Search Results - "Måns, Magnusson"

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development by Peyrard-Janvid, Myriam, Leslie, Elizabeth J., Kousa, Youssef A., Smith, Tiffany L., Dunnwald, Martine, Magnusson, Måns, Lentz, Brian A., Unneberg, Per, Fransson, Ingegerd, Koillinen, Hannele K., Rautio, Jorma, Pegelow, Marie, Karsten, Agneta, Basel-Vanagaite, Lina, Gordon, William, Andersen, Bogi, Svensson, Thomas, Murray, Jeffrey C., Cornell, Robert A., Kere, Juha, Schutte, Brian C.

“…Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and…”
Get full text

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

“…We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine…”
Get full text

Experimentally induced deep cervical muscle pain distorts head on trunk orientation by Eva-Maj, Malmström, Hans, Westergren, Per-Anders, Fransson, Mikael, Karlberg, Måns, Magnusson

“…Purpose We wanted to explore the specific proprioceptive effect of cervical pain on sensorimotor control. Sensorimotor control comprises proprioceptive…”
Get full text

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

“…Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we…”
Get full text

Functional Head Impulse Testing Might Be Useful for Assessing Vestibular Compensation After Unilateral Vestibular Loss by Sjögren, Julia, Fransson, Per-Anders, Karlberg, Mikael, Magnusson, Måns, Tjernström, Fredrik

“…Loss of the vestibulo-ocular reflex (VOR) affects visual acuity during head movements. Previous studies have shown that compensatory eye-saccades improve…”
Get full text

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism by Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna

“…Massively parallel DNA sequencing (MPS) has the potential to revolutionize diagnostics, in particular for monogenic disorders. Inborn errors of metabolism…”
Get full text

MultiQC: summarize analysis results for multiple tools and samples in a single report by Ewels, Philip, Magnusson, Måns, Lundin, Sverker, Käller, Max

“…Fast and accurate quality control is essential for studies involving next-generation sequencing data. Whilst numerous tools exist to quantify QC metrics, there…”
Get full text

Hearing impairment after platinum-based chemotherapy in childhood by Einar-Jon, Einarsson, Trausti, Oskarsson, Asgeir, Haraldsson, Christian, Moëll, Thomas, Wiebe, Måns, Magnusson, Jon, Kristinsson, Hannes, Petersen

“…Background Chemotherapy is used in the treatment of children and adolescents with malignant diseases. Some of the chemotherapeutic agents are highly toxic and…”
Get full text

Multivariate Analysis of Orthogonal Range Searching and Graph Distances by Bringmann, Karl, Husfeldt, Thore, Magnusson, Måns

“…We show that the eccentricities, diameter, radius, and Wiener index of an undirected n -vertex graph with nonnegative edge lengths can be computed in time O (…”
Get full text

Diagnostic criteria for Menière's disease by Lopez-Escamez, Jose A, Carey, John, Chung, Won-Ho, Goebel, Joel A, Magnusson, Måns, Mandalà, Marco, Newman-Toker, David E, Strupp, Michael, Suzuki, Mamoru, Trabalzini, Franco, Bisdorff, Alexandre

“…This paper presents diagnostic criteria for Menière's disease jointly formulated by the Classification Committee of the Bárány Society, The Japan Society for…”
Get more information

Acute unilateral vestibulopathy/vestibular neuritis: Diagnostic criteria by Strupp, Michael, Bisdorff, Alexandre, Furman, Joseph, Hornibrook, Jeremy, Jahn, Klaus, Maire, Raphael, Newman-Toker, David, Magnusson, Måns

“…This paper describes the diagnostic criteria for Acute Unilateral Vestibulopathy (AUVP), a synonym for vestibular neuritis, as defined by the Committee for the…”
Get more information

Acute Unilateral Vestibulopathy by Strupp, Michael, MD, FANA, FEAN, Magnusson, Mans, MD

“…Normal vestibular end organs generate an equal resting-firing frequency of the axons, which is the same on both sides under static conditions. An acute…”
Get full text

Pólya Urn Latent Dirichlet Allocation: A Doubly Sparse Massively Parallel Sampler by Terenin, Alexander, Magnusson, Mans, Jonsson, Leif, Draper, David

“…Latent Dirichlet Allocation (LDA) is a topic model widely used in natural language processing and machine learning. Most approaches to training the model rely…”
Get full text

Video exposure through virtual reality can improve older people's ability to manage postural instability caused by distortive visual environments by Älmqvist Nae, Jenny, Nyström, Anastasia, Luccini, Francesca, Magnusson, Måns, Ekvall Hansson, Eva

“…In older adults, age-related degenerative processes and disorders often degrade some sensory systems more than others, which can make postural control…”
Get full text

Unbiased estimator for the variance of the leave-one-out cross-validation estimator for a Bayesian normal model with fixed variance by Sivula, Tuomas, Magnusson, Måns, Vehtari, Aki

“…When evaluating and comparing models using leave-one-out cross-validation (LOO-CV), the uncertainty of the estimate is typically assessed using the variance of…”
Get full text

Postural instability in an immersive Virtual Reality adapts with repetition and includes directional and gender specific effects by Fransson, Per-Anders, Patel, Mitesh, Jensen, Hanna, Lundberg, Michèle, Tjernström, Fredrik, Magnusson, Måns, Ekvall Hansson, Eva

“…The ability to handle sensory conflicts and use the most appropriate sensory information is vital for successful recovery of human postural control after…”
Get full text

Strategic alterations of posture are delayed in Parkinson’s disease patients during deep brain stimulation by Patel, Mitesh, Nilsson, Maria H., Rehncrona, Stig, Tjernström, Fredrik, Magnusson, Måns, Johansson, Rolf, Fransson, Per-Anders

“…Parkinson’s disease (PD) is characterized by rigidity, akinesia, postural instability and tremor. Deep brain stimulation (DBS) of the subthalamic nucleus (STN)…”
Get full text

Steroids for Acute Vestibular Neuronitis—the Earlier the Treatment, the Better the Outcome? by Sjögren, Julia, Magnusson, Måns, Tjernström, Fredrik, Karlberg, Mikael

“…OBJECTIVE:To present findings that suggest steroid treatment within 24 hours of onset of vestibular neuronitis results in better restitution of vestibular…”
Get full text

Vision-Based Tracking of Surgical Motion During Live Open-Heart Surgery by Stenmark, Maj, Omerbašić, Edin, Magnusson, Måns, Andersson, Viktor, Abrahamsson, Martin, Tran, Phan-Kiet

“…Motion tracking during live surgeries may be used to assess surgeons’ intra-operative performance, provide feedback, and predict outcome. Current assessment…”
Get full text

Seeded Topic Models in Digital Archives: Analyzing Interpretations of Immigration in Swedish Newspapers, 1945-2019 by Hurtado Bodell, Miriam, Magnusson, Måns, Keuschnigg, Marc

“…Sociologists are discussing the need for more formal ways to extract meaning from digital text archives. We focus attention on the seeded topic model, a…”
Get full text