Kinga M. Bujakowska

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 24 papers. Top paper: “De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa”.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Nature Genetics(2026)10.1038/s41588-025-02451-4

N/A

0.370DataRank · unranked

8 citations

Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +212 more

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.005

N/A

0DataRank · unranked

55 citations

Xénia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C. Koboldt, Georgios Kellaris +72 more

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

International Journal of Molecular Sciences(2022)10.3390/ijms23137189

N/A

0DataRank · unranked

15 citations

Giuseppe De Bartolo, Saddek Mohand‐Saïd, Christel Condroyer, Aline Antonio, Marie‐Elise Lancelot +8 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

JCI Insight(2024)10.1172/jci.insight.183902

N/A

0DataRank · unranked

10 citations

Jennifer Huey, Riccardo Sangermano, Emily Place, Kinga M. Bujakowska, Molly Marra +6 more

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.020

N/A

0DataRank · unranked

7 citations

Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Siying Lin +40 more

Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases

International Journal of Molecular Sciences(2024)10.3390/ijms26010114

N/A

0DataRank · unranked

5 citations

Alba Ortega-Gascó, Hafiz Muhammad Azhar Baig, Nathan Ehrenreich, Thibaud Metais, Michael J. Scandura +4 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

medRxiv(2024)10.1101/2024.12.21.24318325

N/A

0DataRank · unranked

3 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101574

N/A

0DataRank · unranked

5 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

Genetics in Medicine(2025)10.1016/j.gim.2025.101401

N/A

0DataRank · unranked

4 citations

Maayan Avraham, Sandeep Sarma Asodu, Abigail R. Moye, Riccardo Sangermano, Leah Rizel +19 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

medRxiv(2025)10.1101/2025.01.06.24317169

N/A

0DataRank · unranked

15 citations

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +95 more

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina

medRxiv(2025)10.1101/2025.04.25.25326445

N/A

0DataRank · unranked

0 citations

Ayellet V. Segrè, Kinga M. Bujakowska, Steve Haynes, Diana Baralle, Siddharth Banka +4 more

Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen

PLoS Genetics(2025)10.1371/journal.pgen.1011886

N/A

0DataRank · unranked

0 citations

Mark P. Krebs, Riccardo Sangermano, Jessica K. Wong, Cynthia L. Smith, Amelia Willett +14 more