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List of works by Hans Scheffer

68 LOSS OF HETEROZYGOSITY OF CHROMOSOME 13 IN OSTEOSARCOMA

A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

scientific article published in December 1997

A Cystic Fibrosis Mutation Associated with Mild Lung Disease

scientific article published on 01 July 1995

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 case of neuromuscular mimicry

scientific article

A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter [HGM8 assignment no. D13S12]

scientific article published on May 1986

A giant congenital orbital tumor: An unusual presentation of retinoblastoma

scientific article published on 01 January 1994

A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2 [HGM8 assignment no. D13S22]. ⬇️

scientific article published on January 1987

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

scientific article published on 11 February 2010

A human glioblastoma line with karyotypic nullisomy 13 containing several chromosome 13-specific sequences

scientific article

A natural history study of late onset spinal muscular atrophy types 3b and 4.

scientific article

A novel mutation (G1249R) in exon 20 of the CFTR gene

article

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

scientific article

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

scientific article published on 9 May 2008

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

scientific article

Allele sharing on chromosome 11q13 in sibs with asthma and atopy

scientific article published in The Lancet

Allelic Imbalance Analysis Using a Single-Nucleotide Polymorphism Microarray for the Detection of Bladder Cancer Recurrence

An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs [HGM8 assignment no. D13S11].

scientific article published on April 1986

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

scientific article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Apparent SMA I unlinked to 5q.

scientific article published on March 1994

Association between angiotensin-converting-enzyme gene polymorphism and failure of renoprotective therapy

scientific article published in The Lancet

Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD.

scientific article

Autosomal recessive cerebellar ataxias: the current state of affairs

scientific article published on 19 August 2011

Autosomal recessive inheritance of GLUT1 deficiency syndrome

scientific article published in October 2009

Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.

scientific article

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

scientific article

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

scientific article

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

scientific article

C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

scientific article published on 15 August 2007

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

scientific article

Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma

scientific article published on April 1992

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy

scientific article published on 25 March 2009

Clinical exome sequencing in daily practice: 1,000 patients and beyond

scientific article published on 24 January 2014

Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma

scientific article

Comprehensive and accurate mutation scanning of theCFTR gene by two-dimensional DNA electrophoresis

article

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity

scientific article published in October 2005

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

scientific article

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.

scientific article

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

scientific article published on 07 February 2012

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype

scientific article published on 12 January 2011

Dystrophic Epidermolysis Bullosa Inversa with COL7A1 Mutations and Absence of GDA-J/F3 Protein

EEC syndrome, Arg227GlnTP63 mutation and micturition difficulties: Is there a genotype–phenotype correlation?

scientific article published on 01 May 2007

Ectodermal dysplasia with tetramelic deficiencies and no mutation inp63: Odontotrichomelic syndrome or a new entity?

scientific article published on 01 May 2004

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

scientific article

Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients

article

Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis

scientific article published on 01 April 2000

Expanding the clinical spectrum of MYCN-related Feingold syndrome

scientific article

Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis

scientific article published in November 2006

Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium

scientific article published on September 1990

GLUT1 deficiency with delayed myelination responding to ketogenic diet

scientific article published in August 2007

Gene expression profiling in rheumatoid arthritis: current concepts and future directions

scientific article published on 04 February 2008

Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome

scientific article

Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults

scientific article published in June 2013

Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis

scientific article

Genome-wide association study confirms extant PD risk loci among the Dutch

scientific article

Genotype-phenotype correlations in MYCN-related Feingold syndrome

scientific article

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

scientific article published on 10 September 2012

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

scientific article published on 2 February 2010

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online

scientific article published on 01 January 1999

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart

scientific article

HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study

scientific article published in February 2009

Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations

scientific article published on September 1996

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

scientific article

Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up

scientific article published on 01 October 2003

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

scientific article (publication date: 2004)

Human uteroglobin gene: structure, subchromosomal localization, and polymorphism

scientific article

Identification of Key Recombinants in Multiplex SMA Families

scientific article published on 01 July 1994

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

article

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

scientific article published on August 1997

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

scientific article published in January 2002

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning

scientific article published on 18 February 2010

LINKAGE OF DNA MARKERS ON CHROMOSOME 13 WITH WILSON DISEASE

Linkage analysis in families with hereditary retinoblastoma

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

scientific article published on 01 July 1993

Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease

scientific article

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

scientific article

MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course

scientific article

Massively parallel sequencing of ataxia genes after array-based enrichment

scientific article

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

scientific article published on 27 February 2014

Milder phenotypes of glucose transporter type 1 deficiency syndrome ⬇️

scientific article published on March 24, 2011

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

scientific article

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder

scientific article published in July 2004

Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection

scientific article published on 01 May 1998

Mutational analysis of TARDBP in Parkinson's disease

scientific article

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene

article

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

scientific article published on 9 May 2013

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

Neurophysiologic studies in early-onset cerebellar ataxia

scientific article published on August 2006

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

scientific article

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

scientific article

Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients

scientific article published on 8 May 2013

P.P.4 01 Glyc-O-genetics of Walker–Warburg syndrome and related disorders

article

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

scientific article published in The Lancet

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

scientific article

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

scientific article published on 17 September 2008

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

scientific article

Persistent failures in gene repair

article

Pharmacogenetics of anti-TNF treatment in patients with rheumatoid arthritis

scientific article published on July 2007

Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction

scientific article published on 01 September 1992

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

scientific article published on 16 January 2013

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands

scientific article published in July 1996

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

scientific article published on 2 March 2013

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis

scientific article

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

scientific article published on February 27, 2013

Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis

scientific article

Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I

scientific article published on 01 December 1995

Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country

scientific article published on 01 May 1998

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

scientific article

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

scientific article published on 01 February 2000

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

scientific article published on 10 August 2005

Search for genes predisposing to atopic diseases

scientific article published in The Lancet

Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes

scientific article published in March 2009

Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively

scientific article

Spastin mutations in sporadic adult-onset upper motor neuron syndromes

article

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

scientific article

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

scientific article

The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI.

scientific article published on October 1989

The association between HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia

scientific article published in August 2007

The association between HTR2C polymorphisms and obesity in psychiatric patients using antipsychotics: a cross-sectional study

article by H Mulder et al published 3 October 2006 in The Pharmacogenomics Journal

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol ⬇️

scientific article published on October 1, 1997

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

scientific article published on May 2006

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

scientific article

The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2.

scientific article published on October 1989

The tumour necrosis factor receptor superfamily member 1b 676T>G polymorphism in relation to response to infliximab and adalimumab treatment and disease severity in rheumatoid arthritis

article

Three novel KCNA1 mutations in episodic ataxia type I families

scientific article

Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

scientific article published on 01 September 2000

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

scientific article published on 01 May 1999

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

scientific article published in July 2000

Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashes

scientific article published on 01 March 1996

Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes

article

Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis

scientific article

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

scientific article

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