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Clincial Genetics, Department of - a part of Copenhagen University Hospital
  1. 2021
  2. Published

    Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

    GenoMEL Study Group, 23 Apr 2021, In: BMC PUBLIC HEALTH. 21, 1, p. 692

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. E-pub ahead of print

    Health screening among children newly granted asylum in Denmark

    Frederiksen, N. W., Christoffersen, N. M., Haugaard, A. K., Ahmadi, A., Poulsen, A., Norredam, M. & Kruse, A., 18 Apr 2021, (E-pub ahead of print) In: Acta paediatrica.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. E-pub ahead of print

    Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

    McKenzie, F., Mina, K., Callewaert, B., Beyens, A., Dickinson, J. E., Jevon, G., Papadimitriou, J., Diness, B. R., Steensberg, J. N., Ek, J. & Baynam, G., 18 Apr 2021, (E-pub ahead of print) In: Clinical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. E-pub ahead of print

    Oliver McFarlane syndrome: two new cases and a review of the literature

    Lisbjerg, K., Andersen, M. K. G., Bertelsen, M., Brost, A. G., Buchvald, F. F., Jensen, R. B., Bisgaard, A-M., Rosenberg, T., Tümer, Z. & Kessel, L., 5 Apr 2021, (E-pub ahead of print) In: Ophthalmic Genetics. p. 1-10 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Genetisk screening af adopterede raske individer

    Wriedt, T. R., Gerdes, A-M. A., Roos, L. K., Hammer-Hansen, S., Christensen, M. B. & Diness, B. R., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Genetisk screening af kommende forældre

    Smed, V. M., Petersen, O. B. B., Gerdes, A-M. A., Diness, B. R. & Roos, L. S., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

    ERN-EYE study group, 20 Mar 2021, In: Orphanet Journal of Rare Diseases. 16, 1, p. 142

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. E-pub ahead of print

    Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

    Seppälä, T. T., Dominguez-Valentin, M., Crosbie, E. J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Hovig, E., Nielsen, M., Sijmons, R. H., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Mints, M., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauß, H-G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J-P., Plazzer, J-P., Pineda, M., Navarro, M., Vida, J. B., Kariv, R., Rosner, G., Piñero, T. A., Pavicic, W., Kalfayan, P., Ten Broeke, S. W., Jenkins, M. A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., de Vos Tot Nederveen Cappel, W. H., Della Valle, A., Lopez-Koestner, F., Alvarez, K., Büttner, R., Görgens, H., Morak, M., Holzapfel, S., Hüneburg, R., von Knebel Doeberitz, M., Loeffler, M., Redler, S., Weitz, J., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Hopper, J. L., Win, A. K., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Wadt, K. A. W., Mourits, M. J. E., Ketabi, Z., Denton, O. G., Rødland, E. A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Rokkones, E., Sampson, J. R., Evans, D. G. & Møller, P., 17 Mar 2021, (E-pub ahead of print) In: European journal of cancer (Oxford, England : 1990). 148, p. 124-133 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. E-pub ahead of print

    Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

    Hoei-Hansen, C. E., Tygesen, M. L. B., Dunø, M., Vissing, J., Ballegaard, M. & Born, A. P., 11 Mar 2021, (E-pub ahead of print) In: Neuropediatrics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. E-pub ahead of print

    Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes

    Gerdes, A-M., Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, B. R., 1 Mar 2021, (E-pub ahead of print) In: European journal of human genetics : EJHG.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review

    Thomsen, S. H., Lund, I. C. B., Fagerberg, C., Bache, I., Becher, N. & Vogel, I., Mar 2021, In: Prenatal Diagnosis. 41, 4, p. 409-421 13 p.

    Research output: Contribution to journalReviewpeer-review

  13. E-pub ahead of print

    Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

    Kessel, L., Kjer, B., Lei, U., Duno, M. & Grønskov, K., 22 Feb 2021, (E-pub ahead of print) In: Ophthalmic Genetics. p. 1-9 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. E-pub ahead of print

    DLG4-related synaptopathy: a new rare brain disorder

    Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., Marcos-Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A-M., Bjerregaard, V. A., Bruel, A-L., Challman, T. D., Cogné, B., Coubes, C., de Man, S. A., Denommé-Pichon, A-S., Dye, T. J., Elmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., MacKenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Müller, A. J., O'Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gómez-Puertas, P., Pujol, A. & Tümer, Z., 17 Feb 2021, (E-pub ahead of print) In: Genetics in medicine : official journal of the American College of Medical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Deciphering the premature mortality in PIGA-CDG - An untold story

    Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, L., Tümer, Z., Rubboli, G. & Møller, R. S., 1 Feb 2021, In: Epilepsy Research. 170, p. 106530

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. E-pub ahead of print
  17. Published

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., Afawi, Z., Almanza Fuerte, E. P., Andrade, D. M., Balcik, Y., Ben Zeev, B., Bennett, M. F., Berkovic, S. F., Isidor, B., Bouman, A., Brilstra, E., Busk, Ø. L., Cairns, A., Caumes, R., Chatron, N., Dale, R. C., de Geus, C., Edery, P., Gill, D., Granild-Jensen, J. B., Gunderson, L., Gunning, B., Heimer, G., Helle, J. R., Hildebrand, M. S., Hollingsworth, G., Kharytonov, V., Klee, E. W., Koeleman, B. P. C., Koolen, D. A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R. J., Mackay, M. T., Macke, E. L., McEntagart, M., Mohammad, S. S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A. M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P. S., Rosenow, F., Rossi, M., Sadleir, L. G., Sadoway, T., Schelhaas, H. J., Schneider, A. L., Shah, K., Shalev, R., Sisodiya, S. M., Smol, T., Stumpel, C. T. R. M., Stuurman, K., Symonds, J. D., Mau-Them, F. T., Verbeek, N., Verhoeven, J. S., Wallace, G., Yosovich, K., Zarate, Y. A., Zerem, A., Zuberi, S. M., Guerrini, R., Mefford, H. C., Patel, C., Zhang, Y-H., Møller, R. S. & Scheffer, I. E., Feb 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 2, p. 363-373 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published
  19. E-pub ahead of print

    Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update

    Aamir, A., Kuht, H. J., Grønskov, K., Brooks, B. P. & Thomas, M. G., 27 Jan 2021, (E-pub ahead of print) In: European journal of human genetics : EJHG.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. E-pub ahead of print

    Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

    Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study, 22 Jan 2021, (E-pub ahead of print) In: American Journal of Obstetrics and Gynecology.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Det danske screeningsprogram for hæmoglobinopatier

    Glenthøj, A., Samson, M., Toft, N., Diness, B. R., Askj R, N., Vojdeman, F. J., Birgens, H., Sørensen, M. B. & Petersen, J., 18 Jan 2021, In: Ugeskrift for Laeger. 183, 3

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. E-pub ahead of print

    Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome

    Hildonen, M., Levy, A. M., Dahl, C., Bjerregaard, V. A., Birk Møller, L., Guldberg, P., Debes, N. M. & Tümer, Z., 12 Jan 2021, (E-pub ahead of print) In: Genes. 12, 1, p. 1-10 10 p., 86.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Citrulline as a biomarker of bacteraemia during induction treatment for childhood acute lymphoblastic leukaemia

    De Pietri, S., Frandsen, T. L., Christensen, M., Grell, K., Rathe, M. & Müller, K., Jan 2021, In: Pediatric Blood & Cancer. 68, 1, p. e28793

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Beauregard-Lacroix, E., Pacheco-Cuellar, G., Ajeawung, N. F., Tardif, J., Dieterich, K., Dabir, T., Vind-Kezunovic, D., White, S. M., Zadori, D., Castiglioni, C., Tranebjærg, L., Tørring, P. M., Blair, E., Wisniewska, M., Camurri, M. V., van Bever, Y., Molidperee, S., Taylor, J., Dionne-Laporte, A., Sisodiya, S. M., Hennekam, R. C. M. & Campeau, P. M., Jan 2021

    Research output: Other contributionCommunication

  25. Published

    DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Beauregard-Lacroix, E., Pacheco-Cuellar, G., Ajeawung, N. F., Tardif, J., Dieterich, K., Dabir, T., Vind-Kezunovic, D., White, S. M., Zadori, D., Castiglioni, C., Tranebjærg, L., Tørring, P. M., Blair, E., Wisniewska, M., Camurri, M. V., van Bever, Y., Molidperee, S., Taylor, J., Dionne-Laporte, A., Sisodiya, S. M., Hennekam, R. C. M. & Campeau, P. M., Jan 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 1, p. 149-154

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18

    Steffensen, E. H., Hyett, J., Petersen, O. B., Vogel, I., Danish Cytogenetic Central Registry Study Group, Fagerberg, C., Bache, I. & Hansen, J. F., Jan 2021, In: Prenatal Diagnosis. 41, 2, p. 218-225 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study

    Í Dali, C., Groeschel, S., Moldovan, M., Farah, M. H., Krägeloh-Mann, I., Wasilewski, M., Li, J., Barton, N. & Krarup, C., Jan 2021, In: Annals of Clinical and Translational Neurology. 8, 1, p. 66-80 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations

    Trier, C., Hollensted, M., Schnurr, T. M., Lund, M. A. V., Nielsen, T. R. H., Rui, G., Andersson, E. A., Svendstrup, M., Bille, D. S., Gjesing, A. P., Fonvig, C. E., Frithioff-Bøjsøe, C., Balslev-Harder, M., Quan, S., Gamborg, M., Pedersen, O., Ängquist, L., Holm, J-C. & Hansen, T., Jan 2021, In: International journal of obesity (2005). 45, 1, p. 66-76 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

    Jelsig, A. M., Bertelsen, B., Forss, I. & Karstensen, J. G., Jan 2021, In: Familial Cancer. 20, 1, p. 55-59 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. E-pub ahead of print

    Facial Asymmetry in Nonsyndromic and Muenke Syndrome-Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

    Öwall, L., Darvann, T. A., Hove, H. B., Heliövaara, A., Dunø, M., Kreiborg, S. & Hermann, N. V., 2021, (E-pub ahead of print) In: Cleft Palate-Craniofacial Journal. p. 1055665620959983

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. E-pub ahead of print

    Structural aberrations are associated with poor survival in patients with clonal cytopenia of undetermined significance

    Mikkelsen, S. U., Safavi, S., Dimopoulos, K., O'Rourke, C. J., Andersen, M. K., Holm, M. S., Marcher, C. W., Andersen, J. B., Hansen, J. W. & Grønbæk, K., 2021, (E-pub ahead of print) In: Haematologica. Online ahead of print

    Research output: Contribution to journalLetterpeer-review

  32. 2020
  33. Published
  34. Published

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

    Byrjalsen, A., Hansen, T. V. O., Stoltze, U. K., Mehrjouy, M. M., Barnkob, N. M., Hjalgrim, L. L., Mathiasen, R., Lautrup, C. K., Gregersen, P. A., Hasle, H., Wehner, P. S., Tuckuviene, R., Sackett, P. W., Laspiur, A. O., Rossing, M., Marvig, R. L., Tommerup, N., Olsen, T. E., Scheie, D., Gupta, R., Gerdes, A-M., Schmiegelow, K. & Wadt, K., 17 Dec 2020, In: Plos Genetics. 16, 12, p. e1009231 e1009231.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

    Yang, X., Song, H., Leslie, G., Engel, C., Hahnen, E., Auber, B., Horváth, J., Kast, K., Niederacher, D., Turnbull, C., Houlston, R., Hanson, H., Loveday, C., Dolinsky, J. S., LaDuca, H., Ramus, S. J., Menon, U., Rosenthal, A. N., Jacobs, I., Gayther, S. A., Dicks, E., Nevanlinna, H., Aittomäki, K., Pelttari, L. M., Ehrencrona, H., Borg, Å., Kvist, A., Rivera, B., Hansen, T. V. O., Djursby, M., Lee, A., Dennis, J., Bowtell, D. D., Traficante, N., Diez, O., Balmaña, J., Gruber, S. B., Chenevix-Trench, G., Investigators, KC., Jensen, A., Kjær, S. K., Høgdall, E., Castéra, L., Garber, J., Janavicius, R., Osorio, A., Golmard, L., Vega, A., Couch, F. J., Robson, M., Gronwald, J., Domchek, S. M., Culver, J. O., de la Hoya, M., Easton, D. F., Foulkes, W. D., Tischkowitz, M., Meindl, A., Schmutzler, R. K., Pharoah, P. D. P. & Antoniou, A. C., 14 Dec 2020, In: National Cancer Institute. Journal (Online). 112, 12, p. 1242-1250 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

    Oliva-Teles, N., de Stefano, M. C., Gallagher, L., Rakic, S., Jorge, P., Cuturilo, G., Markovska-Simoska, S., Borg, I., Wolstencroft, J., Tümer, Z., Harwood, A. J., Kodra, Y. & Skuse, D., 2 Dec 2020, In: International Journal of Environmental Research and Public Health. 17, 24, p. 9253

    Research output: Contribution to journalReviewpeer-review

  37. Published

    Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

    Charlton, J. R., Tan, W., Daouk, G., Teot, L., Rosen, S., Bennett, K. M., Cwiek, A., Nam, S., Emma, F., Jouret, F., Oliveira, J. P., Tranebjærg, L., Frykholm, C., Mane, S., Hildebrandt, F., Srivastava, T., Storm, T., Christensen, E. I. & Nielsen, R., 1 Dec 2020, In: American Journal of Physiology - Renal Physiology. 319, 6, p. F988-F999

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with Marfan Syndrome assessed by HR-pQCT

    Folkestad, L., Groth, K. A., Shanbhogue, V., Hove, H., Kyhl, K., Østergaard, J. R., Jørgensen, N. R., Andersen, N. H. & Gravholt, C. H., Dec 2020, In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 35, 12, p. 2335-2344 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published
  40. Published

    Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

    Bech, S., Løkkegaard, A., Nielsen, T. T., Nørremølle, A., Grønborg, S., Hasholt, L., Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, N., Mang, Y., Bak, M., Nielsen, J. E., Eiberg, H. & Hjermind, L. E., Dec 2020, In: Movement disorders : official journal of the Movement Disorder Society. 35, 12, p. 2343-2347 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    The molecular profile of mucosal melanoma

    Mikkelsen, L. H., Maag, E., Andersen, M. K., Kruhøffer, M., Larsen, A-C., Melchior, L. C., Toft, P. B., von Buchwald, C., Wadt, K. & Heegaard, S., Dec 2020, In: Melanoma Research. 30, 6, p. 533-542 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

    Gut, P., Matilainen, S., Meyer, J. G., Pällijeff, P., Richard, J., Carroll, C. J., Euro, L., Jackson, C. B., Isohanni, P., Minassian, B. A., Alkhater, R. A., Østergaard, E., Civiletto, G., Parisi, A., Thevenet, J., Rardin, M. J., He, W., Nishida, Y., Newman, J. C., Liu, X., Christen, S., Moco, S., Locasale, J. W., Schilling, B., Suomalainen, A. & Verdin, E., 23 Nov 2020, In: Nature Communications. 11, 1, p. 5927

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

    Olafsdottir, E. J., Borg, A., Jensen, M-B., Gerdes, A-M., Johansson, A. L. V., Barkardottir, R. B., Johannsson, O. T., Ejlertsen, B., Sønderstrup, I. M. H., Hovig, E., Lænkholm, A-V., Hansen, T. V. O., Olafsdottir, G. H., Rossing, M., Jonasson, J. G., Sigurdsson, S., Loman, N., Nilsson, M. P., Narod, S. A. & Tryggvadottir, L., Nov 2020, In: British Journal of Cancer. 123, 11, p. 1608-1615 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

    Döring, J. H., Saffari, A., Bast, T., Brockmann, K., Ehrhardt, L., Fazeli, W., Janzarik, W. G., Kluger, G., Muhle, H., Møller, R. S., Platzer, K., Santos, J. L., Bache, I., Bertsche, A., Bonfert, M., Borggräfe, I., Broser, P. J., Datta, A. N., Hammer, T. B., Hartmann, H., Hasse-Wittmer, A., Henneke, M., Kühne, H., Lemke, J. R., Maier, O., Matzker, E., Merkenschlager, A., Opp, J., Patzer, S., Rostasy, K., Stark, B., Strzelczyk, A., von Stülpnagel, C., Weber, Y., Wolff, M., Zirn, B., Hoffmann, G. F., Kölker, S. & Syrbe, S., 28 Oct 2020, In: Biomedicines. 8, 11, p. 456

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Crosstalk of Hedgehog and mTORC1 Pathways

    Larsen, L. J. & Møller, L. B., 18 Oct 2020, In: Cells. 9, 10

    Research output: Contribution to journalReviewpeer-review

  46. Published

    Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores

    Clausen, C. S., Ljubicic, M. L., Main, K. M., Andersson, A-M., Petersen, J. H., Frederiksen, H., Duno, M., Johannsen, T. H. & Juul, A., 5 Oct 2020, In: Hormone research in paediatrics. 93, 4, p. 226-238 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Kaur, S., Van Bergen, N. J., Verhey, K. J., Nowell, C. J., Budaitis, B., Yue, Y., Ellaway, C., Brunetti-Pierri, N., Cappuccio, G., Bruno, I., Boyle, L., Nigro, V., Torella, A., Roscioli, T., Cowley, M. J., Massey, S., Sonawane, R., Burton, M. D., Schonewolf-Greulich, B., Tümer, Z., Chung, W. K., Gold, W. A. & Christodoulou, J., 1 Oct 2020, In: Human Mutation. 41, 10, p. 1761-1774 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Holm-Yildiz, S., Krag, T., Witting, N., Duno, M., Soerensen, T. & Vissing, J., 1 Oct 2020, In: Journal of Neuropathology and Experimental Neurology. 79, 10, p. 1127-1129 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Trimouille, A., Tingaud-Sequeira, A., Lacombe, D., Duelund Hjortshøj, T., Kreiborg, S., Buciek Hove, H. & Rooryck, C., Oct 2020, In: Clinical Genetics. 98, 4, p. 384-389 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

    Nochi, Z., Birkler, R. I. D., Fernandez-Guerra, P., Hansen, J., Wibrand, F., Corydon, T. J., Gregersen, N. & Olsen, R. K. J., Oct 2020, In: Pediatric Research. 88, 4, p. 556-564 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    GEMO Study Collaborators, Oct 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 10, p. 1653-1666 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Recessive Inheritance of a Rare Variant in the Nuclear Mitochondrial Gene for AARS2 in Late-Onset Dilated Cardiomyopathy

    Nielsen, S. K., Hansen, F., Schrøder, H. D., Wibrand, F., Gustafsson, F. & Mogensen, J., Oct 2020, In: Circulation. Genomic and precision medicine. 13, 5, p. 560-562 3 p.

    Research output: Contribution to journalLetterpeer-review

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