Author details

Full Name

Melanie Bahlo

Affiliation

ORCID

Career Start Year

1998

Papers

243

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36658335	Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.		2023
35945246	Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.	European Journal of Human Genetics	2023
36117209	Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.	Molecular Psychiatry	2023
37597255	Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.	Ann Neurol	2023
37733280	Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.		2023
37977818	Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.		2023
38052068	Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering.		2023
36779245	WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.		2023
37146135	Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.		2023
36579937	and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV Î±3 and Î±4 chains.		2023
37461515	High resolution imaging and five-year tuberculosis contact outcomes.		2023
37270187	Young-onset dementia diagnosis, management and care.		2023
37267898	An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.	Am J Hum Genet	2023
36493768	An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.	Am J Hum Genet	2023
37322043	Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.	Nat Commun	2023
36808730	Genes4Epilepsy: An epilepsy gene resource.		2023
36997154	Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease.	Mol Metab	2023
36745234	Spatial distribution of metabolites in the retina and its relevance to studies of metabolic retinal disorders.	Metabolomics	2023
37115691	iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.	J Clin Invest	2023
37296101	Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.	Nat Commun	2023
37292786	Statistical haemoglobin thresholds to define anaemia across the lifecycle.		2023
35137044	Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.	Hum Mol Genet	2022
35395208	Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.	Am J Hum Genet	2022
35907931	Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment.	Scientific Reports	2022
35906014	Clinical impact of whole-genome sequencing in patients with early-onset dementia.	Journal of Neurology, Neurosurgery and Psychiatry	2022
35709258	Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.	Science	2022
36288729	A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.	Am J Hum Genet	2022
35636315	Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.	EBioMedicine	2022
36148898	Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.	Movement Disorders	2022
35930640	Neonatal BCG vaccination is associated with a long-term DNA methylation signature in circulating monocytes.	Sci Adv	2022
35613520	NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk.	Neurobiology of Aging	2022
35411967	Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.	Ann Neurol	2022
36192176	Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.	Neurology	2022
35786744	Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.	Brain	2022
34633740	A family study implicates GBE1 in the etiology of autism spectrum disorder.	Hum Mutat	2022
35296891	Atypical development of Broca's area in a large family with inherited stuttering.	Brain	2022
35307825	Self-reported impact of developmental stuttering across the lifespan.	Developmental Medicine and Child Neurology	2022
35217695	PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.	Communications Biology	2022
34717047	Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.	Epilepsia Open	2022
35097204	Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.	Neurology: Genetics	2022
35007277	Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species.	PLoS Genetics	2022
35108259	Global diversity and balancing selection of 23 leading Plasmodium falciparum candidate vaccine antigens.	PLoS Comput Biol	2022
35093239	Genetics of reticular pseudodrusen in age-related macular degeneration.	Trends Genet	2022
35303433	Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.	Dev Cell	2022
34535545	A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism.	RNA	2021
33862015	Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development.	Immunity	2021
33750426	Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.	Genome Med	2021
33798445	Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.	American Journal of Human Genetics	2021
33738444	Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.	Brain Communications	2021
34002542	Loss-of-function variants in K 11.1 cardiac channels as a biomarker for SUDEP.	Annals of Clinical and Translational Neurology	2021