S. Bhola

发表

A novel cryptic CBFB-MYH11 gene fusion present at birth leading to acute myeloid leukemia and allowing molecular monitoring for minimal residual disease

M. Veening, A. Ford, V. Haas, 2018 .

Genomic amplification of MYC as double minutes in a patient with APL-like leukemia

G. Ossenkoppele, H. Wessels, S. Zweegman, 2014, Molecular Cytogenetics.

Chromosomal abnormalities and copy number variations in fetal left‐sided congenital heart defects

N. Blom, S. Plati, F. Jansen, 2016, Prenatal diagnosis.

Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

H. Meijers-Heijboer, K. Stuurman, S. Bhola, 2021, Frontiers in Medicine.

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

D. Oepkes, E. Sistermans, M. Weiss, 2017, Genetics in Medicine.

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

R. Hochstenbach, G. Floridia, R. Hastings, 2016, European Journal of Human Genetics.

Genomic amplification of MYC as double minutes in a patient with APL-like leukemia

G. Ossenkoppele, H. Wessels, S. Zweegman, 2014, Molecular Cytogenetics.

A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH

K. Stuurman, A. Nieuwint, S. Bhola, 2018, Clinical case reports.

Bmc Pregnancy and Childbirth Multiplex Ligation-dependent Probe Amplification versus Karyotyping in Prenatal Diagnosis: the M.a.k.e. Study

G. Bonsel, D. Oepkes, A. Kooper, 2022 .

Phenotypic and genomic analysis of an exceptional case of enteropathy associated T-cell lymphoma.

B. Ylstra, G. Tack, W. Verbeek, 2010, Leukemia research.

Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing.

J. Twisk, M. Blankenstein, J. V. van Vugt, 2014, European journal of obstetrics, gynecology, and reproductive biology.

Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?

F. Jehee, E. Sistermans, M. Srebniak, 2021, Acta obstetricia et gynecologica Scandinavica.

Challenging diagnosis in a patient with clear lymphoid immunohistochemical features and myeloid morphology: mixed phenotype acute leukemia with erythrophagocytosis.

G. Ossenkoppele, A. A. van de Loosdrecht, T. Westers, 2011, Leukemia research.

Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis

A. Smits, J. V. van Lith, E. Birnie, 2011, Archives of Gynecology and Obstetrics.

Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing.

J. Twisk, M. Blankenstein, J. V. van Vugt, 2014, European journal of obstetrics, gynecology, and reproductive biology.