Mariëtte J.V. Hoffer

3.0k citations

43 papers · 851 indexed · h-index 18

Genetics top 10%
- Genomic variations and chromosomal abnormalities 10
- Genomics and Rare Diseases 4
Pediatrics, Perinatology and Child Health top 5%
- Prenatal Screening and Diagnostics 17
- Fetal and Pediatric Neurological Disorders 9
Endocrinology, Diabetes and Metabolism top 10%
- Diabetes, Cardiovascular Risks, and Lipoproteins 7
Cardiology and Cardiovascular Medicine
- Lipid metabolism and disorders 5
Cancer Research
Surgery
- Lipoproteins and Cardiovascular Health 7
Molecular Biology
- Congenital heart defects research 6

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
Cited by: Genetics Pediatrics, Perinatology and Child Health Endocrinology, Diabetes and Metabolism
Journals: Arteriosclerosis Thrombosis and Vascular Biology (1 paper)Clinical Chemistry (2 papers)Fertility and Sterility (1 paper)
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

The 25 scholars most cited alongside Mariëtte J.V. Hoffer, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Mariëtte J.V. Hoffer Line = papers co-authored together Mariëtte J.V. Hoffer links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options Molecular Genetics and Metabolism ·Susanna M. I. Goorden,Désirée Y. van Haaften–Visser,Maria M. Trętowicz,Ramon Bonte,Elly Bogaerts,Yasir S. Jamal,Sandrien Vrieswijk,Erika Huijser,Regina Bökenkamp,Roel L.F. van der Palen,Mariëtte J.V. Hoffer,Riekelt H. Houtkooper,Frédéric M. Vaz,Gijs W.E. Santen,Jörgen Bierau,Esmeralda Oussoren	2025	0
2	Prenatal Variants of Uncertain Significance (VUS): to report or not to report? European Journal of Human Genetics ·Maayke A. de Koning,Malgorzata I. Srebniak,Esther J. Oldekamp,Donald R. Hahn,Karin E. M. Diderich,Hennie T. Brüggenwirth,Gijs W.E. Santen,Mariëtte J.V. Hoffer,Manon Suerink	2025	0
3	Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome? Prenatal Diagnosis ·Geerke M. Eggenhuizen,Attie T. J. I. Go,Mariëtte J.V. Hoffer,Eveline Goedegebuur‐Zwalua,Malgorzata I. Srebniak,Diane Van Opstal	2024	2
4	The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study Prenatal Diagnosis ·Geerke M. Eggenhuizen,Attie T. J. I. Go,Zoë Sauter,Mariëtte J.V. Hoffer,Monique C. Haak,Geert Geeven,Karin E. M. Diderich,Marieke Joosten,Myrthe van den Born,Malgorzata I. Srebniak,Diane Van Opstal	2024	10
5	Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1 American Journal of Medical Genetics Part A ·Saskia Koene,Jeroen Knijnenburg,Mariëtte J.V. Hoffer,Fleur Zwanenburg,Monique C. Haak,Heiko Locher,Edward S. A. van Beelen,Gijs W.E. Santen,Liselotte J. C. Rotteveel	2022	2
6	Prenatal exome sequencing: A useful tool for the fetal neurologist Clinical Genetics ·Maayke A. de Koning,Mariëtte J.V. Hoffer,Esther Nibbeling,Emilia K. Bijlsma,Menno J. P. Toirkens,Phebe N. Adama‐Scheltema,E. J. T. Verweij,Marieke B. Veenhof,Gijs W.E. Santen,Cacha Peeters‐Scholte	2021	23
7	ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants Neurogenetics ·Katja Kloth,Bernarda Lozić,Julia Tagoe,Mariëtte J.V. Hoffer,Amelie van der Ven,Hölger Thiele,Janine Altmüller,Christian Kubisch,Ping Yee Billie Au,Jonas Denecke,Emilia K. Bijlsma,Davor Lessel	2021	14
8	The prevalence of genetic diagnoses in fetuses with severe congenital heart defects Genetics in Medicine ·A. van Nisselrooij,Malou A. Lugthart,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	2020	48
9	From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care Genetics in Medicine ·Maayke A. de Koning,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	2019	39
10	Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders 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	2017	30
11	Copy number variants in patients with short stature 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,Hedi L Claahsen-van de Grinten,Sandy A. van Gool,Martijn H. Breuning,Monique Losekoot,Jeffrey Baron,Claudia Ruivenkamp,Jan M. Wit	2013	57
12	Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis Archives of Gynecology and Obstetrics ·Elisabeth M. A. Boormans,Erwin Birnie,Mariëtte J.V. Hoffer,Merryn Macville,Robert‐Jan Galjaard,G. Heleen Schuring‐Blom,Shama L. Bhola,Karin Huijsdens,Arie P.T. Smits,J. M. M. van Lith	2011	4
13	Reduced copy number of DAZ genes in subfertile and infertile men 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	2002	45
14	Gender-related association between the −93T→G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia 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	1998	25
15	The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia 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	1996	63
16	Effect of apolipoprotein E and insulin resistance on VLDL particles in combined hyperlipidemic patients 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	1996	5
17	Apolipoprotein E1-Hammersmith (Lys146 → Asn;Arg147 → Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia Atherosclerosis ·Mariëtte J.V. Hoffer,S Niththyananthan,Rossitza P. Naoumova,Mohammed Kibirige,Rune R. Frants,Louis M. Havekes,Gilbert R. Thompson	1996	24
18	The Apolipoprotein C2-Linked (Acl) Gene: A New Gene within the Mouse Apolipoprotein e-c1-c2 Gene Cluster Genomics ·Marga M. van Eck,Mariëtte J.V. Hoffer,Louis M. Havekes,Rune R. Frants,Marten H. Hofker	1994	10
19	Evolutionary Conservation of the Mouse Apolipoprotein e-c1-c2 Gene Cluster: Structure and Genetic Variability in Inbred Mice Genomics ·Mariëtte J.V. Hoffer,Marten H. Hofker,Marga M. van Eck,Louis M. Havekes,Rune R. Frants	1993	23
20	Nucleotide sequence comparison of five human pepsinogen A (PGA) genes: Evolution of the PGA multigene family Genomics ·Marie Pauline J. Evers,B. Zelle,Jan Paul Bebelman,Victor van Beusechem,Leonard S. Kraakman,Mariëtte J.V. Hoffer,Jan C. Pronk,W.H. Mager,Rudi J. Planta,Aldur W. Eriksson,Rune R. Frants	1989	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), Fetal and Pediatric Neurological Disorders (9 papers), Lipoproteins and Cardiovascular Health (7 papers), Diabetes, Cardiovascular Risks, and Lipoproteins (7 papers), Congenital heart defects research (6 papers), Lipid metabolism and disorders (5 papers) and Genomics and Rare Diseases (4 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.

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