List of works - Maja Tarailo-Graovac

A case of splenomegaly in CBL syndrome

scientific article

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

scientific article published in August 2017

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

scientific article

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

scientific article published on 24 June 2014

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

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

scientific article

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 ⬇️

scientific article

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

scientific article published on 3 February 2016

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

scientific article published in May 2017

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

scientific article published on January 2014

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

scientific article

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

scientific article published on 28 March 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

scientific article published on 15 December 2010

Episodic ataxia associated with a de novo SCN2A mutation

scientific article published on 14 June 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

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

scientific article published on 30 November 2014

FLAGS, frequently mutated genes in public exomes

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 May 2018

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

scientific article published on 29 May 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.

scientific article

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

scientific article

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

scientific article published on 01 November 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

scientific article

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

scientific article published on 20 February 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

scientific article published in January 2018

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

scientific article

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

scientific article

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

scientific article

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

scientific article published on 23 May 2016

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

scientific article published on 01 March 2019

Polymorphic segmental duplication in the nematode Caenorhabditis elegans

scientific article

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

scientific article published on August 2012

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

scientific article published on 22 February 2022

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

scientific article published on 20 December 2018

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

scientific article published on 22 May 2018

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

scientific article published on 30 August 2008

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

scientific article published on 18 March 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

scientific article

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

The genotypic and phenotypic spectrum of PIGA deficiency

scientific article

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

scientific article published on 30 December 2016

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

scientific article published on 23 January 2018

Uncovering Missing Heritability in Rare Diseases

scientific article published on 4 April 2019

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

scientific article published on 22 July 2016

Using RepeatMasker to identify repetitive elements in genomic sequences

scientific article

List of works by 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