Usha Kini

Also affiliated with University of Oxford, St.John's Medical College Hospital, Oxford BioMedica (United Kingdom), Oxford University Hospitals NHS Trust

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 9 papers. Top paper: “Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes”.

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.05.318519

N/A

0DataRank · unranked

2 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Suk‐young Lee, Lita Duraine +13 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Genome Medicine(2021)10.1186/s13073-021-00873-3

N/A

0DataRank · unranked

32 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee +15 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in Medicine(2022)10.1016/j.gim.2022.09.007

N/A

0DataRank · unranked

11 citations

Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt +39 more

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

European Journal of Human Genetics(2023)10.1038/s41431-023-01451-4

N/A

0DataRank · unranked

8 citations

Xiaonan Zhao, Nichole Owen, Pamela N. Luna, Ida Vogel, Inger Lily Hjuler Dorf +27 more

PSMC5 insufficiency and P320R mutation impair proteasome function

Human Molecular Genetics(2024)10.1093/hmg/ddae085

N/A

0DataRank · unranked

4 citations

Jenny Carmichael, G. Collins, Daniela D’Agostino, Mathieu Lessard, Helen V. Firth +8 more