Emrah Kaygusuz

Effect of Cold Stress on Milk Yield, Milk Composition and Some Behavioral Patterns of Simmental Cows Kept in Open Shed Barns

Emrah Kaygusuz, F. Akdağ, 2021, Kocatepe Veterinary Journal.

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

S. Baig, P. Nürnberg, S. Tinschert, 2021, Genes.

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

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

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

L. Eichinger, A. Noegel, S. Baig, 2021, Clinical genetics.

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

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

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

A. Noegel, S. Baig, P. Nürnberg, 2020, Molecular genetics & genomic medicine.

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

P. Nürnberg, J. Altmüller, Yun Li, 2021, Journal of Medical Genetics.