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List of works by Robert Hofstra

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

article

A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis

scientific article

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

scientific article published on 05 November 2020

A database to support the interpretation of human mismatch repair gene variants

scientific article

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

scientific article

A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)

scientific journal article

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

scientific article

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

scientific article published on January 2000

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

scientific article

A new perspective on transcriptional system regulation (TSR): towards TSR profiling.

scientific article

A novel MSH2 germline mutation in a Druze HNPCC family

scientific article published on 29 July 2007

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

scientific article

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

scientific article published in July 2006

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

scientific article

A role for MLH3 in hereditary nonpolyposis colorectal cancer

scientific article

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

article

A substantial proportion of microsatellite-unstable colon tumors carryTP53 mutations while not showing chromosomal instability

article

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

scientific article (publication date: 15 March 2002)

Absence of mutations in the RET gene in acute myeloid leukemia

article

Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.

scientific article published on May 2003

Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?

scientific article published on 01 December 2000

An updated and upgraded L1CAM mutation database

scientific article published in January 2010

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

scientific article

Assessment of functional effects of unclassified genetic variants

scientific article

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

scientific article

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes

article

Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

scientific article

Brush border myosin Ia inactivation in gastric but not endometrial tumors.

scientific article

Building a brain in the gut: development of the enteric nervous system ⬇️

scientific article published on November 27, 2012

C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging

scientific article

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

scientific article published on 04 March 2011

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

scientific article

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

scientific article

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

scientific article

Cell-free assay breakthrough for MLH1 variants.

scientific article published in March 2010

Charles Buys (1942-2014).

scientific article published in December 2014

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

scientific article

Clinical relevance of 18F-FDG PET and 18F-DOPA PET in recurrent medullary thyroid carcinoma

scientific article published on 18 October 2012

Coexistent Hirschsprung's disease and esophageal achalasia in male siblings

scientific article published on 01 December 1997

Colorectal cancer and theCHEK2 1100delC mutation

article

Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?

scientific article published on 30 January 2012

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

scientific article

Comprehensive TP53-denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissue.

scientific article published on March 1999

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

article

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

scientific article published on 4 October 2012

Constipation as the Presenting Symptom in De Novo Multiple Endocrine Neoplasia Type 2B

article

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

scientific article

Correspondence: SEMA4A variation and risk of colorectal cancer

scientific article

Current concepts in RET-related genetics, signaling and therapeutics

scientific article

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

article

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

article

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

scientific article published on 8 March 2011

Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients.

scientific article published in August 2005

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

scientific article

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

scientific article published on 4 August 2004

Distinct transcriptional changes in donor kidneys upon brain death induction in rats: insights in the processes of brain death.

scientific article published in December 2004

Do microsatellite instability profiles really differ between colorectal and endometrial tumors?

scientific article

Endocrine tumours: progressive metastatic medullary thyroid carcinoma: first- and second-line strategies.

scientific article

Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

article

Estrogens, MSI and Lynch syndrome-associated tumors.

scientific article published on 25 June 2009

Evidence based selection of housekeeping genes

scientific article

Exon structure and flanking intronic sequences of the human RET proto-oncogene

scientific article (publication date: 15 November 1993)

Expression of tumour necrosis factor-related apoptosis-inducing ligand death receptors in sporadic and hereditary colorectal tumours: Potential targets for apoptosis induction

article

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

scientific article published on August 1996

Familial endometrial cancer in female carriers of MSH6 germline mutations

scientific article (publication date: October 1999)

Fine mapping of the 9q31 Hirschsprung's disease locus.

scientific article

Focal adhesion kinase (FAK) binds RET kinase via its FERM domain, priming a direct and reciprocal RET-FAK transactivation mechanism.

scientific article

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

scientific article published on November 2007

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability

scientific article

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

scientific article

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

scientific article

Getting rid of the PMS2 pseudogenes: mission impossible?

scientific article

Haplotype sharing test maps genes for familial cardiomyopathies.

scientific article published on May 2011

High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability.

scientific article

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

scientific article published on December 2014

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics

article

Hirschsprung disease, associated syndromes and genetics: a review

scientific article

Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.

scientific article

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

scientific article

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

scientific article published in February 2002

Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.

scientific article published on August 2010

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

scientific article published on 24 April 2006

Identifying candidate Hirschsprung disease-associated RET variants

scientific article

InSiGHT leads in the implementation of the Human Variome Project

scientific article published on 10 March 2011

Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

article

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

scientific article published on May 2009

KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

scientific article published on 9 July 2010

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

scientific article

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

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

MBD4 mutations are rare in gastric carcinomas with microsatellite instability

scientific article published in September 2003

MEIS and PBX homeobox proteins in ovarian cancer.

scientific article published on 18 October 2007

MEN2A-RET-induced cellular transformation by activation of STAT3

scientific article

MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer

article

MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

article

MUTYH and the mismatch repair system: partners in crime?

scientific article

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

scientific article

Medullary Thyroid Cancer in a Patient with Hirschsprung Disease with a C609Y Germline RET-mutation

scientific article published on 01 February 2005

Medullary thyroid carcinoma and biomarkers: past, present and future

scientific article published on July 2009

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

scientific article

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?

scientific article

Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients

scientific article published in September 2009

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

article

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

scientific article

Mutation update on the CHD7 gene involved in CHARGE syndrome

scientific article

Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

article

Mutations in SCG10 are not involved in Hirschsprung disease

scientific article

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

scientific article

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

scientific article published in July 1999

Natural gene therapy in dystrophic epidermolysis bullosa

scientific article published on 17 October 2011

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

scientific article published on December 2014

No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer

article

No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.

scientific article published in July 2004

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations

scientific article published on 20 May 2014

No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

scientific article published on 01 March 1996

Novel no-stop FLNA mutation causes multi-organ involvement in males

article

Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1)

scientific article published on 10 April 2007

Ordering of markers in the pericentromeric region of chromosome 10

scientific article published on 01 July 1995

PMS2 involvement in patients suspected of Lynch syndrome.

scientific article

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

scientific article

Pathways systematically associated to Hirschsprung's disease

scientific article published on 02 December 2013

Perspectives for tailored chemoprevention and treatment of colorectal cancer in Lynch syndrome.

scientific article published on 14 December 2010

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

scientific article

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

scientific article

Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase protein expression on survival in adjuvantly treated stage III colon cancer patients

scientific article published on 12 July 2005

RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors

scientific article published on 18 July 2006

RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas.

scientific article published on 17 July 2012

Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation.

scientific article published on 5 January 2007

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis

scientific article

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

scientific article

Reduced endothelin-3 expression in sporadic Hirschsprung disease

scientific article published on 01 May 2000

Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance

scientific article published on 28 March 2013

Segregation at three loci explains familial and population risk in Hirschsprung disease

scientific article published on 15 April 2002

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

article

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

scientific article

Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype

scientific article

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting

scientific article

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting.

scientific article

Survival-related profile, pathways, and transcription factors in ovarian cancer

scientific article published on February 2009

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

scientific article

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

scientific article published on 26 May 2009

Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development.

scientific article

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.

scientific article

The Effects of Four Different Tyrosine Kinase Inhibitors on Medullary and Papillary Thyroid Cancer Cells ⬇️

scientific article published on April 6, 2011

The Human Leukocyte Antigen Region and Colorectal Cancer Risk

article

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals

scientific article

The cardiac phenotype in patients with a CHD7 mutation.

scientific article published in June 2013

The entire miR-200 seed family is strongly deregulated in clear cell renal cell cancer compared to the proximal tubular epithelial cells of the kidney.

scientific article

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

scientific article published on 9 September 2011

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

scientific article

The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?

article

The role of maternal-fetal cholesterol transport in early fetal life: current insights.

scientific article published on 31 January 2013

Three novel KCNA1 mutations in episodic ataxia type I families

scientific article

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

scientific article published in December 2003

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

scientific article published on 3 October 2016

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats

scientific article

Two cases of the caudal duplication anomaly including a discordant monozygotic twin

scientific article published in November 2002

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

scientific article published on 25 December 2020

Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.

scientific article published on 25 October 2010

What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration ⬇️

scientific article published on November 12, 2011

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

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