Paroxysmal Kinesigenic Dyskinesia

nork Paucar, Martin, Malmgren, Helena, Svenningsson, Per
Argitaratua izan da Tremor Other Hyperkinet Mov (N Y) (2017)

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

nork Bergstrand, Sofie, Böhm, Stefanie, Malmgren, Helena, Norberg, Anna, Sundin, Mikael, Nordgren, Ann, Farnebo, Marianne
Argitaratua izan da Cell Death Dis (2020)

Expanding the ataxia with oculomotor apraxia type 4 phenotype

nork Paucar, Martin, Malmgren, Helena, Taylor, Malcolm, Reynolds, John J., Svenningsson, Per, Press, Rayomand, Nordgren, Ann
Argitaratua izan da Neurol Genet (2016)

GSTM1 Gene Expression Correlates to Leiomyoma Volume Regression in Response to Mifepristone Treatment

nork Engman, Mikael, Varghese, Suby, Lagerstedt Robinson, Kristina, Malmgren, Helena, Hammarsjö, Anna, Byström, Birgitta, L Lalitkumar, Parameswaran Grace, Gemzell-Danielsson, Kristina
Argitaratua 2013

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

nork Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva‐Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie‐Louise
Argitaratua izan da Prenat Diagn (2017)

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

nork Skott, Humberto, Muntean-Firanescu, Cristina, Samuelsson, Kristin, Verrecchia, Luca, Svenningsson, Per, Malmgren, Helena, Cananau, Carmen, Espay, Alberto J., Press, Rayomand, Solders, Göran, Paucar, Martin
Argitaratua izan da Cerebellum Ataxias (2019)

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

nork Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann
Argitaratua izan da Am J Hum Genet (2015)

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

nork Tham, Emma, Eklund, Erik A, Hammarsjö, Anna, Bengtson, Per, Geiberger, Stefan, Lagerstedt-Robinson, Kristina, Malmgren, Helena, Nilsson, Daniel, Grigelionis, Gintautas, Conner, Peter, Lindgren, Peter, Lindstrand, Anna, Wedell, Anna, Albåge, Margareta, Zielinska, Katarzyna, Nordgren, Ann, Papadogiannakis, Nikos, Nishimura, Gen, Grigelioniene, Giedre
Argitaratua izan da Eur J Hum Genet (2016)

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell...

nork Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel
Argitaratua izan da Genome Med (2019)

A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

nork Helsmoortel, Céline, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo L., Willemsen, Marjolein H., Vissers, Lisenka E.L.M., Yntema, Helger G., Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Kooy, R. Frank, Eichler, Evan E., Van der Aa, Nathalie
Argitaratua 2014

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

nork Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Argitaratua izan da Eur J Hum Genet (2015)

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

nork Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Argitaratua izan da Eur J Hum Genet (2015)

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

nork Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Argitaratua izan da Am J Hum Genet (2016)

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

nork Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Argitaratua izan da Genome Med (2021)