PUBLICATION LIST

• MB Lauritsen, TD Als, HA Dahl, TJ Flint, AG Wang, M Vang, TA Kruse, H Ewald and O Mors. Molecular Psychiatry (2006) "A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands."Link
• Noomi Gregersen 1, Hans A Dahl, Henriette N Buttenschøn, Mette Nyegaard, Anne Hedemand, Thomas D Als, August G Wang, Sofus Joensen, David Pd Woors . Eur J Hum Genet (2012) "A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene." Link
• Allan Bayat 1, Zhenjiang Liu 2, Sheng Luo 3, Christina D Fenger 4, Anne F Højte 5, Bertrand Isidor 6, Benjamin Cogne 6, Austin Larson 7, Caterina Zanus 8, Flavio Faletra 8, Boris Keren 9, Luciana Musante 8, Isabelle Gourfinkel-An 9, Charles Perrine 10, Caroline Demily 11, Gaeton Lesca 12, Weiping Liao 13, Dejian Ren 14. Genet Med (2023) "A new neurodevelopmental disorder linked to heterozygous variants in UNC79." Link
• Michaela Omelková 1, Christina Dühring Fenger 2 3, Marta Murray 1, Trine Bjørg Hammer 2, Veronica M Pravata 1, Sergio Galan Bartual 1 4, Ignacy Czajewski 1, Allan Bayat 2, Andrew T Ferenbach 1 4, Marios P Stavridis 1, Daan M F van Aalten 1 5 4. Dis Model Mech (2023) "An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal." Link
• Analysis of shared heritability in common disorders of the brain. Link
• Noomi O Gregersen 1, Henriette N Buttenschøn, Anne Hedemand, Hans A Dahl, Ann S Kristensen, Birita Clementsen, David P D Woldbye, Pernille Koefoed, Angelika Erhardt, Torben A Kruse, August G Wang, Anders D Børglum, Ole Mors. Psychiatr Genet (2014) "Are TMEM genes potential candidate genes for panic disorder?"Link
• Noomi Gregersen, Henriette Nørmølle Buttenschøn, Anne Hedemand, Marit Nyholm Nielsen, Hans Dahl, Ann Suhl Kristensen, Oddbjørg Johansen, David Woldbye, Angelika Erhardt, Torben A Kruse, August G. Wang, Anders Børglum, Ole Mors. Psychiatric Genetics (2016) "Association between genes on chromosome 19p13.2 and panic disorder."Link
• Elena Gardella 1 2, Felicitas Becker 3, Rikke S Møller 1 2, Julian Schubert 3, Johannes R Lemke 4, Line H G Larsen 5, Hans Eiberg 6, Michael Nothnagel 7, Holger Thiele 7, Janine Altmüller 7, Steffen Syrbe 8, Andreas Merkenschlager 8, Thomas Bast 9, Bernhard Steinhoff 9, Peter Nürnberg 7, Yuan Mang 10, Louise Bakke Møller 1, Pia Gellert 1, Sarah E Heron 11 12, Leanne M Dibbens 11 12, Sarah Weckhuysen 13 14, Hans Atli Dahl 5, Saskia Biskup 3, Niels Tommerup 10, Helle Hjalgrim 1 2, Holger Lerche 3, Sándor Beniczky 1 15, Yvonne G Weber 3. Ann Neurol (2016) "Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation." Link
• Andreas Brunklaus 1 2, Juanjiangmeng Du 3, Felix Steckler 1 2, Ismael I Ghanty 1 2, Katrine M Johannesen 4 5, Christina Dühring Fenger 4 6, Stephanie Schorge 7 8, David Baez-Nieto 9, Hao-Ran Wang 9, Andrew Allen 9, Jen Q Pan 9, Holger Lerche 10, Henrike Heyne 9 11 12, Joseph D Symonds 1 2, Sameer M Zuberi 1 2, Stephan Sanders 13, Beth R Sheidley 14, Dana Craiu 15 16, Heather E Olson 14, Sarah Weckhuysen 17 18 19, Peter DeJonge 17 18 19, Ingo Helbig 20 21 22 23 24, Hilde Van Esch 25, Tiffany Busa 26, Matthieu Milh 27 28, Bertrand Isidor 29, Christel Depienne 30 31, Annapurna Poduri 14 32, Arthur J Campbell 8, Jordane Dimidschstein 9, Rikke S Møller 4 5, Dennis Lal 3 9 11 33 34. Epilepsia (2020) "Biological concepts in human sodium channel epilepsies and their relevance in clinical practice."Link
• Inga Talvik 1 2, Rikke S Møller 3 4, Merilin Vaher 2, Ulvi Vaher 2, Line Hg Larsen 4 5, Hans A Dahl 4 5, Pilvi Ilves 6, Tiina Talvik 1 2. Child Neurol Open (2015) "Clinical phenotype of GNAO1: Case report and Review of literature."Link
• Ángel Aledo-Serrano 1 2 3, Adrián Valls-Carbó 4 5, Christina D Fenger 6 7, Gudrun Groeppel 8, Till Hartlieb 9 10, Irene Pascual 4, Erika Herraez 4 11, Borja Cabal 4 12, Irene García-Morales 4 13, Rafael Toledano 4 13, Marcelo Budke 4 14, Álvaro Beltran-Corbellini 4, Sara Baldassari 15, Roland Coras 16, Katja Kobow 16, David M Herrera 4 17, Antonio Del Barrio 4, Hans Atli Dahl 7, Isabel Del Pino 18, Stéphanie Baulac 15, Ingmar Blumcke 16, Rikke S Møller 19 20, Antonio Gil-Nagel 4 5. Neurotherapeutics (2023) "D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery." Link
• Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannvá K. Abrahamsen, Christina D. Fenger, Camilla G. Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K. Hansen, …Brandon J. Wainwright. Nature Communications (2021) "Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype."Link
• J Gesche 1 2, J Christensen 3, H Hjalgrim 4 5, G Rubboli 4 6, C P Beier 1 2 7. Affiliations. Amplexa Genetics A/S, Odense, Denmark. Eur J Neurol (2020) "Epidemiology and outcome of idiopathic generalized epilepsy in adults"Link
• Alessandro Ferretti 1, Margherita Furlan 2, Kevin E Glinton 3, Christina D Fenger 4, Felix Boschann 5, Louise Amlie-Wolf 6, Shimriet Zeidler 7, Raffaella Moretti 8, Corinna Stoltenburg 9, Daniel C Tarquinio 10, Francesca Furia 11, Pasquale Parisi 12, Guido Rubboli 13, Orrin Devinsky 14, Cyril Mignot 8, Karen W Gripp 6, Rikke S Møller 15, Yaping Yang 16, Pawel Stankiewicz 3, Elena Gardella 17. Pediatr Neurol (2024) "Epilepsy as a Novel Phenotype of BPTF-Related Disorders."Link
• Cathrine E Gjerulfsen 1, Rikke S Møller 2, Christina D Fenger 3, Trine B Hammer 4, Allan Bayat 5. Eur J Med Genet (2021)"Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?"Link
• Elisa Musto # 1 2 3, Vivian W Y Liao # 4, Katrine M Johannesen 1 5, Christina D Fenger 1 6, Damien Lederer 7, Kavitha Kothur 8, Katrina Fisk 9, Bruce Bennetts 9 10, Pascal Vrielynck 11, Delphine Delaby 11, Berten Ceulemans 12, Sarah Weckhuysen 13 14 15, Peter Sparber 16, Arjan Bouman 17, Simone Ardern-Holmes 8 18, Christopher Troedson 18, Domenica I Battaglia 2, Himanshu Goel 19, Timothy Feyma 20, Somayeh Bakhtiari 21 22, Linda Tjoa 23, Martin Boxill 24, Nina Demina 16, Olga Shchagina 16, Elena Dadali 16, Michael Kruer 21 22, Gaetano Cantalupo 25 26 27, Ilaria Contaldo 2, Tilman Polster 28, Bertrand Isidor 29, Stefania M Bova 30, Walid Fazeli 31, Leen Wouters 32, Maria J Miranda 33, Francesca Darra 25 26 27, Elisa Pede 2, Diana Le Duc 34, Rami Abou Jamra 34, Sébastien Küry 35 36, Jacopo Proietti 25 37, Niamh McSweeney 38, Elly Brokamp 39, Peter Ian Andrews 40, Marie Gouray Garcia 41, Mary Chebib 4, Rikke S Møller # 1 42, Philip K Ahring 4, Elena Gardella #. Ann Neurol (2023) "GABRA1-Related Disorders: From Genetic to Functional Pathways." Link
• Philip K Ahring 1, Vivian W Y Liao 1, Elena Gardella 2 3, Katrine M Johannesen 2 3, Ilona Krey 4, Kaja K Selmer 5 6, Barbro F Stadheim 6, Hannah Davis 7, Charlotte Peinhardt 7, Mahmoud Koko 8, Rohini K Coorg 9, Steffen Syrbe 10, Astrid Bertsche 11 12, Teresa Santiago-Sim 13, Tue Diemer 14, Christina D Fenger 2 3, Konrad Platzer 4, Evan E Eichler 15 16, Holger Lerche 8, Johannes R Lemke 4, Mary Chebib 1, Rikke S Møller 2 3. Brain (2022) "Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy." Link
• Rikke S Møller 1, Line H G Larsen 2, Katrine M Johannesen 1, Inga Talvik 3, Tiina Talvik 4, Ulvi Vaher 4, Maria J Miranda 5, Muhammad Farooq 6, Jens E K Nielsen 7, Lene Lavard Svendsen 8, Ditte B Kjelgaard 9, Karen M Linnet 10, Qin Hao 2, Peter Uldall 9, Mimoza Frangu 11, Niels Tommerup 12, Shahid M Baig 13, Uzma Abdullah 6, Alfred P Born 14, Pia Gellert 9, Marina Nikanorova 1, Kern Olofsson 9, Birgit Jepsen 9, Dragan Marjanovic 9, Lana I K Al-Zehhawi 15, Sofia J Peñalva 16, Bente Krag-Olsen 10, Klaus Brusgaard 2, Helle Hjalgrim 1, Guido Rubboli 17, Deb K Pal 18, Hans A Dahl 2. Mol Syndromol (2016)"Gene panel testing in epileptic encephalopathies and familial epilepsies." Link
• August G Wang 1, Hans Atli Dahl, Maria Vang, Thomas Damm Als, Henrik Ewald, Torben A Kruse, Ole Mors. Psychiatr Genet (2006) "Genetics of Panic Disorder on the Faroe Islands: A replication study of chromosome 9 and Panic Disorder." Link
• Katrine M Johannesen 1 2, Yuanyuan Liu 3, Mahmoud Koko 3, Cathrine E Gjerulfsen 1, Lukas Sonnenberg 3 4, Julian Schubert 3, Christina D Fenger 1, Ahmed Eltokhi 3, Maert Rannap 3, Nils A Koch 4, Stephan Lauxmann 3 4, Johanna Krüger 3, Josua Kegele 3, Laura Canafoglia 5, Silvana Franceschetti 5, Thomas Mayer 6, Johannes Rebstock 6, Pia Zacher 6, Susanne Ruf 7, Michael Alber 7, Katalin Sterbova 8, Petra Lassuthová 8, Marketa Vlckova 8, Johannes R Lemke 9, Konrad Platzer 9, Ilona Krey 9, Constanze Heine 9, Dagmar Wieczorek 10, Judith Kroell-Seger 11, Caroline Lund 12, Karl Martin Klein 13, P Y Billie Au 14, Jong M Rho 15, Alice W Ho 15, Silvia Masnada 16, Pierangelo Veggiotti 16 17, Lucio Giordano 18, Patrizia Accorsi 18, Christina E Hoei-Hansen 19 20, Pasquale Striano 21 22, Federico Zara 22, Helene Verhelst 23, Judith S Verhoeven 24, Hilde M H Braakman 25, Bert van der Zwaag 26, Aster V E Harder 26, Eva Brilstra 26, Manuela Pendziwiat 27, Sebastian Lebon 28 29, Maria Vaccarezza 30, Ngoc Minh Le 31, Jakob Christensen 32, Sabine Grønborg 33, Stephen W Scherer 34 35, Jennifer Howe 36, Walid Fazeli 37 38, Katherine B Howell 38 39 40, Richard Leventer 38 39 40, Chloe Stutterd 39 40, Sonja Walsh 41, Marion Gerard 42, Bénédicte Gerard 43, Sara Matricardi 44, Claudia M Bonardi 45, Stefano Sartori 46... Elena Gardella 1 2, Holger Lerche 3, Rikke S Møller 1 2. Brain (2022) "Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications." Link
• Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Link
• Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center. Link
• Incorporating epilepsy genetics into clinical practice: a 360°evaluation. Link
• Intrafamilial variability in SLC6A1-related neurodevelopmental disorders. Link
• IRF2BPL as a novel causative gene for progressive myoclonus epilepsy. Link
• KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Link
• Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies. Link
• Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Link
• Mutations in KCNT1 cause different epileptic phenotypes including cardiac abnormalities. Link
• Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Link
• NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Link
• Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters. Link
• Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution. Link
• Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain. Link
• Parental mosaicism in epilepsies due to alleged de novo variants. Link
• Patterns and prognostic markers for treatment response in generalized epilepsies. Link
• Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Link
• PKD_Not always nomina sunt consequentia rerum. Link
• Possible evidence for a common risk locus for bipolar affective disorder and schizophrenia on chromosome 4p16 in patients from the Faroe Islands. Link
• Protocol to achieve high-resolution single-cell transcriptomics of cardiomyocytes in multiple species. Link
• Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands. Link
• Search for susceptibility loci on selected chromosomes in patients with mental disorders from the Faroe Islands. Link
• The contribution of next generation sequencing to epilepsy genetics. Link
• The role of SLC2A1 in Early Onset and Childhood Absence Epilepsies. Link
• The spectrum of intermediate SCN8A-related epilepsy. Link
• X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease. Link