Pernille Mathiesen Tørring

994 total citations
39 papers, 372 citations indexed

About

Pernille Mathiesen Tørring is a scholar working on Genetics, Pulmonary and Respiratory Medicine and Genetics. According to data from OpenAlex, Pernille Mathiesen Tørring has authored 39 papers receiving a total of 372 indexed citations (citations by other indexed papers that have themselves been cited), including 20 papers in Genetics, 15 papers in Pulmonary and Respiratory Medicine and 9 papers in Genetics. Recurrent topics in Pernille Mathiesen Tørring's work include Vascular Anomalies and Treatments (19 papers), Tracheal and airway disorders (13 papers) and Genetic factors in colorectal cancer (4 papers). Pernille Mathiesen Tørring is often cited by papers focused on Vascular Anomalies and Treatments (19 papers), Tracheal and airway disorders (13 papers) and Genetic factors in colorectal cancer (4 papers). Pernille Mathiesen Tørring collaborates with scholars based in Denmark, Germany and United States. Pernille Mathiesen Tørring's co-authors include Anette Drøhse Kjeldsen, Klaus Brusgaard, Lilian Bomme Ousager, Poul Erik Andersen, Henrik Nissen, Martin J. Larsen, Anders Green, Qihua Tan, Anne Marie Jelsig and Sören Möller and has published in prestigious journals such as Nature Communications, SHILAP Revista de lepidopterología and PLoS ONE.

In The Last Decade

Pernille Mathiesen Tørring

35 papers receiving 370 citations

Peers

Countries citing papers authored by Pernille Mathiesen Tørring

Since Specialization

Citations

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

Fields of papers citing papers by Pernille Mathiesen Tørring

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Pernille Mathiesen Tørring. 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 Pernille Mathiesen Tørring. The network helps show where Pernille Mathiesen Tørring may publish in the future.

Co-authorship network of co-authors of Pernille Mathiesen Tørring

This figure shows the co-authorship network connecting the top 25 collaborators of Pernille Mathiesen Tørring. A scholar is included among the top collaborators of Pernille Mathiesen Tørring 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 Pernille Mathiesen Tørring. Pernille Mathiesen Tørring 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	Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia 2025 ·European Journal of Human Genetics ·(unknown), Qin Hao, Klaus Brusgaard, Martin J. Larsen, Bibi Lange, Annette Dam Fialla, (unknown), Jens Kjeldsen, Nicolai Aagaard Schultz, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring	0
2	Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas 2025 ·Nature Communications ·(unknown), Christina Fagerberg, Charlotte Brasch‐Andersen, Pernille Mathiesen Tørring, Britta Schlott Kristiansen, Qin Hao, (unknown), Martin J. Larsen	0
3	Genetics in fetal medicine 2025 ·Ugeskrift for Læger ·(unknown), (unknown), (unknown), (unknown), Martin J. Larsen, (unknown), Pernille Mathiesen Tørring, L. Sperling, Ida Charlotte Bay Lund, (unknown), Anja Ernst, Lone Sunde, Marie Balslev‐Harder, Olav Bjørn Petersen, Stina Lou, Naja Becher, Ida Vogel	0
4	Comprehensive prenatal diagnostics: Exome versus genome sequencing 2023 ·Prenatal Diagnosis ·(unknown), Christina Fagerberg, Charlotte Brasch‐Andersen, Pernille Mathiesen Tørring, Britta Schlott Kristiansen, Qin Hao, L. Sperling, (unknown), (unknown), Eske Bendsen, Lilian Bomme Ousager, Martin J. Larsen	10
5	National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark 2023 ·European Journal of Medical Genetics ·Dorte L. Lildballe, Anja Lisbeth Frederiksen, Bitten Schönewolf‐Greulich, Charlotte Brasch‐Andersen, Charlotte Kvist Lautrup, (unknown), Inge Søkilde Pedersen, Lone Sunde, Lotte Risom, Maria Rasmussen, Mette Bertelsen, Mette Klarskov Andersen, Nanna Dahl Rendtorff, Pernille Axél Gregersen, Pernille Mathiesen Tørring, Sophia Hammer‐Hansen, Susanne E. Boonen, Suzanne Granhøj Lindquist, Trine Bjørg Hammer, Birgitte Rode Diness	0
6	Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study 2023 ·Familial Cancer ·Anne Marie Jelsig, Thomas van Overeem Hansen, (unknown), Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, (unknown), (unknown), Karina Rønlund, Pernille Mathiesen Tørring, Birgitte Bertelsen, Lone Sunde, John Gásdal Karstensen	5
7	Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review 2022 ·Acta Dermato Venereologica ·(unknown), Pernille Mathiesen Tørring, Anette Bygum	6
8	Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death 2021 ·SHILAP Revista de lepidopterología ·(unknown), (unknown), Martin J. Larsen, Britta Schlott Kristiansen, Pernille Mathiesen Tørring	2
9	Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder 2021 ·The American Journal of Human Genetics ·Éva Morava, Ulrich A. Schatz, Pernille Mathiesen Tørring, (unknown), Matthias Baumann, Charlotte Brasch‐Andersen, Nathalie Chevalier, (unknown), (unknown), Tobias B. Haack, Stephen L. Nelson, Sven Potelle, Silvia Radenkovic, Guido T. Bommer, Emile Van Schaftingen, Maria Veiga‐da‐Cunha	11
10	A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly 2019 ·BMC Medical Genetics ·(unknown), Rasmus Ree, (unknown), Pernille Mathiesen Tørring, Kristina P. Sørensen, Mads Damkjær, Sally Ann Lynch, Thomas Arnesen	18
11	Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia 2019 ·Orphanet Journal of Rare Diseases ·(unknown), Claire L. Shovlin, Carolyn M. Millar, Freya Droege, Anette Drøhse Kjeldsen, Guido Manfredi, Patrizia Suppressa, (unknown), Nicole Coote, Annette Dam Fialla, Urban W. Geisthoff, Gennaro Mariano Lenato, (unknown), Fabio Pagella, Martijn C. Post, Carlo Sabbà, Ulrich Sure, Pernille Mathiesen Tørring, Sophie Dupuis‐Girod, Elisabetta Buscarini	25
12	Is MED13L-related intellectual disability a recognizable syndrome? 2018 ·European Journal of Medical Genetics ·Pernille Mathiesen Tørring, Martin J. Larsen, Charlotte Brasch‐Andersen, Lotte Krogh, Maria Kibæk, Lone Walentin Laulund, Niels Ove Illum, (unknown), Antje Wiesener, Bernt Popp, Giuseppe Marangi, Tina Duelund Hjortshøj, Jakob Ek, Ida Vogel, Naja Becher, Laura Roos, Marcella Zollino, Christina Fagerberg	21
13	Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia 2017 ·Clinical Case Reports ·Pernille Mathiesen Tørring, (unknown), Christine í Dali, Poul Erik Andersen, Lilian Bomme Ousager, Klaus Brusgaard, Anette Drøhse Kjeldsen	1
14	20-year follow-up study of Danish HHT patients—survival and causes of death 2016 ·Orphanet Journal of Rare Diseases ·Anette Drøhse Kjeldsen, (unknown), Pernille Mathiesen Tørring, Sören Möller, Anders Green	24
15	Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia 2015 ·Microvascular Research ·Pernille Mathiesen Tørring, Martin J. Larsen, Anette Drøhse Kjeldsen, Lilian Bomme Ousager, Qihua Tan, Klaus Brusgaard	7
16	Long Non-Coding RNA Expression Profiles in Hereditary Haemorrhagic Telangiectasia 2014 ·PLoS ONE ·Pernille Mathiesen Tørring, Martin J. Larsen, Anette Drøhse Kjeldsen, Lilian Bomme Ousager, Qihua Tan, Klaus Brusgaard	23
17	Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency 2014 ·Orphanet Journal of Rare Diseases ·(unknown), Susan M. White, Elizabeth Fitzpatrick, Gabrielle R. Wilson, Greta Gillies, Kate Pope, Hayley S. Mountford, Pernille Mathiesen Tørring, Shane McKee, Anneke T. Vulto‐van Silfhout, Shalini N. Jhangiani, Donna M. Muzny, Richard J. Leventer, Martin B. Delatycki, David J. Amor, Paul J. Lockhart	15
18	A Danish family with dominant deafness-onychodystrophy syndrome 2013 ·Journal of Dermatological Case Reports ·(unknown), Pernille Mathiesen Tørring	2
19	Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia 2012 ·Genetic Testing and Molecular Biomarkers ·Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Klaus Brusgaard	3
20	Functional characterization ofMLH1missense variants identified in lynch syndrome patients 2012 ·Human Mutation ·(unknown), Sascha Emilie Liberti, Anne Lützen, Mark Drost, Inge Bernstein, Mef Nilbert, Mev Dominguez–Valentin, Minna Nyström, Thomas van Overeem Hansen, (unknown), Anne Charlotte Jäger, Niels de Wind, Finn Cilius Nielsen, Pernille Mathiesen Tørring, Lene Juel Rasmussen	15

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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