Katy Barwick

Also affiliated with University College London

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 6 papers. Top paper: “De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy”.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

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

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.019

N/A

0DataRank · unranked

47 citations

Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu +42 more

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Movement Disorders(2022)10.1002/mds.29147

N/A

0DataRank · unranked

11 citations

Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen +32 more

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Neurology(2023)10.1212/wnl.0000000000207241

N/A

0DataRank · unranked

3 citations

Federica Rachele Danti, Mohamed Abunada, Benjamin Kamien, Sony Malhotra, Maya Topf +11 more

Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.13.556416

N/A

0DataRank · unranked

3 citations

Nivedita Singh, Lorita Gianfrancesco, Dimitri Budinger, Katy Barwick, Alexander Agrotis +13 more