Pauline Terhal

4.3k total citations
28 papers, 1.0k citations indexed

About

Pauline Terhal is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Pauline Terhal has authored 28 papers receiving a total of 1.0k indexed citations (citations by other indexed papers that have themselves been cited), including 20 papers in Genetics, 15 papers in Molecular Biology and 5 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Pauline Terhal's work include Genomic variations and chromosomal abnormalities (7 papers), Genetic Syndromes and Imprinting (5 papers) and Connective tissue disorders research (5 papers). Pauline Terhal is often cited by papers focused on Genomic variations and chromosomal abnormalities (7 papers), Genetic Syndromes and Imprinting (5 papers) and Connective tissue disorders research (5 papers). Pauline Terhal collaborates with scholars based in Netherlands, United States and Germany. Pauline Terhal's 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 and has published in prestigious journals such as Journal of Clinical Investigation, The American Journal of Human Genetics and Human Molecular Genetics.

In The Last Decade

Pauline Terhal

27 papers receiving 995 citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Pauline Terhal Netherlands	18	632	574	220	79	70	28	1.0k
David B. Everman United States	20	466 0.7×	657 1.1×	146 0.7×	84 1.1×	51 0.7×	39	1.1k
Annalisa Vetro Italy	20	552 0.9×	524 0.9×	203 0.9×	43 0.5×	60 0.9×	51	1.0k
Rita Genesio Italy	19	463 0.7×	496 0.9×	204 0.9×	52 0.7×	35 0.5×	52	998
Alma Kuechler Germany	19	722 1.1×	649 1.1×	238 1.1×	97 1.2×	66 0.9×	46	1.2k
Michael H. Guo United States	20	509 0.8×	603 1.1×	86 0.4×	62 0.8×	49 0.7×	33	1.2k
Boris Keren France	21	515 0.8×	649 1.1×	154 0.7×	65 0.8×	33 0.5×	70	1.1k
Carol Saunders United States	22	635 1.0×	744 1.3×	110 0.5×	95 1.2×	87 1.2×	59	1.3k
Fabiola Quintero‐Rivera United States	16	907 1.4×	634 1.1×	357 1.6×	41 0.5×	61 0.9×	54	1.4k
Miriam Elbracht Germany	20	541 0.9×	588 1.0×	295 1.3×	39 0.5×	53 0.8×	63	1.1k
Christel Thauvin‐Robinet France	21	532 0.8×	762 1.3×	116 0.5×	97 1.2×	48 0.7×	80	1.4k

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

Oghabian, Ali, Kirsi Määttä, Riikka E. Mäkitie, et al.. (2025). Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2 -related osteoporosis. JBMR Plus. 9(10). ziaf128–ziaf128.

Danylchuk, Dmytro I., Lorenzo D. Botto, Pauline Terhal, et al.. (2022). Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway. eLife. 11. 17 indexed citations

Leenders, Erika, Pauline Terhal, Katharina Löhner, et al.. (2021). TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility. European Journal of Human Genetics. 29(11). 1669–1676. 15 indexed citations

Dyment, David A., Pauline Terhal, Cecilie F. Rustad, et al.. (2019). De novo substitutions of TRPM3 cause intellectual disability and epilepsy. European Journal of Human Genetics. 27(10). 1611–1618. 44 indexed citations

Terhal, Pauline, Sjors Middelkamp, Rutger A. J. Nievelstein, et al.. (2019). Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. European Journal of Human Genetics. 28(1). 31–39. 24 indexed citations

Monroe, Glen R., G. W. J. Frederix, Sanne M. C. Savelberg, et al.. (2016). Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. Genetics in Medicine. 18(9). 949–956. 125 indexed citations

Monroe, Glen R., Marijn F. Stokman, Pauline Terhal, et al.. (2016). Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). European Journal of Human Genetics. 24(12). 1752–1760. 13 indexed citations

Slaats, Gisela G., Marijn F. Stokman, Heleen H. Arts, et al.. (2015). Non-invasive sources of cells with primary cilia from pediatric and adult patients. PubMed. 4(1). 8–8. 27 indexed citations

Zankl, Andreas, Emma L. Duncan, Paul Leo, et al.. (2014). Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB. The American Journal of Human Genetics. 94(4). 643–643. 3 indexed citations

10.

McInerney‐Leo, Aideen, Gareth Baynam, Craig F. Munns, et al.. (2014). 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. BMC Musculoskeletal Disorders. 15(1). 107–107. 20 indexed citations

11.

Nicolaou, Nayia, Coert Margadant, Sietske H. Kevelam, et al.. (2012). Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. Journal of Clinical Investigation. 122(12). 4375–4387. 96 indexed citations

12.

Mansour, Sahar, Mariëlle E.M. Swinkels, Pauline Terhal, et al.. (2012). Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. European Journal of Human Genetics. 20(10). 1024–1031. 36 indexed citations

13.

Zankl, Andreas, Emma L. Duncan, Paul Leo, et al.. (2012). Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB. The American Journal of Human Genetics. 90(3). 494–501. 78 indexed citations

14.

Hochstenbach, Ron, Martin Poot, Isaäc J. Nijman, et al.. (2012). Discovery of variants unmasked by hemizygous deletions. European Journal of Human Genetics. 20(7). 748–753. 14 indexed citations

15.

Dijk, Fleur S. van, Ariana Kariminejad, Carlo Marcelis, et al.. (2010). Complete COL1A1 allele deletions in osteogenesis imperfecta. Genetics in Medicine. 12(11). 736–741. 33 indexed citations

16.

Verkerk, Annemieke J.M.H., Rachel Schot, Hannie Douben, et al.. (2010). Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. American Journal of Medical Genetics Part A. 152A(6). 1488–1497. 5 indexed citations

17.

Bliek, Jet, Pauline Terhal, Saskia M. Maas, et al.. (2006). Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype. The American Journal of Human Genetics. 78(4). 604–614. 151 indexed citations

18.

Terhal, Pauline, Bernd Rösler, & Jürgen Kohlhase. (2006). A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. American Journal of Medical Genetics Part A. 140A(3). 222–226. 20 indexed citations

19.

Terhal, Pauline, Ralph J. B. Sakkers, Ron Hochstenbach, et al.. (2004). Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism. American Journal of Medical Genetics Part A. 130A(4). 410–414. 13 indexed citations

20.

Veltman, Joris A., Yvonne M.H. Versleijen‐Jonkers, Irene M. Janssen, et al.. (2003). Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH. The American Journal of Human Genetics. 72(6). 1578–1584. 83 indexed citations

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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