20062020
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Research Output 2006 2020

2020

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

Fagerberg, C. R., Taylor, A., Distelmaier, F., Schrøder, H. D., Kibæk, M., Wieczorek, D., Tarnopolsky, M., Brady, L., Larsen, M. J., Jamra, R. A., Seibt, A., Hejbøl, E. K., Gade, E., Markovic, L., Klee, D., Nagy, P., Rouse, N., Agarwal, P., Dolinsky, V. W. & Bakovic, M., Jan 2020, In : Brain : a journal of neurology. 143, 1, p. 94-111

Research output: Contribution to journalJournal articleResearchpeer-review

Choline
Choline Deficiency
Homeostasis
Fibroblasts
Optic Atrophy
2019

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Haijes, H. A., Koster, M. J. E., Rehmann, H., Li, D., Hakonarson, H., Cappuccio, G., Hancarova, M., Lehalle, D., Reardon, W., Schaefer, G. B., Lehman, A., van de Laar, I. M. B. H., Tesselaar, C. D., Turner, C., Goldenberg, A., Patrier, S., Thevenon, J., Pinelli, M., Brunetti-Pierri, N., Prchalová, D. & 24 others, Havlovicová, M., Vlckova, M., Sedláček, Z., Lopez, E., Ragoussis, V., Pagnamenta, A. T., Kini, U., Vos, H. R., van Es, R. M., van Schaik, R. F. M. A., van Essen, T. A. J., Kibaek, M., Taylor, J. C., Sullivan, J., Shashi, V., Petrovski, S., Fagerberg, C., Martin, D. M., van Gassen, K. L. I., Pfundt, R., Falk, M. J., McCormick, E. M., Timmers, H. T. M. & van Hasselt, P. M., 1. Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 283-301

Research output: Contribution to journalJournal articleResearchpeer-review

Muscle Hypotonia
RNA Polymerase II
HeLa Cells
Saccharomyces cerevisiae
Cell Survival
57 Downloads (Pure)

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., Illum, N., Dunkhase-Heinl, U., Wiesener, A., Popp, B., Marangi, G., Hjortshøj, T. D., Ek, J., Vogel, I., Becher, N., Roos, L., Zollino, M. & Fagerberg, C. R., Feb 2019, In : European Journal of Medical Genetics. 62, 2, p. 129-136

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Macrostomia
Macroglossia
Language Development Disorders
Foramen Ovale
Exome
2018

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Steenhof, M., Kibæk, M., Larsen, M. J., Christensen, M., Lund, A. M., Brusgaard, K. & Hertz, J. M., Aug 2018, In : Neurogenetics. 19, 3, p. 145–149

Research output: Contribution to journalJournal articleResearchpeer-review

Hereditary Spastic Paraplegia
Amino Acids
Mutation
Ligases
Citrulline
89 Downloads (Pure)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deciphering Developmental Disorders Study, 1. Nov 2018, In : American Journal of Human Genetics. 103, 5, p. 666-678

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Contracture
S 6
R-Type Calcium Channels
Hyperkinesis
Muscle Hypotonia
2017

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli, R. M., Schaffer, A. E., Eggens, V. R. C., Zaki, M. S., Grainger, S., Sathe, S., Van Nostrand, E. L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J. L., Heckman, L. D., Rosti, R. O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A. & 39 others, Shaw, T. L., Markmiller, S., Marin-Valencia, I., Davies, J. H., De Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M. L., Warwick, L., Chitayat, D., Blaser, S., Ça Layan, A. O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H. B. T., Kibæk, M., Aldinger, K. A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W. B., Chi, N. C., Traver, D., Spaccini, L., Bova, S. M., Gabriel, S. B., Gunel, M., Valente, E. M., Nassogne, M. C., Bennett, E. J., Yeo, G. W., Baas, F., Lykke-Andersen, J. & Gleeson, J. G., Mar 2017, In : Nature Genetics. 49, 3, p. 457-464

Research output: Contribution to journalLetterResearchpeer-review

spleen exonuclease
Mutation
Eosinophil Cationic Protein
Disorders of Sex Development
Zebrafish
2016

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, I., Fagerberg, C., Kibæk, M., Svaneby, D., Petersen, O. B., Brasch-Andersen, C. & Sunde, L., 2016, In : American Journal of Medical Genetics. Part A. 170, 11, p. 2934-2942

Research output: Contribution to journalJournal articleResearchpeer-review

Denmark
Counseling
Kidney
Joint Instability
Esophageal Atresia

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Ng, B. G., Shiryaev, S. A., Rymen, D., Eklund, E. A., Raymond, K., Kircher, M., Abdenur, J. E., Alehan, F., Midro, A. T., Bamshad, M. J., Barone, R., Berry, G. T., Brumbaugh, J. E., Buckingham, K. J., Clarkson, K., Cole, F. S., O'Connor, S., Cooper, G. M., Van Coster, R., Demmer, L. A. & 31 others, Diogo, L., Fay, A. J., Ficicioglu, C., Fiumara, A., Gahl, W. A., Ganetzky, R., Goel, H., Harshman, L. A., He, M., Jaeken, J., James, P. M., Katz, D., Keldermans, L., Kibæk, M., Kornberg, A. J., Lachlan, K., Lam, C., Yaplito-Lee, J., Nickerson, D. A., Peters, H. L., Race, V., Régal, L., Rush, J. S., Rutledge, S. L., Shendure, J., Souche, E., Sparks, S. E., Trapane, P., Sanchez-Valle, A., Vilain, E. & University of Washington Center for Mendelian Genomics, Jul 2016, In : Human Mutation. 37, 7, p. 653-60 8 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Congenital Disorders of Glycosylation
Mutation
Glycosylation
Mannosyltransferases
Mannose

Neuralgisk amyotrofi er en overset diagnose ved akutte skuldersmerter

Translated title of the contribution: Neuralgic amyotrophy is an overlooked diagnosis by sudden onset of shoulder painJürgensen, L., Fagerberg, C., Kibæk, M. & Brasch-Andersen, C., 2016, In : Ugeskrift for Laeger. 178, 21, p. 2-3 V04160292.

Research output: Contribution to journalJournal articleResearchpeer-review

Brachial Plexus Neuritis
Shoulder Pain
Pathology
Muscles
Shoulder Joint

Neuralgisk amytrofi er en overset diagnose ved akutte skuldersmerter

Jürgensen, L., Fagerberg, C., Kibæk, M. & Brasch-Andersen, C., 2016, In : Ugeskrift for Laeger. 178, 21, p. 2019-2020

Research output: Contribution to journalComment/debateResearchpeer-review

2015

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes

Gil-Rodríguez, M. C., Deardorff, M. A., Ansari, M., Tan, C. A., Parenti, I., Baquero-Montoya, C., Ousager, L. B., Puisac, B., Hernández-Marcos, M., Teresa-Rodrigo, M. E., Marcos-Alcalde, I., Wesselink, J-J., Lusa-Bernal, S., Bijlsma, E. K., Braunholz, D., Bueno-Martinez, I., Clark, D., Cooper, N. S., Curry, C. J., Fisher, R. & 42 others, Fryer, A., Ganesh, J., Gervasini, C., Gillessen-Kaesbach, G., Guo, Y., Hakonarson, H., Hopkin, R. J., Kaur, M., Keating, B. J., Kibæk, M., Kinning, E., Kleefstra, T., Kline, A. D., Kuchinskaya, E., Larizza, L., Li, Y. R., Liu, X., Mariani, M., Picker, J. D., Pié, Á., Pozojevic, J., Queralt, E., Richer, J., Roeder, E., Sinha, A., Scott, R. H., So, J., Wusik, K. A., Wilson, L., Zhang, J., Gómez-Puertas, P., Casale, C. H., Ström, L., Selicorni, A., Ramos, F. J., Jackson, L. G., Krantz, I. D., Das, S., Hennekam, R. C. M., Kaiser, F. J., FitzPatrick, D. R. & Pié, J., Apr 2015, In : Human Mutation. 36, 4, p. 454-62 9 p.

Research output: Contribution to journalJournal articleResearchpeer-review

De Lange Syndrome
Mutation
Microcephaly
Growth

Recurrent duplications of 17q12 associated with variable phenotypes

Mitchell, E., Douglas, A., Kjaegaard, S., Callewaert, B., Vanlander, A., Janssens, S., Yuen, A. L., Skinner, C., Failla, P., Alberti, A., Avola, E., Fichera, M., Kibæk, M., Digilio, M. C., Hannibal, M. C., den Hollander, N. S., Bizzarri, V., Renieri, A., Mencarelli, M. A., Fitzgerald, T. & 12 others, Piazzolla, S., van Oudenhove, E., Romano, C., Schwartz, C., Eichler, E. E., Slavotinek, A., Escobar, L., Rajan, D., Crolla, J., Carter, N., Hodge, J. C. & Mefford, H. C., Dec 2015, In : American Journal of Medical Genetics. Part A. 167A, 12, p. 3038-45 8 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Tracheomalacia
Funnel Chest
Coloboma
Microphthalmos
Microcephaly

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibæk, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., Striano, P., Zara, F., Kleiss, R., Simpson, M., Muhle, H., Nikanorova, M., Jepsen, B., Tommerup, N. & 8 others, Stephani, U., Guerrini, R., Duno, M., Hjalgrim, H., Pal, D., Helbig, I., Møller, R. S. & MAE working group of the EuroEPINOMICS RES Consortium, Dec 2015, In : Epilepsia. 56, 12, p. e203-8

Research output: Contribution to journalLetterResearchpeer-review

Absence Epilepsy
Mutation
Movement Disorders
Mutation Rate
Population
2014

A Newly Recognized 13q12.3 Microdeletion Syndrome Characterized by Intellectual Disability, Microcephaly, and Eczema/Atopic Dermatitis Encompassing the HMGB1 and KATNAL1 Genes

Bartholdi, D., Stray-Pedersen, A., Azzarello-Burri, S., Kibæk, M., Kirchhoff, M., Oneda, B., Rodningen, O., Schmitt-Mechelke, T., Rauch, A. & Kjaergaard, S., 2014, In : American Journal of Medical Genetics. Part A. 164, 5, p. 1277-1283 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

2013

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

Dauber, A., Golzio, C., Guenot, C., Jodelka, F. M., Kibæk, M., Kjaergaard, S., Leheup, B., Martinet, D., Nowaczyk, M. J. M., Rosenfeld, J. A., Zeesman, S., Zunich, J., Beckmann, J. S., Hirschhorn, J. N., Hastings, M. L., Jacquemont, S. & Katsanis, N., 2013, In : American Journal of Human Genetics. 93, 5, p. 798-811

Research output: Contribution to journalJournal articleResearchpeer-review

Microcephaly
Coloboma
Cell Polarity
Medical Genetics
Protein Isoforms
2012

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth

Jelsig, A. M., Brasch Andersen, C., Kibæk, M. & Fagerberg, C. R., 2012, In : European Journal of Medical Genetics. 55, 10, p. 564-7 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Hypertrichosis
Microcephaly
Chromosome Deletion

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

Kristensen, L. K., Kjaergaard, S., Kirchhoff, M., Kock, K., Brasch Andersen, C., Kibæk, M. & Ousager, L. B., 2012, In : European Journal of Medical Genetics. 55, 10, p. 557-60 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Hedgehogs
Prenatal Ultrasonography
Aborted Fetus
Polyhydramnios
Parents
2011

Effect of a clown's presence at botulinum toxin injections in children: a randomized, prospective study

Hansen, L. K., Kibæk, M., Martinussen, T., Kragh, L. & Hejl, M., 2011, In : Journal of Pain Research. 4, p. 297-300 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Prospective Studies
Pediatrics
Outpatients
2009

Psykomotorisk retardering på baggrund af malign infantil osteopetrose

Translated title of the contribution: Delayed psychomotor development caused by malignant infantile osteopetrosisHeidemann, M. S., Schou, A. J., Kibæk, M. & Jacobsen, B. B., 9. Feb 2009, In : Ugeskrift for læger. 171, 7, p. 534

Research output: Contribution to journalJournal articleResearchpeer-review

2006

Regression of cataract in a four-year-old girl with Alpha mannosidosis after bone marrow transplantation

Gade, E. F., Rokkjær, M. & Kibæk, M., 2006.

Research output: Contribution to conference without publisher/journalPosterResearch

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

Madsen, P. P., Kibæk, M., Roca, X., Sachidanandam, R., Krainer, A. R., Christensen, E., Steiner, R. D., Gibson, K. M., Corydon, T. J., Knudsen, I., Wanders, R. J. A., Ruiter, J. P. N., Gregersen, N. & Andresen, B. S., Feb 2006, In : Human Genetics. 118, 6, p. 680-90 11 p.

Research output: Contribution to journalJournal articleResearchpeer-review

RNA Splice Sites
Mutation
Newborn Infant
Isoleucine
2-Methylbutyryl-CoA Dehydrogenase Deficiency