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View article: SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder Open
Different types of germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders: Schinzel-Giedion syndrome (SGS, via missense variants at a critical degron region) and SETBP1 -haploinsufficiency…
View article: The shared genetic architecture and evolution of human language and musical rhythm
The shared genetic architecture and evolution of human language and musical rhythm Open
View article: Evaluating the effects of archaic protein-altering variants in living human adults
Evaluating the effects of archaic protein-altering variants in living human adults Open
Advances in paleo-genetics allowed the identification of protein-coding changes arising on the lineage leading to Homo sapiens , by comparing genomes of present-day and archaic hominins. Experimental validation of the potential impact of s…
View article: Imaging genomics reveals genetic architecture of the globular human braincase
Imaging genomics reveals genetic architecture of the globular human braincase Open
Compared with our fossil ancestors and Neandertal kin, modern humans have evolved a distinctive skull shape, with a rounder braincase and more delicate face. Competing explanations for this rounder skull have either linked it to changes in…
View article: Neuroimaging genomics as a window into the evolution of human sulcal organization
Neuroimaging genomics as a window into the evolution of human sulcal organization Open
Primate brain evolution has involved prominent expansions of the cerebral cortex, with largest effects observed in the human lineage. Such expansions were accompanied by fine-grained anatomical alterations, including increased cortical fol…
View article: The shared genetic architecture and evolution of human language and musical rhythm
The shared genetic architecture and evolution of human language and musical rhythm Open
Rhythm and language-related traits are phenotypically correlated, but their genetic overlap is largely unknown. Here, we leveraged two large-scale genome-wide association studies performed to shed light on the shared genetics of rhythm (N=…
View article: Neuroimaging genomics as a window into the evolution of human sulcal organization
Neuroimaging genomics as a window into the evolution of human sulcal organization Open
Primate brain evolution has involved prominent expansions of the cerebral cortex, with largest effects observed in the human lineage. Such expansions were accompanied by fine-grained anatomical alterations, including increased cortical fol…
View article: Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia
Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia Open
View article: <i>NANOGP1</i> , a tandem duplicate of <i>NANOG</i> , exhibits partial functional conservation in human naïve pluripotent stem cells
<i>NANOGP1</i> , a tandem duplicate of <i>NANOG</i> , exhibits partial functional conservation in human naïve pluripotent stem cells Open
Gene duplication events can drive evolution by providing genetic material for new gene functions, and they create opportunities for diverse developmental strategies to emerge between species. To study the contribution of duplicated genes t…
View article: Discovery of 42 genome-wide significant loci associated with dyslexia
Discovery of 42 genome-wide significant loci associated with dyslexia Open
View article: Using neuroimaging genomics to investigate the evolution of human brain structure
Using neuroimaging genomics to investigate the evolution of human brain structure Open
Alterations in brain size and organization represent some of the most distinctive changes in the emergence of our species. Yet, there is limited understanding of how genetic factors contributed to altered neuroanatomy during human evolutio…
View article: Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people Open
The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on th…
View article: <i>NANOGP1</i>, a tandem duplicate of <i>NANOG</i>, exhibits partial functional conservation in human naïve pluripotent stem cells
<i>NANOGP1</i>, a tandem duplicate of <i>NANOG</i>, exhibits partial functional conservation in human naïve pluripotent stem cells Open
Gene duplication events are important drivers of evolution by providing genetic material for new gene functions. They also create opportunities for diverse developmental strategies to emerge between species. To study the contribution of du…
View article: <i>SETBP1</i>variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder
<i>SETBP1</i>variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder Open
Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (S…
View article: Genome-wide association analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Genome-wide association analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people Open
The use of spoken and written language is a capacity that is unique to humans. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30-80%, depending …
View article: Discovery of 42 Genome-Wide Significant Loci Associated with Dyslexia
Discovery of 42 Genome-Wide Significant Loci Associated with Dyslexia Open
Reading and writing are crucial for many aspects of modern life but up to 1 in 10 children are affected by dyslexia [1, 2], which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70% [3, 4], yet no convinci…