Clinical impact of whole-genome sequencing in patients with early-onset dementia

New insights into the genetic etiology of Alzheimer’s disease and related dementias

(2022) Céline Bellenguez et al.   NATURE GENETICS

Genetic Testing in Dementia – A Medical Genetics Perspective

(2021) Aamira J. Huq et al.   INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

(2021) Andre E. Minoche et al.   Genome Medicine

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

(2020) Dhamidhu Eratne et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Systematic review of genetic variants associated with cognitive impairment and depressive symptoms in Parkinson’s disease

(2019) Tyrra D’Souza et al.   ACTA NEUROPSYCHIATRICA

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years

(2019) Morgane Lacour et al.   JOURNAL OF ALZHEIMERS DISEASE

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

AnnotSV: an integrated tool for structural variations annotation

(2018) Véronique Geoffroy et al.   BIOINFORMATICS

Alzheimer’s Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing

(2018) Jill S. Goldman et al.   Molecular Diagnosis & Therapy

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

(2018) C. Koriath et al.   MOLECULAR PSYCHIATRY

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

(2017) Rahul S. Desikan et al.   PLOS MEDICINE

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

(2017) Hélène-Marie Lanoiselée et al.   PLOS MEDICINE

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

(2017) Maie Walsh et al.   Annals of Clinical and Translational Neurology

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

(2013) Michael A. Nalls et al.   JAMA Neurology

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

(2012) Julie van der Zee et al.   HUMAN MUTATION

Prevalence and Demographic Features of Early-Onset Neurodegenerative Dementia in Brescia County, Italy

(2011) Barbara Borroni et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Parkinson's disease and α-synuclein expression

(2011) Michael J. Devine et al.   MOVEMENT DISORDERS

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   NEUROLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE