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A. C. Knegt · SciRah

Researcher profile · Semantic Scholar

A. C. Knegt

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A. C. Knegt — researcher profile on SciRah

h-index: 18
Works: 49
Citations: 1,052

Most-cited papers

Selective chromosome analysis in couples with two or more miscarriages: case-control study
Maureen T. M. Franssen, J. Korevaar, N. Leschot, P. Bossuyt +8 more
2005British medical journal151 citations Open access
Semantic Scholar
Embryonic stem cell-like cells derived from adult human testis.
S. C. Mizrak, J. V. Chikhovskaya, H. Sadri-Ardekani, S. V. van Daalen +13 more
2010Human Reproduction138 citations Open access
Semantic Scholar
Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage.
M. Goddijn, J. Joosten, A. C. Knegt, F. van der Veen +3 more
2004Human Reproduction102 citations Open access
Semantic Scholar
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
A. V. van Nisselrooij, M. Lugthart, S. Clur, I. Linskens +10 more
2020Genetics in Medicine63 citations Open access
Semantic Scholar
Genetic basis of hyperlysinemia
S. Houten, Heleen te Brinke, S. Denis, J. Ruiter +11 more
2013Orphanet Journal of Rare Diseases54 citations Open access
Semantic Scholar
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria
Jacob J. Hagen, H. Brinke, R. Wanders, A. C. Knegt +10 more
2015Journal of Inherited Metabolic Disease53 citations Open access
Semantic Scholar
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome
K. Szakszon, C. Salpietro, Naseebullah Kakar, A. C. Knegt +3 more
2013American Journal of Medical Genetics. Part A43 citations Open access
Semantic Scholar
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
J. Bliek, S. Snijder, S. Maas, A. Polstra +4 more
2009European Journal of Medical Genetics42 citations
Semantic Scholar
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment
K. Writzl, A. C. Knegt
2013American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Genomic and functional overlap between somatic and germline chromosomal rearrangements.
S. van Heesch, M. Simonis, Markus J. van Roosmalen, V. Pillalamarri +26 more
2014Cell Reports27 citations Open access
Semantic Scholar
Increased nuchal translucency and split‐hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus
E. Bijlsma, A. C. Knegt, C. Bilardo, F. Goodman
2005Prenatal Diagnosis25 citations
Semantic Scholar
Complexes of some divalent metals with 18-crown-6
D. de Vos, J. Van Daalen, A. C. Knegt, T. Van Heyningen +4 more
197524 citations
Semantic Scholar
Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007–2009)
Jacqueline E. Siljee, A. C. Knegt, M. Knapen, M. Bekker +2 more
2014Prenatal Diagnosis23 citations Open access
Semantic Scholar
Intellectual Disability and Hemizygous GPD2 Mutation
D. Barge-Schaapveld, R. Ofman, A. C. Knegt, M. Alders +3 more
2013American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
R. Møller, L. Jensen, S. Maas, J. Filmus +27 more
2013Human Genetics19 citations Open access
Semantic Scholar
Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 → 13q22 chromosome and balancing reciprocal deletion
A. C. Knegt, S. Li, J. Engelen, E. Bijlsma +1 more
2003Prenatal Diagnosis19 citations
Semantic Scholar
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results
Karin Huijsdens-van Amsterdam, R. Straver, M. V. van Maarle, A. C. Knegt +4 more
2018Genetics in Medicine18 citations Open access
Semantic Scholar
Selective karyotyping in recurrent miscarriage: are recommended guidelines adopted in daily clinical practice?
E. van den Boogaard, R. Hermens, H. Verhoeve, J. A. Kremer +3 more
2011Human Reproduction18 citations Open access
Semantic Scholar
Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2
W. Verhoeven, J. Egger, A. C. Knegt, José Zuydam +1 more
2016Neuropsychiatric Disease and Treatment16 citations Open access
Semantic Scholar
Achondroplasia with multiple‐suture craniosynostosis: A report of a new case of this rare association
B. Bessenyei, A. Nagy, E. Balogh, László Novák +3 more
2013American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Chromosomal abnormalities and copy number variations in fetal left‐sided congenital heart defects
F. Jansen, M. Hoffer, C. V. van Velzen, Stephani Klingeman Plati +8 more
2016Prenatal Diagnosis14 citations Open access
Semantic Scholar
Blepharophimosis mental retardation syndrome Say‐Barber/Biesecker/Young‐Simpson type – New findings with neuroimaging
K. Szakszon, E. Berényi, A. Jakab, B. Bessenyei +5 more
2011American Journal of Medical Genetics. Part A14 citations Open access
Semantic Scholar
Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage
Maureen T. M. Franssen, J. Korevaar, W. M. Tjoa, N. Leschot +6 more
2008Prenatal Diagnosis13 citations
Semantic Scholar
Prenatal sonographic features can accurately determine parental origin in triploid pregnancies
M. Lugthart, J. Horenblas, E. Kleinrouweler, M. Engels +4 more
2020Prenatal Diagnosis12 citations Open access
Semantic Scholar
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
Karin Huijsdens-van Amsterdam, D. Barge-Schaapveld, I. B. Mathijssen, M. Alders +2 more
2012Molecular Cytogenetics11 citations Open access
Semantic Scholar
Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents
M. V. van Huizen, M. Pighetti, E. Bijlsma, A. C. Knegt +1 more
2005Ultrasound in Obstetrics and Gynecology11 citations
Semantic Scholar
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.
K. Szakszon, E. Felszeghy, I. Csízy, T. Józsa +7 more
2012European Journal of Medical Genetics10 citations Open access
Semantic Scholar
Aiming at multidisciplinary consensus: what should be detected in prenatal diagnosis?
E. M. Boormans, Erwin Birnie, A. C. Knegt, G. H. Schuring-Blom +2 more
2010Prenatal Diagnosis10 citations
Semantic Scholar
Prenatal diagnosis in the Netherlands, 1991–2000: number of invasive procedures, indications, abnormal results and terminations of pregnancy
H. T. Nagel, A. C. Knegt, M. Kloosterman, H. Wildschut +2 more
200710 citations
Semantic Scholar
[Invasive prenatal diagnosis in the Netherlands, 1991-2000: number of procedures, indications and abnormal results detected].
H. T. Nagel, A. C. Knegt, M. Kloosterman, H. Wildschut +2 more
2004Nederlandsch tijdschrift voor geneeskunde9 citations
Semantic Scholar
Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array‐CGH in three related patients
G. P. Szabó, A. C. Knegt, A. Ujfalusi, E. Balogh +2 more
2012American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
[Risk factors for structural chromosomal abnormality in > or = 2 miscarriages, as an instrument for selective karyotyping].
M. T. M. Franssen, J. Korevaar, N. Leschot, P. Bossuyt +8 more
2007Nederlandsch tijdschrift voor geneeskunde6 citations
Semantic Scholar
Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases
M. V. van Huizen, A. C. Knegt, E. Bijlsma, C. Bilardo
2004Prenatal Diagnosis6 citations
Semantic Scholar
Genetic analysis of fetal nucleated red blood cells from CVS washings
M. Jakobs, J. V. van Lith, I. D. de Graaf, A. C. Knegt +1 more
2000Prenatal Diagnosis6 citations
Semantic Scholar
Trisomy 13 or 18 (mosaicism) in first trimester cytotrophoblast cells: false-positive results in 11 out of 51 cases.
G. Schuring-Blom, K. Boer, A. C. Knegt, M. Verjaal +1 more
2002European Journal of Obstetrics, Gynecology, and Reproductive Biology4 citations
Semantic Scholar
FISH analysis of fetal nucleated red blood cells from CVS washings in cases of aneuploidy
G. Schuring-Blom, J. Hoovers, J. V. van Lith, A. C. Knegt +1 more
2001Prenatal Diagnosis3 citations
Semantic Scholar
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.
I. Ginjaar, M. Kriek, M. Hoffer, R. Oegema +10 more
2025Neuromuscular Disorders1 citations Open access
Semantic Scholar
absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2
W. Verhoeven, Jos I. M. Egger, A. C. Knegt, José Zuydam +1 more
20161 citations
Semantic Scholar
[Deletion 15q26 syndrome].
K. Szakszon, A. Ujfalusi, E. Balogh, G. Mogyorósy +6 more
2014Orvosi Hetilap1 citations Open access
Semantic Scholar
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
Karin Huijsdens-van Amsterdam, D. Barge-Schaapveld, I. B. Mathijssen, M. Alders +2 more
2012Molecular Cytogenetics1 citations Open access
Semantic Scholar
Chapter 4 Mosaic maternal 10 qter deletions are associated with FRA 10 B expansions and may cause false positive NIPT results
K. H. Amsterdam, R. Straver, M. V. van Maarle, A. C. Knegt +4 more
20180 citations
Semantic Scholar
absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2
W. Verhoeven, Jos I. M. Egger, A. C. Knegt, José Zuydam +1 more
20160 citations
Semantic Scholar
Maternale uniparentale disomie 14. In de differentiaaldiagnose bij Prader-Willi-syndroom
S. Tamminga, S. E. Stalman, G. A. Kamp, Y. Hendriks +2 more
20150 citations
Semantic Scholar
Early pregnancy Selective karyotyping in recurrent miscarriage : are recommended guidelines adopted in daily clinical practice ?
E. van den Boogaard, R. Hermens, H. Verhoeve, J. Kremer +3 more
20110 citations
Semantic Scholar
POSTER VIEWING SESSION - EARLY PREGNANCY
T. Kamijo, P. Milart, K. Wojcik, P. Szkodziak +123 more
20110 citations Open access
Semantic Scholar
Appendix. Other Members of the MLP and Karyotypine Evaluation (M.A.K.E.) Study Group
M. Hoffer, M. Macville, A. C. Knegt, A. Smits +8 more
20100 citations
Semantic Scholar
[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities].
E. M. Boormans, J. M. V. van Lith, C. Bilardo, A. C. Knegt +16 more
2006Nederlandsch tijdschrift voor geneeskunde0 citations
Semantic Scholar
Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents [letter]
E. HuizenvanM., M. Pighetti, E. Bijlsma, A. C. Knegt +1 more
20050 citations
Semantic Scholar
Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics
K. H. Amsterdam, R. Straver, M. V. van Maarle, A. C. Knegt +4 more
0 citations
Semantic Scholar

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