Analysis of shared heritability in common disorders of the brain
…, GM Terwindt, T Freilinger, C Ran, SD Gordon, G Borck… - Science, 2018 - science.org
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
…, C Ran, SG Gordon, AH Stam, S Steinberg, G Borck… - Nature …, 2016 - nature.com
Migraine is a debilitating neurological disorder affecting around one in seven people worldwide,
but its molecular mechanisms remain poorly understood. There is some debate about …
but its molecular mechanisms remain poorly understood. There is some debate about …
Genome-wide meta-analysis identifies new susceptibility loci for migraine
…, PAF Madden, GW Montgomery, NG Martin, G Borck… - Nature …, 2013 - nature.com
Migraine is the most common brain disorder, affecting approximately 14% of the adult
population, but its molecular mechanisms are poorly understood. We report the results of a meta-…
population, but its molecular mechanisms are poorly understood. We report the results of a meta-…
Functional and phenotypic characteristics of human leptin receptor mutations
A Nunziata, JB Funcke, G Borck… - Journal of the …, 2019 - academic.oup.com
Several case series of extreme early-onset obesity due to mutations in the human leptin
receptor (LEPR) gene have been reported. In this review we summarize published functional …
receptor (LEPR) gene have been reported. In this review we summarize published functional …
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer
…, N Arnold, N Maass, G Borck… - Journal of medical …, 2016 - jmg.bmj.com
Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and
BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and …
BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and …
[PDF][PDF] Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
…, SH Eck, E Graf, R Buchert, G Borck… - The American Journal of …, 2011 - cell.com
Intellectual disability inherited in an autosomal-recessive fashion represents an important
fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these …
fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these …
Hot-spot KIF5A mutations cause familial ALS
…, T Klopstock, M De Carvalho, A Sperfeld, G Borck… - Brain, 2018 - academic.oup.com
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the
kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and …
kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and …
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
…, C Carducci, K Hyland, M Rotstein, V Leuzzi, G Borck… - Brain, 2014 - academic.oup.com
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited
dopamine ‘transportopathy’ to be described, with a classical presentation of early infantile-…
dopamine ‘transportopathy’ to be described, with a classical presentation of early infantile-…
[HTML][HTML] Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Purpose To characterize the molecular genetics of autosomal recessive Noonan syndrome.
Methods Families underwent phenotyping for features of Noonan syndrome in children and …
Methods Families underwent phenotyping for features of Noonan syndrome in children and …
A mutation screen in patients with Kabuki syndrome
…, G Borck, G Gillessen-Kaesbach, G Yigit… - Human genetics, 2011 - Springer
Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental
retardation syndromes, mainly characterized by a very distinctive facial appearance in …
retardation syndromes, mainly characterized by a very distinctive facial appearance in …