Sedat Işıkay

MedicineBiochemistry, 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 7 papers. Top paper: “High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population”.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.009

N/A

0.697DataRank · unranked

103 citations

Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih +44 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

0.373DataRank · unranked

11 citations

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

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51003

N/A

0DataRank · unranked

30 citations

Tadahiro Mitani, Sedat Işıkay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam +19 more

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.016

N/A

0DataRank · unranked

10 citations

Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt +42 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

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

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