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Biomedicines|December 10, 2020
Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic MechanismsEge Ülgen, Sıla Karacan, Umut Gerlevik, et al.
Genome Research|September 3, 2011
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindredSuleyman Gulsuner, Ayse Begum Tekinay, Katja Doerschner, et al.
Neurogenetics|January 19, 2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyLuis E Kolb, Zulfikar Arlier, Cengiz Yalcinkaya, et al.
American Journal of Human Genetics|March 12, 2013
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesFarid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, et al.
American Journal of Medical Genetics. Part A|October 8, 2021
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemiaKelly M Werner, Allison J Cox, Emily Qian, et al.
European Journal of Medical Genetics|September 16, 2014
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathyAhmet Okay Caglayan, Sinan Comu, Jacob F Baranoski, et al.
Cell Reports|February 24, 2015
Vascular endothelial growth factor receptor 3 controls neural stem cell activation in mice and humansJinah Han, Charles-Félix Calvo, Tae Hyuk Kang, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 24, 2021
The genetic structure of the Turkish population reveals high levels of variation and admixtureM Ece Kars, A Nazlı Başak, O Emre Onat, et al.
Frontiers in Cell and Developmental Biology|May 10, 2021
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and MiceJae Yeon Hwang, Shoaib Nawaz, Jungmin Choi, et al.
Human Genome Variation|December 27, 2016
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformationDaniel Duran, Sheng Chih Jin, Tyrone DeSpenza, et al.
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