Clinical and molecular consequences of disease-associated de novo mutations in SATB2 von Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.

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The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study von Kakourou, G, Kahraman, S, Ekmekci, G C, Tac, H A, Kourlaba, G, Kourkouni, E, Sanz, A Cervero, Martin, J, Malmgren, H, Giménez, C, Gold, V, Carvalho, F, Billi, C, Chow, J F C, Vendrell, X, Kokkali, G, Liss, J, Steffann, J, Traeger-Synodinos, J

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Small baseline volume of left hippocampus is associated with subsequent conversion of MCI into dementia: The Göteborg MCI study von Eckerström, C, Olsson, E, Borga, M, Ekholm, S, Ribbelin, S, Rolstad, S, Starck, G, Edman, Å, Wallin, A, Malmgren, H

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2 von Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, FitzPatrick, David R.

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One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre von Haapaniemi Kouru, K., Malmgren, H., Nordenskjöld, M., Fridström, M., Csemiczky, G., Blennow, E.

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Detailed molecular and clinical characterization of three patients with 21q deletions von Lindstrand, A, Malmgren, H, Sahlén, S, Schoumans, J, Nordgren, A, Ergander, U, Holm, E, Anderlid, BM, Blennow, E

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High White Matter Lesion Load Is Associated with Hippocampal Atrophy in Mild Cognitive Impairment von Eckerström, C., Olsson, E., Klasson, N., Bjerke, M., Göthlin, M., Jonsson, M., Rolstad, S., Malmgren, H., Wallin, A., Edman, Å.

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Preimplantation genetic diagnosis: twenty years of practice von Iwarsson, E, Malmgren, H, Blennow, E

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Comparative genomic hybridization and karyotyping of human embryonic stem cells reveals the occurrence of an isodicentric X chromosome after long‐term cultivation von Inzunza, J., Sahlén, S., Holmberg, K., Strömberg, A.‐M., Teerijoki, H., Blennow, E., Hovatta, O., Malmgren, H.

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Combination of Hippocampal Volume and Cerebrospinal Fluid Biomarkers Improves Predictive Value in Mild Cognitive Impairment von Eckerström, C., Andreasson, U., Olsson, E., Rolstad, S., Blennow, K., Zetterberg, H., Malmgren, H., Edman, Å., Wallin, A.

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

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Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH von Lindstrand, A, Schoumans, J, Gustavsson, P, Hanemaaijer, N, Malmgren, H, Blennow, E

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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features von 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

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients von Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Mans, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Bjorck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjo, Anna, Hellstrom-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjold, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stodberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Hakan, Tohonen, Virpi, von Dobeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikstrom, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterstrom, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna

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

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Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation von Eisfeldt, Jesper, Rezayee, Fatemah, Pettersson, Maria, Lagerstedt, Kristina, Malmgren, Helena, Falk, Anna, Grigelioniene, Giedre, Lindstrand, Anna

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Novel findings in a Swedish primary familial brain calcification cohort von Sennfält, Stefan, Gustavsson, Peter, Malmgren, Helena, Gilland, Eric, Almqvist, Håkan, Oscarson, Mikael, Engvall, Martin, Björkhem, Ingemar, Nilsson, Daniel, Lagerstedt-Robinson, Kristina, Svenningsson, Per, Paucar, Martin

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Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing von Wincent, Josephine, Helgadóttir, Hafdís T., Sergouniotis, Fotios, Salazar Mantero, Angelo, Carvalho, Claudia M. B., Malmgren, Helena, Lindstrand, Anna, Iwarsson, Erik

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Concurrent microdeletion and duplication of 22q11.2 von Blennow, E, Lagerstedt, K, Malmgren, H, Sahlén, S, Schoumans, J, Anderlid, BM

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Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders von Paucar, Martin, Laffita-Mesa, José, Niemelä, Valter, Malmgren, Helena, Nennesmo, Inger, Lagerstedt-Robinson, Kristina, Nordenskjöld, Magnus, Svenningsson, Per

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