List of works - Dorota Monies

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

scientific article

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

scientific article published on 27 September 2016

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

scientific article published in December 2011

A null mutation in TNIK defines a novel locus for intellectual disability

scientific article

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

scientific article

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

scientific article published on 01 February 2009

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis

scientific article published on 01 January 2015

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

scientific article

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

scientific article published on 6 April 2017

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

scientific article published in July 2018

CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

scientific article published on 4 January 2018

Characterizing the morbid genome of ciliopathies. ⬇️

scientific article

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

scientific article published on 4 January 2014

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

scientific article

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

scientific article

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

scientific article published on 21 November 2011

Correction to: Expanding the genetic heterogeneity of intellectual disability.

scientific article published on 29 December 2017

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

scientific article published on 8 December 2017

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype

scientific article published on 11 June 2018

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

scientific article published on 11 August 2021

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

article

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

scientific article published on 22 December 2015

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome

scientific article published in March 2015

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

scientific article published on 10 September 2015

Expanding the genetic heterogeneity of intellectual disability

scientific article published on 22 September 2017

Expanding the phenome and variome of skeletal dysplasia.

scientific article published on 5 April 2018

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

scientific article

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

scientific article published on 31 January 2018

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

scientific article

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.

scientific article

Identification of a novel MKS locus defined by TMEM107 mutation

scientific article published on 29 June 2015

Identification of a novel genetic locus underlying tremor and dystonia.

scientific article published on 6 November 2017

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

scientific article published on 04 March 2019

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

scientific article published on 31 August 2016

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

scientific article

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

scientific article published on 14 February 2019

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

scientific article published on 9 February 2018

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

scientific article published on 22 November 2016

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

scientific article published on March 26, 2013

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

scientific article published on 14 November 2017

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

scientific article

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

scientific article published on 9 June 2017

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

scientific article published on 23 February 2016

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

scientific article published in May 2018

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

scientific article

List of works by Dorota Monies

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

A null mutation in TNIK defines a novel locus for intellectual disability

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Characterizing the morbid genome of ciliopathies. ⬇️

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Expanding the genetic heterogeneity of intellectual disability

Expanding the phenome and variome of skeletal dysplasia.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.

Identification of a novel MKS locus defined by TMEM107 mutation

Identification of a novel genetic locus underlying tremor and dystonia.

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families