Hülya Kayserili

Also affiliated with Istanbul University

Biochemistry, Genetics and Molecular Biology

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 8 papers. Top paper: “Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder”.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Brain(2024)10.1093/brain/awae363

N/A

0.104DataRank · unranked

1 citations

Elisa Calì, Reza Maroofian, Maha S. Zaki, Alistair T. Pagnamenta, Zafar Ali +51 more

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.003

N/A

0DataRank · unranked

23 citations

Sze Hwee Seet, Michael Maier, Ayşe Gürel, Ricardo Moreno Traspas, Cheryl Lee +67 more

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

medRxiv(2021)10.1101/2021.03.31.21253863

N/A

0DataRank · unranked

0 citations

Sze Hwee Seet, Michael Maier, Ricardo Moreno Traspas, Cheryl Lee, Zhang Shan +42 more

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

Science Immunology(2022)10.1126/sciimmunol.abi4611

N/A

0DataRank · unranked

51 citations

Kim S. Robinson, Kenneth Lay, Jasmine C. Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh +24 more

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

EMBO Molecular Medicine(2023)10.15252/emmm.202317973

N/A

0DataRank · unranked

12 citations

Alex Pines, Tuğba Kalaycı, José María Heredia‐Genestar, Anja Raams, Marion Rietveld +15 more

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications(2024)10.1038/s41467-024-45933-5

N/A

0DataRank · unranked

10 citations

Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü +52 more

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Nature Communications(2020)10.1038/s41467-020-18146-9

N/A

0DataRank · unranked

64 citations

Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili +25 more

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Brain(2025)10.1093/brain/awaf021

N/A

0DataRank · unranked

7 citations

Maike F. Dohrn, Riccardo Curró, Sara Negri, Petra Laššuthová, Chiara Pisciotta +76 more