List of works - Dorota Monies

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

scientific article

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

scientific article published on 2 December 2012

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

scientific article published on March 26, 2013

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

scientific article published on 9 June 2017

Characterizing the morbid genome of ciliopathies.

scientific article

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

scientific article published on 01 January 2015

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

scientific article published on 23 February 2016

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

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

scientific article

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

scientific article

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

scientific article published on 01 February 2009

Identification of a novel MKS locus defined by TMEM107 mutation

scientific article published on 29 June 2015

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

scientific article published on 6 April 2017

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

scientific 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

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

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

scientific article

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

scientific article published in July 2018

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

scientific article published on 22 November 2016

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

scientific article published on 27 September 2016

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

scientific article published on January 4, 2014

Expanding Phenotypic and Allelic Heterogeneity of Tricho‐Hepato‐Enteric Syndrome

scientific article published on March 1, 2015

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

scientific article

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

scientific article published in May 2018

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

scientific article

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

scientific article published on 21 November 2011

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

scientific article

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

scientific article published on 9 February 2018

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

scientific article

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

Expanding the phenome and variome of skeletal dysplasia.

scientific article published on 5 April 2018

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

scientific article

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

scientific article published on 31 August 2016

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

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

scientific article

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

scientific article published on 11 June 2018

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

scientific article published on 04 March 2019

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

scientific article published on 31 January 2018

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

scientific article published on 4 January 2018

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

scientific article published on 14 February 2019

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

Correction to: Expanding the genetic heterogeneity of intellectual disability.

scientific article published on 29 December 2017

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

article

Identification of a novel genetic locus underlying tremor and dystonia.

scientific article published on 6 November 2017

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

scientific article published on 11 August 2021

List of works by Dorota Monies

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

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

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

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

Characterizing the morbid genome of ciliopathies.

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

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

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

Expanding the genetic heterogeneity of intellectual disability

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

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

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

Identification of a novel MKS locus defined by TMEM107 mutation

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

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

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

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

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

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

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

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

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

Expanding Phenotypic and Allelic Heterogeneity of Tricho‐Hepato‐Enteric Syndrome

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

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

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

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

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

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

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

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

Expanding the phenome and variome of skeletal dysplasia.

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

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

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

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

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

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

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

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

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

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

Correction to: Expanding the genetic heterogeneity of intellectual disability.

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

Identification of a novel genetic locus underlying tremor and dystonia.

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