Lista de obras - Melanie Bahlo - Dominio Público Uruguay

A cross-platform approach identifies genetic regulators of human metabolism and health

scientific article published on 07 January 2021

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

artículo científico publicado en 2020

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

artículo científico publicado en 2018

A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism

artículo científico publicado en 2021

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice ⬇️

artículo científico publicado el 2 de junio de 2011

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

artículo científico publicado en 2016

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

artículo científico publicado en 2021

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

artículo científico publicado en 2020

Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data

artículo científico publicado en 2018

Contribution of rare genetic variants to drug response in absence epilepsy

artículo científico publicado en 2021

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

artículo científico publicado en 2017

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

artículo científico publicado en 2020

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus

artículo científico publicado en 2012

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

scientific article published on 24 September 2020

Genome-wide analyses identify common variants associated with macular telangiectasia type 2.

artículo científico publicado en 2017

Global diversity and balancing selection of 23 leading Plasmodium falciparum candidate vaccine antigens

artículo científico publicado en 2022

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

artículo científico publicado en 2011

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

artículo científico publicado en 2021

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

artículo científico publicado en 2023

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

artículo científico publicado en 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

artículo científico publicado en 2024

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

artículo científico

PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus

artículo científico publicado en 2022

Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species

artículo científico publicado en 2022

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

artículo científico publicado en 2019

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

artículo científico publicado en 2018

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

scientific article published on 30 April 2019

Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity

artículo científico publicado en 2022

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease

artículo científico publicado en 2020

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

artículo científico publicado en 2020

Transcriptome analysis of a ring chromosome 20 patient cohort

artículo científico publicado en 2020

UKB.COVID19: an R package for UK Biobank COVID-19 data processing and analysis

artículo científico publicado en 2022

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

X chromosome association testing in genome wide association studies ⬇️

artículo científico publicado el 4 de agosto de 2011

Lista de obras de Melanie Bahlo

A cross-platform approach identifies genetic regulators of human metabolism and health

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice ⬇️

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data

Contribution of rare genetic variants to drug response in absence epilepsy

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

Genome-wide analyses identify common variants associated with macular telangiectasia type 2.

Global diversity and balancing selection of 23 leading Plasmodium falciparum candidate vaccine antigens

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus

Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Transcriptome analysis of a ring chromosome 20 patient cohort

UKB.COVID19: an R package for UK Biobank COVID-19 data processing and analysis

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

X chromosome association testing in genome wide association studies ⬇️