Niamh X. Cawley

Also affiliated with Eunice Kennedy Shriver National Institute of Child Health and Human Development

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 14 papers. Top paper: “Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1”.

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Biomarker Research(2023)10.1186/s40364-023-00448-x

N/A

0.958DataRank · unranked

28 citations

Niamh X. Cawley, Rachel Luke, Katelin E. J. Scott, Nicholas L. Johnson, Nicole Y. Farhat +9 more

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108570

N/A

0.165DataRank · unranked

2 citations

Niamh X. Cawley, Samar Rahhal, Aishwarya Selvaraman, Audrey Thurm, Christopher A. Wassif +2 more

Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.10.009

N/A

0DataRank · unranked

7 citations

Julia C. Yerger, Mason Fellmeth, Jenny Serra‐Vinardell, Christopher A. Wassif, Niamh X. Cawley +2 more

Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.11.008

N/A

0DataRank · unranked

13 citations

Julia C. Yerger, Mason Fellmeth, Jenny Serra‐Vinardell, Fatemeh Navid, Christopher A. Wassif +3 more

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

Genetics in Medicine(2021)10.1038/s41436-021-01224-8

N/A

0DataRank · unranked

14 citations

Simona Bianconi, Andrew C. Smith, Niamh X. Cawley, An Dang, Dylan Hammond +14 more

Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1

Biology Open(2022)10.1242/bio.059052

N/A

0DataRank · unranked

25 citations

Antony Cougnoux, Craig B. Abbott, Rachel Luke, Tannia S. Clark, Niamh X. Cawley +3 more

Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology

International Journal of Molecular Sciences(2022)10.3390/ijms23095082

N/A

0DataRank · unranked

8 citations

A. Lyons, Daniel Abebe, Rachel Luke, Julia C. Yerger, Rebecca Telese +4 more

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107656

N/A

0DataRank · unranked

12 citations

Spencer Giddens, Nicole M. Farhat, Rachel Luke, Katelin E. J. Scott, Hibaaq O. Mohamed +6 more

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.101001

N/A

0DataRank · unranked

2 citations

Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault +10 more

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1

International Journal of Molecular Sciences(2024)10.3390/ijms25084217

N/A

0DataRank · unranked

11 citations

Derek Alexander, K. McKee, James Iben, Jorge L. Rodriguez‐Gil, Christopher A. Wassif +4 more

Elevated Cerebrospinal Fluid Total Tau in Niemann‐Pick Disease Type C1 : Correlation With Clinical Severity and Response to Therapeutic Interventions

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70016

N/A

0DataRank · unranked

4 citations

Ruyu Zhou, Nicole M. Farhat, James Iben, Derek Alexander, Rachel Luke +11 more

Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella

International Journal of Molecular Sciences(2020)10.3390/ijms21155368

N/A

0DataRank · unranked

38 citations

Julia C. Yerger, Mason Fellmeth, Jenny Serra‐Vinardell, Kyle B. Martin, Fatemeh Navid +5 more

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103443

N/A

0DataRank · unranked

0 citations

Ruyu Zhou, Avani V. Mylvara, Cameron Padilla, Derek Alexander, Nicole Y. Farhat +7 more

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

PLoS ONE(2020)10.1371/journal.pone.0227829

N/A

0DataRank · unranked

35 citations

Caitlin Sojka, Antony Cougnoux, A. Lyons, Elena‐Raluca Nicoli, Christopher A. Wassif +2 more