2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

por Kanavin, Oivind J, Woldseth, Berit, Jellum, Egil, Tvedt, Bjorn, Andresen, Brage S, Stromme, Petter
Publicado 2007

Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study

por Stromme, Petter, Kanavin, Oivind Juris, Abdelnoor, Michael, Woldseth, Berit, Rootwelt, Terje, Diderichsen, Jorgen, Bjurulf, Bjorn, Sommer, Finn, Magnus, Per
Publicado 2007

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

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

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

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

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

por Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik
Publicado 2020

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

por Strømme, Petter, Dobrenis, Kostantin, Sillitoe, Roy V., Gulinello, Maria, Ali, Nafeeza F., Davidson, Cristin, Micsenyi, Matthew C., Stephney, Gloria, Ellevog, Linda, Klungland, Arne, Walkley, Steven U.
Publicado 2011

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

por 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
Publicado 2013

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome

por Misceo, Doriana, Senaratne, Lokuliyanage Dona Samudita, Mero, Inger-Lise, Sundaram, Arvind Y. M., Bjørnstad, Pål Marius, Szczałuba, Krzysztof, Gasperowicz, Piotr, Kamien, Benjamin, Nedregaard, Bård, Holmgren, Asbjørn, Strømme, Petter, Frengen, Eirik
Publicado 2023

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

por Misceo, Doriana, Lirussi, Lisa, Strømme, Petter, Sumathipala, Dulika, Guerin, Andrea, Wolf, Nicole I, Server, Andres, Stensland, Maria, Dalhus, Bjørn, Tolun, Aslıhan, Kroes, Hester Y, Nyman, Tuula A, Nilsen, Hilde L, Frengen, Eirik
Publicado 2023

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

por Sumathipala, Dulika, Strømme, Petter, Fattahi, Zohreh, Lüders, Torben, Sheng, Ying, Kahrizi, Kimia, Einarsen, Ingunn Holm, Sloan, Jennifer L, Najmabadi, Hossein, van den Heuvel, Lambert, Wevers, Ron A, Guerrero-Castillo, Sergio, Mørkrid, Lars, Valayannopoulos, Vassili, Backe, Paul Hoff, Venditti, Charles P, van Karnebeek, Clara D, Nilsen, Hilde, Frengen, Eirik, Misceo, Doriana
Publicado 2022

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

por Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana
Publicado 2020

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

por Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G
Publicado 2015

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

por Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publicado 2017

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

por 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
Publicado 2016

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

por Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
Publicado 2020