Rafał Płoski

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 7%percentile

0.165Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Papers

Driven by 15 papers — median percentile 30. Top paper: “Cytotoxic T-Lymphocyte Associated Antigen 4 Gene Polymorphisms and Autoimmune Thyroid Disease: A Meta-Analysis”.

Cytotoxic T-Lymphocyte Associated Antigen 4 Gene Polymorphisms and Autoimmune Thyroid Disease: A Meta-Analysis

The Journal of Clinical Endocrinology & Metabolism(2007)10.1210/jc.2007-0147

N/A

8.7DataRank · unranked

181 citations

Takashi Akamizu, Takuya Awata, Yoshiyuki Ban, Dimitry A. Chistiakov, Irena Frydecka +31 more

Lamin A/C mutations in dilated cardiomyopathy

Cardiology Journal(2014)10.5603/cj.a2014.0037

N/A

0.637DataRank · unranked

69 citations

Michal Saj, Musfira Mohamed Uvaize, Hannah Nicolas, Rafał Płoski, Zofia Bilińska +1 more

Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis

Pancreatology(2022)10.1016/j.pan.2022.06.258

N/A

0.416DataRank · unranked

15 citations

Alexandra Demcsák, Florence Zankl, Grzegorz Oracz, Lara Unger, Peter Bugert +16 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

0.373DataRank · unranked

11 citations

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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.24.489208

N/A

0DataRank · unranked

0 citations

Magdalena Krygier, Natalia A. Szulc, Karolina Rutkowska, Joanna Kosińska, Agnieszka Pollak +6 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature Communications(2024)10.1038/s41467-023-44611-2

N/A

0DataRank · unranked

15 citations

Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David R. Bell +53 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0DataRank · unranked

4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies

Science Advances(2025)10.1126/sciadv.adw3717

N/A

0DataRank · unranked

1 citations

Erika Tavares, Katherine Bishara, Ayşegül Ozantürk, Leila Qebibo, Stephan Frangakis +25 more

A novel MAPK1 variant in a family with complex psychiatric and neurodegenerative clinical phenotype

Research Square(2025)10.21203/rs.3.rs-5881666/v1

N/A

0DataRank · unranked

0 citations

Abhishek Anil Dubey, Małgorzata Rydzanicz, Anna Barczak, Natalia Szulc, Bartłomiej Surpeta +14 more

PTPN4 germline variants result in aberrant neurodevelopment and growth

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100033

N/A

0DataRank · unranked

6 citations

Deepika Burkardt, Jorge L. Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg +11 more

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.007

N/A

0DataRank · unranked

26 citations

Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson +33 more

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

Human Molecular Genetics(2022)10.1093/hmg/ddac276

N/A

0DataRank · unranked

2 citations

Magdalena Krygier, Natalia A. Szulc, Karolina Rutkowska, Joanna Kosińska, Agnieszka Pollak +6 more

Rafał Płoski

Indexed papers

Top data-sharing exemplar

Papers