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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis ofExpand
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Febrile seizures affect 2–4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizuresExpand
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DEPDC5 mutations in genetic focal epilepsies of childhood
Recent studies reported DEPDC5 loss‐of‐function mutations in different focal epilepsy syndromes. Here we identified 1 predicted truncation and 2 missense mutations in 3 children with rolandicExpand
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Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygousExpand
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Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes
To test whether mutations in γ‐aminobutyric acid type A receptor (GABAA‐R) subunit genes contribute to the etiology of rolandic epilepsy (RE) or its atypical variants (ARE).
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Novel mutations in SLC6A5 with benign course in hyperekplexia
Infants suffering from life-threatening apnea, stridor, cyanosis, and increased muscle tone may often be misdiagnosed with infantile seizures and inappropriately treated because of lack and delay inExpand
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A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2
Rare coding variants in the triggering receptor expressed on myeloid cells‐2 (TREM2) gene have been associated with Alzheimer disease (AD) and homozygous TREM2 loss‐of‐function variants have beenExpand
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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to causeExpand
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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer’s disease risk (AD). The role of PLCG2 in immune system signaling suggests it mayExpand
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Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow
TLDR
Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow. Expand
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