Stanislav Kmoch

Also affiliated with Wake Forest University

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 19 papers. Top paper: “Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy”.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Journal of Clinical Investigation(2021)10.1172/jci142148

N/A

1.2DataRank · unranked

27 citations

Alex V. Postma, Christian Salazar, Daniel M. De Laughter, Fleur V.Y. Tjong, Lenka Piherová +51 more

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Nature Genetics(2013)10.1038/ng.2543

N/A

0.862DataRank · unranked

313 citations

Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel +43 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Kidney International Reports(2020)10.1016/j.ekir.2020.06.029

N/A

0DataRank · unranked

54 citations

Petr Vyleťal, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová +37 more

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Kidney International(2020)10.1016/j.kint.2020.06.041

N/A

0DataRank · unranked

43 citations

Kendrah Kidd, Mohamad Zaidan, Petr Vyleťal, Veronika Barešová, Kateřina Hodaňová +51 more

POLRMT mutations impair mitochondrial transcription causing neurological disease

Nature Communications(2021)10.1038/s41467-021-21279-0

N/A

0DataRank · unranked

60 citations

Bradley Peter, Zsolt Szilágyi, Héctor Díaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville +34 more

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β

Pediatric Nephrology(2021)10.1007/s00467-021-05118-4

N/A

0DataRank · unranked

20 citations

Matthias T. F. Wolf, Kendrah Kidd, Martina Živná, Stanislav Kmoch, Anthony J. Bleyer

MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice

Nature Communications(2023)10.1038/s41467-023-42154-0

N/A

0DataRank · unranked

58 citations

Chuang Li, Chenjian Gu, Yili Fang, Eric Tycksen, Anuradhika Puri +14 more

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Human Molecular Genetics(2023)10.1093/hmg/ddad109

N/A

0DataRank · unranked

16 citations

Anil Kumar Ganga, Lenka Nosková, Irene Valenzuela, Jéléna Martinovic, Yannis Duffourd +10 more

Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis

Journal of Biological Chemistry(2023)10.1016/j.jbc.2023.102925

N/A

0DataRank · unranked

7 citations

Carol L. Kinlough, Allison L. Marciszyn, Tracey Lam, Lorena Ye, Kendrah Kidd +10 more

Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys

Antioxidants(2023)10.3390/antiox12040900

N/A

0DataRank · unranked

5 citations

Haley Arbore, Elizabeth Childs, Amy B. Huynh, Yu Leng Phua, Chi‐Wei Chen +12 more

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

Kidney International Reports(2023)10.1016/j.ekir.2023.01.017

N/A

0DataRank · unranked

1 citations

Kendrah Kidd, Petr Vyleťal, Estela Nogueira, Lauren Martin, Katrice Howard +11 more

MANF stimulates autophagy and restores mitochondrial homeostasis to treat toxic proteinopathy

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.10.523171

N/A

0DataRank · unranked

0 citations

Chuang Li, Chenjian Gu, Eric Tycksen, Anuradhika Puri, Terri Pietka +14 more

Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors

Journal of Clinical Investigation(2024)10.1172/jci180347

N/A

0DataRank · unranked

16 citations

Matthew Brown, Jason Zavras, Magdalena Riedl Khursigara, Elizabeth Grinkevich, Eriene-Heidi Sidhom +29 more

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study

medRxiv(2024)10.1101/2024.07.03.24309887

N/A

0DataRank · unranked

0 citations

Adrienne H. Williams, Abbigail Taylor, Lauren Martin, Victoria Robins, John A. Sayer +21 more

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.09.06.673538

N/A

0DataRank · unranked

3 citations

Anna Přistoupilová, Kendrah Kidd, Václav Janoušek, Martin Radina, Petr Vyleťal +38 more

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

medRxiv(2025)10.1101/2025.05.06.25326635

N/A

0DataRank · unranked

2 citations

Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Alghamdi +64 more

An Observational Study of SGLT2 Inhibitors and Their Use in Autosomal Dominant Tubulointerstitial Kidney Disease

Research Square(2025)10.21203/rs.3.rs-7482366/v1

N/A

0DataRank · unranked

1 citations

Adrienne H. Williams, Elhussein A. Elhassan, Abbigail Taylor, Lauren Martin, Alice Kim +7 more

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Kidney International(2020)10.1016/j.kint.2020.04.038

N/A

0DataRank · unranked

147 citations

Patrick Hofmann, Kendrah Kidd, Inès Dufour, Hendrica Belge, Céline Schaeffer +28 more