Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Jespersgaard, C., Bertelsen, M., Arif, F., Gellert-Kristensen, H. G., Fang, M., Jensen, H., Rosenberg, T., Tümer, Z., Møller, L. B., Brøndum-Nielsen, K. & Grønskov, K., 18 Dec 2020, In : Genes. 11, 12

Research output: Contribution to journal › Journal article › Research › peer-review

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., 10 Dec 2020, In : International Journal of Environmental Research and Public Health. 17, 24

Research output: Contribution to journal › Review › Research › peer-review

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 journal › Journal article › Research › peer-review

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

Hildonen, M., Knak, K. L., Dunø, M., Vissing, J. & Tümer, Z., 13 Aug 2020, In : Genes. 11, 8, p. 936

Research output: Contribution to journal › Journal article › Research › peer-review

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

Hjortshøj, T. D., Sørensen, A. R., Yusibova, M., Hansen, B. M., Dunø, M., Balslev-Harder, M., Grønskov, K., van Hagen, J. M., Polstra, A. M., Eggermann, T., Finken, M. J. J. & Tümer, Z., Jun 2020, In : Clinical Genetics. 97, 6, p. 902-907 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Krab, L. C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J. B., Bisgaard, A-M., Fitzpatrick, D. R., Gudmundsson, S., Huisman, S. A., Kalayci, T., Maas, S. M., Martinez, F., McKee, S., Menke, L. A., Mulder, P. A., Murch, O. D., Parker, M., Pie, J., Ramos, F. J., Rieubland, C., Rosenfeld Mokry, J. A., Scarano, E., Shinawi, M., Gómez-Puertas, P., Hennekam, R. C. & Tümer, Z., May 2020, In : Human Genetics. 139, 5, p. 575-592 18 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Chromothripsis and DNA Repair Disorders

Nazaryan-Petersen, L., Bjerregaard, V. A., Nielsen, F. C., Tommerup, N. & Tümer, Z., 25 Feb 2020, In : Journal of Clinical Medicine. 9, 3

Research output: Contribution to journal › Review › Research › peer-review

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Jespersgaard, C., Hey, A. B., Ilginis, T., Hjortshøj, T. D., Fang, M., Bertelsen, M., Bech, N., Jensen, H., Larsen, L. J., Tümer, Z., Rosenberg, T., Brøndum-Nielsen, K., Møller, L. B. & Grønskov, K., 7 Feb 2020, In : Investigative ophthalmology & visual science. 61, 2, p. 29 2761939.

Research output: Contribution to journal › Journal article › Research › peer-review

Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

Bjerregaard, V. A., Schönewolf-Greulich, B., Juel Rasmussen, L., Desler, C. & Tümer, Z., 2020, In : Frontiers in Neurology. 11, p. 163

Research output: Contribution to journal › Journal article › Research › peer-review

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

Hey, C. A. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., Dec 2019, In : Stem Cell Research. 41, p. 101594

Research output: Contribution to journal › Journal article › Research › peer-review

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Sands, T. T., Miceli, F., Lesca, G., Beck, A. E., Sadleir, L. G., Arrington, D. K., Schönewolf-Greulich, B., Moutton, S., Lauritano, A., Nappi, P., Soldovieri, M. V., Scheffer, I. E., Mefford, H. C., Stong, N., Heinzen, E. L., Goldstein, D. B., Perez, A. G., Kossoff, E. H., Stocco, A., Sullivan, J. A., Shashi, V., Gerard, B., Francannet, C., Bisgaard, A-M., Tümer, Z., Willems, M., Rivier, F., Vitobello, A., Thakkar, K., Rajan, D. S., Barkovich, A. J., Weckhuysen, S., Cooper, E. C., Taglialatela, M. & Cilio, M. R., Aug 2019, In : Annals of Neurology. 86, 2, p. 181-192 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Development, behaviour and autism in individuals with SMC1A variants

Tümer, Z., Mulder, P. A., Huisman, S., Landlust, A. M., Moss, J., Piening, S., Hennekam, R. C., van Balkom, I. D. C. & SMC1A Consortium, Mar 2019, In : Journal of Child Psychology and Psychiatry and Allied Disciplines. 60, 3, p. 305-313 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Karolak, J. A., Vincent, M., Deutsch, G., Gambin, T., Cogné, B., Pichon, O., Vetrini, F., Mefford, H. C., Dines, J. N., Golden-Grant, K., Dipple, K., Freed, A. S., Leppig, K. A., Dishop, M., Mowat, D., Bennetts, B., Gifford, A. J., Weber, M. A., Lee, A. F., Boerkoel, C. F., Bartell, T. M., Ward-Melver, C., Besnard, T., Petit, F., Bache, I., Tümer, Z., Denis-Musquer, M., Joubert, M., Martinovic, J., Bénéteau, C., Molin, A., Carles, D., André, G., Bieth, E., Chassaing, N., Devisme, L., Chalabreysse, L., Pasquier, L., Secq, V., Don, M., Orsaria, M., Missirian, C., Mortreux, J., Sanlaville, D., Pons, L., Küry, S., Bézieau, S., Liet, J-M., Joram, N., Bihouée, T., Scott, D. A., Brown, C. W., Scaglia, F., Tsai, A. C-H., Grange, D. K., Phillips, J. A., Pfotenhauer, J. P., Jhangiani, S. N., Gonzaga-Jauregui, C. G., Chung, W. K., Schauer, G. M., Lipson, M. H., Mercer, C. L., van Haeringen, A., Liu, Q., Popek, E., Coban Akdemir, Z. H., Lupski, J. R., Szafranski, P., Isidor, B., Le Caignec, C. & Stankiewicz, P., 7 Feb 2019, In : American Journal of Human Genetics. 104, 2, p. 213-228 16 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Jespersgaard, C., Fang, M., Bertelsen, M., Dang, X., Jensen, H., Chen, Y., Bech, N., Dai, L., Rosenberg, T., Zhang, J., Møller, L. B., Tümer, Z., Brøndum-Nielsen, K. & Grønskov, K., 4 Feb 2019, In : Scientific Reports. 9, 1, p. 1219 1219.

Research output: Contribution to journal › Journal article › Research › peer-review

Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., 2019, In : Clinical Genetics. 95, 2, p. 221-230 10 p.

Research output: Contribution to journal › Review › Research › peer-review

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Tümer, Z., Hjortshøj, T. D. & DDD Study, 2019, In : European journal of human genetics : EJHG. 27, 2, p. 278-290 13 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Schönewolf-Greulich, B., Bisgaard, A-M., Dunø, M., Jespersgaard, C., Rokkjaer, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Z., 2019, In : Clinical Genetics. 95, 3, p. 403-408 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., Dec 2018, In : Stem Cell Research. 33, p. 46-50 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M., Tommerup, N., Lundberg, E. S., Tümer, Z. & Lindstrand, A., Nov 2018, In : P L o S Genetics. 14, 11, p. e1007780

Research output: Contribution to journal › Journal article › Research › peer-review

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A-M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. & Hennekam, R. C., Oct 2018, In : Nature Reviews. Genetics. 19, 10, p. 649-666 18 p.

Research output: Contribution to journal › Review › Research › peer-review

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., Aug 2018, In : Stem Cell Research. 31, p. 235-239 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Uniparental Disomy and Imprinting Disorders

Eggermann, T., Mackay, D. J. G. & Tümer, Z., 28 Jun 2018, In : OBM Genetics. 2, 3, p. 1803031

Research output: Contribution to journal › Journal article › Research › peer-review

Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

Jelsig, A. M., Brøndum-Nielsen, K. & Tümer, A. Z., 4 Jun 2018, In : Ugeskrift for Laeger. 180, 23, p. V10170731

Research output: Contribution to journal › Journal article › Research › peer-review

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Wolfe, K., McQuillin, A., Alesi, V., Boudry Labis, E., Cutajar, P., Dallapiccola, B., Dentici, M. L., Dieux-Coeslier, A., Duban-Bedu, B., Duelund Hjortshøj, T., Goel, H., Loddo, S., Morrogh, D., Mosca-Boidron, A-L., Novelli, A., Olivier-Faivre, L., Parker, J., Parker, M. J., Patch, C., Pelling, A. L., Smol, T., Tümer, Z., Vanakker, O., van Haeringen, A., Vanlerberghe, C., Strydom, A., Skuse, D. & Bass, N., Jun 2018, In : American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 177/4, p. 397-405

Research output: Contribution to journal › Journal article › Research › peer-review

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

Tümer, Z., López-Hernández, J. A., Netchine, I., Elbracht, M., Grønskov, K., Gede, L. B., Sachwitz, J., den Dunen, J. T. & Eggermann, T., Mar 2018, In : Human Mutation. 39, 3, p. 345-364

Research output: Contribution to journal › Journal article › Research › peer-review

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

Monk, D., Morales, J., den Dunnen, J. T., Russo, S., Court, F., Prawitt, D., Eggermann, T., Beygo, J., Buiting, K. & Tümer, Z., 25 Jan 2018, In : Clinical Epigenetics. p. 117-121

Research output: Contribution to journal › Journal article › Research › peer-review

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., Boonen, S. E., Cole, T., Baker, R., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., Lapunzina, P., Le Bouc, Y., Maas, S. M., Macdonald, F., Õunap, K., Peruzzi, L., Rossignol, S., Russo, S., Shipster, C., Skórka, A., Tatton-Brown, K., Tenorio, J., Tortora, C., Grønskov, K., Netchine, I., Hennekam, R. C., Prawitt, D., Tümer, Z., Eggermann, T., Mackay, D. J. G., Riccio, A. & Maher, E. R., 2018, In : Nature reviews. Endocrinology. 14, p. 229–249

Research output: Contribution to journal › Review › Research › peer-review

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

Hasholt, L., Ballegaard, M., Bundgaard, H., Christiansen, M., Law, I., Lund, A. M., Norremolle, A., Krogh Rasmussen, A., Ravn, K., Tumer, Z., Wibrand, F. & Feldt-Rasmussen, U., Dec 2017, In : Scandinavian Journal of Clinical and Laboratory Investigation. 77, 8, p. 617-621 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment

Tümer, Z., Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N. & Møller, L. B., Nov 2017, In : Clinical Genetics. 92, 5, p. 548-553 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., Canton, A. P. M., Chrzanowska, K. H., Davies, J. H., Dias, R. P., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Grønskov, K., Hokken-Koelega, A. C. S., Jorge, A. A., Kagami, M., Linglart, A., Maghnie, M., Mohnike, K., Monk, D., Moore, G. E., Murray, P. G., Ogata, T., Petit, I. O., Russo, S., Said, E., Toumba, M., Tümer, Z., Binder, G., Eggermann, T., Harbison, M. D., Temple, I. K., Mackay, D. J. G. & Netchine, I., 2 Sep 2017, In : Nature reviews. Endocrinology. 13, 2, p. 105-124

Research output: Contribution to journal › Journal article › Research › peer-review

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

Cornelius, N., Wardman, J. H., Hargreaves, I. P., Neergheen, V., Bie, A. S., Tümer, Z., Nielsen, J. E. & Nielsen, T. T., May 2017, In : Mitochondrion. 34, p. 103-114 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Recent Advances in Imprinting Disorders

Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., Riccio, A., Linglart, A., Netchine, I. & Eggermann, T., Jan 2017, In : Clinical Genetics. 91, 1, p. 3-13 11 p.

Research output: Contribution to journal › Review › Research › peer-review

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature

Boyle, M. I., Jespersgaard, C., Nazaryan-Petersen, L., Bisgaard, A-M. & Tümer, Z., 2017, In : Clinical Genetics. 91, 4, p. 647-649

Research output: Contribution to journal › Letter › Research › peer-review

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark

Grønskov, K., Redó-Riveiro, A., Jelveh Sandfeld, L., Zibrandtsen, N., Harris, P., Bach-Holm, D. & Tümer, Z., 4 Nov 2016, In : Journal of Glaucoma. 25, 12, p. 926-930

Research output: Contribution to journal › Journal article › Research › peer-review

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

Roos, L., Jensen, H., Grønskov, K., Holst, R. & Tümer, Z., Oct 2016, In : Ophthalmic Epidemiology. 23, 5, p. 324-30 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

Bertelsen, B., Stefánsson, H., Riff Jensen, L., Melchior, L., Debes, N. M. M., Groth, C., Skov, L., Werge, T., Karagiannidis, I., Tarnok, Z., Barta, C., Nagy, P., Farkas, L., Brøndum-Nielsen, K., Rizzo, R., Gulisano, M., Rujescu, D., Kiemeney, L. A., Tosato, S., Nawaz, M. S., Ingason, A., Unnsteinsdottir, U., Steinberg, S., Ludvigsson, P., Stefansson, K., Kuss, A. W., Paschou, P., Cath, D., Hoekstra, P. J., Müller-Vahl, K., Stuhrmann, M., Silahtaroglu, A., Pfundt, R. & Tümer, Z., 3 Sep 2016, In : Biological Psychiatry. 79, 5, p. 383-91

Research output: Contribution to journal › Journal article › Research › peer-review

TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

Forde, N. J., Kanaan, A. S., Widomska, J., Padmanabhuni, S. S., Nespoli, E., Alexander, J., Rodriguez Arranz, J. I., Fan, S., Houssari, R., Nawaz, M. S., Rizzo, F., Pagliaroli, L., Zilhäo, N. R., Aranyi, T., Barta, C., Boeckers, T. M., Boomsma, D. I., Buisman, W. R., Buitelaar, J. K., Cath, D., Dietrich, A., Driessen, N., Drineas, P., Dunlap, M., Gerasch, S., Glennon, J., Hengerer, B., van den Heuvel, O. A., Jespersgaard, C., Möller, H. E., Müller-Vahl, K. R., Openneer, T. J. C., Poelmans, G., Pouwels, P. J. W., Scharf, J. M., Stefansson, H., Tümer, Z., Veltman, D. J., van der Werf, Y. D., Hoekstra, P. J., Ludolph, A. & Paschou, P., 23 Aug 2016, In : Frontiers in Neuroscience. 10, p. 384

Research output: Contribution to journal › Journal article › Research › peer-review

Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

Hansen, S. K., Stummann, T. C., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., 16 Aug 2016, In : Stem Cell Research. 17, 2, p. 306-317 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis

Jennum, P. J., Kornum, B. R., Issa, N. M., Gammeltoft, S., Tommerup, N., Morling, N., Tümer, Z. & Knudsen, S., Aug 2016, In : Neurology® neuroimmunology & neuroinflammation. 3, 4, p. e249

Research output: Contribution to journal › Journal article › Research › peer-review

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Schönewolf-Greulich, B., Tejada, M-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A-M. & Tümer, Z., Jun 2016, In : Clinical Genetics. 89, 6, p. 733-8 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tümer, Z., Monk, D., Moore, G., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A., Weksberg, R., Lapunzina, P., Grønskov, K., Mackay, D. J. & Eggermann, T., 11 May 2016, In : European journal of human genetics : EJHG. 24, p. 1377–1387

Research output: Contribution to journal › Journal article › Research › peer-review

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In : Stem Cell Research. 16, 3, p. 553-6 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In : Stem Cell Research. 16, 3, p. 589-92 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

Nazaryan-Petersen, L., Bertelsen, B., Bak, M., Jønson, L., Tommerup, N., Hancks, D. C. & Tümer, Z., Apr 2016, In : Human Mutation. 37, 4, p. 385-95 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Jespersgaard, C., Damgaard, I. N., Cornelius, N., Bache, I., Knabe, N., Miranda, M. J. & Tümer, Z., Feb 2016, In : Molecular Cytogenetics. 9, 1, 7 p., 11.

Research output: Contribution to journal › Journal article › Research › peer-review

A germline chromothripsis event stably segregating in 11 individuals through three generations

Bertelsen, B., Nazaryan, L., Sun, W., Mehrjouy, M. M., Xie, G., Chen, W., Hjermind, L. E., Taschner, P. E. M. & Tümer, Z., 2016, In : Genetics in medicine : official journal of the American College of Medical Genetics. 18, p. 494–500

Research output: Contribution to journal › Journal article › Research › peer-review

Feasibilty study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

Gede, L. B., Hahnemann, J. M., Tümer, Z., Brøndum-Nielsen, K. & Grønskov, K., 2016, In : Prenatal Diagnosis. 36, 1, p. 100-103

Research output: Contribution to journal › Journal article › Research › peer-review

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

Bak, M., Boonen, S. E., Dahl, C., Hahnemann, J. M. D., Mackay, D. J. D. G., Tümer, Z., Grønskov, K., Temple, I. K., Guldberg, P. & Tommerup, N., 2016, In : BMC Medical Genetics. 17, p. 29

Research output: Contribution to journal › Journal article › Research › peer-review