Pauline Terhal

4.3k citations

28 papers · 1.0k indexed · h-index 18

Co-authors: Jasper van der Smagt Koen L.I. van Gassen Tom G.W. Letteboer Ben C.J. Hamel Marcel M. A. M. Mannens Marleen Simon Jet Bliek Saskia M. Maas
Topics: Genomic variations and chromosomal abnormalities (7 papers)Genetic Syndromes and Imprinting (5 papers)Connective tissue disorders research (5 papers)
Cited by: Genetics Pediatrics, Perinatology and Child Health Molecular Biology
Journals: Journal of Clinical Investigation The American Journal of Human Genetics Human Molecular Genetics
Partner nations: Netherlands United States Germany

In The Last Decade

Pauline Terhal

27 papers receiving 995 citations

Peers

Countries citing papers authored by Pauline Terhal

Since Specialization

Citations

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

Fields of papers citing papers by Pauline Terhal

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Pauline Terhal. 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 Pauline Terhal. The network helps show where Pauline Terhal may publish in the future.

Co-authorship network of co-authors of Pauline Terhal

This figure shows the co-authorship network connecting the top 25 collaborators of Pauline Terhal. A scholar is included among the top collaborators of Pauline Terhal 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 Pauline Terhal. Pauline Terhal 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	Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2 -related osteoporosis 2025 ·JBMR Plus ·(unknown),Ali Oghabian,Kirsi Määttä,(unknown),Riikka E. Mäkitie,Philippe M. Campeau,Pauline Terhal,Lorenzo D. Botto,Vesa M. Olkkonen,Outi Mäkitie,Minna Pekkinen	0
2	Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway 2022 ·eLife ·(unknown),(unknown),(unknown),Dmytro I. Danylchuk,(unknown),(unknown),(unknown),(unknown),Lorenzo D. Botto,Pauline Terhal,Outi Mäkitie,Jacob Piehler,Yeongho Kim,Christopher G. Burd,Andrey S. Klymchenko,Kenji Maeda,Joost C. M. Holthuis	17
3	TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility 2021 ·European Journal of Human Genetics ·(unknown),Erika Leenders,(unknown),Pauline Terhal,Katharina Löhner,Bert B.A. de Vries,Trijnie Dijkhuizen,Yvonne J. Vos,Tuula Rinne,Maarten P. van den Berg,(unknown),Patrick Deelen,Conny M.A. van Ravenswaaij‐Arts,Wilhelmina S. Kerstjens‐Frederikse	15
4	De novo substitutions of TRPM3 cause intellectual disability and epilepsy 2019 ·European Journal of Human Genetics ·David A. Dyment,Pauline Terhal,Cecilie F. Rustad,Kristian Tveten,Christopher Griffith,Parul Jayakar,Marwan Shinawi,Sara Ellingwood,Rosemarie Smith,Koen L.I. van Gassen,Kirsty McWalter,A. Micheil Innes,Matthew A. Lines	44
5	Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia 2019 ·European Journal of Human Genetics ·Pauline Terhal,(unknown),Sjors Middelkamp,Rutger A. J. Nievelstein,Peter G. J. Nikkels,(unknown),Marijn Créton,(unknown),(unknown),Edwin Cuppen,Nine V.A.M. Knoers,Koen L.I. van Gassen	24
6	Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability 2016 ·Genetics in Medicine ·Glen R. Monroe,G. W. J. Frederix,Sanne M. C. Savelberg,Tamar I. de Vries,Karen Duran,Jasper J. van der Smagt,Pauline Terhal,Peter M. van Hasselt,Hester Y. Kroes,Nanda M. Verhoeven‐Duif,Isaäc J. Nijman,Ellen C. Carbo,Koen L.I. van Gassen,Nine Knoers,Anke M. Hövels,Mieke M. van Haelst,Gepke Visser,Gijs van Haaften	125
7	Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome) 2016 ·European Journal of Human Genetics ·Glen R. Monroe,(unknown),Marijn F. Stokman,Pauline Terhal,Marie‐José H. van den Boogaard,Sanne M. C. Savelberg,Lars T. van der Veken,(unknown),Susanne M.A. Lens,Rutger C.C. Hengeveld,Marijn Créton,Nard G. Janssen,Aebele B. Mink van der Molen,(unknown),Rachel H. Giles,Nine V.A.M. Knoers,Gijs van Haaften	13
8	Non-invasive sources of cells with primary cilia from pediatric and adult patients 2015 ·PubMed ·(unknown),Gisela G. Slaats,Marijn F. Stokman,Heleen H. Arts,Ive Logister,Hester Y. Kroes,Kirsten Y. Renkema,Mieke M. van Haelst,Pauline Terhal,Iris A.L.M. van Rooij,Mandy G. Keijzer‐Veen,Nine Knoers,Marc R. Liliën,Michael A.S. Jewett,Rachel H. Giles	27
9	Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB 2014 ·The American Journal of Human Genetics ·Andreas Zankl,Emma L. Duncan,Paul Leo,Graeme R. Clark,Evgeny A. Glazov,Marie-Claude Addor,Troels Herlin,Chong Ae Kim,Bruno Leheup,Jim McGill,Steven McTaggart,(unknown),Anna L. Mitchell,Geert Mortier,Stephen P. Robertson,Marie Schroeder,Pauline Terhal,Matthew A. Brown	3
10	The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V 2014 ·BMC Musculoskeletal Disorders ·(unknown),Aideen McInerney‐Leo,(unknown),Gareth Baynam,(unknown),(unknown),Craig F. Munns,J. E. H. Pruijs,David Sillence,Pauline Terhal,Karena Pryce,Matthew A. Brown,Andreas Zankl,Gethin Thomas,Emma L. Duncan	20
11	Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome 2012 ·Journal of Clinical Investigation ·Nayia Nicolaou,Coert Margadant,Sietske H. Kevelam,Marc R. Liliën,Michiel J.S. Oosterveld,Maaike Kreft,Albertien M. van Eerde,Rolph Pfundt,Pauline Terhal,Bert van der Zwaag,Peter G. J. Nikkels,Norman Sachs,Roel Goldschmeding,Nine V.A.M. Knoers,Kirsten Y. Renkema,Arnoud Sonnenberg	96
12	Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance 2012 ·European Journal of Human Genetics ·Sahar Mansour,Mariëlle E.M. Swinkels,Pauline Terhal,Louise C. Wilson,Philip Rich,Lionel Van Maldergem,Petra Zwijnenburg,Christine M Hall,Stephen P. Robertson,Ruth Newbury‐Ecob	36
13	Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB 2012 ·The American Journal of Human Genetics ·Andreas Zankl,Emma L. Duncan,Paul Leo,Graeme R. Clark,Evgeny A. Glazov,Marie-Claude Addor,Troels Herlin,Chong Ae Kim,Bruno Leheup,Jim McGill,Steven McTaggart,(unknown),Anna L. Mitchell,Geert Mortier,Stephen P. Robertson,Marie Schroeder,Pauline Terhal,Matthew A. Brown	78
14	Discovery of variants unmasked by hemizygous deletions 2012 ·European Journal of Human Genetics ·Ron Hochstenbach,Martin Poot,Isaäc J. Nijman,Ivo Renkens,Karen Duran,Ruben van’t Slot,Ellen van Binsbergen,Bert van der Zwaag,Maartje J. Vogel,Pauline Terhal,Hans Kristian Ploos van Amstel,Wigard P. Kloosterman,Edwin Cuppen	14
15	Complete COL1A1 allele deletions in osteogenesis imperfecta 2010 ·Genetics in Medicine ·Fleur S. van Dijk,(unknown),Ariana Kariminejad,Carlo Marcelis,Astrid S. Plomp,Pauline Terhal,Hanne Meijers‐Heijboer,Marjan M. Weiss,Rick R. van Rijn,Jan M. Cobben,Gerard Pals	33
16	Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus 2010 ·American Journal of Medical Genetics Part A ·Annemieke J.M.H. Verkerk,Rachel Schot,(unknown),Hannie Douben,Pino J. Poddighe,Maarten H. Lequin,Linda S. de Vries,Pauline Terhal,Johanne M D Hahnemann,I.F.M. de Coo,Marie‐Claire Y. de Wit,(unknown),Livia Garavelli,William B. Dobyns,Peter J. van der Spek,Annelies de Klein,Grazia M.S. Mancini	5
17	Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype 2006 ·The American Journal of Human Genetics ·Jet Bliek,Pauline Terhal,(unknown),Saskia M. Maas,Ben C.J. Hamel,Georgette B. Salieb–Beugelaar,Marleen Simon,Tom G.W. Letteboer,Jasper van der Smagt,(unknown),Marcel M. A. M. Mannens	151
18	A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation 2006 ·American Journal of Medical Genetics Part A ·Pauline Terhal,Bernd Rösler,Jürgen Kohlhase	20
19	Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism 2004 ·American Journal of Medical Genetics Part A ·Pauline Terhal,Ralph J. B. Sakkers,Ron Hochstenbach,K. Madan,(unknown),Richard J. Sinke,Jacques C. Giltay	13
20	Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH 2003 ·The American Journal of Human Genetics ·Joris A. Veltman,Yvonne M.H. Versleijen‐Jonkers,(unknown),Irene M. Janssen,Walter van der Vliet,Erik Huys,Joris Vermeesch,Griet Van Buggenhout,Jean‐Pierre Fryns,R.J.C. Admiraal,Pauline Terhal,Didier Lacombe,Ad Geurts van Kessel,Dominique Smeets,Eric Schoenmakers,Conny M.A. van Ravenswaaij‐Arts	83

About Pauline Terhal

Pauline Terhal is a scholar working on Developmental Biology, Genetics and Immunology and Allergy, having authored 28 papers that have together received 1.0k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (7 papers), Genetic Syndromes and Imprinting (5 papers) and Connective tissue disorders research (5 papers). The work is most often cited by research in Genetics (632 citations), Pediatrics, Perinatology and Child Health (220 citations) and Molecular Biology (574 citations). Pauline Terhal has collaborated with scholars based in Netherlands, United States and Germany. Frequent co-authors include Jasper van der Smagt, Koen L.I. van Gassen, Tom G.W. Letteboer, Ben C.J. Hamel, Marcel M. A. M. Mannens, Marleen Simon, Jet Bliek, Saskia M. Maas, Georgette B. Salieb–Beugelaar and Gijs van Haaften. Their work appears in journals such as Journal of Clinical Investigation, The American Journal of Human Genetics and Human Molecular Genetics.

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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