Mary Kay Koenig

Also affiliated with The University of Texas Health Science Center

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 10 papers. Top paper: “Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy”.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Neurology(2023)10.1212/wnl.0000000000207402

N/A

1.5DataRank · unranked

72 citations

Enrico Bertini, Valério Carelli, Bruce H. Cohen, Gregory M. Enns, Marni J. Falk +59 more

A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

Epilepsia(2022)10.1111/epi.17263

N/A

0.944DataRank · unranked

27 citations

Stéphane Auvin, Abigail Collins, Rita Horváth, Ingrid E Scheffer, Michal Tzadok +11 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

A new pathogenic POLG variant

Molecular Genetics and Metabolism Reports(2022)10.1016/j.ymgmr.2022.100890

N/A

0.312DataRank · unranked

7 citations

Ekta G. Shah, William C. Copeland, Mary Kay Koenig, S. Nicholas Russo

Heterozygous variants in SPTBN1 cause intellectual disability and autism

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62201

N/A

0DataRank · unranked

28 citations

Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael Parker, Mary Kay Koenig +17 more

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145

N/A

0DataRank · unranked

36 citations

Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen +48 more

Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results

Annals of the Child Neurology Society(2024)10.1002/cns3.20070

N/A

0DataRank · unranked

17 citations

David M. Ritter, David Neal Franz, Molly S. Griffith, Kristn Currans, Bridget Kent +15 more

Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results

UNC Libraries(2024)10.17615/f64k-h824

N/A

0DataRank · unranked

0 citations

David Neal Franz, Kenneth D.R. Setchell, Kristn Currans, Bridget Kent, E. Martina Bebin +15 more

Neurodevelopmental Outcomes From the PREVeNT Trial

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.09.006

N/A

0DataRank · unranked

0 citations

Jamie K. Capal, Tarrant McPherson, Kristina E. Patrick, Deborah A. Pearson, Peter E. Davis +18 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more