Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

by Locke, Devin P, Archidiacono, Nicoletta, Misceo, Doriana, Cardone, Maria Francesca, Deschamps, Stephane, Roe, Bruce, Rocchi, Mariano, Eichler, Evan E
Published 2003

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

by Hladilkova, Eva, Barøy, Tuva, Fannemel, Madeleine, Vallova, Vladimira, Misceo, Doriana, Bryn, Vesna, Slamova, Iva, Prasilova, Sarka, Kuglik, Petr, Frengen, Eirik
Published 2015

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

by Pedurupillay, Christeen Ramane J., Landsend, Erlend Christoffer Sommer, Vigeland, Magnus Dehli, Ansar, Muhammad, Frengen, Eirik, Misceo, Doriana, Strømme, Petter
Published 2016

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

by Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug Kristin, Blomhoff, Anne, Helle, Johan Robert, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik
Published 2013

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

by Wedding, Iselin Marie, Koht, Jeanette, Tran, Gia Tuong, Misceo, Doriana, Selmer, Kaja Kristine, Holmgren, Asbjørn, Frengen, Eirik, Bindoff, Laurence, Tallaksen, Chantal M. E., Tzoulis, Charalampos
Published 2014

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

by Skauli, Nadia, Wallace, Sean, Chiang, Samuel C. C., Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T., Strømme, Petter, Frengen, Eirik, Misceo, Doriana
Published 2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

by Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Published 2016