Charlotte J. Sumner

Also affiliated with Johns Hopkins Medicine

MedicineBiochemistry, Genetics and Molecular BiologyNeuroscience

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 26 papers. Top paper: “Intrathecal Gene Therapy for Giant Axonal Neuropathy”.

Intrathecal Gene Therapy for Giant Axonal Neuropathy

New England Journal of Medicine(2024)10.1056/nejmoa2307952

N/A

1.4DataRank · unranked

59 citations

Joshua J. Todd, Dimah Saade, Gina Norato, Minal Jain, Tanya Lehky +24 more

Multiubiquitination of TRPV4 reduces channel activity independent of surface localization

Journal of Biological Chemistry(2022)10.1016/j.jbc.2022.101826

N/A

0.546DataRank · unranked

17 citations

Brett A. McCray, Jeremy M. Sullivan, Erika Diehl, Lauren DeVine, Jonathan Alevy +8 more

Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy

Prenatal Diagnosis(2022)10.1002/pd.6228

N/A

0.464DataRank · unranked

21 citations

Shirley Shao, Li Zhang, Billie R. Lianoglou, Lisa Belter, Jill Jarecki +4 more

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants

Brain(2025)10.1093/brain/awaf219

N/A

0.208DataRank · unranked

3 citations

Christopher P. Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A. Peterson, Davide Pareyson +47 more

Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy

Annual Review of Medicine(2021)10.1146/annurev-med-070119-115459

N/A

0DataRank · unranked

36 citations

Michelle H. Chan-Cortés, Charlotte J. Sumner, Bhavya Ravi

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Journal of Neurology Neurosurgery & Psychiatry(2021)10.1136/jnnp-2020-325437

N/A

0DataRank · unranked

22 citations

Nathan Sarkar, Joyce Lu, Mallory Owen, Alice B. Schindler, Peter A. Calabresi +13 more

Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets

Gene Therapy(2021)10.1038/s41434-021-00305-2

N/A

0DataRank · unranked

11 citations

Christopher G. Wier, Jessica Russo, Lingling Kong, Patrick L. Heilman, Anthony Reynolds +9 more

Crosstalk between regulatory elements in the disordered TRPV4 N-terminus modulates lipid-dependent channel activity

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.21.521430

N/A

0DataRank · unranked

6 citations

Christoph Wiedemann, Brett A. McCray, Stefan L. Schäfer, Jasmin Jansen, Frederike Tebbe +10 more

TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease

Nature Communications(2023)10.1038/s41467-023-39345-0

N/A

0DataRank · unranked

78 citations

Feng Zhang, Brett A. McCray, Shasha Feng, Meha Kumar, Jeremy M. Sullivan +4 more

Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity

Nature Communications(2023)10.1038/s41467-023-39808-4

N/A

0DataRank · unranked

48 citations

Christoph Wiedemann, Brett A. McCray, Stefan L. Schäfer, Jasmin Jansen, Frederike Tebbe +11 more

Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation

Acta Neuropathologica Communications(2023)10.1186/s40478-023-01551-8

N/A

0DataRank · unranked

13 citations

Cera W. Hassinan, Florian Gerstner, Jannik M. Buettner, Jeffrey B. Petigrow, David Valdivia +11 more

Structural insights into TRPV4-Rho GTPase signaling complex function and disease

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.15.532784

N/A

0DataRank · unranked

3 citations

Feng Zhang, Brett A. McCray, Meha Kumar, Jeremy M. Sullivan, Charlotte J. Sumner +2 more

Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice

Science Translational Medicine(2024)10.1126/scitranslmed.adk1358

N/A

0DataRank · unranked

26 citations

Anna M. Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C. Saavedra-Rivera +12 more

Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus

Molecular Therapy — Methods & Clinical Development(2024)10.1016/j.omtm.2024.101263

N/A

0DataRank · unranked

17 citations

Antonia Varthaliti, Marisa Schwab, Maria T. Clarke, Christopher D. Pivetti, Nalin Gupta +12 more

Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52213

N/A

0DataRank · unranked

11 citations

Aparna Ajjarapu, Divya Ramachandra, Laura Campello Blasco, Mar Costa‐Roger, Eduardo F. Tizzano +3 more

A reassessment of spinal cord pathology in severe infantile spinal muscular atrophy

Neuropathology and Applied Neurobiology(2024)10.1111/nan.13013

N/A

0DataRank · unranked

7 citations

Ben Lawrence, Thomas O. Crawford, Charlotte J. Sumner, Simon H. Parson, Hazel Allardyce

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

Brain(2024)10.1093/brain/awae201

N/A

0DataRank · unranked

6 citations

Jack K. Donohue, Maya Hoke, Simone Thomas, Margo A. Peyton, Linh K. Vo +30 more

Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants

Brain(2024)10.1093/brain/awae243

N/A

0DataRank · unranked

7 citations

Linh K. Vo, Do Hoon Kwon, Tiffany Grider, Yasmine S Damayanti, Gage P Kosmanopoulos +17 more

In utero genetic therapy: Treatment of early onset neurological disorders before they start

Molecular Therapy(2025)10.1016/j.ymthe.2025.06.012

N/A

0DataRank · unranked

6 citations

Stephen M. Brown, Tippi C. MacKenzie, Charlotte J. Sumner, Beltran Borges

Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy

Research Square(2025)10.21203/rs.3.rs-6819992/v1

N/A

0DataRank · unranked

0 citations

Florian Gerstner, Sandra Wittig, Christian Menedo, Sayan Ruwald, María J. Carlini +15 more

Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients

ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam)(2025)10.21203/rs.3.rs-8085055/v1

N/A

0DataRank · unranked

0 citations

Heather Lanz, Benjamin Lawrence, Thomas O. Crawford, Charlotte J. Sumner, Simon H. Parson +1 more

TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+

Nature Communications(2020)10.1038/s41467-020-16411-5

N/A

0DataRank · unranked

71 citations

Brett A. McCray, Hyun Sung, Masashi Tabuchi, Jeremy M. Sullivan, Kendra Takle Ruppell +12 more

Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations

Journal of Biological Chemistry(2025)10.1016/j.jbc.2025.110991

N/A

0DataRank · unranked

0 citations

Gage P Kosmanopoulos, William H. Aisenberg, Eric Cox, Alexis R. Meeker, Seth Blackshaw +6 more

The nonselective cation channel TRPV4 inhibits angiotensin II receptors

Journal of Biological Chemistry(2020)10.1074/jbc.ra120.014325

N/A

0DataRank · unranked

27 citations

Charlotte J. Sumner, Solomon H. Snyder, Nicholas W. Zaccor

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Journal of Clinical Investigation(2020)10.1172/jci128152

N/A

0DataRank · unranked

24 citations

William W. Motley, Janel O. Johnson, William H. Aisenberg, Katherine Marshall, Katy Barwick +16 more

Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension

Nature Communications(2021)10.1038/s41467-021-21699-y

N/A

0DataRank · unranked

58 citations

Erika Diehl, Jeremy M. Sullivan, William H. Aisenberg, Nicholas W. Zaccor, Alexander R. Lau +6 more