E. Bakker

E. Bakker, F. Dikkers, M. V. van Egmond, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Somatic mosaicism in FSHD often goes undetected

E. Bakker, R. Frants, R. Lemmers, 2004, Annals of neurology.

New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector

E. Bakker, C. Verellen-Dumoulin, C. Murry, 1999, The Lancet.

Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3

E. Bakker, V. Torres, P. Harris, 2007, Human Genetics.

Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density

A. Uitterlinden, H. Delemarre-van de Waal, E. Bakker, 2016, Hormone Research in Paediatrics.

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

G. Rappold, E. Bakker, M. Losekoot, 2011, The Journal of clinical endocrinology and metabolism.

Methods in Molecular Medicine: Molecular Diagnosis of Genetic Diseases

E. Bakker, 1997 .

Human MutationMETHODS Diagnostic Guidelines for High-Resolution Melting Curve ( HRM ) Analysis : An Interlaboratory Validation of BRCA 1 Mutation Scanning Using the 96-Well LightScannerTM

E. Bakker, G. Matthijs, M. Macek, 2009 .

Diagnostic guidelines for high‐resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96‐well LightScanner™

E. Bakker, G. Matthijs, M. Macek, 2009, Human mutation.

The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B

P. Reitsma, G. Ommen, E. Bakker, 2005, Annals of Hematology.

Haplotypes encoding the factor VIII 1241Glu variation, factor VIII levels and the risk of venous thrombosis

F. Rosendaal, E. Bakker, R. Bertina, 2006, Thrombosis and Haemostasis.

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).

P. Devilee, J. Oosterwijk, E. Bakker, 1996, Journal of medical genetics.

Zygosity determination in newborn twins using DNA variants.

M. Thiéry, P. Pearson, E. Bakker, 1985, Journal of medical genetics.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

R. Vossen, K. Grzeschik, J. D. den Dunnen, 2010, Human mutation.

Non‐invasive prenatal diagnosis of beta‐thalassemia and sickle‐cell disease using pyrophosphorolysis‐activated polymerization and melting curve analysis

E. Bakker, W. Kanhai, E. Boon, 2012, Prenatal diagnosis.

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis

E. Bakker, R. Frants, R. Lemmers, 2001, Annals of neurology.

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

A. Covone, C. Broeckhoven, K. Bushby, 2004, Human Genetics.

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Peter Devilee, Ronald van Eijk, Tamara Peelen, 1997, Nature Genetics.

Extending the p16-Leiden tumour spectrum by respiratory tract tumours

P. Devilee, H. Meijers-Heijboer, A. V. D. van den Ouweland, 2004, Journal of Medical Genetics.

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

C. van Broeckhoven, J. D. den Dunnen, P. Pearson, 1989, Journal of medical genetics.

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome

G. Mortier, G. Rappold, E. Bakker, 2007, European Journal of Human Genetics.

Localization of the polymorphic human calcitonin gene on chromosome 11

P. Pearson, E. Bakker, C. Lips, 2004, Human Genetics.

European registration process for Clinical Laboratory Geneticists in genetic healthcare

T. Liehr, E. Bakker, H. Scheffer, 2017, European Journal of Human Genetics.

Germline mosaicism and Duchenne muscular dystrophy mutations

C. Broeckhoven, P. Pearson, W. Hul, 1987, Nature.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

S. Tapscott, E. Bakker, E. Pegoraro, 2013, American journal of human genetics.

Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.

A. Moorman, J. D. den Dunnen, E. Bakker, 1991, Journal of medical genetics.

Early onset facioscapulohumeral muscular dystrophy

E. Bakker, O. Brouwer, R. R. Frants, 1995, Muscle & nerve. Supplement.

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

E. Bakker, M. Breuning, C. D. de Die-Smulders, 2012, European Journal of Human Genetics.

UvA-DARE ( Digital Academic Repository ) Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period

A. Wilde, A. Wilde, G. van Ommen, 1997 .

Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations.

P. de Knijff, M. Krawczak, L. Roewer, 1996, Human molecular genetics.

Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease

E. Bakker, P. Giordano, C. Harteveld, 2015 .

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

A. Haeringen, E. Bakker, S. Kant, 1997, Journal of medical genetics.

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

J. Houwing-Duistermaat, J. D. den Dunnen, E. Bakker, 2009, Clinical genetics.

A Case of a De Novo A3243G Mutation in Mitochondrial DNA in a Patient with Diabetes and Deafness

P. de Knijff, J. Maassen, L. Hart, 2002, Archives of physiology and biochemistry.

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

D. Swinkels, C. Jaspers, H. Venselaar, 2008, Blood cells, molecules & diseases.

Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed.

E. Bakker, Egbert Bakker, 2006, Clinical chemistry.

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

G. Mortier, E. Conrad, B. Hamel, 1998, American journal of human genetics.

EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004.

E. Bakker, M. Simoni, C. Krausz, 2004, International journal of andrology.

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

H. Tanke, A. Haeringen, E. Bakker, 2007, European Journal of Human Genetics.

Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions.

E. Bakker, G. Matthijs, P. Vogt, 1999, International journal of andrology.

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

C. van Broeckhoven, W. Hul, E. Bakker, 1991, American journal of human genetics.

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

A. Essen, E. Bakker, H. Scheffer, 1997, Journal of medical genetics.

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Helger Yntema, Erika Souche, 2016, European Journal of Human Genetics.

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

H. Willard, L. Kunkel, K. Davies, 1985, The Lancet.

An infrequent DNA polymorphism associated with severe von Willebrand's disease

E. Bakker, E. Briet, K. Caekebeke‐Peerlinck, 1990, British journal of haematology.

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations

P. Hogendoorn, S. White, E. Bakker, 2005, European Journal of Human Genetics.

IMMUNOLOGICAL STUDY OF DYSTROPHIN IN DUCHENNE FETUS

E. Bakker, I. Ginjaar, A. Wessels, 1989, The Lancet.

The DMD gene analysed by field inversion gel electrophoresis.

J. D. den Dunnen, P. Pearson, E. Bakker, 1989, British medical bulletin.

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

E. Bakker, M. Karimi, P. Giordano, 2004, Haematologica.

Association of XmnI (-158 γG) Polymorphism and Response to Hydroxyurea in Omani S/S and S/β Patients

E. Bakker, P. Giordano, C. Harteveld, 2014 .

Calpainopathy-a survey of mutations and polymorphisms.

J. Beckmann, K. Bushby, I. Richard, 1999, American journal of human genetics.

Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21.

P. Devilee, T. Cremer, C. Cornelisse, 1986, Cytogenetics and cell genetics.

Sickle cell anemia and α-thalassemia: a modulating factor in homozygous HbS/S patients in Oman.

E. Bakker, P. Giordano, C. Harteveld, 2014, European journal of medical genetics.

Molecular Spectrum of α-Globin Gene Defects in the Omani Population

E. Bakker, P. Giordano, C. Harteveld, 2014, Hemoglobin.

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

A. Munnich, E. Bakker, P. Kamoun, 1995, American journal of medical genetics.

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

M. Durán, E. Bakker, B. Poll-The, 1997, American journal of medical genetics.

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

P. Pearson, E. Bakker, J. Saris, 1990, Journal of medical genetics.

The human genome project and the future of diagnostics, treatment, and prevention

E. Bakker, G. V. Ommen, J. D. Dunnen, 1999, The Lancet.

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

P. Pearson, E. Bakker, G. van Ommen, 1986, Journal of medical genetics.

Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.

R. Vossen, J. D. den Dunnen, E. Bakker, 2014, Blood cells, molecules & diseases.

Experiences with array-based sequence capture; toward clinical applications

J. D. den Dunnen, Y. Ariyurek, E. Bakker, 2010, European Journal of Human Genetics.

Somatic APC mosaicism: an underestimated cause of polyposis coli

E. Bakker, M. Breuning, H. Vasen, 2007, Gut.

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Helger Yntema, Erika Souche, 2015, European Journal of Human Genetics.

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

A. Ferlini, T. Sejersen, E. Bakker, 2010, Neuromuscular Disorders.

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

J. T. Dunnen, E. Bakker, I. Ginjaar, 2000, European Journal of Human Genetics.

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study

E Bakker, J. Oosterwijk, E. Bakker, 1999, The Lancet.

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.

D. Bentley, A. Covone, C. Junien, 1992, JAMA.

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

G. van Ommen, L. Sandkuijl, J. Oosterwijk, 1997, Human Genetics.

Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.

B. V. van Oost, A. Smits, D. Smeets, 1991, American journal of medical genetics.

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

E. V. van Zwet, E. Bakker, M. Losekoot, 2013, PeerJ.

Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease

T. Visser, E. Bakker, H. K. V. van Amstel, 2009, American journal of medical genetics. Part A.

DGGE‐based whole‐gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

R. Vossen, R. Hofstra, J. D. den Dunnen, 2004, Human mutation.

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.

S. Stringer, C. Waaijer, C. Reijnders, 2010, The American journal of pathology.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Osdilly Giromus, E. Bakker, C. Ruivenkamp, 2010, European journal of medical genetics.

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

J. Schuurs-Hoeijmakers, A. Haeringen, E. Bakker, 2009, European Journal of Human Genetics.

normal parents imbalances present both in affected children and of mentally retarded individuals: clinical significance Array-CGH detection of micro rearrangements in

N. Carter, H. Fiegler, W. Sloos, 2006 .

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

A. Cleton-Jansen, P. Hogendoorn, W. Hul, 1999, American journal of human genetics.

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

E. Bakker, C. Ruivenkamp, M. Breuning, 2011, European journal of medical genetics.

Mosaicism with a normal cell line and an unbalanced autosomal reciprocal translocation ; three new cases and review of the literature

Ende, E. Bakker, M. Breuning, 2010 .

Mrassf1a-Pap, a Novel Methylation-Based Assay for the Detection of Cell-Free Fetal DNA in Maternal Plasma

D. Oepkes, E. Bakker, P. A. van der Velden, 2013, PloS one.

A protein truncation test for Emery–Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations

J. D. Dunnen, E. Bakker, J. Yates, 1999, Neuromuscular Disorders.

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis

E. Bakker, M. Breuning, R. Almomani, 2009, Neuromuscular Disorders.

X‐chromosome duplications in males with mental retardation: pathogenic or benign variants?

E. Bakker, C. Ruivenkamp, A. van Haeringen, 2011, Clinical genetics.

Fine‐tiling array CGH to improve diagnostics for α‐ and β‐thalassemia rearrangements

J. D. den Dunnen, Y. Ariyurek, E. Bakker, 2012, Human mutation.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

E. Bakker, Y. Hilhorst‐Hofstee, L. Laan, 2007, European journal of medical genetics.

Location on the Human Genetic Linkage Map of 26 Genes Involved in Blood Coagulation

P. Reitsma, E. Bakker, R. Bertina, 1997, Thrombosis and Haemostasis.

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

M. Wapenaar, G. Ommen, P. Pearson, 1985, Human Genetics.

Disease Somatic Triple Mosaicism in a Carrier of X-Linked Chronic Granulomatous

E. Bakker, D. Roos, M. Boer, 2012 .

Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.

E. Bakker, M. de Boer, D. Roos, 1998, Blood.

Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28.

B. V. van Oost, D. Callen, E. Bakker, 1991, American journal of medical genetics.

Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

E. Bakker, P. Giordano, C. Harteveld, 2014, International journal of environmental research and public health.

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

J. D. den Dunnen, M. Wapenaar, L. Blonden, 1989, Nucleic acids research.

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

J. D. Dunnen, P. Pearson, E. Bakker, 1987, Nature.

New polymorphic DNA marker close to the fragile site FRAXA.

B. Wieringa, A. Smits, E. Bakker, 1990, Genomics.

242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.

C. van Broeckhoven, J. D. den Dunnen, M. Bobrow, 1991, Genomics.

Duchenne and Becker muscular dystrophy.

E. Bakker, I. Ginjaar, A. Kneppers, 2020, Methods in molecular medicine.

Point mutation screening for 16 exons of the dystrophin gene by multiplex single‐strand conformation polymorphism analysis

E. Bakker, J. Dunnen, G. Van, 1995, Human mutation.

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

K. Davies, M. Passos-Bueno, M. Zatz, 1993, American journal of medical genetics.

Population-based incidence and prevalence of facioscapulohumeral dystrophy

A. Verbeek, B. V. van Engelen, E. Bakker, 2014, Neurology.

A 400 kb duplication , 2 . 4 Mb triplication and 130 kb duplication of 9 q 34 . 3 in a patient with severe mental retardation

E. Bakker, C. Ruivenkamp, M. Weiss, 2010 .

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

E. Bakker, C. Ruivenkamp, M. Weiss, 2008, European journal of medical genetics.

CHAPTER 6 Deficiency of the centrosomal protein CEP 170 is associated with microcephaly

E. Bakker, J. Dorsman, S. Piersma, 2015 .

Dna analysis of brazilian duchenne muscular dystrophy families using ( ca ) n microsatellite markers

E. Bakker, A. Kneppers, D. N. Falcão-Conceição, 1994 .

Prenatal diagnosis of Duchenne muscular dystrophy: A three-year experience in a rapidly evolving field

G. Ommen, P. Pearson, E. Bakker, 1989, Journal of Inherited Metabolic Disease.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

Duchenne muscular dystrophy

J. Gilbert, M. Pericak-Vance, R. Bartlett, 1988, Neurology.

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

J. D. den Dunnen, M. Passos-Bueno, M. Zatz, 1992, American journal of human genetics.

The FSHD‐linked locus D4F104S1 (p13E‐11) ON 4q35 has a homologue on 10qter

C. Wijmenga, R. Vossen, E. Bakker, 1995, Muscle & nerve. Supplement.

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases

R. M. Van den Berg-Vos, E. Bakker, J. Wokke, 2000, Journal of neurology, neurosurgery, and psychiatry.

A deletion hot spot in the Duchenne muscular dystrophy gene.

J. D. den Dunnen, M. Wapenaar, M. Bobrow, 1988, Genomics.

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.

C. Bertelson, L. Kunkel, J. D. den Dunnen, 1987, Genomics.

Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees.

P. de Knijff, E. Heyer, J. Puymirat, 1997, Human molecular genetics.

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.

J. D. den Dunnen, F. Hogervorst, E. Bakker, 1996, Journal of medical genetics.

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

S. Warren, A. V. D. van den Ouweland, B. Oostra, 1997, Journal of medical genetics.

Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review

E. Bakker, M. Weiss, M. Breuning, 2007, European Journal of Human Genetics.

Successful noninvasive trisomy 18 detection using single molecule sequencing.

R. Sinke, E. Bakker, B. Sikkema-Raddatz, 2013, Clinical chemistry.

Toward health technology assessment of whole-genome sequencing diagnostic tests: challenges and solutions.

Martin Eden, Katherine Payne, K. Payne, 2017, Personalized medicine.

Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentromeric heterochromatin of chromosomes 13, 21 and 18

P. Devilee, T. Cremer, P. Pearson, 1986 .

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

Copy Number Variants in Short Children Born Small for Gestational Age

J. Baron, J. Lui, G. Binder, 2014, Hormone Research in Paediatrics.

Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation

E. Bakker, J. Smeitink, A. Reuser, 1996, Clinical genetics.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

G. V. Ommen, J. T. Dunnen, M. Passos-Bueno, 1998, Neuromuscular Disorders.

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

K. Campbell, M. Passos-Bueno, M. Zatz, 1993, Human molecular genetics.

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

A. Moorman, C. Bönnemann, E. Bakker, 1997, Neuromuscular Disorders.

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

K. Bushby, T. Strachan, M. Passos-Bueno, 1996, Journal of medical genetics.

DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases

E. Bakker, J. D. Vijlder, M. Visser, 1989, Human Genetics.

Original articles Immunohistochemical studies showtruncated dystrophins inthemyotubes ofthree fetuses atrisk forDuchenne muscular dystrophy

E. Bakker, G. V. Ommen, I. Ginjaar, 1991 .

Detection of truncated dystrophin in fetal DMD myotubes.

K. Fischbeck, A. Moorman, J. D. den Dunnen, 1990, Advances in experimental medicine and biology.

Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.

M. Passos-Bueno, E. Bakker, M. Vainzof, 1995, Genomics.

Two Genes Homologous with Human Protein S cDNA Are Located on Chromosome 3

P. Reitsma, E. Bakker, R. Bertina, 1987, Thrombosis and Haemostasis.

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

J. Vermeesch, M. Krawczak, E. Bakker, 2012, European Journal of Human Genetics.

Broader Spectrum of β-Thalassemia Mutations in Oman: Regional Distribution and Comparison with Neighboring Countries

E. Bakker, P. Giordano, C. Harteveld, 2015, Hemoglobin.

After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

J. Oosterwijk, E. Bakker, F. Petrij, 2013, Public Health Genomics.

Basic haemoglobinopathy diagnostics in Dutch laboratories; providing an informative test result

E. Bakker, J. Smit, P. Giordano, 2013, International journal of laboratory hematology.

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

E. Bakker, I. Ginjaar, M. de Visser, 2005, Neurology.

Pre‐ and postsynaptic neuromuscular junction abnormalities in musk myasthenia

J. Verschuuren, E. Bakker, J. Wokke, 2010, Muscle & nerve.

Known and New δ-Globin Gene Mutations and Other Factors Influencing Hb A2 Measurement in the Omani Population

E. Bakker, P. Giordano, C. Harteveld, 2014, Hemoglobin.

Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect

E. Bakker, M. Breuning, D. Peters, 2002, Journal of medical genetics.

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

E. Bakker, R. Hennekam, M. Losekoot, 1998, Human mutation.

Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination

E. Bakker, P. Pearson, 1986, Clinical genetics.

Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.

J. D. den Dunnen, M. van Iterson, D. Oepkes, 2012, Clinical chemistry.

Huntington's disease in Saudi Arabia.

R. Roos, E. Bakker, M. Losekoot, 1995, Journal of medical genetics.

“False positive” or true paternity: Investigating one or two STR mismatches by detailed SNP analyses

T. Sijen, E. Bakker, P. Knijff, 2008 .

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

I. Touitou, E. Bakker, M. Kriek, 2008, European Journal of Human Genetics.

A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

L. Sandkuijl, E. Bakker, R. Frants, 1999, Journal of medical genetics.

UvA-DARE ( Digital Academic Repository ) Calpainopathy : a survey of mutations and polymorphisms

J. Beckmann, K. Bushby, I. Richard, 1999 .

Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

A. Zwinderman, K. Heimdal, P. Møller, 1998, The New England journal of medicine.

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

H. Willard, L. Kunkel, K. Davies, 1985, The Lancet.

Denaturing and non-denaturing gel electrophoresis as methods for the detection of junctional diversity in rearranged T cell receptor sequences.

B. de Geus, E. Bakker, J. Rozing, 1995, Journal of immunological methods.

First‐trimester prenatal diagnosis in twin pregnancies

J. Oosterwijk, E. Bakker, R. Stigter, 1994, Prenatal diagnosis.

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

E. Bakker, R. Frants, J. Hewitt, 1998, Human molecular genetics.

A Subtle Familial Translocation t(3;21)(p26.3;q22.3): An Apparently Healthy Boy with a 3p Deletion and 21q Duplication

A. Haeringen, E. Bakker, C. Ruivenkamp, 2010, Cytogenetic and Genome Research.

Chapter 4 . 2 A subtle familial translocation t ( 3 ; 21 ) ( p 26 . 3 ; q 22 . 3 ) : apparently healthy boy with a 3 p deletion and 21 q duplication

A. Haeringen, E. Bakker, K. Hansson, 2010 .

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

G. van Ommen, R. D. de Haan, P. Jongen, 1996, Brain : a journal of neurology.

Facioscapulohumeral muscular dystrophy in the dutch population

C. Wijmenga, L. Sandkuijl, E. Bakker, 1995, Muscle & nerve. Supplement.

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.

E. Bakker, R. Frants, J. V. van Deutekom, 1996, Human molecular genetics.

Fetal dystrophin to diagnose carrier status

A. Haeringen, E. Bakker, I. Ginjaar, 1991, The Lancet.

EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004.

E. Bakker, M. Simoni, C. Krausz, 2004, International journal of andrology.

DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy

E. Bakker, 2001 .

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

B. Plougastel, E. Bakker, V. Blanquet, 1992, Genomics.

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma.

E. Bakker, N. van der Stoep, E. Boon, 2015, The Journal of molecular diagnostics : JMD.

Emerging Technologies, Need for Quality Assessment

Egbert Bakker, E. Bakker, 2010 .

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients

J. T. Dunnen, E. Bakker, C. Straathof, 2010, Neuromuscular Disorders.

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

N. Muntjewerff, E. Bakker, I. B. Mathijssen, 2015, Prenatal diagnosis.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Osdilly Giromus, E. Bakker, C. Ruivenkamp, 2010, European journal of medical genetics.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

S. Tapscott, E. Bakker, E. Pegoraro, 2013, American journal of human genetics.

sn54QThr ubstitution in the Fibroblast Growth eceptor 3 Tyrosine Causing Hypochondroplasia

E. Bakker, M. Losekoot, C. Aalfs, 1998 .

X‐chromosome duplications in males with mental retardation: pathogenic or benign variants?

E. Bakker, C. Ruivenkamp, A. van Haeringen, 2011, Clinical genetics.