Lista de obras - Maja Tarailo-Graovac - Dominio Público Uruguay

A case of splenomegaly in CBL syndrome

artículo científico publicado en 2017

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

artículo científico publicado en 2017

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

artículo científico publicado en 2017

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

artículo científico publicado en 2014

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

artículo científico publicado en 2015

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

artículo científico publicado en 2017

Atypical cerebral palsy: genomics analysis enables precision medicine

scientific article published on 13 December 2018

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

artículo científico publicado en 2015

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

artículo científico publicado en 2016

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2017

Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf-1/MAD1 in Caenorhabditis elegans

artículo científico publicado en 2014

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

artículo científico publicado en 2015

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

artículo científico publicado en 2015

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

scientific article published on 15 January 2019

Duplication of cyb-3 (cyclin B3) suppresses sterility in the absence of mdf-1/MAD1 spindle assembly checkpoint component in Caenorhabditis elegans

artículo científico publicado en 2010

Episodic ataxia associated with a de novo SCN2A mutation

artículo científico publicado en 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

artículo científico publicado en 2016

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

artículo científico publicado en 2014

FLAGS, frequently mutated genes in public exomes

artículo científico publicado en 2014

Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans

artículo científico publicado en 2011

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

artículo científico publicado en 2016

GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation

artículo científico publicado en 2018

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

artículo científico publicado en 2018

Genetic Modifiers and Rare Mendelian Disease

scientific article published on 25 February 2020

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

artículo científico publicado en 2018

Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegans

artículo científico publicado en 2014

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

artículo científico publicado en 2018

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

scientific article published on 01 April 2019

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

artículo científico publicado en 2017

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

artículo científico publicado en 2017

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

artículo científico publicado en 2018

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

artículo científico publicado en 2016

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

artículo científico publicado en 2016

Mos1-mediated transgenesis to probe consequences of single gene mutations in variation-rich isolates of Caenorhabditis elegans

artículo científico publicado en 2012

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2016

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

scientific article published on 01 March 2019

Polymorphic segmental duplication in the nematode Caenorhabditis elegans

artículo científico publicado en 2009

Proper cyclin B3 dosage is important for precision of metaphase-to-anaphase onset timing in Caenorhabditis elegans

artículo científico publicado en 2012

Rare disorders have many faces: in silico characterization of rare disorder spectrum

artículo científico publicado en 2022

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

artículo científico publicado en 2018

SimPEL: Simulation-based power estimation for sequencing studies of low-prevalence conditions

artículo científico publicado en 2018

Spectrum of mutational events in the absence of DOG-1/FANCJ in Caenorhabditis elegans

artículo científico publicado en 2008

Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation

artículo científico publicado en 2015

Spindle assembly checkpoint genes reveal distinct as well as overlapping expression that implicates MDF-2/Mad2 in postembryonic seam cell proliferation in Caenorhabditis elegans

artículo científico publicado en 2010

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

The genotypic and phenotypic spectrum of PIGA deficiency

artículo científico publicado en 2015

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

artículo científico publicado en 2016

The role of the clinician in the multi-omics era: are you ready?

artículo científico publicado en 2018

Uncovering Missing Heritability in Rare Diseases

artículo científico publicado en 2019

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

artículo científico publicado en 2016

Using RepeatMasker to identify repetitive elements in genomic sequences

artículo científico publicado en 2009

Lista de obras de Maja Tarailo-Graovac

A case of splenomegaly in CBL syndrome

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

Atypical cerebral palsy: genomics analysis enables precision medicine

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf-1/MAD1 in Caenorhabditis elegans

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Duplication of cyb-3 (cyclin B3) suppresses sterility in the absence of mdf-1/MAD1 spindle assembly checkpoint component in Caenorhabditis elegans

Episodic ataxia associated with a de novo SCN2A mutation

Exome Sequencing and the Management of Neurometabolic Disorders.

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

FLAGS, frequently mutated genes in public exomes

Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

Genetic Modifiers and Rare Mendelian Disease

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegans

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

Mos1-mediated transgenesis to probe consequences of single gene mutations in variation-rich isolates of Caenorhabditis elegans

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Polymorphic segmental duplication in the nematode Caenorhabditis elegans

Proper cyclin B3 dosage is important for precision of metaphase-to-anaphase onset timing in Caenorhabditis elegans

Rare disorders have many faces: in silico characterization of rare disorder spectrum

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

SimPEL: Simulation-based power estimation for sequencing studies of low-prevalence conditions

Spectrum of mutational events in the absence of DOG-1/FANCJ in Caenorhabditis elegans

Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation

Spindle assembly checkpoint genes reveal distinct as well as overlapping expression that implicates MDF-2/Mad2 in postembryonic seam cell proliferation in Caenorhabditis elegans

The genotypic and phenotypic spectrum of MTO1 deficiency.

The genotypic and phenotypic spectrum of PIGA deficiency

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

The role of the clinician in the multi-omics era: are you ready?

Uncovering Missing Heritability in Rare Diseases

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Using RepeatMasker to identify repetitive elements in genomic sequences