Dr. Öğr. Üyesi EMRAH KAYGUSUZ

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)

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)

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)

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)

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)

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)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

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, (Özet Bildiri)

Kitaplar

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

Metrikler

Yayın

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (Scholar)

267

Dr. Öğr. Üyesi EMRAH KAYGUSUZ

Yayınlar & Eserler

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

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

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

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

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

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

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

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

Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome

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

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

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

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

Identification of Founder Mutation in Pakistani Families Affected With Jawad Syndrome

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

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

Describing genetic basis and disease pathogenesis of Filippi syndrome

Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome

Yayın

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (Scholar)

H-İndeks (Scholar)

Proje

Açık Erişim