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by Ito, Yoko and Carss, Keren J and Duarte, Sofia T and Hartley, Taila and Keren, Boris and Kurian, Manju A and Marey, Isabelle and Charles, Perinne and Mendonça, Carla and Nava, Caroline and Pfundt, Rolph and Sanchis-Juan, Alba and van Bokhoven, Hans and van Essen, Anthony and van Ravenswaaij-Arts, Conny and Aitman, Timothy and Bennett, David and Caulfield, Mark and Chinnery, Patrick and Gale, Daniel and Koziell, Ania and Kuijpers, Taco W and Laffan, Michael A and Maher, Eamonn and Markus, Hugh S and Morrell, Nicholas W and Ouwehand, Willem H and Perry, David J and Raymond, F. Lucy and Roberts, Irene and Smith, Kenneth G.C and Thrasher, Adrian and Watkins, Hugh and Williamson, Catherine and Woods, Geoffrey and Ashford, Sofie and Bradley, John R and Fletcher, Debra and Hammerton, Tracey and James, Roger and Kingston, Nathalie and Penkett, Christopher J and Stirrups, Kathleen and Veltman, Marijke and Young, Tim and Brown, Matthew and Clements-Brod, Naomi and Davis, John and Dewhurst, Eleanor and Dolling, Helen and Erwood, Marie and Frary, Amy and Linger, Rachel and Martin, Jennifer M and Papadia, Sofia and Rehnstrom, Karola and Stark, Hannah and Allsup, David and Austin, Steve and Bakchoul, Tamam and Bariana, Tadbir K and Bolton-Maggs, Paula and Chalmers, Elizabeth and Collins, Janine and Collins, Peter and Erber, Wendy N and Everington, Tamara and Favier, Remi and Freson, Kathleen and Furie, Bruce and Gattens, Michael and Gebhart, Johanna and Gomez, Keith and Greene, Daniel and Greinacher, Andreas and Gresele, Paolo and Hart, Daniel and Heemskerk, Johan W.M and Henskens, Yvonne and Kazmi, Rashid and Keeling, David and Kelly, Anne M and Lambert, Michele P and Lentaigne, Claire and Liesner, Ri and Makris, Mike and Mangles, Sarah and Mathias, Mary and Millar, Carolyn M and Mumford, Andrew and Nurden, Paquita and Payne, Jeanette and Pasi, John and Peerlinck, Kathelijne and Revel-Vilk, Shoshana and Richards, Michael and Rondina, Matthew and Roughley, Catherine and Schulman, Sol and Schulze, Harald and ... and Care4Rare Canada Consortium and NIHR BioResource
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 144 - 153
Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here,... 
actin cytoskeleton | recurrent de novo truncating mutations | neurodevelopmental disorder | lamellipodia | seizures | developmental delay | WASF1 | autism | WAVE1 complex | WAVE | COMPLEX | PROTEIN | GENES | GENETICS & HEREDITY | DISORDERS | EXCHANGE | PLASTICITY | Physiological aspects | Genetic aspects | Research | Gene mutations | Mental retardation | Risk factors | Report
Journal Article
ISSN 0002-9297, 2018
Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here,... 
actin cytoskeleton | recurrent de novo truncating mutations | neurodevelopmental disorder | lamellipodia | seizures | developmental delay | WASF1 | autism | WAVE1 complex
Journal Article
by Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Posey, Jennifer E and Westerfield, Monte and Postlethwait, John and Hieter, Philip and Boycott, Kym M and Campeau, Philippe M and Bellen, Hugo J and Adams, David R and Hanchard, Neil A and Papp, Jeanette C and Alejandro, Mercedes E and Handley, Lori H and Parker, Neil H and Allard, Patrick and Herzog, Matthew R and Pena, Loren D. M and Ashley, Euan A and Holm, Ingrid A and Phillips, John A and Azamian, Mahshid S and Howerton, Ellen M and Bacino, Carlos A and Jacob, Howard J and Postlethwait, John H and Balasubramanyam, Ashok and Jain, Mahim and Potocki, Lorraine and Barseghyan, Hayk and Jiang, Yong-Hui and Pusey, Barbara N and Beggs, Alan H and Johnston, Jean M and Ramoni, Rachel B and Jones, Angela L and Robertson, Amy K and Bernstein, Jonathan A and Koeller, David M and Rodan, Lance H and Bican, Anna and Kohane, Isaac S and Rosenfeld, Jill A and Bick, David P and Kohler, Jennefer N and Samson, Susan L and Birch, Camille L and Krasnewich, Donna M and Schoch, Kelly and Boone, Braden E and Krieg, Elizabeth L and Schroeder, Molly C and Bostwick, Bret L and Krier, Joel B and Scott, Daryl A and Briere, Lauren C and Kyle, Jennifer E and Sharma, Prashant and Brown, Donna M and Lalani, Seema R and Shashi, Vandana and Brush, Matthew and Lau, C. Christopher and Silverman, Edwin K and Burke, Elizabeth A and Lazar, Jozef and Sinsheimer, Janet S and Burrage, Lindsay C and Lee, Brendan H and Soldatos, Ariane G and Chen, Shan and Lee, Hane and Spillmann, Rebecca C and Clark, Gary D and Levy, Shawn E and Splinter, Kimberly and Cogan, Joy D and Lewis, Richard A and Stoler, Joan M and Cooper, Cynthia M and Lincoln, Sharyn A and Stong, Nicholas and Craigen, William J and Lipson, Allen and Strong, Kimberly A and Davids, Mariska and Loo, Sandra K and Sullivan, Jennifer A and Dayal, Jyoti G and Loscalzo, Joseph and Sweetser, David A and Dell'Angelica, Esteban C and Maas, Richard L and Tifft, Cynthia J and Dhar, Shweta U and Macnamara, Ellen F and Toro, Camilo and Dillon, Ani and MacRae, Calum A and ... and UDN and Members of the Undiagnosed Diseases Network (UDN)
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
Journal of Neurology, ISSN 0340-5354, 8/2019, Volume 266, Issue 8, pp. 1919 - 1926
Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due... 
Multi-gene panel | Neurology | Neurosciences | Next-generation sequencing | Medicine & Public Health | Genetic testing | Neuroradiology | Neurological disorders | PANEL | DE-NOVO MUTATIONS | VARIANTS | RECURRENT | SENSITIVITY | UTILITY | CLINICAL NEUROLOGY | Neurological diseases | Phenotypes | Leukodystrophy | Ataxia | Genetic diversity | Diagnosis | Mutation | Dystrophy | Muscular dystrophy
Journal Article
Journal of molecular psychiatry, ISSN 2049-9256, 2016, Volume 4, Issue 1, p. 1
A spontaneous de novo mutation is a new mutation appeared in a child that neither the parent carries. Recent studies suggest that recurrent de novo... 
Proteins | Autism | Gene mutations | Analysis | DNA | Development and progression | Genetic aspects | DNA-ligand interactions | Protein binding
Journal Article
Science China Life Sciences, ISSN 1674-7305, 2019, Volume 62, Issue 7, pp. 886 - 894
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2011, Volume 7, Issue 11, p. e1002334
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2018, Volume 21, Issue 3, pp. 1 - 8
Purpose: SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three... 
Recurrent pathogenic variant | Intellectual disability | SMARCB1 | Hydrocephalus | Choroid plexus hyperplasia | SCHWANNOMATOSIS | GERMLINE MUTATION | TUMOR | INI1 | COFFIN-SIRIS SYNDROME | GENE | GENETICS & HEREDITY | HSNF5/INI1 | NF2 | GENOTYPE-PHENOTYPE
Journal Article