Suzanna G.M. Frints

6.1k citations

39 papers · 1.9k indexed · h-index 21

Genetics top 2%
Molecular Biology top 10%
Pediatrics, Perinatology and Child Health top 2%
Cell Biology top 10%
Immunology

Co-authors: Christine de Die‐Smulders Wybo Dondorp Antina de Jong Peter Marynen Guido M. W. R. de Wert Koenraad Devriendt Guy Froyen Jean‐Pierre Fryns
Topics: Genomic variations and chromosomal abnormalities (11 papers)Genetics and Neurodevelopmental Disorders (10 papers)Prenatal Screening and Diagnostics (8 papers)
Cited by: Genetics Pediatrics, Perinatology and Child Health Immunology and Allergy
Journals: Nature Genetics Nature Reviews Genetics Current Biology
Partner nations: Netherlands Belgium United States

In The Last Decade

Suzanna G.M. Frints

39 papers receiving 1.8k citations

Peers

Countries citing papers authored by Suzanna G.M. Frints

Since Specialization

Citations

This map shows the geographic impact of Suzanna G.M. Frints's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Suzanna G.M. Frints with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Suzanna G.M. Frints more than expected).

Fields of papers citing papers by Suzanna G.M. Frints

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Suzanna G.M. Frints. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Suzanna G.M. Frints. The network helps show where Suzanna G.M. Frints may publish in the future.

Co-authorship network of co-authors of Suzanna G.M. Frints

This figure shows the co-authorship network connecting the top 25 collaborators of Suzanna G.M. Frints. A scholar is included among the top collaborators of Suzanna G.M. Frints based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Suzanna G.M. Frints. Suzanna G.M. Frints is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus 2019 ·Genetics in Medicine ·(unknown),Angela Sparago,Andrea Freschi,(unknown),Saskia M. Maas,Suzanna G.M. Frints,Mariëlle Alders,Laura Pignata,Monica Franzese,Claudia Angelini,Diana Carli,Alessandro Mussa,(unknown),Fulvio Gabbarini,(unknown),Giovanni Battista Ferrero,Jet Bliek,Charles A. Williams,Andrea Riccio,Flavia Cerrato	32
2	[What if the sperm donor has a hereditary disease? Informed consent needed for sharing medical information]. 2017 ·PubMed ·Jasper J. van der Smagt,L. Govaerts,Suzanna G.M. Frints	1
3	Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome 2014 ·European Journal of Human Genetics ·Lisenka E.L.M. Vissers,Monica Bonetti,Jeroen Overman,Willy M. Nillesen,Suzanna G.M. Frints,Joep de Ligt,Giuseppe Zampino,(unknown),José Carlos Machado,Marga Schepens,Han G. Brunner,Joris A. Veltman,Hans Scheffer,Piet Gros,José Luís Costa,Marco Tartaglia,Ineke van der Burgt,Helger G. Yntema,Jeroen den Hertog	51
4	Birth defects after incestuous mating: Calculating the probability of causality and reflecting on the desirability of genetic testing 2013 ·European Journal of Medical Genetics ·Leo P. ten Kate,Matthias Rath,Ute Felbor,Suzanna G.M. Frints	1
5	Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 2013 ·Human Reproduction Update ·(unknown),Luc Smits,(unknown),Christine de Die‐Smulders,Aimée Paulussen,Merryn Macville,A. Coumans,Suzanna G.M. Frints	56
6	Adducted thumbs: A clinical clue to genetic diagnosis 2012 ·European Journal of Medical Genetics ·Judith M.A. Verhagen,C. T. R. M. Schrander‐Stumpel,(unknown),Jacobiene W. Weber,J. J. P. Schrander,M. Estela Rubio‐Gozalbo,Jaap Bakker,Alexander P.A. Stegmann,Yvonne J. Vos,Suzanna G.M. Frints	9
7	Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment 2011 ·Human Reproduction ·Antina de Jong,Wybo Dondorp,Suzanna G.M. Frints,Christine de Die‐Smulders,Guido de Wert	18
8	Advances in prenatal screening: the ethical dimension 2011 ·Nature Reviews Genetics ·Antina de Jong,Wybo Dondorp,Suzanna G.M. Frints,Christine de Die‐Smulders,Guido M. W. R. de Wert	94
9	Common pathological mutations inPQBP1induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon 2009 ·Human Mutation ·Luciana Musante,(unknown),(unknown),Ute Fischer,(unknown),Suzanna G.M. Frints,Charles E. Schwartz,(unknown),Corrado Romano,Hans‐Hilger Ropers,Vera M. Kalscheuer	12
10	Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome 2007 ·Human Mutation ·Valeska Frank,Nadina Ortiz Brüchle,(unknown),Suzanna G.M. Frints,Axel Bohring,(unknown),(unknown),Heide Seidel,Jan Senderek,Nesrin Beşbaş,Unda Todt,Christian Kubisch,T. Grimm,(unknown),Sevim Balcı,Klaus Zerres,Carsten Bergmann	17
11	Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage ofXLMRgenes 2007 ·Human Mutation ·Guy Froyen,Hilde Van Esch,Marijke Bauters,Karen Hollanders,Suzanna G.M. Frints,Joris Vermeesch,Koenraad Devriendt,Jean‐Pierre Fryns,Peter Marynen	138
12	CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior 2003 ·Human Molecular Genetics ·Suzanna G.M. Frints	112
13	MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation 2003 ·American Journal of Medical Genetics Part A ·Marie Gomot,Chantal Gendrot,Alain Verloès,Martine Raynaud,Albert David,Helger G. Yntema,(unknown),Vera M. Kalscheuer,Suzanna G.M. Frints,Philippe Couvert,Sylvain Briault,Sophie Blesson,Annick Toutain,Jamel Chelly,Vincent Desportes,Claude Moraine	30
14	Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy 2002 ·Nature Genetics ·Petter Strømme,Marie Mangelsdorf,Marie Shaw,Karen M. Lower,M. E. Suzanne Lewis,Hélène Bruyèrè,(unknown),Ági K. Gedeon,Robyn H. Wallace,Ingrid E. Scheffer,Gillian Turner,M. W. Partington,Suzanna G.M. Frints,J. P. Fryns,Grant R. Sutherland,John C. Mulley,Jozef Gécz	317
15	Holoprosencephaly: the Maastricht experience. 2001 ·PubMed ·Ute Moog,(unknown),(unknown),(unknown),(unknown),Suzanna G.M. Frints,(unknown)	23
16	Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations 2001 ·Annales de Génétique ·Suzanna G.M. Frints,J P Fryns,Lieven Lagae,Maria Syrrou,Peter Marynen,Koenraad Devriendt	11
17	Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia 2001 ·Nature Genetics ·Koenraad Devriendt,Annette S. Kim,(unknown),Suzanna G.M. Frints,Marianne Schwartz,Joost J. van den Oord,Gregor Verhoef,Marc Boogaerts,J. P. Fryns,Daoqi You,Michael K. Rosen,Peter Vandenberghe	298
18	NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation 2001 ·Current Biology ·(unknown),Suzanna G.M. Frints,(unknown),Andrea Herold,(unknown),Carlos G. Dotti,Elisa Izaurralde,Peter Marynen,Guy Froyen	64
19	22q11 deletion: the Maastricht experience focussing on some unusual presentations 1999 ·C. T. R. M. Schrander‐Stumpel,Guus Hamers,J.J.M. Engelen,Suzanna G.M. Frints,J. Offermans,Jean‐Pierre Fryns	2
20	De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly 1998 ·American Journal of Medical Genetics ·Suzanna G.M. Frints,Eric Schoenmakers,Eric Smeets,(unknown),Jean‐Pierre Fryns	23

About Suzanna G.M. Frints

Suzanna G.M. Frints is a scholar working on Developmental Biology, Genetics and Pediatrics, Perinatology and Child Health, having authored 39 papers that have together received 1.9k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (11 papers), Genetics and Neurodevelopmental Disorders (10 papers) and Prenatal Screening and Diagnostics (8 papers). The work is most often cited by research in Genetics (1.1k citations), Pediatrics, Perinatology and Child Health (416 citations) and Immunology and Allergy (98 citations). Suzanna G.M. Frints has collaborated with scholars based in Netherlands, Belgium and United States. Frequent co-authors include Christine de Die‐Smulders, Wybo Dondorp, Antina de Jong, Peter Marynen, Guido M. W. R. de Wert, Koenraad Devriendt, Guy Froyen, Jean‐Pierre Fryns, Marianne Schwartz and Gregor Verhoef. Their work appears in journals such as Nature Genetics, Nature Reviews Genetics and Current Biology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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