Get started
Author

Emrah Kaygusuz

Observed names: Kaygusuz, E., Kaygusuz, Emrah
ORCID: 0000-0001-6984-8526
Observed ORCID: 0000-0001-6984-8526
OpenAlex ID: A5058004513
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
2014 · Muhammad Sajid Hussain, Agatino Battaglia, et al. · The American Journal of Human Genetics · 51
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
2020 · Sajida Rasool, Jamshaid Mahmood Baig, et al. · Molecular Genetics & Genomic Medicine · 39
PDF
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
2022 · Maria Asif, Emrah Kaygusuz, et al. · Human Genetics and Genomics Advances · 21
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
2021 · Gökhan Yigit, Ruth Sheffer, et al. · Journal of Medical Genetics · 17
PDF
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
2021 · Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, et al. · Genes · 12
PDF
A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome
2021 · Emrah Kaygusuz, Arwa Ishaq A. Khayyat, et al. · Clinical Genetics · 4
PDF
Synergistic MDM2-STAT3 Inhibition Demonstrates Strong Anti-Leukemic Efficacy in Acute Lymphoblastic Leukemia
2025 · Erhan Aptullahoglu, Emrah Kaygusuz · International Journal of Molecular Sciences · 1
PDF
InsightRP2—An Interdisciplinary Approach Toward Therapy Development in RP2 -Associated Retinopathy
2026 · Nina Bögershausen, Gökhan Yigit, et al. · Human Gene Therapy
Insights Into RP2 ‐Associated Retinopathy: From Molecular Basis to Clinical Translation
2026 · Nina Bögershausen, Patricia Döring, et al. · Human Mutation
PDF
Corrigendum
2022 · Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., et al. · Clinical Genetics
PDF
Author response for "A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome"
2021 · Emrah Kaygusuz, Arwa Ishaq A. Khayyat, et al. · Publons reviews and discussion
Role of CSNK2B encoding casein kinase II subunit beta in Filippi Syndrome
2017 · Emrah Kaygusuz · Kölner Universitäts PublikationsServer (Universität zu Köln)
PDF
Works count: 14
Citation count: 146
H-index: 5
I10-index: 5
Year
Topic
Type