Identifying Transcription Factors Distinguishing Regenerating Cardiomyocytes in the Zebrafish Heart Using Single-Cell Transcriptomics.
Terp AKS, Ellman DG, Mathiesen SB, Laursen SM, Bjerre FA, Ammentorp BG, Willadsen FG, Poon ENY, Jensen CH, Andersen DC. BioRxiv. 2026
Identifying Transcription Factors Distinguishing Regenerating Cardiomyocytes in the Zebrafish Heart Using Single-Cell Transcriptomics.
Mathiesen SB, Bjerre FA, Terp AKS, Ellman DG, Larsen JH, Horn PB, Svenningsen P, Poon ENY, Jensen CH, Andersen DC. bioRxiv. 2026
Identifying Transcription Factors Distinguishing Regenerating Cardiomyocytes in the Zebrafish Heart Using Single-Cell Transcriptomics.
Ellman DG, Oliveira ACS, Andersen KS, Harvald EB, Hofmeister W, Bak ST, Mathiesen SB, Slaiman IM, Belling HJ, Smajic A, Fenger CD, Burton M, Thomassen M, Jensen CH, Ober EA, Andersen DC. Cells. 2026 Aug 13;15(16):1455. PMID: 42645184
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.
Vanden Eynde N, Hérissant L, Landais E, Egloff M, Rio M, Baujat G, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Vieville G, Kuentz P, Nizon M, Beneteau C, Isidor B, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Cartault F, Scheidecker S, Gouronc A, Schalk A, Angélini C, Pennamen P, Rooryck C, Trajkova S, Gagachovska B, Shrom-Model B, Braddock SR, Hillman P, Liu L, Fenger CD, Hammer TB, Schanze I, Zenker M, Doco-Fenzy M, Poirsier C, Jouret G. Clin Genet. 2026 Oct;110(4):449-459. PMID: 42498698
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K, Bergot T, Scott-Boyer MP, Chapalain S, Desdouets C, Commet S, Zhu C, Xu Y, Wang Y, Roscioli T, Tran-Mau-Them F, Faivre L, Maraval J, Delanne J, Denommé-Pichon AS, Vitobello A, Jost C, Planes M, Hiatt S, Wheeler P, Gonzaga-Jauregui C, Wang H, Xin B, Sency V, Kruer MC, Bakhtiari S, Sulem P, Curry C, Prescott T, Strobl-Wildemann G, Brunet T, Doco Fenzy M, Courtin T, Poirsier C, Bjørg Hammer T, Fenger CD, MacPherson M, Izumi K, Leonard J, Li D, Zackai EH, Glass IA, Ward S, Campeau PM, Borroto MCH, Le Moigno L, Van Esch H, De Waele L, Calame DG, Lupski JR, Barcia G, Peduto C, Planté-Bordeneuve P, Dupuis L, Mendoza-Londono R, Stavropoulos DJ, Gillibert-Duplantier J, Besnard T, Do Souto Ferreira L, Cogné B, Bézieau S, Droit A, Corcos L, Lippert E, Férec C, Küry S, Bernard DG. Nat Commun. 2026 Jan 23;17(1):1569. PMID: 41577671
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.
Bonardi CM, Møller RS, Ruiz-Reig N, Chai G, Madsen CG, Bayat A, Hammer TB, Fenger CD, Gardella E, Gawlinski P, Dawidziuk M, Wiszniewski W, Bekiesinska-Figatowska M, Cabet S, Rossi M, Lesca G, Gouy E, Jepsen B, Mieszczanek TS, Sanchez Russo R, Barr EE, Õunap K, Ilves P, Wojcik MH, Aittaleb M, Brusgaard K, Tissir F, Rubboli G. Nat Commun. 2026 Jan 13;17(1):862. PMID: 41530147
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency. Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Zeidler S, Stoltenburg C, Barakat TS, Martinez-Agosto JA, Devinsky O, Furia F, Rubboli G, Di Napoli A, Bellone G, Furio S, Piccirillo M, Mennini M, Di Nardo G, Parisi P, Møller RS, Yang Y, Stankiewicz P, Gardella E. Pediatr Neurol. 2025 Sep;170:58-65. PMID: 40614698
Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimplantation Genetic Testing (niPGT) Compared to Invasive Embryo Biopsy.
Voros C, Darlas M, Athanasiou D, Athanasiou A, Athanasiou A, Bananis K, Papadimas G, Tsimpoukelis C, Gkirgkinoudis A, Sapantzoglou I, Papapanagiotou I, Vaitsis D, Koulakmanidis AM, Topalis V, Thomakos N, Theodora M, Antsaklis P, Chatzinikolaou F, Dahl HA, Daskalakis G, Loutradis D. Biomedicines. 2025 Aug 18;13(8):2010. PMID: 40868262
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK. Neurology. 2025 Jul 22;105(2):e213644. PMID: 40570274
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node. Mantoan Ritter L, Annear NMP, Baple EL, Ben-Chaabane LY, Bodi I, Brosson L, Cadwgan JE, Coslett B, Crosby AH, Davies DM, Daykin N, Dedeurwaerdere S, Dühring Fenger C, Dunlop EA, Elmslie FV, Girodengo M, Hambleton S, Jansen AC, Johnson SR, Kearley KC, Kingswood JC, Laaniste L, Lachlan K, Latchford A, Madsen RR, Mansour S, Mihaylov SR, Muhammed L, Oliver C, Pepper T, Rawlins LE, Schim van der Loeff I, Siddiqui A, Takhar P, Tatton-Brown K, Tee AR, Tibarewal P, Tye C, Ultanir SK, Vanhaesebroeck B, Zare B, Pal DK, Bateman JM. Orphanet J Rare Dis. 2025 May 27;20(1):256. PMID: 40426219
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction. Kovermann P, Bayat A, Fenger CD, Leeuwen L, Borovikov A, Sharkov A, Levrat V, Lesca G, Perrin L, Levy J, Fahlke C, Møller RS, Jensen AA. EBioMedicine. 2025 Apr;114:105648. PMID: 40174554
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
De la Rosa SO, Rizzo V, Jauss RT, Bartolomaeus T, Escolar M, Bernard G, Gavrilova R, Ahrens-Nicklas R, Lemire G, Boycott KM, Mercimek-Andrews S, Prontera P, Costa C, Rakic B, Boerkoel CF, Huynh S, Huh L, Sherr E, Argilli E, Ortigoza-Escobar JD, Casas-Alba D, Nunes T, Koolen DA, Platzer K, Khinchi MS, Gardella E, Fenger CD, Møller RS, Bayat A. Epilepsia. 2025 Jul;66(7):2379-2390. PMID: 40116760
The natural history of CDKL5 deficiency disorder into adulthood.
Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, Fenger CD, Laze J, Rossi A, Trivisano M, Gonzalez-Giraldez B, Lama J, Krey I, Platzer K, Brischoux-Boucher E, Sarret C, Lomax LB, Zanus C, Musante L, Costa P, Moloney P, Delanty N, Russo A, Schönewolf-Greulich B, Bisgaard AM, Berger C, Freri E, Takahashi S, Zacher P, Jung J, Demarest S, Marsh E, Percy A, Neul J, Olson H, Swanson L, Meletti S, Cioclu MC, Ali QZ, Suller A, Beltran-Corbellini A, Gil-Nagel A, Zhang X, Previtali R, Højte AF, Specchio N, Downs J, Lesca G, Rubboli G, Andrade D, Gardella E, Pestana E, Devinsky O, Benke T, Helbig I, Thomas R, Møller RS. medRxiv [Preprint]. 2025 Jan 13:2025.01.12.24318239. PMID: 39867409
The natural history of CDKL5 deficiency disorder into adulthood.
Ellman DG, Bjerre FA, Bak ST, Mathiesen SB, Harvald EB, Jensen CH, Andersen DC. STAR Protoc. 2024 Sep 20;5(3):103194. PMID: 39096494
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E. Pediatr Neurol. 2024 Sep;158:17-25. PMID: 38936258
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease. Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB. Mol Genet Metab. 2023 Nov;140(3):107694. PMID: 37708665
GABRA1-Related Disorders: From Genetic to Functional Pathways. Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Ann Neurol. 2023 Aug 22. PMID: 37606373
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Kassabian B, Fenger CD, Willems M, Aledo-Serrano A, Linnankivi T, McDonnell PP, Lusk L, Jepsen BS, Bayat M, Kattentidt A, Vidal AA, Valero-Lopez G, Alarcon-Martinez H, Goodspeed K, van Slegtenhorst M, Barakat TS, Møller RS, Johannesen KM, Rubboli G. Front Neurosci. 2023 Jul 12;17:1219262. PMID: 37502687
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal. Omelková M, Fenger CD, Murray M, Hammer TB, Pravata VM, Bartual SG, Czajewski I, Bayat A, Ferenbach AT, Stavridis MP, van Aalten DMF. Dis Model Mech. 2023 Jun 1;16(6):dmm049132. PMID: 37334838
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.
Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A. Neurotherapeutics. 2023 Sep;20(5):1294-1304. PMID: 37278968
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Genet Med. 2023 Sep;25(9):100894. PMID: 37183800
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Epilepsia. 2023 Aug;64(8):e170-e176. PMID: 37114479
Complete Genome Sequence of the Lysogenic Pseudomonas Bacteriophage Fyn8. Østergaard MZ, Damgaard AS, Rosenbæk E, Krogh TJ, Kirkpatrick CL. Microbiol Resour Announc. 2023 Mar 16;12(3):e0000423. PMID: 36779715
Ploidy-stratified single cardiomyocyte transcriptomics map Zinc Finger E-Box Binding Homeobox 1 to underly cardiomyocyte proliferation before birth.
Bak ST, Harvald EB, Ellman DG, Mathiesen SB, Chen T, Fang S, Andersen KS, Fenger CD, Burton M, Thomassen M, Andersen DC. Basic Res Cardiol. 2023 Mar 2;118(1):8. PMID: 36862248
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Neurology. 2023 Feb 7;100(6):e603-e615. PMID: 36307226
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A.Eur J Med Genet. 2022 Nov;65(11):104624. PMID: 36130690
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu…See abstract for full author list ➔Brain. 2022 Sep 14;145(9):2991-3009. PMID: 34431999
Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center. Bayat A, Fenger CD, Techlo TR, Højte AF, Nørgaard I, Hansen TF, Rubboli G, Møller RS, Group DCCRS. Neurotherapeutics. 2022 Jul;19(4):1353-1367. PMID: 35723786
Atlantic herring (Clupea harengus) population structure in the Northeast Atlantic Ocean.
Kongsstovu SÍ, Mikalsen SO, Homrum EÍ, Jacobsen JA, Als TD, Gislason H, Flicek P, Nielsen EE, Dahl HA. Fish Res. 2022 May;249:106231. PMID: 36798657
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS. Brain. 2022 May 24;145(4):1299-1309. PMID: 34633442
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution. Frasca A, Pavlidou E, Bizzotto M, Gao Y, Balestra D, Pinotti M, Dahl HA, Mazarakis ND, Landsberger N, Kinali M. Neurol Genet. 2022 Mar 9;8(2):e666. PMID: 35280940
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Genet Med. 2021 Feb;23(2):363-373. PMID: 33144681
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Brain. 2021 Dec 31;144(12):3635-3650. PMID: 34114611
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised? Gjerulfsen CE, Møller RS, Fenger CD, Hammer TB, Bayat A. Eur J Med Genet. 2021 Jul;64(7):104246. PMID: 34020006 Review.
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Kojic M, Gawda T, Gaik M, Begg A, Salerno-Kochan A, Kurniawan ND, Jones A, Drożdżyk K, Kościelniak A, Chramiec-Głąbik A, Hediyeh-Zadeh S, Kasherman M, Shim WJ, Sinniah E, Genovesi LA, Abrahamsen RK, Fenger CD, Madsen CG, Cohen JS, Fatemi A, Stark Z, Lunke S, Lee J, Hansen JK, Boxill MF, Keren B, Marey I, Saenz MS, Brown K, Alexander SA, Mureev S, Batzilla A, Davis MJ, Piper M, Bodén M, Burne THJ, Palpant NJ, Møller RS, Glatt S, Wainwright BJ. Nat Commun. 2021 May 11;12(1):2678. PMID: 33976153
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
Willimsky EK, Munzig A, Mayer K, Biskup S, Abicht A, Hoertnagel K, Voss HV, Klein HG, Rost I, Larsen LHG, Dahl HA, Hoelz H, Stuelpnagel CV, Borggraefe I. Neuropediatrics. 2021 Apr;52(2):92-97. PMID: 33086385
Patterns and prognostic markers for treatment response in generalized epilepsies.
Gesche J, Hjalgrim H, Rubboli G, Beier CP.Neurology. 2020 Nov 3;95(18):e2519-e2528. PMID: 32817177
The clinical spectrum of familial and sporadic idiopathic generalized epilepsy.
Gesche J, Hjalgrim H, Rubboli G, Beier CP. Epilepsy Res. 2020 Sep;165:106374. PMID: 32554302
Identification of male heterogametic sex-determining regions on the Atlantic herring Clupea harengus genome.
Í Kongsstovu S, Dahl HA, Gislason H, Homrum E, Jacobsen JA, Flicek P, Mikalsen SO. J Fish Biol. 2020 Jul;97(1):190-201. PMID: 32293027
Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Johannesen KM, Nikanorova N, Marjanovic D, Pavbro A, Larsen LHG, Rubboli G, Møller RS. Epilepsia. 2020 Jun;61(6):1234-1239. PMID: 32427350
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O’Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Brain. 2020 Apr 1;143(4):1114-1126. PMID: 32293671
Epidemiology and outcome of idiopathic generalized epilepsy in adults.
Gesche J, Christensen J, Hjalgrim H, Rubboli G, Beier CP. Eur J Neurol. 2020 Apr;27(4):676-684. PMID: 31838768
Phylogeny of teleost connexins reveals highly inconsistent intra- and interspecies use of nomenclature and misassemblies in recent teleost chromosome assemblies.
Mikalsen SO, Tausen M, Í Kongsstovu S. BMC Genomics. 2020 Mar 11;21(1):223. PMID: 32160866
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D. Epilepsia. 2020 Mar;61(3):387-399. PMID: 32090326
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.
Kdissa A, Brusgaard K, Ksiaa M, Golli L, Hallara O, Ousager LB, Manoubi W, Seghaier RB, Adala L, Halleb Y, Saad A, Hmila F, Gribaa M. Cancer Genet. 2020 Jan;240:45-53. PMID: 31739127
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center. Hoelz H, Herdl C, Gerstl L, Tacke M, Vill K, von Stuelpnagel C, Rost I, Hoertnagel K, Abicht A, Hollizeck S, Larsen LHG, Borggraefe I. Clin EEG Neurosci. 2020 Jan;51(1):61-69. PMID: 31554424
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. Neurol Genet. 2019 Dec 10;5(6):e373. PMID: 32042906
Using long and linked reads to improve an Atlantic herring (Clupea harengus) genome assembly.
Í Kongsstovu S, Mikalsen SO, Homrum EÍ, Jacobsen JA, Flicek P, Dahl HA. Sci Rep. 2019 Nov 27;9(1):17716. PMID: 31776409
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y. Brain. 2019 Oct 1;142(10):3009-3027. PMID: 31504254
Bayat A, Knaus A, Juul AW, Dukic D, Gardella E, Charzewska A, Clement E, Hjalgrim H, Hoffman-Zacharska D, Horn D, Horton R, Hurst JA, Josifova D, Larsen LHG, Lascelles K, Obersztyn E, Pagnamenta A, Pal DK, Pendziwiat M, Ryten M, Taylor J, Vogt J, Weber Y, Krawitz PM, Helbig I, Kini U, Møller RS; DDD Study Group. Genet Med. 2019 Oct;21(10):2216-2223. PMID: 30976099
SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders. Vlachou V, Larsen L, Pavlidou E, Ismayilova N, Mazarakis ND, Scala M, Pantazi M, Mankad K, Kinali M. J Genet. 2019 Jun;98(2):54. PMID: 3120472
Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies.
Tiefes AM, Hartlieb T, Tacke M, von Stülpnagel-Steinbeis C, Larsen LHG, Hao Q, Dahl HA, Neubauer BA, Gerstl L, Kudernatsch M, Kluger GJ, Borggraefe I. Clin EEG Neurosci. 2019 Jul;50(4):267-272. PMID: 30117335
Parental mosaicism in epilepsies due to alleged de novo variants.
Møller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR. Epilepsia. 2019 Jun;60(6):e63-e66. PMID: 31077350
Analysis of shared heritability in common disorders of the brain. Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinge…See abstract for full author list ➔ Science. 2018 Jun 22;360(6395):eaap8757. PMID: 29930110
The spectrum of intermediate SCN8A-related epilepsy. Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Epilepsia. 2019 May;60(5):830-844. PMID: 30968951
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S, Tang S, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Møller RS, Pal DK. NPJ Genom Med. 2018 May 10;3:13. PMID: 29760947
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Neurology. 2017 Jan 31;88(5):483-492. PMID: 28053010
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S. Neurol Genet. 2016 Oct 31;2(6):e118. PMID: 27830187
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. Neurology. 2016 Sep 13;87(11):1140-51. PMID: 27521439
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA.Mol Syndromol. 2016 Sep;7(4):210-219. PMID: 27781031
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. Ann Neurol. 2016 Mar;79(3):428-36. PMID: 26677014
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Epilepsia. 2015 Sep;56(9):e114-20. PMID: 26122718
The contribution of next generation sequencing to epilepsy genetics. Møller RS, Dahl HA, Helbig I. Expert Rev Mol Diagn. 2015;15(12):1531-8. PMID: 26565596 Review.
Are TMEM genes potential candidate genes for panic disorder? Gregersen NO, Buttenschøn HN, Hedemand A, Dahl HA, Kristensen AS, Clementsen B, Woldbye DP, Koefoed P, Erhardt A, Kruse TA, Wang AG, Børglum AD, Mors O. Psychiatr Genet. 2014 Feb;24(1):37-41. PMID: 24362369
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.Talvik I, Møller RS, Vaher M, Vaher U, Larsen LH, Dahl HA, Ilves P, Talvik T. Child Neurol Open. 2015 May 5;2(2):2329048X15583717. PMID: 28503590
The role of SLC2A1 in early onset and childhood absence epilepsies.
Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL, Dahl HA, Brusgaard K, Neubauer B, De Jonghe P, Tommerup N, Stephani U, Hjalgrim H, Møller RS. Epilepsy Res. 2013 Jul;105(1-2):229-33. PMID: 23306390
A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene. Gregersen N, Dahl HA, Buttenschøn HN, Nyegaard M, Hedemand A, Als TD, Wang AG, Joensen S, Woldbye DP, Koefoed P, Kristensen AS, Kruse TA, Børglum AD, Mors O. Eur J Hum Genet. 2012 Jan;20(1):84-90. PMID: 21811305
Genetics of panic disorder on the Faroe Islands: a replication study of chromosome 9 and panic disorder.Wang AG, Dahl HA, Vang M, Als TD, Ewald H, Kruse TA, Mors O. Psychiatr Genet. 2006 Jun;16(3):99-104. PMID: 16691127
A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands.
MB Lauritsen, TD Als, HA Dahl, TJ Flint, AG Wang, M Vang, TA Kruse, H Ewald and O Mors. Molecular Psychiatry (2006)
