Mariëtte J.V. Hoffer

3.0k citations

43 papers · 851 indexed · h-index 18

Genetics top 10%
Molecular Biology
Pediatrics, Perinatology and Child Health top 5%
Surgery
Endocrinology, Diabetes and Metabolism top 10%

Co-authors: Louis M. Havekes Rune R. Frants Claudia Ruivenkamp Gijs W.E. Santen Marjolein Kriek Johan T. den Dunnen Christi J. van Asperen Yu Sun
Topics: Prenatal Screening and Diagnostics (17 papers)Genomic variations and chromosomal abnormalities (10 papers)Fetal and Pediatric Neurological Disorders (9 papers)
Cited by: Genetics Pediatrics, Perinatology and Child Health Endocrinology, Diabetes and Metabolism
Journals: Arteriosclerosis Thrombosis and Vascular Biology Clinical Chemistry Fertility and Sterility
Partner nations: Netherlands United States United Kingdom

In The Last Decade

Mariëtte J.V. Hoffer

39 papers receiving 834 citations

Peers

Countries citing papers authored by Mariëtte J.V. Hoffer

Since Specialization

Citations

This map shows the geographic impact of Mariëtte J.V. Hoffer'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 Mariëtte J.V. Hoffer with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Mariëtte J.V. Hoffer more than expected).

Fields of papers citing papers by Mariëtte J.V. Hoffer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Mariëtte J.V. Hoffer. 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 Mariëtte J.V. Hoffer. The network helps show where Mariëtte J.V. Hoffer may publish in the future.

Co-authorship network of co-authors of Mariëtte J.V. Hoffer

This figure shows the co-authorship network connecting the top 25 collaborators of Mariëtte J.V. Hoffer. A scholar is included among the top collaborators of Mariëtte J.V. Hoffer 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 Mariëtte J.V. Hoffer. Mariëtte J.V. Hoffer 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	Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options 2025 ·Molecular Genetics and Metabolism ·Susanna M. I. Goorden,(unknown),(unknown),(unknown),(unknown),Yasir S. Jamal,(unknown),(unknown),Regina Bökenkamp,Roel L.F. van der Palen,Mariëtte J.V. Hoffer,Riekelt H. Houtkooper,Frédéric M. Vaz,Gijs W.E. Santen,Jörgen Bierau,(unknown)	0
2	Prenatal Variants of Uncertain Significance (VUS): to report or not to report? 2025 ·European Journal of Human Genetics ·(unknown),Malgorzata I. Srebniak,(unknown),Donald R. Hahn,Karin E. M. Diderich,Hennie T. Brüggenwirth,Gijs W.E. Santen,Mariëtte J.V. Hoffer,Manon Suerink	0
3	Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome? 2024 ·Prenatal Diagnosis ·(unknown),Attie T. J. I. Go,Mariëtte J.V. Hoffer,(unknown),Malgorzata I. Srebniak,Diane Van Opstal	2
4	The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study 2024 ·Prenatal Diagnosis ·(unknown),Attie T. J. I. Go,(unknown),Mariëtte J.V. Hoffer,Monique C. Haak,(unknown),Karin E. M. Diderich,Marieke Joosten,Myrthe van den Born,Malgorzata I. Srebniak,Diane Van Opstal	10
5	Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1 2022 ·American Journal of Medical Genetics Part A ·Saskia Koene,Jeroen Knijnenburg,Mariëtte J.V. Hoffer,(unknown),Monique C. Haak,Heiko Locher,(unknown),Gijs W.E. Santen,Liselotte J. C. Rotteveel	2
6	Prenatal exome sequencing: A useful tool for the fetal neurologist 2021 ·Clinical Genetics ·(unknown),Mariëtte J.V. Hoffer,Esther Nibbeling,Emilia K. Bijlsma,(unknown),(unknown),E. J. T. Verweij,(unknown),Gijs W.E. Santen,Cacha Peeters‐Scholte	23
7	ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants 2021 ·Neurogenetics ·Katja Kloth,Bernarda Lozić,(unknown),Mariëtte J.V. Hoffer,(unknown),Hölger Thiele,Janine Altmüller,Christian Kubisch,Ping Yee Billie Au,Jonas Denecke,Emilia K. Bijlsma,Davor Lessel	14
8	The prevalence of genetic diagnoses in fetuses with severe congenital heart defects 2020 ·Genetics in Medicine ·(unknown),(unknown),Sally‐Ann B. Clur,Ingeborg H. Linskens,Eva Pajkrt,Lukas Rammeloo,Lieke Rozendaal,Nico A. Blom,J. M. M. van Lith,Alida C. Knegt,Mariëtte J.V. Hoffer,Emmelien Aten,Gijs W.E. Santen,Monique C. Haak	48
9	From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care 2019 ·Genetics in Medicine ·(unknown),Monique C. Haak,P. N. Adama van Scheltema,Cacha Peeters‐Scholte,Tamara T. Koopmann,Esther Nibbeling,Emmelien Aten,Nicolette S. den Hollander,Claudia Ruivenkamp,Mariëtte J.V. Hoffer,Gijs W.E. Santen	39
10	Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders 2017 ·Human Mutation ·Elliot Sollis,Pelagia Derizioti,Hirotomo Saitsu,Noriko Miyake,Naomichi Matsumoto,Mariëtte J.V. Hoffer,Claudia Ruivenkamp,Mariëlle Alders,Nobuhiko Okamoto,Emilia K. Bijlsma,Astrid S. Plomp,Simon E. Fisher	30
11	Copy number variants in patients with short stature 2013 ·European Journal of Human Genetics ·Hermine A. van Duyvenvoorde,Julian C. Lui,Sarina G. Kant,Wilma Oostdijk,Antoinet C.J. Gijsbers,Mariëtte J.V. Hoffer,Marcel Karperien,M.J.E. Walenkamp,C. Noordam,Paul G. Voorhoeve,Verónica Mericq,Alberto M. Pereira,(unknown),(unknown),Martijn H. Breuning,Monique Losekoot,Jeffrey Baron,Claudia Ruivenkamp,Jan M. Wit	57
12	Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis 2011 ·Archives of Gynecology and Obstetrics ·(unknown),Erwin Birnie,Mariëtte J.V. Hoffer,Merryn Macville,Robert‐Jan Galjaard,G. Heleen Schuring‐Blom,(unknown),(unknown),Arie P.T. Smits,J. M. M. van Lith	4
13	Reduced copy number of DAZ genes in subfertile and infertile men 2002 ·Fertility and Sterility ·Jan W. A. de Vries,Mariëtte J.V. Hoffer,Sjoerd Repping,J.M.N. Hoovers,N. J. Leschot,Fulco van der Veen	45
14	Gender-related association between the −93T→G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia 1998 ·Atherosclerosis ·Mariëtte J.V. Hoffer,S.J.H. Bredie,Harold Snieder,Paul W.A. Reymer,Pierre N.M. Demacker,Louis M. Havekes,Dorret I. Boomsma,Anton F. H. Stalenhoef,Rune R. Frants,Johannes J.P. Kastelein	25
15	The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia 1996 ·Atherosclerosis ·Mariëtte J.V. Hoffer,S.J.H. Bredie,Dorret I. Boomsma,Paul W.A. Reymer,Johannes J.P. Kastelein,Peter de Knijff,Pierre N.M. Demacker,Anton F. H. Stalenhoef,Louis M. Havekes,Rune R. Frants	63
16	Effect of apolipoprotein E and insulin resistance on VLDL particles in combined hyperlipidemic patients 1996 ·Atherosclerosis ·Eric J.G. Sijbrands,Rudi G. J. Westendorp,Mariëtte J.V. Hoffer,Rune R. Frants,A. Edo Meinders,John H. M. Souverijn,J.A. Gevers Leuven,Arnoud van der Laarse,Louis M. Havekes,A.H.M. Smelt	5
17	Apolipoprotein E1-Hammersmith (Lys146 → Asn;Arg147 → Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia 1996 ·Atherosclerosis ·Mariëtte J.V. Hoffer,(unknown),Rossitza P. Naoumova,(unknown),Rune R. Frants,Louis M. Havekes,Gilbert R. Thompson	24
18	The Apolipoprotein C2-Linked (Acl) Gene: A New Gene within the Mouse Apolipoprotein e-c1-c2 Gene Cluster 1994 ·Genomics ·(unknown),Mariëtte J.V. Hoffer,Louis M. Havekes,Rune R. Frants,(unknown)	10
19	Evolutionary Conservation of the Mouse Apolipoprotein e-c1-c2 Gene Cluster: Structure and Genetic Variability in Inbred Mice 1993 ·Genomics ·Mariëtte J.V. Hoffer,Marten H. Hofker,(unknown),Louis M. Havekes,Rune R. Frants	23
20	Nucleotide sequence comparison of five human pepsinogen A (PGA) genes: Evolution of the PGA multigene family 1989 ·Genomics ·(unknown),B. Zelle,Jan Paul Bebelman,(unknown),(unknown),Mariëtte J.V. Hoffer,Jan C. Pronk,W.H. Mager,Rudi J. Planta,Aldur W. Eriksson,Rune R. Frants	36

About Mariëtte J.V. Hoffer

Mariëtte J.V. Hoffer is a scholar working on Pediatrics, Perinatology and Child Health, Genetics and Endocrinology, Diabetes and Metabolism, having authored 43 papers that have together received 851 indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (17 papers), Genomic variations and chromosomal abnormalities (10 papers) and Fetal and Pediatric Neurological Disorders (9 papers). The work is most often cited by research in Genetics (335 citations), Pediatrics, Perinatology and Child Health (221 citations) and Endocrinology, Diabetes and Metabolism (155 citations). Mariëtte J.V. Hoffer has collaborated with scholars based in Netherlands, United States and United Kingdom. Frequent co-authors include Louis M. Havekes, Rune R. Frants, Claudia Ruivenkamp, Gijs W.E. Santen, Marjolein Kriek, Johan T. den Dunnen, Christi J. van Asperen, Yu Sun, Terry Vrijenhoek and Anton F. H. Stalenhoef. Their work appears in journals such as Arteriosclerosis Thrombosis and Vascular Biology, Clinical Chemistry and Fertility and Sterility.

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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