M. Blok

发表

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

R. Kamps, R. Brandão, B. J. van den Bosch, 2017, International journal of molecular sciences.

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Jeroen F. J. Laros, R. Pfundt, G. Thijs, 2019, Human mutation.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS genetics.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Lara E. Sucheston-Campbell, 2017, Nature Genetics.

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

Mads Thomassen, Etienne Rouleau, Dieter Niederacher, 2010, Cancer research.

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

M. Blok, C. V. van Asperen, A. V. D. van den Ouweland, 2019, Familial Cancer.

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

M. Urioste, P. Chanson, M. Blok, 2012, Clinical Cancer Research.

Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers

P. Devilee, H. Meijers-Heijboer, M. Blok, 2019, Breast Cancer Research and Treatment.

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

M. Zeegers, R. Brandão, A. Paulussen, 2009, Familial Cancer.

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

M. Blok, C. J. Asperen, G. Matthijs, 2012, Breast Cancer Research and Treatment.

BMC Cancer

Leila Mohammadi, Peter Devilee, H. V. van Houwelingen, 2001 .

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011, Breast Cancer Research.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

W. Chung, J. Benítez, R. Eeles, 2020, Breast Cancer Research.

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

R. Brandão, M. Blok, K. V. Roozendaal, 2011, Breast Cancer Research and Treatment.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011 .

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

W. Chung, R. Nussbaum, F. Couch, 2016, Breast Cancer Research and Treatment.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS Genetics.

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

R. Siebert, M. Blok, R. Sciot, 2022, Familial Cancer.

Impact of Two Functional Progesterone Receptor Polymorphisms (PRP): +331G/A and PROGINS on the Cancer Risks in Familial Breast/Ovarian Cancer

R. Brandão, M. Blok, A. Romano, 2007 .

Web table 2

Amanda B. Spurdle, Marcelo A. Carvalho, Fergus J. Couch, 2015 .

The r144 Major Histocompatibility Complex Class I-Like Gene of Rat Cytomegalovirus Is Dispensable for both Acute and Long-Term Infection in the Immunocompromised Host

M. Blok, J. Kloover, C. Bruggeman, 2000, Journal of Virology.

A rat cytomegalovirus strain with a disruption of the r144 MHC class I-like gene is attenuated in the acute phase of infection in neonatal rats

M. Blok, J. Kloover, C. Bruggeman, 2002, Archives of Virology.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

W. Chung, D. Steinemann, F. Couch, 2022, Communications Biology.

Diagnostic Implications of Human Cytomegalovirus Immediate Early-1 and pp67 mRNA Detection in Whole-Blood Samples from Liver Transplant Patients Using Nucleic Acid Sequence-Based Amplification

M. Blok, Jaap M Middeldorp, C. Bruggeman, 2000, Journal of Clinical Microbiology.

Sensitive detection of cytomegalovirus infection in transplant recipients using nucleic acid sequence-based amplification.

M. Blok, M. Christiaans, Jaap M Middeldorp, 2000, Transplantation proceedings.

Nucleic acid sequence-based amplification: a new technique for monitoring cytomegalovirus infection in transplant recipients.

M. Blok, M. Christiaans, Jaap M Middeldorp, 1999, Transplantation proceedings.

Evaluation of a new method for early detection of active cytomegalovirus infections. A study in kidney transplant recipients

M. Blok, M. Christiaans, Jaap M Middeldorp, 1998, Transplant international : official journal of the European Society for Organ Transplantation.

Diagnostic Value of Monitoring Human Cytomegalovirus Late pp67 mRNA Expression in Renal-Allograft Recipients by Nucleic Acid Sequence-Based Amplification

M. Blok, M. Christiaans, Jaap M Middeldorp, 1998, Journal of Clinical Microbiology.

Detection of Nonspecific Cytomegalovirus Antigen in Peripheral Blood Mononuclear Cells After Coronary Bypass Surgery

M. Blok, G. Ramsay, A. Kessels, 2001, European Journal of Clinical Microbiology and Infectious Diseases.

Amplification Using Nucleic Acid Sequence-Based Samples from Liver Transplant Patients pp 67 mRNA Detection in Whole-Blood Cytomegalovirus Immediate Early-1 and Diagnostic Implications of Human

M. Blok, Jaap M Middeldorp, C. Bruggeman, 2000 .

Diagnostic Value of Nucleic-Acid-Sequence- Based Amplification for the Detection of Cytomegalovirus Infection in Renal and Liver Transplant Recipients

M. Blok, M. Christiaans, Jaap M Middeldorp, 2000, Intervirology.

Early detection of human cytomegalovirus infection after kidney transplantation by nucleic acid sequence-based amplification.

M. Blok, M. Christiaans, Jaap M Middeldorp, 1999, Transplantation.

Onset and duration of cytomegalovirus immediate early 1 mRNA expression in the blood of renal transplant recipients

M. Blok, M. Christiaans, P. Terporten, 2004, Journal of medical virology.

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

R. Brandão, M. Blok, E. G. Gómez García, 2012, Molecular Biology Reports.

FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.

R. Brandão, M. Blok, K. V. van Roozendaal, 2013, Human reproduction.

Reproductive genetics FMR 1 low sub-genotypedoes not rescue BRCA 1 / 2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA 1 / 2-carriers

R. Brandão, M. Blok, K. V. Roozendaal, 2013 .

Monitoring the course of CMV infection by detection of specific viral transcripts

M. Blok, 2001 .

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

V. Pankratz, F. Couch, B. Bonanni, 2012, British Journal of Cancer.

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

A. Hoischen, M. Nelen, B. Tops, 2016, Human mutation.

Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

S. Seneca, L. Wessels, M. Blok, 2020, Clinical Cancer Research.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

O. Olopade, A. Spurdle, D. Baralle, 2016, Journal of Medical Genetics.

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Marta Santamariña Pena, F. Couch, A. Spurdle, 2015, Journal of Medical Genetics.

A guide for functional analysis of BRCA1 variants of uncertain significance

Etienne Rouleau, Aneliya Velkova, Alvaro Galli, 2012, Human mutation.

Bmc Cancer

Leila Mohammadi, Peter Devilee, Hans C van Houwelingen, 2022 .

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

P. Devilee, M. Blok, S. Verhoef, 2009, Breast Cancer Research.

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

A. Spurdle, R. Brandão, M. Blok, 2019, International journal of cancer.

University of Groningen A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history Garcia,

P. Devilee, A. Ouweland, M. Blok, 2015 .

UvA-DARE ( Digital Academic Repository ) A method to assess the clinical significance of unclassified variants in the BRCA 1 and BRCA 2 genes based on cancer family history

P. Devilee, A. Ouweland, M. Blok, 2009 .

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

F. Couch, B. Bonanni, O. Olopade, 2013 .

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

A. Spurdle, D. Baralle, R. Brandão, 2014, Human molecular genetics.

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

H. Brunner, R. Brandão, A. Paulussen, 2021, medRxiv.

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

H. Smeets, A. Paulussen, M. Blok, 2013, European Journal of Human Genetics.

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Etienne Rouleau, Paolo Peterlongo, Eliseos J Mucaki, 2018, Human mutation.

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

R. Eeles, J. Hopper, D. Easton, 2021, American journal of obstetrics and gynecology.

Generation and initial characterization of novel tumour organoid models to study human pancreatic cancer‐induced cachexia

M. Blok, L. Heij, S. Boj, 2020, Journal of cachexia, sarcopenia and muscle.

Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.

M. Blok, E. Gomez-Garcia, A. van den Wijngaard, 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Dennis J. Hazelett, 2017, Nature Genetics.

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

J. Hopper, E. John, D. Easton, 2019, Cancer Epidemiology, Biomarkers & Prevention.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

M. Blok, C. V. van Asperen, A. V. D. van den Ouweland, 2019, Familial Cancer.

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

F. Couch, B. Karlan, J. Benítez, 2011, Journal of the National Cancer Institute.

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

A. Spurdle, Å. Borg, P. Devilee, 2017, Journal of Medical Genetics.

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

R. Kamps, S. Xanthoulea, M. Blok, 2015, Oncotarget.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

H. Smeets, T. de Ravel, K. Devriendt, 2011, Human mutation.

Analysis of the 3' terminal sequence recognized by the Rift Valley fever virus transcription complex in its ambisense S segment.

M. Blok, M. Bouloy, V. Obry, 1997, Virology.

CYTOMEGALOVIRUS INFECTION, VIRAL DNA, AND IMMEDIATE EARLY-1 GENE EXPRESSION IN REJECTING RAT LIVER ALLOGRAFTS1

M. Blok, C. Bruggeman, T. Martelius, 2001, Transplantation.

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

M. Blok, S. Tejpar, K. Claes, 2021, Cancers.

A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer

Patrick Lindsey, Koen K Van de Vijver, Jürgen Veeck, 2013, Breast Cancer Research.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

W. He, M. Beckmann, N. Camp, 2023, European Journal of Human Genetics.

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

K. Czene, P. Hall, V. Pankratz, 2009, Breast Cancer Research and Treatment.

Human Cancer Biology MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

M. Urioste, P. Chanson, M. Blok, 2012 .

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

I. D. de Coo, H. Smeets, M. Blok, 2007, Journal of Medical Genetics.

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

D. Steinemann, F. Couch, B. Bonanni, 2020, Genetics in Medicine.

Growth pattern in Kabuki syndrome with a KMT2D mutation

K. Devriendt, M. Blok, C. Stumpel, 2016, American journal of medical genetics. Part A.

No evidence to support an association of PER3 clock gene polymorphism with ADHD-related idiopathic chronic sleep onset insomnia

M. Blok, S. Archer, K. B. van der Heijden, 2005 .

STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity

M. Blok, P. Steijlen, M. Vreeburg, 2022, The British journal of dermatology.

An evaluation of the integration of non-traditional learning tools into a community based breast and cervical cancer education program: The witness project of Buffalo

Takuji Tanaka, H. V. van Houwelingen, P. Devilee, 2003, BMC Cancer.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

James M. Hodge, E. Burnside, Y. Kamatani, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

V. Pankratz, F. Couch, O. Olopade, 2010, Cancer research.

Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

F. Couch, O. Olopade, T. Rebbeck, 2011, Cancer Epidemiology, Biomarkers & Prevention.

Null Results in Brief Common Genetic Variation at BARD 1 Is Not Associated with Breast Cancer Risk in BRCA 1 or BRCA 2 Mutation Carriers

O. Olopade, T. Rebbeck, R. Eeles, 2011 .

A guide for functional analysis of BRCA1 variants of uncertain significance

F. Couch, R. Brandão, M. Blok, 2012, Human mutation.

Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions.

M. Blok, E. Pasmant, I. Laurendeau, 2023, The Journal of molecular diagnostics : JMD.