Single-Cell Neurogenetics

Single-cell analysis, including single-cell RNA sequencing, allows the discovery of new cell populations and expresssion patterns at single-cell resolution. When applied to neurogenetics, single-cell analysis can potentially uncover novel biological mechanisms underlying neurological disorders. Here is the latest research on Single-Cell Neurogenetics.

December 14, 2018
Open Access

Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes

Journal of Autism and Developmental Disorders
Wei Siong Neo, Bridgette L Tonnsen
July 16, 2020
Preprint
Open Access

Multi-modal single cell analysis reveals brain immune landscape plasticity during aging and gut microbiota dysbiosis

BioRxiv : the Preprint Server for Biology
S. M. GolombSiyuan Zhang
May 15, 2020
Open Access

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

BMC Medical Genomics
Mahmoud Y IssaJoseph G Gleeson
August 14, 2020
Preprint
Open Access

Should we Investigate Mitochondrial Disorders in Progressive Adult-onset Undetermined Ataxias?

ResearchSquare
José Luiz PedrosoAcary Souza Bulle Oliveira
December 11, 2019
Open Access

Neurological Disorder Drug Discovery from Gene Expression with Tensor Decomposition

Current Pharmaceutical Design
Y-H Taguchi, Turki Turki
February 3, 2020
Preprint
Open Access

The Oft-Overlooked Massively Parallel Reporter Assay: Where, When, and Which Psychiatric Genetic Variants are Functional?

BioRxiv : the Preprint Server for Biology
Bernard MulveyJoseph D Dougherty
December 20, 2018
Open Access

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Frontiers in Neurology
Angelica D'AmoreFilippo Maria Santorelli
April 12, 2020

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study

Developmental Medicine and Child Neurology
Silvia SchiavoniCarlo Fusco
April 4, 2019
Preprint
Open Access

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

BioRxiv : the Preprint Server for Biology
Haloom RafehiPaul J Lockhart
July 6, 2019

Diagnostic yield of next-generation sequencing applied to neurological disorders

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Cláudia Marques MatosM Leão
September 27, 2018
Open Access

Single cell molecular alterations reveal target cells and pathways of concussive brain injury

Nature Communications
Douglas ArnesonXia Yang
April 11, 2019
Open Access

Clinical utility in infants with suspected monogenic conditions through next-generation sequencing

Molecular Genetics & Genomic Medicine
Sha HongTianwen Zhu
June 25, 2019
Open Access

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

American Journal of Human Genetics
Haloom RafehiPaul J Lockhart
December 7, 2019
Open Access

Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort

Parkinsonism & Related Disorders
O E E GrahamM A Kennedy

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