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Article
Open AccessThe detection of a strong episignature for Chung–Jansen syndrome, partially overlap** with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that enc...
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Article
Open AccessBiallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous dis...
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Article
Open AccessAssessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore...
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Article
One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer’s Disease
Primary familial brain calcification (PFBC) is a rare disorder that can manifest with a wide spectrum of motor, cognitive, and psychiatric symptoms or even remain asymptomatic. Alzheimer disease (AD) is a comm...
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Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Exome sequencing (ES) has become the method of choice for diagnosing rare diseases, while the availability of short-read genome sequencing (SR-GS) in a medical setting is increasing. In addition, new sequencin...
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Article
Open AccessPhenotype and imaging features associated with APP duplications
APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers.
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Open AccessAuthor Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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Article
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the SMN1 gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease ...
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Article
Open AccessExome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do n...
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Open AccessPublisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
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Open AccessPenetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance i...
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Open AccessA postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subty...
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Article
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,...
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Article
Open AccessImpaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
The SorLA protein, encoded by the SORL1 gene, is a major player in Alzheimer’s disease (AD) pathophysiology. Functional and genetic studies demonstrated that SorLA deficiency results in increased production of Aβ...
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Article
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers
Microduplications of the 17q21.31 chromosomal region encompassing the MAPT gene, which encodes the Tau protein, were identified in patients with a progressive disorder initially characterized by severe memory imp...
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Article
Open AccessCommon variants in Alzheimer’s disease and risk stratification by polygenic risk scores
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curat...
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Article
Open AccessCorrection: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
A correction to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessWhole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
The Alzheimer’s Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), am...
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Article
Open AccessIron deficiency and anemia in adolescent girls consuming predominantly plant-based diets in rural Ethiopia
Rapid physical growth and the onset of menstruation during adolescence can increase the risk of iron deficiency (ID) and related adverse effects. However, little is known about the risk of anemia and ID among ...
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Article
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data
Massive parallel sequencing recently allowed the identification of three genes carrying a higher burden of rare, protein-truncating and missense predicted damaging variants in Alzheimer disease (AD) cases as c...
