Eggermann Thomas (Thomas Eggermann, T Eggermann)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 46

Top Venues

Genes

Translational psychiatry

Clinical genetics

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Eggermann Thomas
Human Reproduction and Disturbed Genomic Imprinting. Genes 15 (2) (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Eggermann Thomas
Human Reproduction and Disturbed Genomic Imprinting. Genes 15 (2) (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Eggermann Thomas
Human Reproduction and Disturbed Genomic Imprinting. Genes 15 (2) (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Eggermann Thomas
Human Reproduction and Disturbed Genomic Imprinting. Genes 15 (2) (2024)
Arnim Johannes Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F Hipp, Bhim M Adhikari, Peter Kochunov, Suresh D Muthukumaraswamy, Anna Forsyth, Eggermann Thomas, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. Translational psychiatry 13 (1) (2023)
Andreas Dufke, Eggermann Thomas, Karl Oliver Kagan, Markus Hoopmann, Miriam Elbracht
Prenatal testing for imprinting disorders: A clinical perspective. Prenatal diagnosis (2023)
Arnim Johannes Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F Hipp, Bhim M Adhikari, Peter Kochunov, Suresh D Muthukumaraswamy, Anna Forsyth, Eggermann Thomas, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. Translational psychiatry 13 (1) (2023)
Jasmin Beygo, Silvia Russo, Pierpaola Tannorella, Gijs W E Santen, Andreas Dufke, Elia Schlaich, Eggermann Thomas
Prenatal testing for imprinting disorders: A laboratory perspective. Prenatal diagnosis (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Arnim Johannes Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F Hipp, Bhim M Adhikari, Peter Kochunov, Suresh D Muthukumaraswamy, Anna Forsyth, Eggermann Thomas, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. Translational psychiatry 13 (1) (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Elia Schlaich, Wouter H G Hubens, Eggermann Thomas
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions. Molecular genetics & genomic medicine (2023)
Arnim Johannes Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F Hipp, Bhim M Adhikari, Peter Kochunov, Suresh D Muthukumaraswamy, Anna Forsyth, Eggermann Thomas, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. Translational psychiatry 13 (1) (2023)
Arnim Johannes Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F Hipp, Bhim M Adhikari, Peter Kochunov, Suresh D Muthukumaraswamy, Anna Forsyth, Eggermann Thomas, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. Translational psychiatry 13 (1) (2023)
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Eggermann Thomas, Danique Beijer, Jana Šoukalová, Matilde Laura, Alexander M Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Y Debus, Shawna M E Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta M Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra-Ramírez, Maryse Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques Junior, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello-Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji M Devassikutty, Sheela Nampoothiri, Maria J Rodovalho Doriqui, Wolfgang Müller-Felber, Katharina Vill, Tobias B Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye S Bolgül, Yesim Parman, Pavel Seeman, Angelika Lampert, Jörg B Schulz, John N Wood, James J Cox, Michaela Auer-Grumbach, Vincent Timmerman, Jonathan de Winter, Andreas C Themistocleous, Michael Shy, David L H Bennett, Jonathan Baets, Christian A Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C Geoffrey Woods, Mary M Reilly, Ingo Kurth
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : a journal of neurology (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C S Hokken-Koelega, Miriam Elbracht, Eggermann Thomas
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives. Endocrine connections 11 (11) (2022)
Martin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, Licinio Manco, Celeste Bento, Eggermann Thomas, Ingo Kurth, Edgar Jost, Tim H Brümmendorf, Roland Fuchs
Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling. Clinical case reports 10 (3) (2022)
Eggermann Thomas, Eamonn R Maher, Christian P Kratz, Dirk Prawitt
Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice. Cancers 14 (13) (2022)
Eggermann Thomas, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Perez de Nanclares, Paola Lombardi, I Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R Maher, Zeynep Tümer
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clinical epigenetics 14 (1) (2022)
Eggermann Thomas
Recurrent small deletions in KCNQ1OT1 : a challenge for pathogenicity prediction. Journal of medical genetics (2022)
Eggermann Thomas, Justin H Davies, Maithé Tauber, Erica van den Akker, Anita Hokken-Koelega, Gudmundur Johansson, Irène Netchine
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network. Genes 12 (4) (2021)
Eggermann Thomas
Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure. Geburtshilfe und Frauenheilkunde 81 (7) (2021)
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht, Eggermann Thomas
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet journal of rare diseases 16 (1) (2021)
Eggermann Thomas, Matthias Begemann, Lutz Pfeiffer
Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains. Clinical epigenetics 13 (1) (2021)
Miriam Elbracht, Robert Meyer, Kim Kricheldorf, Deniz Gezer, Eggermann Thomas, Beate Betz, Ingo Kurth, Lino L Teichmann, Tim Henrik Brümmendorf, Ulrich Germing, Susanne Isfort, Steffen Koschmieder
Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms. Blood advances 5 (17) (2021)
Robert Meyer, Miriam Elbracht, Thomas Opladen, Eggermann Thomas
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome. American journal of medical genetics. Part A 182 (11) (2020)
Eggermann Thomas, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J Musholt, Martin Zenker, Dirk Prawitt, Alberto M Pereira, Olaf Hiort, null null
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). Orphanet journal of rare diseases 15 (1) (2020)
Tina Duelund Hjortshøj, Anna R Sørensen, Melodi Yusibova, Bo M Hansen, Morten Dunø, Marie Balslev-Harder, Karen Grønskov, Johanna M van Hagen, Abeltje M Polstra, Eggermann Thomas, Martijn J J Finken, Zeynep Tümer
upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts. Clinical genetics 97 (6) (2020)
Eggermann Thomas, Florian Kraft, Katja Kloth, Eva Klopocki, Irina Hüning, Maja Hempel, Erdmute Kunstmann
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5. Clinical genetics 98 (4) (2020)
Eggermann Thomas, Gundula Kadgien, Matthias Begemann, Miriam Elbracht
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. European journal of human genetics : EJHG 29 (4) (2020)
Eggermann Thomas
Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics. Genes 11 (12) (2020)
Eggermann Thomas, Florian Kraft, Eva Lausberg, Katrin Ergezinger, Erdmute Kunstmann
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting. Journal of medical genetics 58 (3) (2020)
Eggermann Thomas, Johanna Brück, Cordula Knopp, György Fekete, Christian Kratz, Velibor Tasic, Ingo Kurth, Miriam Elbracht, Katja Eggermann, Matthias Begemann
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important. Journal of molecular medicine (Berlin, Germany) 98 (10) (2020)
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey, Herdit Schüler, Sabine Busse, Martin G Häusler, Klaus Zerres, Ingo Kurth, Eggermann Thomas, Miriam Elbracht
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Clinical genetics 98 (4) (2020)
Carla Eßinger, Stephanie Karch, Ute Moog, György Fekete, Anna Lengyel, Eva Pinti, Eggermann Thomas, Matthias Begemann
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome. Clinical epigenetics 12 (1) (2020)
Deborah J G Mackay, Jet Bliek, Maria Paola Lombardi, Silvia Russo, Luciano Calzari, Sara Guzzetti, Claudia Izzi, Angelo Selicorni, Daniela Melis, Karen Temple, Eamonn Maher, Frédéric Brioude, Irène Netchine, Eggermann Thomas
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. Genetics research 101 (2019)
Isabel Spier, Hartmut Engels, Sonja Stutte, Heiko Reutter, Enrika Bartels, Sarah Matos Meder, Matthias Begemann, Elisabeth Mangold, Eggermann Thomas
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. American journal of medical genetics. Part A 179 (11) (2019)
G Gillessen-Kaesbach, B Albrecht, Eggermann Thomas, Miriam Elbracht, D Mitter, S Morlot, C M A van Ravenswaaij-Arts, S Schulz, G Strobl-Wildemann, K Buiting, Jasmin Beygo
Molecular and clinical studies in 8 patients with Temple syndrome. Clinical genetics 93 (6) (2018)
Eggermann Thomas, Susanne Ledig, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Peter Wieacker
Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients. Molecular genetics & genomic medicine 6 (6) (2018)
R Scheuvens, M Begemann, L Soellner, D Meschede, G Raabe-Meyer, M Elbracht, R Schubert, Eggermann Thomas
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself. Clinical genetics 92 (1) (2017)
Eggermann Thomas, Barbara Oehl-Jaschkowitz, Severin Dicks, Wolfgang Thomas, Deniz Kanber, Beate Albrecht, Matthias Begemann, Ingo Kurth, Jasmin Beygo, Karin Buiting
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism? Molecular genetics & genomic medicine 5 (6) (2017)

Eggermann Thomas.css-eqlu8i{font-size:small;padding-left:4px;} (Thomas Eggermann, T Eggermann)

Publication Activity (10 Years)

Top Topics

Top Venues

Eggermann Thomas (Thomas Eggermann, T Eggermann)