Expanding the ataxia with oculomotor apraxia type 4 phenotype

Por Paucar, Martin, Malmgren, Helena, Taylor, Malcolm, Reynolds, John J., Svenningsson, Per, Press, Rayomand, Nordgren, Ann
Publicado no Neurol Genet (2016)

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

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

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Por 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
Publicado no Am J Hum Genet (2015)

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

Por 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
Publicado no Eur J Hum Genet (2016)

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

Por 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
Publicado em 2014

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Por 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
Publicado no Eur J Hum Genet (2015)

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Por 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
Publicado no 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

Por 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
Publicado no Am J Hum Genet (2016)