BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells von Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tumer, Zeynep, Brondum-Nielsen, Karen, Gronskov, Karen, Hjortshoj, Tina Duelund, Moller, Lisbeth Birk

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Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements von Schönewolf‐Greulich, Bitten, Bisgaard, Anne‐Marie, Dunø, Morten, Jespersgaard, Cathrine, Rokkjær, Mette, Hansen, Lars K., Tsoutsou, Eirini, Sofokleous, Christalena, Topcu, Meral, Kaur, Simran, Van Bergen, Nicole J., Brøndum‐Nielsen, Karen, Larsen, Martin J., Sørensen, Kristina P., Christodoulou, John, Fagerberg, Christina R., Tümer, Zeynep

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Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities von Melchior, Linea, Bertelsen, Birgitte, Debes, Nanette Mol, Groth, Camilla, Skov, Liselotte, Mikkelsen, Jens D, Brøndum-Nielsen, Karen, Tümer, Zeynep

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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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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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DXA measurements in rett syndrome reveal small bones with low bone mass von Roende, Gitte, Ravn, Kirstine, Fuglsang, Kathrine, Andersen, Henrik, Bieber Nielsen, Jytte, Brøndum‐Nielsen, Karen, Jensen, Jens‐Erik Beck

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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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Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family von Schönewolf-Greulich, Bitten, Ravn, Kirstine, Hamborg-Petersen, Bente, Brøndum-Nielsen, Karen, Tümer, Zeynep

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A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin von Gundlund, Anna, Hansen, Anne Vinkel, Pedersen, Grete Skøtt, Villadsen, Sarah Fredsted, Mortensen, Laust Hvas, Brøndum-Nielsen, Karen, Andersen, Anne-Marie Nybo

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Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels von Møller, Lisbeth B., Rehfeld, Jens F., Bardow, Allan, Pedersen, Michael, Brøndum-Nielsen, Karen, Jensen, Thomas G., Jensen, Erik, Lund, Allan M., Ahring, Kirsten K., Holst, Jens J.

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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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Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples von Gede, Lene Bjerring, Hahnemann, Johanne M. D., Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen

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Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90 von Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, Lucamp, Lucamp, Brøndum-Nielsen, Karen, Grønskov, Karen

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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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A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 von Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas

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A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment von Sarusie, Menachem V K, Rönnbäck, Cecilia, Jespersgaard, Cathrine, Baungaard, Sif, Ali, Yeasmeen, Kessel, Line, Christensen, Søren T, Brøndum-Nielsen, Karen, Møllgård, Kjeld, Rosenberg, Thomas, Larsen, Lars A, Grønskov, Karen

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

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Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy von Almind, Gitte J, Grønskov, Karen, Milea, Dan, Larsen, Michael, Brøndum-Nielsen, Karen, Ek, Jakob

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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region von Schönewolf-Greulich, Bitten, Ronan, Anne, Ravn, Kristine, Baekgaard, Peter, Lodahl, Marianne, Nielsen, Kate, Rendtorff, Nanna D., Tranebjaerg, Lisbeth, Brøndum-Nielsen, Karen, Tümer, Zeynep

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Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus von Jønch, Aia E., Larsen, Lise G., Pouplier, Susanne, Nielsen, Kate, Brøndum‐Nielsen, Karen, Tümer, Zeynep

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