Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Yigit G., Sheffer R., Daana M., Li Y., Kaygusuz E., Mor-Shakad H., et al.
Journal of medical genetics , cilt.59, sa.6, ss.549-553, 2022 (SCI-Expanded) Creative Commons License identifier identifier

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Kaygusuz E., Khayyat A. I. A., Abdullah U., Budde B. S., Asif M., Ahmed I., et al.
Clinical genetics , cilt.100, sa.4, ss.486-488, 2021 (SCI-Expanded) identifier identifier

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Makhdoom E. U. H., Waseem S. S., Iqbal M., Abdullah U., Hussain G., Asif M., et al.
Genes , cilt.12, sa.5, 2021 (SCI-Expanded) Creative Commons License identifier identifier

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S., Baig J. M., Moawia A., Ahmad I., Iqbal M., Waseem S. S., et al.
Molecular genetics & genomic medicine , cilt.8, sa.9, 2020 (SCI-Expanded) identifier identifier

Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome

Hussain M. S., Battaglia A., Szczepanski S., Kaygusuz E., Toliat M. R., Sakakibara S., et al.
American Journal of Human Genetics , cilt.95, sa.5, ss.622-632, 2014 (SCI-Expanded) identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Asif M., Kaygusuz E., Shinawi M., Nickelsen A., Hsieh T., Wagle P., et al.
Human Genetics and Genomics Advances , cilt.3, sa.3, 2022 (Scopus) identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Role of encoding casein kinase II subunit beta in a new intellectual disability-craniodigital syndrome (Davetli Konuşmacı)

KAYGUSUZ E.
Workshop on Rare Diseases, İstanbul, Türkiye, 03 Aralık 2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway (Davetli Konuşmacı)

KAYGUSUZ E.
8th International Congress of the Molecular Biology Association of Turkey, İstanbul, Türkiye, 9 - 12 Haziran 2022

Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome

KAYGUSUZ E.
5th International Congress of the Molecular Biology Association of Turkey, İstanbul, Türkiye, 08 Eylül 2017

De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome

KAYGUSUZ E., Asif M.
European Society of Human Genetics (ESHG) Conference, Glasgow, İngiltere, 06 Haziran 2020

De novo mutation of CSNK2B encoding beta subunit of casein kinase 2 causes Filippi syndrome

KAYGUSUZ E.
52nd European Society of Human Genetics (ESHG) Conference, Gothenburg, İsveç, 15 Haziran 2019

Pathogenic consequences of impaired Wnt signaling and DNA damage response delineates Filippi syndrome

KAYGUSUZ E., Asif M., Brancati F., Nickelsen A., Nienberg C., Jose J., et al.
35th Ernst Klenk Symposium in Molecular Medicine, Cologne, Almanya, 15 - 17 Eylül 2019

Identification of a founder mutation in Pakistani families affected with Jawad syndrome

KAYGUSUZ E., Nürnberg P., Noegel A., Hussain M. S.
Arbeitsgemeinschaft Für Gen-Diagnostik e.V., Berlin, Almanya, 6 - 08 Ekim 2017

Identification of Founder Mutation in Pakistani Families Affected With Jawad Syndrome

KAYGUSUZ E., Hussain M. S., Nürnberg P., Noegel A., Altmüller J., Budde B., et al.
5th International Congress of the Molecular Biology Association of Turkey, İstanbul, Türkiye, 8 - 10 Eylül 2017

Filippi syndrome is aheterogenic disorder with a high proportion of CKAP2L mutations

KAYGUSUZ E., Hussain M. S., Szczepanski S., Nürnberg P., Noegel A.
31st Ernst Klenk Symposium in Molecular Medicine, Cologne, Almanya, 27 - 29 Eylül 2015

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

KAYGUSUZ E., Hussain M. S., Altmüller J., Wollnik B., Szczepanski S., Noegel A., et al.
International Meeting of the German Society for Cell Biology, Cologne, Almanya, 24 - 27 Mart 2015

Kitap & Kitap Bölümleri

Describing genetic basis and disease pathogenesis of Filippi syndrome

KAYGUSUZ E.
Cinius, İstanbul, 2022

Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome

KAYGUSUZ E.
Cinius Yayınları, 2021