TY - JOUR AU - Kolevzon, A. AU - Angarita, B. AU - Bush, L. AU - Wang, A. T. AU - Frank, Y. AU - Yang, A. PY - 2014 DA - 2014// TI - Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring JO - J Neurodev Disord VL - 6 UR - https://doi.org/10.1186/1866-1955-6-39 DO - 10.1186/1866-1955-6-39 ID - Kolevzon2014 ER - TY - JOUR AU - Soorya, L. AU - Kolevzon, A. AU - Zweifach, J. AU - Lim, T. AU - Dobry, Y. AU - Schwartz, L. PY - 2013 DA - 2013// TI - Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency JO - Mol Autism VL - 4 UR - https://doi.org/10.1186/2040-2392-4-18 DO - 10.1186/2040-2392-4-18 ID - Soorya2013 ER - TY - JOUR AU - Bonaglia, M. C. AU - Giorda, R. AU - Beri, S. AU - De Agostini, C. AU - Novara, F. AU - Fichera, M. PY - 2011 DA - 2011// TI - Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome JO - PLoS Genet VL - 7 UR - https://doi.org/10.1371/journal.pgen.1002173 DO - 10.1371/journal.pgen.1002173 ID - Bonaglia2011 ER - TY - JOUR AU - Sarasua, S. M. AU - Boccuto, L. AU - Sharp, J. L. AU - Dwivedi, A. AU - Chen, C. F. AU - Rollins, J. D. PY - 2014 DA - 2014// TI - Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome JO - Hum Genet VL - 133 UR - https://doi.org/10.1007/s00439-014-1423-7 DO - 10.1007/s00439-014-1423-7 ID - Sarasua2014 ER - TY - JOUR AU - Luciani, J. J. AU - de Mas, P. AU - Depetris, D. AU - Mignon-Ravix, C. AU - Bottani, A. AU - Prieur, M. PY - 2003 DA - 2003// TI - Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations JO - J Med Genet VL - 40 UR - https://doi.org/10.1136/jmg.40.9.690 DO - 10.1136/jmg.40.9.690 ID - Luciani2003 ER - TY - JOUR AU - Wilson, H. L. AU - Wong, A. C. AU - Shaw, S. R. AU - Tse, W. Y. AU - Stapleton, G. A. AU - Phelan, M. C. PY - 2003 DA - 2003// TI - Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms JO - J Med Genet VL - 40 UR - https://doi.org/10.1136/jmg.40.8.575 DO - 10.1136/jmg.40.8.575 ID - Wilson2003 ER - TY - JOUR AU - Sarasua, S. M. AU - Dwivedi, A. AU - Boccuto, L. AU - Rollins, J. D. AU - Chen, C. F. AU - Rogers, R. C. PY - 2011 DA - 2011// TI - Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome) JO - J Med Genet VL - 48 UR - https://doi.org/10.1136/jmedgenet-2011-100225 DO - 10.1136/jmedgenet-2011-100225 ID - Sarasua2011 ER - TY - JOUR AU - Zwanenburg, R. J. AU - Ruiter, S. A. AU - van den Heuvel, E. R. AU - Flapper, B. C. AU - Van Ravenswaaij-Arts, C. M. PY - 2016 DA - 2016// TI - Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children JO - J Neurodev Disord VL - 8 UR - https://doi.org/10.1186/s11689-016-9150-0 DO - 10.1186/s11689-016-9150-0 ID - Zwanenburg2016 ER - TY - JOUR AU - Durand, C. M. AU - Betancur, C. AU - Boeckers, T. M. AU - Bockmann, J. AU - Chaste, P. AU - Fauchereau, F. PY - 2007 DA - 2007// TI - Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders JO - Nat Genet VL - 39 UR - https://doi.org/10.1038/ng1933 DO - 10.1038/ng1933 ID - Durand2007 ER - TY - JOUR AU - Moessner, R. AU - Marshall, C. R. AU - Sutcliffe, J. S. AU - Skaug, J. AU - Pinto, D. AU - Vincent, J. PY - 2007 DA - 2007// TI - Contribution of SHANK3 mutations to autism spectrum disorder JO - Am J Hum Genet VL - 81 UR - https://doi.org/10.1086/522590 DO - 10.1086/522590 ID - Moessner2007 ER - TY - JOUR AU - Gauthier, J. AU - Spiegelman, D. AU - Piton, A. AU - Lafreniere, R. G. AU - Laurent, S. AU - St-Onge, J. PY - 2009 DA - 2009// TI - Novel de novo SHANK3 mutation in autistic patients JO - Am J Med Genet B Neuropsychiatr Genet VL - 150B UR - https://doi.org/10.1002/ajmg.b.30822 DO - 10.1002/ajmg.b.30822 ID - Gauthier2009 ER - TY - JOUR AU - Boccuto, L. AU - Lauri, M. AU - Sarasua, S. M. AU - Skinner, C. D. AU - Buccella, D. AU - Dwivedi, A. PY - 2013 DA - 2013// TI - Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders JO - Eur J Hum Genet VL - 21 UR - https://doi.org/10.1038/ejhg.2012.175 DO - 10.1038/ejhg.2012.175 ID - Boccuto2013 ER - TY - JOUR AU - Leblond, C. S. AU - Nava, C. AU - Polge, A. AU - Gauthier, J. AU - Huguet, G. AU - Lumbroso, S. PY - 2014 DA - 2014// TI - Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments JO - PLoS Genet VL - 10 UR - https://doi.org/10.1371/journal.pgen.1004580 DO - 10.1371/journal.pgen.1004580 ID - Leblond2014 ER - TY - JOUR AU - De Rubeis, S. AU - He, X. AU - Goldberg, A. P. AU - Poultney, C. S. AU - Samocha, K. AU - Cicek, A. E. PY - 2014 DA - 2014// TI - Synaptic, transcriptional and chromatin genes disrupted in autism JO - Nature VL - 515 UR - https://doi.org/10.1038/nature13772 DO - 10.1038/nature13772 ID - De Rubeis2014 ER - TY - JOUR AU - O'Roak, B. J. AU - Stessman, H. A. AU - Boyle, E. A. AU - Witherspoon, K. T. AU - Martin, B. AU - Lee, C. PY - 2014 DA - 2014// TI - Recurrent de novo mutations implicate novel genes underlying simplex autism risk JO - Nat Commun VL - 5 UR - https://doi.org/10.1038/ncomms6595 DO - 10.1038/ncomms6595 ID - O'Roak2014 ER - TY - STD TI - Yuen RK, Merico D, Bookman M, Howe JL. Thiruvahindrapuram B, Patel RV, et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017;20:602–11. ID - ref16 ER - TY - JOUR AU - Hamdan, F. F. AU - Gauthier, J. AU - Araki, Y. AU - Lin, D. T. AU - Yoshizawa, Y. AU - Higashi, K. PY - 2011 DA - 2011// TI - Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability JO - Am J Hum Genet VL - 88 UR - https://doi.org/10.1016/j.ajhg.2011.02.001 DO - 10.1016/j.ajhg.2011.02.001 ID - Hamdan2011 ER - TY - JOUR AU - Gong, X. AU - Jiang, Y. W. AU - Zhang, X. AU - An, Y. AU - Zhang, J. AU - Wu, Y. PY - 2012 DA - 2012// TI - High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability JO - PLoS One VL - 7 UR - https://doi.org/10.1371/journal.pone.0034739 DO - 10.1371/journal.pone.0034739 ID - Gong2012 ER - TY - JOUR AU - Redin, C. AU - Gerard, B. AU - Lauer, J. AU - Herenger, Y. AU - Muller, J. AU - Quartier, A. PY - 2014 DA - 2014// TI - Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing JO - J Med Genet VL - 51 UR - https://doi.org/10.1136/jmedgenet-2014-102554 DO - 10.1136/jmedgenet-2014-102554 ID - Redin2014 ER - TY - JOUR AU - Lelieveld, S. H. AU - Reijnders, M. R. AU - Pfundt, R. AU - Yntema, H. G. AU - Kamsteeg, E. J. AU - de Vries, P. PY - 2016 DA - 2016// TI - Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability JO - Nat Neurosci VL - 19 UR - https://doi.org/10.1038/nn.4352 DO - 10.1038/nn.4352 ID - Lelieveld2016 ER - TY - JOUR PY - 2017 DA - 2017// TI - Prevalence and architecture of de novo mutations in developmental disorders JO - Nature VL - 542 UR - https://doi.org/10.1038/nature21062 DO - 10.1038/nature21062 ID - ref21 ER - TY - JOUR AU - Gauthier, J. AU - Champagne, N. AU - Lafreniere, R. G. AU - Xiong, L. AU - Spiegelman, D. AU - Brustein, E. PY - 2010 DA - 2010// TI - De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia JO - Proc Natl Acad Sci U S A VL - 107 UR - https://doi.org/10.1073/pnas.0906232107 DO - 10.1073/pnas.0906232107 ID - Gauthier2010 ER - TY - JOUR AU - Betancur, C. AU - Buxbaum, J. D. PY - 2013 DA - 2013// TI - SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders JO - Mol Autism VL - 4 UR - https://doi.org/10.1186/2040-2392-4-17 DO - 10.1186/2040-2392-4-17 ID - Betancur2013 ER - TY - JOUR AU - Holder, J. L. AU - Quach, M. M. PY - 2016 DA - 2016// TI - The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations JO - Epilepsia VL - 57 UR - https://doi.org/10.1111/epi.13506 DO - 10.1111/epi.13506 ID - Holder2016 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Cochoy, D. M. AU - Kolevzon, A. AU - Kajiwara, Y. AU - Schoen, M. AU - Pascual-Lucas, M. AU - Lurie, S. PY - 2015 DA - 2015// TI - Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID JO - Mol Autism VL - 6 UR - https://doi.org/10.1186/s13229-015-0020-5 DO - 10.1186/s13229-015-0020-5 ID - Cochoy2015 ER - TY - BOOK AU - Lord, C. AU - Rutter, M. AU - DiLavore, P. S. AU - Risi, S. AU - Gotham, K. AU - Bishop, D. PY - 2012 DA - 2012// TI - Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) manual (part I): modules 1–4 PB - Western Psychological Services CY - Torrance ID - Lord2012 ER - TY - JOUR AU - Lord, C. AU - Rutter, M. AU - Le Couteur, A. PY - 1994 DA - 1994// TI - Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders JO - J Autism Dev Disord VL - 24 UR - https://doi.org/10.1007/BF02172145 DO - 10.1007/BF02172145 ID - Lord1994 ER - TY - BOOK PY - 2013 DA - 2013// TI - Diagnostic and Statistical Manual of Mental Disorders, 5th edition, text revision PB - American Psychiatric Association CY - Washington, DC UR - https://doi.org/10.1176/appi.books.9780890425596 DO - 10.1176/appi.books.9780890425596 ID - ref29 ER - TY - JOUR AU - Hus, V. AU - Gotham, K. AU - Lord, C. PY - 2014 DA - 2014// TI - Standardizing ADOS domain scores: separating severity of social affect and restricted and repetitive behaviors JO - J Autism Dev Disord VL - 44 UR - https://doi.org/10.1007/s10803-012-1719-1 DO - 10.1007/s10803-012-1719-1 ID - Hus2014 ER - TY - BOOK AU - Mullen, E. M. PY - 1995 DA - 1995// TI - Mullen Scales of Early Learning PB - American Guidance Services CY - Circle Pines ID - Mullen1995 ER - TY - BOOK AU - Roid, G. H. PY - 2003 DA - 2003// TI - Stanford Binet Intelligence Scales PB - Riverside Publishing CY - Itasca ID - Roid2003 ER - TY - BOOK AU - Elliot, C. D. PY - 2007 DA - 2007// TI - Differential Ability Scales—second edition: introductory and technical manual PB - Harcourt Assessment CY - San Antonio ID - Elliot2007 ER - TY - JOUR AU - Bishop, S. L. AU - Guthrie, W. AU - Coffing, M. AU - Lord, C. PY - 2011 DA - 2011// TI - Convergent validity of the Mullen Scales of Early Learning and the Differential Ability Scales in children with autism spectrum disorders JO - Am J Intellect Dev Disabil VL - 116 UR - https://doi.org/10.1352/1944-7558-116.5.331 DO - 10.1352/1944-7558-116.5.331 ID - Bishop2011 ER - TY - JOUR AU - Akshoomoff, N. PY - 2006 DA - 2006// TI - Use of the Mullen Scales of Early Learning for the assessment of young children with autism spectrum disorders JO - Child Neuropsychol VL - 12 UR - https://doi.org/10.1080/09297040500473714 DO - 10.1080/09297040500473714 ID - Akshoomoff2006 ER - TY - BOOK AU - Sparrow, S. S. AU - Cicchetti, D. V. AU - Balla, D. A. PY - 2005 DA - 2005// TI - Vineland Adaptive Behavior Scales: second edition (Vineland II), survey interview form/caregiver rating form PB - Pearson Assessments CY - Livonia ID - Sparrow2005 ER - TY - BOOK AU - Fenson, L. AU - Marchman, V. A. AU - Thal, D. J. AU - Dale, P. S. AU - Reznick, J. S. AU - Bates, E. PY - 2007 DA - 2007// TI - MacArthur-Bates communicative development inventories: user’s guide and technical manual PB - Brookes Publishing Co. CY - Baltimore ID - Fenson2007 ER - TY - BOOK AU - Dunn, L. M. AU - Dunn, D. M. PY - 2007 DA - 2007// TI - PPVT-4: Peabody Picture Vocabulary Test PB - Pearson Assessments CY - Bloomington ID - Dunn2007 ER - TY - BOOK AU - Williams, K. T. PY - 2007 DA - 2007// TI - The Expressive Vocabulary Test PB - AGS Publishing CY - Circle Pines ID - Williams2007 ER - TY - BOOK AU - Beery, K. E. AU - Buktenica, N. A. AU - Beery, N. A. PY - 2010 DA - 2010// TI - Beery-Buktenica Developmental Test of Visual-Motor Integration PB - Pearson CY - Minneapolis ID - Beery2010 ER - TY - JOUR AU - Dunn, W. AU - Westman, K. PY - 1997 DA - 1997// TI - The sensory profile: the performance of a national sample of children without disabilities JO - Am J Occup Ther VL - 51 UR - https://doi.org/10.5014/ajot.51.1.25 DO - 10.5014/ajot.51.1.25 ID - Dunn1997 ER - TY - JOUR AU - Siper, P. M. AU - Kolevzon, A. AU - Wang, A. T. AU - Buxbaum, J. D. AU - Tavassoli, T. PY - 2017 DA - 2017// TI - A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD JO - Autism Res VL - 10 UR - https://doi.org/10.1002/aur.1750 DO - 10.1002/aur.1750 ID - Siper2017 ER - TY - JOUR AU - Nemirovsky, S. I. AU - Cordoba, M. AU - Zaiat, J. J. AU - Completa, S. P. AU - Vega, P. A. AU - Gonzalez-Moron, D. PY - 2015 DA - 2015// TI - Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder JO - PLoS One VL - 10 UR - https://doi.org/10.1371/journal.pone.0116358 DO - 10.1371/journal.pone.0116358 ID - Nemirovsky2015 ER - TY - JOUR AU - Lim, E. T. AU - Uddin, M. AU - De Rubeis, S. AU - Chan, Y. AU - Kamumbu, A. S. AU - Zhang, X. PY - 2017 DA - 2017// TI - Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder JO - Nat Neurosci VL - 20 UR - https://doi.org/10.1038/nn.4598 DO - 10.1038/nn.4598 ID - Lim2017 ER - TY - JOUR AU - Zhang, Y. AU - Kong, W. AU - Gao, Y. AU - Liu, X. AU - Gao, K. AU - Xie, H. PY - 2015 DA - 2015// TI - Gene mutation analysis in 253 Chinese children with unexplained epilepsy and intellectual/developmental disabilities JO - PLoS One VL - 10 UR - https://doi.org/10.1371/journal.pone.0141782 DO - 10.1371/journal.pone.0141782 ID - Zhang2015 ER - TY - JOUR AU - Bowling, K. M. AU - Thompson, M. L. AU - Amaral, M. D. AU - Finnila, C. R. AU - Hiatt, S. M. AU - Engel, K. L. PY - 2017 DA - 2017// TI - Genomic diagnosis for children with intellectual disability and/or developmental delay JO - Genome Med VL - 9 UR - https://doi.org/10.1186/s13073-017-0433-1 DO - 10.1186/s13073-017-0433-1 ID - Bowling2017 ER - TY - JOUR AU - Samocha, K. E. AU - Robinson, E. B. AU - Sanders, S. J. AU - Stevens, C. AU - Sabo, A. AU - McGrath, L. M. PY - 2014 DA - 2014// TI - A framework for the interpretation of de novo mutation in human disease JO - Nat Genet VL - 46 UR - https://doi.org/10.1038/ng.3050 DO - 10.1038/ng.3050 ID - Samocha2014 ER - TY - JOUR AU - Bramswig, N. C. AU - Ludecke, H. J. AU - Alanay, Y. AU - Albrecht, B. AU - Barthelmie, A. AU - Boduroglu, K. PY - 2015 DA - 2015// TI - Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes JO - Hum Genet VL - 134 UR - https://doi.org/10.1007/s00439-015-1535-8 DO - 10.1007/s00439-015-1535-8 ID - Bramswig2015 ER - TY - JOUR AU - Kolevzon, A. AU - Cai, G. AU - Soorya, L. AU - Takahashi, N. AU - Grodberg, D. AU - Kajiwara, Y. PY - 2011 DA - 2011// TI - Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities JO - Brain Res VL - 1380 UR - https://doi.org/10.1016/j.brainres.2010.11.005 DO - 10.1016/j.brainres.2010.11.005 ID - Kolevzon2011 ER - TY - JOUR AU - Waga, C. AU - Okamoto, N. AU - Ondo, Y. AU - Fukumura-Kato, R. AU - Goto, Y. AU - Kohsaka, S. PY - 2011 DA - 2011// TI - Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development JO - Psychiatr Genet VL - 21 UR - https://doi.org/10.1097/YPG.0b013e328341e069 DO - 10.1097/YPG.0b013e328341e069 ID - Waga2011 ER - TY - JOUR AU - Denayer, A. AU - Van Esch, H. AU - de Ravel, T. AU - Frijns, J. P. AU - Van Buggenhout, G. AU - Vogels, A. PY - 2012 DA - 2012// TI - Neuropsychopathology in 7 patients with the 22q13 deletion syndrome: presence of bipolar disorder and progressive loss of skills JO - Mol Syndromol VL - 3 ID - Denayer2012 ER - TY - JOUR AU - Jeffries, A. R. AU - Curran, S. AU - Elmslie, F. AU - Sharma, A. AU - Wenger, S. AU - Hummel, M. PY - 2005 DA - 2005// TI - Molecular and phenotypic characterization of ring chromosome 22 JO - Am J Med Genet A VL - 137 UR - https://doi.org/10.1002/ajmg.a.30780 DO - 10.1002/ajmg.a.30780 ID - Jeffries2005 ER - TY - JOUR AU - Durand, C. M. AU - Perroy, J. AU - Loll, F. AU - Perrais, D. AU - Fagni, L. AU - Bourgeron, T. PY - 2012 DA - 2012// TI - SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism JO - Mol Psychiatry VL - 17 UR - https://doi.org/10.1038/mp.2011.57 DO - 10.1038/mp.2011.57 ID - Durand2012 ER - TY - JOUR AU - Arons, M. H. AU - Thynne, C. J. AU - Grabrucker, A. M. AU - Li, D. AU - Schoen, M. AU - Cheyne, J. E. PY - 2012 DA - 2012// TI - Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling JO - J Neurosci VL - 32 UR - https://doi.org/10.1523/JNEUROSCI.2215-12.2012 DO - 10.1523/JNEUROSCI.2215-12.2012 ID - Arons2012 ER - TY - JOUR AU - Vucurovic, K. AU - Landais, E. AU - Delahaigue, C. AU - Eutrope, J. AU - Schneider, A. AU - Leroy, C. PY - 2012 DA - 2012// TI - Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion JO - Eur J Med Genet VL - 55 UR - https://doi.org/10.1016/j.ejmg.2012.07.009 DO - 10.1016/j.ejmg.2012.07.009 ID - Vucurovic2012 ER - TY - JOUR AU - Serret, S. AU - Thummler, S. AU - Dor, E. AU - Vesperini, S. AU - Santos, A. AU - Askenazy, F. PY - 2015 DA - 2015// TI - Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports JO - BMC Psychiatry VL - 15 UR - https://doi.org/10.1186/s12888-015-0490-1 DO - 10.1186/s12888-015-0490-1 ID - Serret2015 ER - TY - JOUR AU - Egger, J. I. AU - Zwanenburg, R. J. AU - van Ravenswaaij-Arts, C. M. AU - Kleefstra, T. AU - Verhoeven, W. M. PY - 2016 DA - 2016// TI - Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy JO - Genes Brain Behav VL - 15 UR - https://doi.org/10.1111/gbb.12285 DO - 10.1111/gbb.12285 ID - Egger2016 ER - TY - JOUR AU - Reierson, G. AU - Bernstein, J. AU - Froehlich-Santino, W. AU - Urban, A. AU - Purmann, C. AU - Berquist, S. PY - 2017 DA - 2017// TI - Characterizing regression in Phelan McDermid syndrome (22q13 deletion syndrome) JO - J Psychiatr Res VL - 91 UR - https://doi.org/10.1016/j.jpsychires.2017.03.010 DO - 10.1016/j.jpsychires.2017.03.010 ID - Reierson2017 ER - TY - JOUR AU - Verhoeven, W. M. AU - Egger, J. I. AU - Willemsen, M. H. AU - de Leijer, G. J. AU - Kleefstra, T. PY - 2012 DA - 2012// TI - Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? JO - Neuropsychiatr Dis Treat VL - 8 UR - https://doi.org/10.2147/NDT.S30506 DO - 10.2147/NDT.S30506 ID - Verhoeven2012 ER - TY - JOUR AU - Han, Q. AU - Kim, Y. H. AU - Wang, X. AU - Liu, D. AU - Zhang, Z. J. AU - Bey, A. L. PY - 2016 DA - 2016// TI - SHANK3 deficiency impairs heat hyperalgesia and TRPV1 signaling in primary sensory neurons JO - Neuron VL - 92 UR - https://doi.org/10.1016/j.neuron.2016.11.007 DO - 10.1016/j.neuron.2016.11.007 ID - Han2016 ER - TY - JOUR AU - Wei, S. C. AU - Yang-Yen, H. F. AU - Tsao, P. N. AU - Weng, M. T. AU - Tung, C. C. AU - Yu, L. C. H. PY - 2017 DA - 2017// TI - SHANK3 regulates intestinal barrier function through modulating ZO-1 expression through the PKCε-dependent pathway JO - Inflamm Bowel Dis VL - 23 UR - https://doi.org/10.1097/MIB.0000000000001250 DO - 10.1097/MIB.0000000000001250 ID - Wei2017 ER - TY - JOUR AU - Brandt, T. AU - Desai, K. AU - Grodberg, D. AU - Mehta, L. AU - Cohen, N. AU - Tryfon, A. PY - 2012 DA - 2012// TI - Complex autism spectrum disorder in a patient with a 17q12 microduplication JO - Am J Med Genet A VL - 158A UR - https://doi.org/10.1002/ajmg.a.35267 DO - 10.1002/ajmg.a.35267 ID - Brandt2012 ER -