S. Bulk

发表

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

N. de Leeuw, B. D. de Vries, A. Green, 2010, American journal of medical genetics. Part A.

A novel, possibly functional, single nucleotide polymorphism in the coding region of the thrombin-activatable fibrinolysis inhibitor (TAFI) gene is also associated with TAFI levels.

M. Boffa, M. Koschinsky, R. Bertina, 2001, Blood.

Human papillomavirus DNA testing for the detection of cervical intraepithelial neoplasia grade 3 and cancer: 5-year follow-up of a randomised controlled implementation trial

J. Berkhof, M. Ballegooijen, M. Boon, 2007, The Lancet.

Comparison of HPV and cytology triage algorithms for women with borderline or mild dyskaryosis in population‐based cervical screening (VUSA‐screen study)

J. Berkhof, C. Meijer, P. Snijders, 2009, International journal of cancer.

HPV DNA testing in population-based cervical screening (VUSA-Screen study): results and implications

J. Berkhof, P. Snijders, R. Verheijen, 2012, British Journal of Cancer.

Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study

A. Hofman, J. Witteman, I. M. van der Meer, 2004, British journal of haematology.

A prospective study in 112 patients

F. Baas, A. Lemstra, W. V. van Gool, 2000 .

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.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

T. de Ravel, K. Devriendt, B. Menten, 2014, European journal of medical genetics.

Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy

M. Seghaye, S. Bulk, N. Farhat, 2022, Clinics and practice.

Mutation update for the PORCN gene

R. Hennekam, J. Celli, R. Śmigiel, 2011, Human mutation.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Increased Lipoprotein ( a ) levels are not a steady prothrombotic defect

M. Boffa, M. Koschinsky, R. Bertina, 2001 .

Lamotrigine kinetics within the menstrual cycle, after menopause, and with oral contraceptives

D. Lindhout, P. Edelbroek, S. Bulk, 2009, Neurology.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

K. Devriendt, B. Menten, J. Vermeesch, 2020, Prenatal diagnosis.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Prevention of cervical cancer in the Netherlands : Studies on cytology and HPV infections

S. Bulk, 2008 .

Frequently asked questions on epilepsy, pregnancy and lactation: A EURAP-NL report

D. Lindhout, A. E. Rapcencu, S. Bulk, 2012, Seizure.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

V. Bours, A. Lumaka, F. Debray, 2023, International journal of molecular sciences.

Preferential risk of HPV16 for squamous cell carcinoma and of HPV18 for adenocarcinoma of the cervix compared to women with normal cytology in The Netherlands

J. Berkhof, P. Snijders, P. Snijders, 2005, British Journal of Cancer.

High-risk HPV type-specific clearance rates in cervical screening

J. Berkhof, P. Snijders, P. Snijders, 2007, British Journal of Cancer.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

F. Muntoni, K. Mathews, G. Meola, 2019, Human mutation.

14-3-3 testing in diagnosing Creutzfeldt–Jakob disease

F. Baas, A. Lemstra, W. A. Gool, 2000, Neurology.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

K. Devriendt, B. Menten, J. Vermeesch, 2018, Prenatal diagnosis.

Incidence and survival rate of women with cervical cancer in the Greater Amsterdam area

R. Verheijen, O. Visser, L. Rozendaal, 2003, British Journal of Cancer.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers‐Danlos syndrome

R. Pfundt, S. Nampoothiri, A. Kariminejad, 2018, Human molecular genetics.

High-risk human papillomavirus is present in cytologically false-negative smears: an analysis of “normal” smears preceding CIN2/3

J. Berkhof, P. Snijders, L. Rozendaal, 2007, Journal of Clinical Pathology.

Cervical cancer in the Netherlands 1989–1998: Decrease of squamous cell carcinoma in older women, increase of adenocarcinoma in younger women

R. Verheijen, O. Visser, L. Rozendaal, 2005, International journal of cancer.

The contribution of HPV18 to cervical cancer is underestimated using high-grade CIN as a measure of screening efficiency

J. Berkhof, P. Snijders, L. Rozendaal, 2007, British Journal of Cancer.

Evaluation of 14 triage strategies for HPV DNA‐positive women in population‐based cervical screening

J. Berkhof, P. Snijders, R. Verheijen, 2012, International journal of cancer.

Human Papillomavirus Type–Specific 18-Month Risk of High-Grade Cervical Intraepithelial Neoplasia in Women with a Normal or Borderline/Mildly Dyskaryotic Smear

J. Berkhof, C. Meijer, P. Snijders, 2006, Cancer Epidemiology Biomarkers & Prevention.

Risk of high‐grade cervical intra‐epithelial neoplasia based on cytology and high‐risk HPV testing at baseline and at 6‐months

J. Berkhof, C. Meijer, P. Snijders, 2007, International journal of cancer.

Implementation of human papillomavirus testing in cervical screening without a concomitant decrease in participation rate

P. Snijders, L. Rozendaal, A. Boeke, 2006, Journal of Clinical Pathology.

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

A. Moorman, M. Alders, A. Postma, 2013, Journal of Medical Genetics.

The Dutch CISOE-A framework for cytology reporting increases efficacy of screening upon standardisation since 1996

L. Rozendaal, C. Meijer, S. Bulk, 2004, Journal of Clinical Pathology.

Phenotype–Genotype Correlation in Children with Neurofibromatosis Type 1

S. Bulk, J. Misson, J. Harvengt, 2018, Neuropediatrics.

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

T. de Ravel, M. Abramowicz, S. Janssens, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

K. Devriendt, J. Vermeesch, J. Gatot, 2021, Obstetrics and gynecology.

COL1A2 mutation in a case of isolated short stature

V. Bours, S. Bulk, E. Boros, 2019 .

Human Mutation MUTATION UPDATE Mutation Update for the PORCN Gene

R. Hennekam, J. Celli, R. Śmigiel, 2011 .