L. Govaerts

发表

Social and medical need for whole genome high resolution NIPT

L. Hoefsloot, M. Knapen, L. V. van Zutven, 2019, Molecular genetics & genomic medicine.

Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies

R. Galjaard, M. Srebniak, M. Joosten, 2015, Human mutation.

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

M. Knapen, J. Knijnenburg, R. Galjaard, 2015, European Journal of Human Genetics.

Facial and pituitary morphology are related in Dutch patients with GH deficiency

J. Baan, A. Hokken-Koelega, L. Govaerts, 2008, Clinical endocrinology.

Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks

D. Papatsonis, M. Knapen, F. D. de Vries, 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Familial syndromic esophageal atresia maps to 2p23-p24.

R. Hennekam, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) Familial syndromic esophegeal atresia maps to p 23p 24

R. Hennekam, J. Tolmie, H. Brunner, 2022 .

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

C. Ruivenkamp, H. V. van Duyvenvoorde, M. Losekoot, 2009, The Journal of clinical endocrinology and metabolism.

Omphalocele: comparison of outcome following prenatal or postnatal diagnosis

D. Tibboel, J. Wladimiroff, E. Steegers, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

R. Galjaard, M. Srebniak, M. Joosten, 2011, European Journal of Human Genetics.

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

E. Sistermans, B. Faas, K. Lichtenbelt, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

M. Knapen, A. Tibben, R. Galjaard, 2016, Journal of Genetic Counseling.

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

R. Galjaard, M. Srebniak, M. Joosten, 2013, European Journal of Human Genetics.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?

L. Hoefsloot, M. Knapen, R. Galjaard, 2019, Prenatal diagnosis.

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.

A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat.

L. Looijenga, H. Stoop, A. V. van Kessel, 2002, Cancer Genetics and Cytogenetics.

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.

L. Govaerts, R. Weber, G. Dohle, 2002, Human reproduction.

The influence of SNP‐based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies

W. V. van IJcken, M. Knapen, J. Knijnenburg, 2017, Human mutation.

Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients.

J. Giltay, J. Kremer, R. Hordijk, 1999, Human reproduction.

Impact of folate and homocysteine metabolism on human reproductive health

L. Govaerts, R. Weber, G. Dohle, 2015 .

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

L. Hoefsloot, J. Saris, D. Papatsonis, 2018, Prenatal diagnosis.

Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.

S. Schwartz, N. Spinner, J. Crolla, 2000, American journal of human genetics.

Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders – genetic counseling and pregnancy outcome in 57 cases

D. Papatsonis, M. Knapen, J. Knijnenburg, 2017, Prenatal diagnosis.

Whole‐genome array as a first‐line cytogenetic test in prenatal diagnosis

M. Knapen, F. D. de Vries, R. Galjaard, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

R. Galjaard, M. Srebniak, A. Go, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

M. Knapen, A. Tibben, F. D. de Vries, 2014, Journal of clinical medicine.

Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient

D. Tibboel, M. Lequin, A. de Klein, 2010, PloS one.

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

K. Ormond, I. Vogel, M. Srebniak, 2021, Clinical genetics.

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

M. Knapen, F. D. de Vries, R. Galjaard, 2016, PloS one.

CHARGE Association-related Ocular Pathology in a Newborn with Partial Trisomy 19q and Partial Monosomy 21q, from a Maternal Translocation (19;21) (q13.1;q22.3)

J. Kros, R. D. de Krijger, C. Mooy, 1999, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer.

C. Ricketts, L. Vreede, M. Debiec‐Rychter, 2009, Cancer genetics and cytogenetics.

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

M. Knapen, R. Galjaard, M. Srebniak, 2016, Molecular Cytogenetics.

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

K. Hansson, L. Stockmann, L. Govaerts, 2014, Journal of autism and developmental disorders.

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

M. Knapen, R. Galjaard, M. Srebniak, 2012, Molecular Cytogenetics.

An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)—difficulties in interpretation

D. Halley, R. Galjaard, M. Srebniak, 2008, Prenatal diagnosis.

Phenotypic consequences of a novel SCO2 gene mutation

H. Smeets, V. Tiranti, R. Verdijk, 2008, American journal of medical genetics. Part A.

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

L. Hoefsloot, D. Papatsonis, M. Srebniak, 2019, Prenatal diagnosis.

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

L. Hoefsloot, F. Jehee, M. Knapen, 2020, Prenatal diagnosis.

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

L. Hoefsloot, G. Mancini, M. Wilke, 2020, Acta obstetricia et gynecologica Scandinavica.

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

F. D. de Vries, R. Galjaard, M. Srebniak, 2015, Genetics in Medicine.

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.

B. Oostra, R. Oldenburg, A. Bertoli-Avella, 2008, Human reproduction.

Another Rare Prenatal Case of Post‐Zygotic Mosaic Trisomy 17

M. Knapen, J. Knijnenburg, F. D. de Vries, 2013, American journal of medical genetics. Part A.

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

M. Knapen, A. Tibben, R. Galjaard, 2017, Journal of Genetic Counseling.

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

S. van Rijn, C. V. van Ravenswaaij-Arts, K. Hansson, 2013, Journal of Autism and Developmental Disorders.

Clinical experience of unexpected findings in prenatal array testing.

F. D. de Vries, R. Galjaard, M. Srebniak, 2016, Biomarkers in medicine.

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

M. Knapen, A. Tibben, R. Galjaard, 2015, Clinical genetics.

Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques

J. Engelen, L. Govaerts, G. Christiaens, 2003, Prenatal diagnosis.

[Incidental detection of maternal malignancy in non-invasive prenatal test].

M. Knapen, I. Boere, R. Galjaard, 2019, Nederlands tijdschrift voor geneeskunde.