Brian Kirmse

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: “Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder”.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0.598DataRank · unranked

53 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 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

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

Distinct cord blood C-peptide, adipokine, and lipidomic signatures by in utero HIV exposure

Pediatric Research(2021)10.1038/s41390-021-01705-1

N/A

0DataRank · unranked

7 citations

Lauren C. Balmert, Shan Sun, Yunping Qiu, Thomas Kraus, Brian Kirmse +8 more

Associations of FGF21 and GDF15 with mitochondrial dysfunction in children living with perinatally-acquired HIV: A cross-sectional evaluation of pediatric AIDS clinical trials group 219/219C

PLoS ONE(2021)10.1371/journal.pone.0261563

N/A

0DataRank · unranked

3 citations

Denise L. Jacobson, Carly Broadwell, Brad Karalius, Brian Kirmse, Mitchell E. Geffner +8 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

The Knowledge Bank (The Ohio State University)(2023)10.1101/2023.02.02.526527

N/A

0DataRank · unranked

0 citations

Olivia D’Annibale, Anuradha Karunanidhi, Al‐Walid Mohsen, Brian Kirmse, Steven F. Dobrowolski +2 more

Malaria in HIV-Infected Children Receiving HIV Protease-Inhibitor- Compared with Non-Nucleoside Reverse Transcriptase Inhibitor-Based Antiretroviral Therapy, IMPAACT P1068s, Substudy to P1060

UNC Libraries(2020)10.17615/72mc-9j68

N/A

0DataRank · unranked

0 citations

Severiano Phakati, George Kafulafula, Darius Simbeye, Felistas Mbewe, David Balamusani +31 more

A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108495

N/A

0DataRank · unranked

6 citations

Olivia D’Annibale, Anuradha Karunanidhi, Al‐Walid Mohsen, Brian Kirmse, Steven F. Dobrowolski +2 more