo Toro, William A. Gahl, Maria T. Acosta +2 more

Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau

Science(2020)10.1126/science.aay8826

N/A

0DataRank · unranked

146 citations

Jessica M. Phan, Boram Kim, Eunran Suh, John Papatriantafyllou, Lakshmi Changolkar +17 more

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases

Rare(2025)10.1016/j.rare.2025.100112

N/A

0DataRank · unranked

0 citations

Yuka Aoyama, Rena A. Godfrey, Colleen Evans Howe, Joshi Stephen, May Christine V. Malicdan +3 more