| Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups SM Maas, F Vansenne, DJM Kadouch, A Ibrahim, J Bliek, S Hopman, ... American journal of medical genetics Part A 170 (9), 2248-2260, 2016 | 207 | 2016 |
| Thrombophilia testing for prevention of recurrent venous thromboembolism DM Cohn, F Vansenne, CA de Borgie, S Middeldorp Cochrane Database of systematic reviews, 2012 | 99 | 2012 |
| Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes MN Loviglio, M Leleu, K Männik, M Passeggeri, G Giannuzzi, ... Molecular Psychiatry 22 (6), 836-849, 2017 | 91 | 2017 |
| Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain-specific neurodevelopmental disorders S Barbosa, S Greville-Heygate, M Bonnet, A Godwin, ... The American Journal of Human Genetics 106 (3), 338-355, 2020 | 77 | 2020 |
| The psychological impact of testing for thrombophilia: a systematic review DM Cohn, F Vansenne, AA Kaptein, C De Borgie, S Middeldorp Journal of Thrombosis and Haemostasis 6 (7), 1099-1104, 2008 | 75 | 2008 |
| The effects of screening on health behaviour: a summary of the results of randomized controlled trials M Deutekom, F Vansenne, K McCaffery, ML Essink-Bot, K Stronks, ... Journal of Public Health 33 (1), 71-79, 2011 | 52 | 2011 |
| A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency S Jansen, A Hoischen, BP Coe, GL Carvill, H Van Esch, DGM Bosch, ... European journal of human genetics 26 (1), 54-63, 2018 | 43 | 2018 |
| Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior HK Harris, T Nakayama, J Lai, B Zhao, N Argyrou, CS Gubbels, A Soucy, ... Genetics in Medicine 23 (6), 1028-1040, 2021 | 39 | 2021 |
| De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review WMR Van den Akker, I Brummelman, LM Martis, RN Timmermans, ... Clinical genetics 93 (5), 1000-1007, 2018 | 31 | 2018 |
| Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy I Körver-Keularts, M De Visser, HD Bakker, RJA Wanders, F Vansenne, ... JIMD Reports, Volume 22, 39-45, 2015 | 31 | 2015 |
| Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 D Lenz, DEC Smith, E Crushell, RA Husain, GS Salomons, B Alhaddad, ... Genetics in Medicine 22 (11), 1863-1873, 2020 | 28 | 2020 |
| Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome MJA Weerts, K Lanko, FJ Guzmán-Vega, A Jackson, R Ramakrishnan, ... Genetics in Medicine 23 (11), 2122-2137, 2021 | 24 | 2021 |
| Evaluating the psychological effects of genetic testing in symptomatic patients: a systematic review F Vansenne, PMM Bossuyt, CAJM de Borgie Genetic Testing and Molecular Biomarkers 13 (5), 555-563, 2009 | 21 | 2009 |
| ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum TM Yates, M Drucker, A Barnicoat, K Low, EH Gerkes, AE Fry, MJ Parker, ... Human Mutation 41 (5), 1042-1050, 2020 | 20 | 2020 |
| Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain AJE Waalkens, F Vansenne, AH Van Der Hout, R Zutt, J Mourmans, ... Neurology: Genetics 4 (1), e214, 2018 | 17 | 2018 |
| Providing genetic risk information to parents of newborns with sickle cell trait: role of the general practitioner in neonatal screening F Vansenne, CAJM de Borgie, M Legdeur, MO Spauwen, M Peters Genetic Testing and Molecular Biomarkers 15 (10), 671-675, 2011 | 17 | 2011 |
| The effect of cervical X-irradiation on activity index of thyrocytes and plasma TSH: a pre-clinical model for radiation-induced thyroid damage HM Van Santen, JE Van Dijk, H Rodermond, F Vansenne, N Meertens, ... Journal of endocrinological investigation 28, 261-269, 2005 | 14 | 2005 |
| Economic analysis of chromosome testing in couples with recurrent miscarriage to prevent handicapped offspring M Van Leeuwen, F Vansenne, JC Korevaar, F Van Der Veen, M Goddijn, ... Human Reproduction 28 (7), 1737-1742, 2013 | 13 | 2013 |
| Sickle cell disease in heel injection screening. II F Vansenne, CA de Borgie, MJ Bouva, MA Legdeur, R van Zwieten, ... Nederlands Tijdschrift Voor Geneeskunde 153 (18), 858-861, 2009 | 11 | 2009 |
| Fever-induced paroxysmal weakness and encephalopathy (FIPWE)—part of a phenotypic continuum in patients with ATP1A3 mutations? DA Sival, F Vansenne, AH Van der Hout, MAJ Tijssen, TJ de Koning Pediatric neurology 81, 57-58, 2018 | 10 | 2018 |
Mariette GoddijnProfessor in Reproductive Medicine, Principal Investigator, University of Amsterdam在 amc.nl 的电子邮件经过验证
