Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy von Jespersgaard, Cathrine, Fang, Mingyan, Bertelsen, Mette, Dang, Xiao, Jensen, Hanne, Chen, Yulan, Bech, Niels, Dai, Lanlan, Rosenberg, Thomas, Zhang, Jianguo, Møller, Lisbeth Birk, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen

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Increasing the complexity: new genes and new types of albinism von Montoliu, Lluís, Grønskov, Karen, Wei, Ai-Hua, Martínez-García, Mónica, Fernández, Almudena, Arveiler, Benoît, Morice-Picard, Fanny, Riazuddin, Saima, Suzuki, Tamio, Ahmed, Zubair M., Rosenberg, Thomas, Li, Wei

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Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism von Grønskov, Karen, Dooley, Christopher M., Østergaard, Elsebet, Kelsh, Robert N., Hansen, Lars, Levesque, Mitchell P., Vilhelmsen, Kaj, Møllgård, Kjeld, Stemple, Derek L., Rosenberg, Thomas

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Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy von Kodal, Louise Sloth, Hammer-Hansen, Sophia, Holm-Yildiz, Sonja, Grønskov, Karen, Karstensen, Helena Gásdal, Dysgaard, Tina

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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci von Eggermann, Thomas, Perez de Nanclares, Guiomar, Maher, Eamonn R, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J G, Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène

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Causes of poor eye contact in infants: a population-based study von Levinsen, Mette, Borresen, Malene Landbo, Roos, Laura, Gronskov, Karen, Kessel, Line

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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium von Jespersgaard, Cathrine, Hey, Amalie Brunbjerg, Ilginis, Tomas, Hjortshoj, Tina Duelund, Fang, Mingyan, Bertelsen, Mette, Bech, Niels, Jensen, Hanne, Larsen, Lasse Jonsgaard, Tumer, Zeynep, Rosenberg, Thomas, Brondum-Nielsen, Karen, Moller, Lisbeth Birk, Gronskov, Karen

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Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database von Tümer, Zeynep, López‐Hernández, Julia Angélica, Netchine, Irène, Elbracht, Miriam, Grønskov, Karen, Gede, Lene Bjerring, Sachwitz, Jana, den Dunnen, Johan T., Eggermann, Thomas

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Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis von Mertz, Line Granild Bie, Christensen, Rikke, Vogel, Ida, Hertz, Jens Michael, Nielsen, Karen Brøndum, Grønskov, Karen, Østergaard, John R.

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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant von Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts von Hjortshøj, Tina D., Sørensen, Anna R., Yusibova, Melodi, Hansen, Bo M., Dunø, Morten, Balslev‐Harder, Marie, Grønskov, Karen, Hagen, Johanna M., Polstra, Abeltje M., Eggermann, Thomas, Finken, Martijn J.J., Tümer, Zeynep

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Transient Neonatal Diabetes, ZFP57 , and Hypomethylation of Multiple Imprinted Loci von Boonen, Susanne E., Mackay, Deborah J.G., Hahnemann, Johanne M.D., Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G., Haemers, Andreas P., Kockaerts, Yves, Dooms, Lutgarde, Vũ, Dũng Chí, Ngoc, C.T. Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F., Tümer, Zeynep, Temple, I. Karen

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Oculocutaneous albinism von Grønskov, Karen, Ek, Jakob, Brondum-Nielsen, Karen

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A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS von Tümer, Zeynep, Bertelsen, Birgitte, Gredal, Ole, Magyari, Melinda, Nielsen, Karen Cecilie, LuCamp, Grønskov, Karen, Brøndum-Nielsen, Karen

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Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa von Jespersgaard, Cathrine, Bertelsen, Mette, Arif, Farah, Gellert-Kristensen, Helene Gry, Fang, Mingyan, Jensen, Hanne, Rosenberg, Thomas, Turner, Zeynep, Moller, Lisbeth Birk, Brondum-Nielsen, Karen, Gronskov, Karen

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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism von Christesen, Henrik Thybo, Christensen, Lene Gaarsmand, Löfgren, Åsa Mattsson, Brøndum-Nielsen, Karen, Svensson, Johan, Brusgaard, Klaus, Samuelsson, Sofie, Elfving, Maria, Jonson, Tord, Grønskov, Karen, Rasmussen, Lars, Backman, Torbjörn, Hansen, Lars Kjaersgaard, Larsen, Annette Rønholt, Petersen, Henrik, Detlefsen, Sönke

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Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT von Hey, Caroline Amalie Brunbjerg, Saltõkowa, Katarina Beata, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up von BOONEN, Susanne E, MACKAY, Deborah J. G, CHI VU, Dũng, BICH NGOC, C. T, BICH NGUYEN, Phuong, KORDONOURI, Olga, SUNDBERG, Frida, DAYANIKLI, Pinar, PUTHI, Vijith, ACERINI, Carlo, MASSOUD, Ahmed F, TÜMER, Zeynep, HAHNEMANN, Johanne M. D, KAREN TEMPLE, I, DOCHERTY, Louise, GRØNSKOV, Karen, LEHMANN, Anna, LARSEN, Lise G, HAEMERS, Andreas P, KOCKAERTS, Yves, DOOMS, Lutgarde

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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 von Hey, Caroline Amalie Brunbjerg, Saltõkowa, Katarina Beata, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes von Hjortshøj, Tina Duelund, Grønskov, Karen, Philp, Alisdair R, Nishimura, Darryl Y, Riise, Ruth, Sheffield, Val C, Rosenberg, Thomas, Brøndum-Nielsen, Karen

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