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Pernille Mathiesen Tørring

hht center

19H-index
80Paper Count
994Citation Count
Published Papers 17
Publication Date
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Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia
errEuropean Journal of Human Genetics
IF4.6
err2025-10-29
err0
errOAAI
errPernille Darre Haahr; Qin Hao; Klaus Brusgaard; Martin Jakob Larsen; Bibi Lange; Annette Dam Fialla; Mikkel Seremet Kofoed; Jens Kjeldsen; Nicolai Aagaard Schultz; Anette Drøhse Kjeldsen; Pernille Mathiesen Tørring
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Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas
errNature Communications
IF15.7
err2025-08-23
err0
errOAAI
errIeva Miceikaite; Christina Fagerberg; Charlotte Brasch-Andersen; Pernille M. Torring; Britta Schlott Kristiansen; Qin Hao; Lene Sperling; Martin J. Larsen
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
erramerican journal of human genetics
IF0
err2025-05-22
err0
errOAAI
errMichele Nicastro; Alexa M.C. Vermeer; Pieter G. Postema; Rafik Tadros; Forrest Z. Bowling; Hildur M. Aegisdottir; Vinicius Tragante; Lukas Mach; Alex V. Postma; Elisabeth M. Lodder; Karel van Duijvenboden; Rob Zwart; Leander Beekman; Lingshuang Wu; Sean J. Jurgens; Paul A. van der Zwaag; Mariëlle Alders; Mona Allouba; Yasmine Aguib; J. Luis Santome; David de Una; Lorenzo Monserrat; Antonio M.A. Miranda; Kazumasa Kanemaru; James Cranley; Ingeborg E. van Zeggeren; Eleonora M.A. Aronica; Michela Ripolone; Simona Zanotti; Gardar Sveinbjornsson; Erna V. Ivarsdottir; Hilma Hólm; Daníel F. Guðbjartsson; Ástrós Th. Skúladóttir; Kári Stefánsson; Lincoln Nadauld; Kirk U. Knowlton; Sisse Rye Ostrowski; Erik Sørensen; Ole Birger Vesterager Pedersen; Jonas Ghouse; Søren A. Rand; Henning Bundgaard; Henrik Ullum; Christian Erikstrup; Bitten Aagaard; Mie Topholm Bruun; Mette Christiansen; Henrik K. Jensen; Deanna Alexis Carere; Christopher T. Cummings; Kristen Fishler; Pernille Mathiesen Tørring; Klaus Brusgaard; Trine Maxel Juul; Lotte Saaby; Bo Gregers Winkel; Jens Mogensen; Francesco Fortunato; Giacomo Pietro Comi; Dario Ronchi; J. Peter van Tintelen; Michela Noseda; Michael V. Airola; Imke Christiaans; Arthur A.M. Wilde; Ronald Wilders; Sally-Ann Clur; Arie O. Verkerk; Connie R. Bezzina; Najim Lahrouchi
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Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing
errOBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
err2024-05-01
err0
PREAI
errMiceikaite, Ieva; Hao, Qin; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Torring, Pernille M.; Kristiansen, Britta S.; Ousager, Lilian B.; Sperling, Lene; Ibsen, Mette H.; Loser, Katrin; Larsen, Martin J.
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errSave
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2023-11-23
err9
PREAI
errMiceikaite, Ieva; Hao, Qin; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Torring, Pernille M.; Kristiansen, Britta S.; Ousager, Lilian B.; Sperling, Lene; Ibsen, Mette H.; Loser, Katrin; Larsen, Martin J.
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
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Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-08-29
err7
errOAAI
errJelsig, Anne Marie; Kjeldsen, Anette; Christensen, Lise Lotte; Bertelsen, Birgitte; Karstensen, John Gasdal; Brusgaard, Klaus; Torring, Pernille M.
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errSave
Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review
errACTA DERMATO-VENEREOLOGICA
IF3.7
err2022-03-07
err6
errOAAI
errBrix, Anna Trier Heiberg; Torring, Pernille Mathiesen; Bygum, Anette
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errSave
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2021-06-01
err15
errOAAI
errMorava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria
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errSave
DOORS syndrome and a recurrent truncating ATP6V1B2 variant (Sep, 10.1038/s41436-020-00950-9, 2020)
errGENETICS IN MEDICINE
IF6.2
err2021-01-01
err1
errOAAI
errBeauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F.; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M.; Zadori, Denes; Castiglioni, Claudia; Tranebjaerg, Lisbeth; Torring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M.; Hennekam, Raoul C. M.; Campeau, Philippe M.
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DOORS syndrome and a recurrent truncatingATP6V1B2variant
errGENETICS IN MEDICINE
IF6.2
err2021-01-01
err23
errOAAI
errBeauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F.; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M.; Zadori, Denes; Castiglioni, Claudia; Tranebjaerg, Lisbeth; Torring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M.; Hennekam, Raoul C. M.; Campeau, Philippe M.
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Comorbidity among HHT patients and their controls in a 20years follow-up period
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2018-12-14
err6
errOAAI
errAagaard, Katrine Saldern; Kjeldsen, Anette Drohse; Torring, Pernille Mathiesen; Green, Anders
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2017-06-01
err128
errOAAI
errGabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J.; Stromme, Petter; Rosenfeld, Jill A.; Shao, Yunru; Craigen, William J.; Schaaf, Christian P.; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D.; Nugent, Kimberly M.; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjorg; Chambon, Pascal; Patrier, Sophie; Lynch, Sally A.; Kjaergaard, Susanne; Torring, Pernille M.; Brasch-Andersen, Charlotte; Ronan, Anne; van Haeringen, Arie; Anderson, Peter J.; Powis, Zoe; Brunner, Han G.; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H. M.; van Bon, Bregje W. M.; Lelieveld, Stefan; Gilissen, Christian; Nillesen, Willy M.; Vissers, Lisenka E. L. M.; Gecz, Jozef; Koolen, David A.; Testa, Giuseppe; de Vries, Bert B. A.
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20-year follow-up study of Danish HHT patients-survival and causes of death
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2016-11-22
err27
errOAAI
errKjeldsen, Anette; Aagaard, Katrine Saldern; Torring, Pernille Mathiesen; Möller, Sören; Green, Anders
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Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2014-03-27
err21
errOAAI
errSim, Joe C. H.; White, Susan M.; Fitzpatrick, Elizabeth; Wilson, Gabrielle R.; Gillies, Greta; Pope, Kate; Mountford, Hayley S.; Torring, Pernille M.; Mckee, Shane; Vulto-van Silfhout, Anneke T.; Jhangiani, Shalini N.; Muzny, Donna M.; Leventer, Richard J.; Delatycki, Martin B.; Amor, David J.; Lockhart, Paul J.
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Functional characterization of MLH1 missense variants identified in lynch syndrome patients
errHUMAN MUTATION
IF3.7
err2012-07-23
err20
errOAAI
errAndersen, Sofie Dabros; Liberti, Sascha Emilie; Lutzen, Anne; Drost, Mark; Bernstein, Inge; Nilbert, Mef; Dominguez, Mev; Nystrom, Minna; Hansen, Thomas Van Overeem; Christoffersen, Janus Wiese; Jager, Anne Charlotte; de Wind, Niels; Nielsen, Finn Cilius; Torring, Pernille M.; Rasmussen, Lene Juel
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Chronic breast pain after breast-conserving therapy
errINTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS
IF6.5
err2007-11-01
err2
errOAAI
errJohansen, J.; Torring, P. M.; Overgaard, M.
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Research Directions

No research directions
Co-authors
Cooperation Journals
D
Donna M. Muzny
H-index: 156 · Papers: 693
A
Arthur A.M. Wilde
H-index: 149 · Papers: 1.2K
D
Daníel F. Guðbjartsson
H-index: 143 · Papers: 536
E
Eleonora Aronica
H-index: 115 · Papers: 766
R
Raoul C. M. Hennekam
H-index: 107 · Papers: 846
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