List of works - Dorien Lugtenberg

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.

scientific article

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

scientific article

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

scientific article published on 21 November 2017

Arts syndrome is caused by loss-of-function mutations in PRPS1

scientific article

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

scientific article

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

scientific article

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

scientific article published on 23 February 2018

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls

scientific article published in July 2011

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

scientific article

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

scientific article

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

scientific article

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scholarly article published in European Journal of Human Genetics

Genotype-phenotype correlations in MYCN-related Feingold syndrome

scientific article

High-resolution genomic microarrays for X-linked mental retardation.

scientific article

Identity of the RNase MRP- and RNase P-associated Th/To autoantigen

scientific article published on 01 December 2002

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series

scientific article published on 22 August 2019

Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency.

scientific article published on 28 March 2018

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

scientific article published in February 2007

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

scientific article published in March 2012

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

scientific article published in November 2017

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

scientific article published on 18 September 2018

Neurologic aspects of MECP2 gene duplication in male patients

scientific article published in September 2009

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

scientific article published on 25 May 2016

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scientific article

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

scientific article published on 21 November 2020

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

scientific article published on 01 July 2018

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

scientific article published on 11 August 2017

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

scientific article published on 01 February 2009

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

scientific article

List of works by Dorien Lugtenberg

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Arts syndrome is caused by loss-of-function mutations in PRPS1

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Genotype-phenotype correlations in MYCN-related Feingold syndrome

High-resolution genomic microarrays for X-linked mental retardation.

Identity of the RNase MRP- and RNase P-associated Th/To autoantigen

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series

Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

Neurologic aspects of MECP2 gene duplication in male patients

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation