Author

Gönül Çatlı

Sağlık Bilimleri ÜniversitesiORCID 0000-0002-0488-6377Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ali Kemal TopalogluiD· 1 shared Ayça AltıncıkiD· 1 shared Bilgin YükseliD· 1 shared Cumali Gökçe· 1 shared Fatih GürbüziD· 1 shared Fuat BuğruliD· 1 shared Hyun-Ju ChoiD· 1 shared İhsan TuraniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ali Kemal TopalogluORCID

Mutual co-authors in cluster

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1 paper

Recent·Most cited

POU6F2 mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expression

Hyun-Ju Cho, Fatih Gürbüz, Maria I. Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Şule Can, Miranda Faith Tompkins, Jamala Mammadova, Ayça Altıncık, Cumali Gökçe, Gönül Çatlı, Fuat Buğrul, Keenan Bartlett, İhsan Turan, Ravikumar Balasubramanian, , Ali Kemal Topaloglu

The paper identifies POU6F2 mutations in IHH patients, showing isoform1 regulates GnRH expression and variants disrupt this function, contributing to pubertal failure.

bioRxiv · Oct 12, 2022 · PreprintGenetics