List of works - Erik-Jan Kamsteeg

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

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

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 10 April 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

scientific article published on 23 March 2017

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

scientific article published on 19 October 2016

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

scientific article published on 18 January 2013

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

scientific article published on 20 July 2018

Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane

scientific article published on February 2002

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

scientific article published in October 2014

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

scientific article

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review

scientific article

Child neurology: differential diagnosis of a low CSF glucose in children and young adults

scientific article published on December 2013

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

scientific article

Clinical utility gene card for: Gitelman syndrome

scientific article published on 23 February 2011

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

scientific article published on 21 May 2012

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal 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

Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity

scientific article published on 22 February 2006

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels

scientific article

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation

scientific article published on 8 April 2009

Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

scientific article published on 24 August 2005

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

MAL decreases the internalization of the aquaporin-2 water channel

scholarly article

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

scientific article published in August 2016

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

scientific article published on 28 January 2013

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

scientific article published on 27 October 2007

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

scientific article

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet

scientific article

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 29 December 2016

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

scientific article published on 01 January 2019

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

scientific article published on 2 March 2013

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients ⬇️

scientific article published on February 27, 2013

RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter

scientific article published on 14 April 2010

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

scientific article

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus

scientific article published in October 2009

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

scientific article published on December 2003

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

scientific article

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

scientific article published on 01 June 2012

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

scientific article (publication date: 28 November 2006)

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

Tetraspan proteins: regulators of renal structure and function

scientific article published on July 2007

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

scientific article published on 17 March 2016

The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunit

scientific journal article

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing

scientific article

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

scientific article published on 29 April 2010

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

scientific article published on 2 September 2016

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

scientific article published in October 2009

List of works by Erik-Jan Kamsteeg

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

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

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review

Child neurology: differential diagnosis of a low CSF glucose in children and young adults

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

Clinical utility gene card for: Gitelman syndrome

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

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

Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation

Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

MAL decreases the internalization of the aquaporin-2 water channel

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients ⬇️

RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

Tetraspan proteins: regulators of renal structure and function

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunit

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.