E. Kamsteeg

发表

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

H. J. Schelhaas, S. de Bot, B. P. Van de Warrenburg, 2012, Brain : a journal of neurology.

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

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

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

L. Vissers, R. Pfundt, M. Reijnders, 2016, Nature Neuroscience.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

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

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

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

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in Medicine.

Defective Processing and Trafficking of Water Channels in Nephrogenic Diabetes insipidus

P. Deen, C. van Os, E. Kamsteeg, 2000, Nephron Experimental Nephrology.

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

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

L. H. van den Berg, J. Veldink, W. D. den Dunnen, 2012, Brain : a journal of neurology.

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

E. Kamsteeg, J. F. de Rijk-van Andel, I. M. van de Laar, 2021, Child neurology open.

An impaired routing of wild‐type aquaporin‐2 after tetramerization with an aquaporin‐2 mutant explains dominant nephrogenic diabetes insipidus

P. Deen, C. van Os, E. Kamsteeg, 1999, The EMBO journal.

The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

P. Deen, C. van Os, E. Kamsteeg, 2000, The Journal of cell biology.

Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus

P. Deen, C. van Os, E. Kamsteeg, 2001, Pflügers Archiv.

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

D. Bichet, P. Deen, C. van Os, 2003, The Journal of cell biology.

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

L. Marner, L. Møller, E. Kamsteeg, 2016, The Cerebellum.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

M. Roberts, B. Engelen, F. Muntoni, 2013, Neuromuscular Disorders.

B. Engelen, H. Scheffer, B. Küsters, 2015, European journal of neurology.

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

G. Hendriks, M. Boone, P. Deen, 2006, Proceedings of the National Academy of Sciences.

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

P. Deen, R. Hoover, E. Kamsteeg, 2010, American journal of physiology. Renal physiology.

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

Qiuyun Chen, E. Kamsteeg, M. Willemsen, 2018, European Journal of Human Genetics.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

J. Rendu, P. Laforêt, J. Vissing, 2018, Acta neurologica Scandinavica.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

R. Pfundt, J. Verhoeven, H. Brunner, 2018, Epilepsia.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

L. Vissers, C. Gilissen, E. Kamsteeg, 2020, medRxiv.

The complexities of CACNA1A in clinical neurogenetics

B. P. Van de Warrenburg, H. van Bokhoven, E. Kamsteeg, 2021, Journal of Neurology.

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

M. Ekker, C. Ross, W. Wasserman, 2019, Brain : a journal of neurology.

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

N. Voermans, E. Kamsteeg, H. Jungbluth, 2020, Neuromuscular Disorders.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

L. Vissers, J. Veltman, T. Kleefstra, 2016, Journal of Genetic Counseling.

MAL decreases the internalization of the aquaporin-2 water channel

P. Pagel, M. Caplan, P. Deen, 2007, Proceedings of the National Academy of Sciences.

Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency

F. V. van Ittersum, M. Verbeek, R. Wevers, 2020, Journal of inherited metabolic disease.

Physiological relevance of aquaporins: luxury or necessity?

P. Deen, C. van Os, E. Kamsteeg, 2000, Pflügers Archiv.

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

C. Gilissen, S. de Bot, B. P. Van de Warrenburg, 2016, European Journal of Human Genetics.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

Drosophila equilibrative nucleoside transporter , a DmENT2 and functional characterization of Genomic analysis of nucleoside transporters in Diptera

M. Charlton, H. Bokhoven, T. Roscioli, 2015 .

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

L. Schöls, O. Riess, M. Synofzik, 2019, Parkinsonism & related disorders.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

L. Vissers, R. Pfundt, M. Nelen, 2022, Genome medicine.

KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

S. Arold, E. Kamsteeg, M. Alfadhel, 2018, American journal of medical genetics. Part A.

Loss‐of‐function mutation in RUSC2 causes intellectual disability and secondary microcephaly

A. Mahmoud, E. Kamsteeg, M. Alfadhel, 2016, Developmental medicine and child neurology.

Nephrogenic diabetes insipidus.

B. W. van Balkom, P. Deen, E. Kamsteeg, 2000, Current opinion in nephrology and hypertension.

GLUT1 deficiency syndrome into adulthood: a follow-up study

B. P. Warrenburg, M. Verbeek, E. Kamsteeg, 2014, Journal of Neurology.

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

P. Sluijs, G. Hendriks, P. Deen, 2008, Pflügers Archiv - European Journal of Physiology.

Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity.

E. Kamsteeg, P. Deen, 2001, Biochemical and biophysical research communications.

Routing of the aquaporin-2 water channel in health and disease.

B. W. van Balkom, P. Deen, E. Kamsteeg, 2000, European journal of cell biology.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

M. Ferrari, J. Duncan, H. Scheffer, 2015, Cephalalgia : an international journal of headache.

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

D. Zafeiriou, B. Weschke, A. Mégarbané, 2010, Brain : a journal of neurology.

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

B. P. Warrenburg, M. Verbeek, E. Kamsteeg, 2013, Movement disorders : official journal of the Movement Disorder Society.

Tetraspan proteins: regulators of renal structure and function

M. Caplan, A. Duffield, E. Kamsteeg, 2007, Current opinion in nephrology and hypertension.

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

Richard D Emes, A. Hoischen, P. Scambler, 2013, Journal of Medical Genetics.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

B. V. van Bon, J. Veltman, M. Verbeek, 2017, European Journal of Human Genetics.

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa

B. Hamel, E. Kamsteeg, M. Dekker, 2020, Tremor and other hyperkinetic movements.

Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.

E. Kamsteeg, M. Willemsen, J. Nicolai, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

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

J. Ziegler, S. Tangye, J. Church, 2012, The Journal of allergy and clinical immunology.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

D. Grozeva, Hiromi Hirata, R. Guerreiro, 2022, Movement disorders : official journal of the Movement Disorder Society.

Clinical exome sequencing—Mistakes and caveats

R. Pfundt, S. Smeekens, M. Nelen, 2022, Human mutation.

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

N. Drouot, A. Durr, M. Koenig, 2014, JAMA neurology.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

N. Brown, B. D. de Vries, W. Chung, 2021, American journal of medical genetics. Part A.

RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia.

F. van Petegem, N. Voermans, E. Kamsteeg, 2021, British journal of anaesthesia.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

P. Praamstra, B. P. Van de Warrenburg, E. Kamsteeg, 2020, Parkinsonism & related disorders.

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

J. Veldink, B. P. Warrenburg, H. Scheffer, 2013, Journal of Neurology.

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

C. Saris, B. V. van Engelen, D. Barge-Schaapveld, 2019, Journal of neuromuscular diseases.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

H. J. Schelhaas, B. P. Warrenburg, M. Knaap, 2013, European Journal of Human Genetics.

Child Neurology: Maternal Transmission of Congenital Myotonic Dystrophy Type 2: Case Report.

N. Voermans, A. Tieleman, E. Kamsteeg, 2022, Neurology.

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.

E. Fliers, D. Swaab, E. Endert, 2011, European journal of endocrinology.

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

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

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

P. Deen, A. Vandewalle, E. Kamsteeg, 2006, Journal of the American Society of Nephrology : JASN.

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

R. Pfundt, L. Hoefsloot, N. Knoers, 2011, European Journal of Human Genetics.

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

B. P. Warrenburg, H. Scheffer, H. Kremer, 2013, Journal of Neurology.

Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.

P. Deen, E. Kamsteeg, P. Deen, 2000, American journal of physiology. Renal physiology.

special communication Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus

E. Kamsteeg, P. Deen, 2000 .

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

N. Voermans, E. Kamsteeg, D. Lederer, 2017, Genetics in Medicine.

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

K. Dahan, O. Devuyst, N. Knoers, 2015, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

C. Cremers, J. Cruysberg, N. Knoers, 2010, The Annals of otology, rhinology, and laryngology.

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

F. Muntoni, L. Santoro, J. Vissing, 2022, Brain communications.

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

R. Rodenburg, M. Adjobo-Hermans, P. Willems, 2022, bioRxiv.

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

N. Voermans, V. Biancalana, E. Kamsteeg, 2017, Journal of neuromuscular diseases.

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly

E. Kamsteeg, J. Nicolai, S. Sallevelt, 2021, Neurology: Genetics.

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands

B. V. van Engelen, N. Voermans, E. Kamsteeg, 2021, Clinical genetics.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

A. Laquérriere, N. Romero, R. Carlier, 2017, Acta Neuropathologica.

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

M. Jennings, B. W. van Balkom, M. Caplan, 2002, American journal of physiology. Renal physiology.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Anaesthesia and neuromuscular disorders: what a neurologist needs to know

N. Voermans, E. Kamsteeg, H. Jungbluth, 2020, Practical Neurology.

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

P. van der Sluijs, P. Deen, E. Kamsteeg, 2009, Human mutation.

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

D. MacArthur, M. Lek, N. Clarke, 2016, Neurology.

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

D. Bichet, P. Deen, P. van der Sluijs, 2004, Human molecular genetics.

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

E. Speel, C. Stumpel, E. Kamsteeg, 2016, Fetal and pediatric pathology.

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

J. Verhoeven, H. Braakman, E. Kamsteeg, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

M. Verbeek, H. Scheffer, R. Wevers, 2013, JAMA neurology.

Autosomal recessive inheritance of GLUT1 deficiency syndrome.

H. Scheffer, T. Ben-Omran, E. Kamsteeg, 2009, Neuropediatrics.

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

R. Rodenburg, E. Kamsteeg, J. Cobben, 2018, Molecular genetics and metabolism reports.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Jun Z. Li, Catherine A. Collins, N. Brüggemann, 2018, Annals of neurology.

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Carel Meijers, Misha Angrist, Aravinda Chakravarti, 1996, Nature Genetics.

At Physiological Expression Levels the Kidd Blood Group/Urea Transporter Protein Is Not a Water Channel*

P. Deen, J. Cartron, P. Ripoche, 1999, The Journal of Biological Chemistry.

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

P. Sluijs, D. Bichet, P. Deen, 1998, The Journal of clinical investigation.

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self‐Healing Collodion Baby

R. González-Sarmiento, E. Kamsteeg, A. Torrelo, 2016, Pediatric dermatology.

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

N. Voermans, E. Kamsteeg, H. Jungbluth, 2015, Neuromuscular Disorders.

DTYMK is essential for genome integrity and neuronal survival

H. Brunner, R. Rodenburg, C. Ferreira, 2021, Acta Neuropathologica.

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

Philipp Pagel, P. Pagel, M. Caplan, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

K. Bötzel, R. Jech, B. Haslinger, 2020, Annals of neurology.

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

M. Nelen, H. Scheffer, K. Neveling, 2015, Clinical chemistry.

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

L. Vissers, R. Pfundt, M. Reijnders, 2016, bioRxiv.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

D. Misceo, D. Schneidman-Duhovny, J. Duncan, 2020, bioRxiv.

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

S. Antonarakis, E. Falconnet, H. Bellen, 2019, American journal of human genetics.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.

H. van Bokhoven, N. Voermans, G. Tasca, 2019, Clinical chemistry.

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

Gert Jan van der Wilt, Janneke Grutters, Han G Brunner, 2017, Genetics in Medicine.

Clinical utility gene card for: Gitelman syndrome

O. Devuyst, N. Knoers, E. Kamsteeg, 2011, European Journal of Human Genetics.

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

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

S. Züchner, R. Schüle, A. Schenck, 2018, Brain : a journal of neurology.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

Fever‐induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene

B. Engelen, L. Kluijtmans, N. Voermans, 2014, Internal medicine journal.

Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.

A. Bjorksten, E. Kamsteeg, P. Hopkins, 2022, British journal of anaesthesia.

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

J. Holton, B. Küsters, N. Voermans, 2019, Journal of Neurology.

“Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies

N. Voermans, E. Kamsteeg, H. Jungbluth, 2016, Cell Biochemistry and Biophysics.

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

M. van der Burg, G. Mancini, E. Kamsteeg, 2020, Pediatric neurology.

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

H. Brunner, I. Martins, P. Coutinho, 2012, Genetics in Medicine.

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

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

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

S. Dib-Hajj, S. Waxman, P. Praamstra, 2015, Journal of Medical Genetics.

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

L. Vissers, J. Hardy, C. Davies, 2016, American journal of human genetics.

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

G. Rouleau, Eunjoon Kim, T. Kleefstra, 2015, Human mutation.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

R. Pfundt, G. Carvill, I. Scheffer, 2018, Annals of neurology.

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

N. van Alfen, B. Chung, E. Kamsteeg, 2018, Neuromuscular Disorders.

Child Neurology: Differential diagnosis of a low CSF glucose in children and young adults

M. Verbeek, B. V. van Engelen, R. Wevers, 2013, Neurology.

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

R. Rodenburg, G. Bassez, B. V. van Engelen, 2020, Brain : a journal of neurology.

Brody syndrome: A clinically heterogeneous entity distinct from Brody disease A review of literature and a cross-sectional clinical study in 17 patients

B. Engelen, L. V. D. Heuvel, G. Drost, 2012, Neuromuscular Disorders.

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

M. Tijssen, D. Sival, E. Kamsteeg, 2020, European Journal of Human Genetics.

Neuromuscular Features in XL-MTM Carriers

N. Voermans, E. Kamsteeg, H. Jungbluth, 2022, Neurology.

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers

C. Bönnemann, A. Foley, N. Voermans, 2021, Neurology.

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis

N. van Alfen, B. V. van Engelen, N. Voermans, 2022, Brain communications.

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

T. Irving, L. Medne, C. Ottenheijm, 2021, The Journal of clinical investigation.

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

B. Engelen, J. Custers, N. Voermans, 2019, Neuromuscular Disorders.

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

B. Engelen, F. Muntoni, N. Voermans, 2013, Journal of Neurology.

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

W. Halliday, K. Buysse, D. Stemple, 2013, Human molecular genetics.

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

C. Bönnemann, T. Lehky, H. Lochmüller, 2020, American journal of medical genetics. Part A.

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

T. Crawford, F. Muntoni, R. Weiss, 2015, Human mutation.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

N. van Alfen, H. Smeets, B. V. van Engelen, 2021, BMC Neurology.

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

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

B. D. de Vries, C. Saris, L. H. van den Berg, 2019, European Journal of Human Genetics.

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

J. Verhoeven, L. Speth, C. Stumpel, 2019, Neuropediatrics.

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

N. de Leeuw, E. Sistermans, E. Peeters, 2008, Clinical genetics.

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

A. Wilde, B. Engelen, G. Drost, 2018, Neuromuscular Disorders.

Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood

T. Bast, R. Wevers, E. Kamsteeg, 2012, Neuropediatrics.

Clinical utility gene card for

O. Devuyst, N. Knoers, E. Kamsteeg, 2011 .

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

R. Pfundt, N. de Leeuw, C. Gilissen, 2023, European Journal of Human Genetics.

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

C. Saris, G. Meola, K. Jurkat-Rott, 2017, Neuromuscular Disorders.

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

P. Van der valk, E. Kamsteeg, J. V. van Wijk, 2012, Clinical nephrology.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

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

M. Schwartz, B. V. van Engelen, H. Scheffer, 2012, European Journal of Human Genetics.

Best Practice Guidelines and Recommendations on Myotonic Dystrophy types 1 and 2 EMQN Best Practice Meeting , 31 October 2008 , Nijmegen , The Netherlands

B. Engelen, M. Schwartz, H. Scheffer, 2010 .

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

A. Durr, C. Depienne, A. Brice, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

G. Tamma, P. Deen, E. Kamsteeg, 2009, Human mutation.

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation.

H. C. Stronks, B. W. van Balkom, G. Hendriks, 2009, Journal of the American Society of Nephrology : JASN.

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

P. Deen, P. van der Sluijs, E. Kamsteeg, 2005, Journal of the American Society of Nephrology : JASN.

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

A. Hoischen, N. Drouot, J. Veltman, 2010, American journal of human genetics.

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

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Genotype-phenotype correlations of KIF5A stalk domain variants

L. H. van den Berg, M. V. van Es, J. Veldink, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

O. Suchowersky, G. Rouleau, S. Ashtiani, 2019, European journal of medical genetics.

De novo SPAST mutations may cause a complex SPG4 phenotype.

E. Brilstra, E. Kamsteeg, M. Willemsen, 2019, Brain : a journal of neurology.

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers

C. Bönnemann, N. Voermans, E. Kamsteeg, 2021, Neurology.

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

R. Hennekam, T. Roscioli, R. Lindeman, 2009, Human molecular genetics.

A brother and sister with intellectual disability and characteristic neuroimaging findings.

M. S. van der Knaap, E. Kamsteeg, M. Willemsen, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

R. Lea, T. Bird, S. Mossman, 2013, Journal of Neurology.

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

H. Houlden, P. Syrris, B. Küsters, 2022, Journal of the American Heart Association.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

A. Schenck, E. Kamsteeg, Ilse Eidhof, 2020, Brain.

Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

E. Kamsteeg, S. D. de Bot, B. V. D. van de Warrenburg, 2017, Brain : a journal of neurology.

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

R. Pfundt, N. Alfen, A. Beggs, 2012, Neuromuscular Disorders.

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

Philipp Pagel, Erik-Jan Kamsteeg, P. Pagel, 2003, Proceedings of the National Academy of Sciences of the United States of America.

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

Bart P C van de Warrenburg, Erik-Jan Kamsteeg, E. Kamsteeg, 2016, Pediatric neurology.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

M. Topf, M. Heys, M. Kurian, 2023, Cells.

Respiratory features of centronuclear myopathy in the Netherlands

N. Cobben, P. Wijkstra, N. Voermans, 2023, Neuromuscular Disorders.

Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.

R. Helmich, E. Kamsteeg, M. Willemsen, 2020, Parkinsonism & related disorders.

Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.

E. Kamsteeg, N. Verbeek, R. Derks, 2023, Movement disorders : official journal of the Movement Disorder Society.

Genetic characterization of primary lateral sclerosis

L. H. van den Berg, M. V. van Es, J. Veldink, 2023, Journal of Neurology.

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia

B. Kremer, J. D. de Vries, R. van de Berg, 2022, Journal of Neurology.

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC

K. Claeys, R. Kley, N. Voermans, 2017, Neuromuscular Disorders.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing

N. Voermans, E. Kamsteeg, H. Jungbluth, 2022, Anesthesiology.

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility

N. van Alfen, B. V. van Engelen, N. Voermans, 2023, Journal of neuromuscular diseases.

Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.

A. Vincent, B. Eymard, B. Jacobs, 2022, Journal of neuromuscular diseases.

Respiratory features of centronuclear myopathy in the Netherlands

N. Cobben, P. Wijkstra, N. Voermans, 2023, Neuromuscular Disorders.

N. van Alfen, B. V. van Engelen, N. Voermans, 2023, Neurology: Genetics.

Expression of Tetraspan Protein CD63 Activates Protein-tyrosine Kinase (PTK) and Enhances the PTK-induced Inhibition of ROMK Channels*

M. Caplan, H. Sterling, Wen‐Hui Wang, 2008, Journal of Biological Chemistry.

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

B. Eymard, N. Voermans, L. Eshuis, 2022, Journal of neuromuscular diseases.

Diagnostic struggles in congenital myasthenic syndromes in children

N. Alfen, E. Kamsteeg, C. Erasmus, 2014, Journal of Pediatric Neurology.

De novo BK channel mutation causes epilepsy by regulating voltage-dependent, but not calcium-dependent, activation

Qiuyun Chen, E. Kamsteeg, M. Willemsen, 2017, bioRxiv.

An E280K Missense Variant in KCND3/Kv4.3—Case Report and Functional Characterization

H. Brunner, E. Kamsteeg, M. Paucar, 2023, International journal of molecular sciences.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

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

C. Gilissen, H. Scheffer, S. Vermeer, 2017, European Journal of Human Genetics.

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

Qiuyun Chen, E. Kamsteeg, M. Willemsen, 2018, European Journal of Human Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

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

D. Grozeva, H. Bergman, D. Arkadir, 2016, Nature Genetics.

Immune deficiencies , infection , and systemic immune disorders Clinical , molecular , and cellular immunologic findings in patients with SP 110-associated veno-occlusive disease with immunodeficiency syndrome

J. Ziegler, S. Tangye, J. Church, 2012 .

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype

R. Wadman, E. Kamsteeg, Katarzyna Robaszkiewicz, 2023, International journal of molecular sciences.

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.

J. Lupski, H. Bellen, J. Fock, 2022, Human molecular genetics.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

N. Brown, B. D. de Vries, W. Chung, 2022, American journal of medical genetics. Part A.

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

T. Kleefstra, B. V. van Engelen, H. Houlden, 2012, Journal of the peripheral nervous system : JPNS.

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

D. Bichet, P. Deen, C. van Os, 2003, The Journal of cell biology.

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

A. Hoischen, R. Pfundt, C. Gilissen, 2023, Nature communications.

Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood

T. Bast, R. Wevers, E. Kamsteeg, 2012, Neuropediatrics.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)

D. Grozeva, H. Bergman, D. Arkadir, 2017 .

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

L. Vissers, R. Pfundt, M. Nelen, 2024, Frontiers in genetics.

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

C. Gilissen, H. Scheffer, S. Vermeer, 2016, European Journal of Human Genetics.

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

L. Vissers, R. Pfundt, C. Gilissen, 2023, European journal of human genetics : EJHG.

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

K. Dahan, O. Devuyst, N. Knoers, 2015, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.