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SFARI-funded publications

Below is a list of publications generated with SFARI support. The list includes papers from SFARI-funded investigators as well as from independent investigators who used genetic data, phenotypic data or biospecimens from the Simons Simplex Collection (SSC) or Simons Variation in Individuals Project (Simons VIP).

Please remember to cite us in your publications.

Contact [email protected] if you notice omissions or have a new publication you’d like us to add.



Abrams D.A., Chen T., Odriozola P., Cheng K.M., Baker A.E., Padmanabhan A., Ryali S., Kochalka J., Feinstein C., Menon V. Neural circuits underlying mother's voice perception predict social communication abilities in children. Proc. Natl. Acad. Sci. USA. 113, 6295-6300 (2016) PubMed

Arbogast T., Ouagazzal A.M., Chevalier C., Kopanitsa M., Afinowi N., Migliavacca E., Cowling B.S., Birling M.C., Champy M.F., Reymond A., Herault Y. Reciprocal effects on neurocognitive and metabolic phenotypes in mouse models of 16p11.2 deletion and duplication syndromes. PLOS Genet. 12, e1005709 (2016) PubMed

Bain J.M., Cho M.T., Telegrafi A., Wilson A., Brooks S., Botti C., Gowans G., Autullo L.A., Krishnamurthy V., Willing M.C., Toler T.L., Ben-Zev B., Elpeleg O., Shen Y., Retterer K., Monaghan K.G., Chung W.K. Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females. Am. J. Hum. Genet. 99, 728-734(2016) PubMed

Barak B. and G. Feng Neurobiology of social behavior abnormalities in autism and Williams syndrome. Nat. Neurosci. 19, 647-655 (2016) PubMed

Bariselli S., Tzanoulinou S., Glangetas C., Prévost-Solié C., Pucci L., Viguié J., Bezzi P., O'Connor E.C., Georges F., Lüscher C., Bellone C. SHANK3 controls maturation of social reward circuits in the VTA. Nat. Neurosci. 19, 926-934 (2016) PubMed

Belinson H., Nakatani J., Babineau B.A., Birnbaum R.Y., Ellegood J., Bershteyn M., McEvilly R.J., Long J.M., Willert K., Klein O.D., Ahituv N., Lerch J.P., Rosenfeld M.G., Wynshaw-Boris A. Prenatal beta-catenin/BRN2/TBR2 transcriptional cascade regulates adult social and stereotypic behaviors. Mol. Psychiatry. 21, 1417-1433 (2016) PubMed

Berrios J., Stamatakis A.M., Kantak P.A., McElligott Z.A., Judson M.C., Aita M., Rougie M., Stuber G.D., Philpot B.D. Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation. Nat. Commun. 7, 10702 (2016) PubMed

Bowling H., Bhattacharya A., Zhang G., Lebowitz J.Z., Alam D., Smith P.T., Kirshenbaum K., Neubert T.A., Vogel C., Chao M.V., Klann E. BONLAC: A combinatorial proteomic technique to measure stimulus-induced translational profiles in brain slices. Neuropharmacology 100, 76-89 (2016) PubMed

Brandler W.M., Antaki D., Gujral M., Noor A., Rosanio G., Chapman T.R., Barrera D.J., Lin G.N., Malhotra D., Watts A.C., Wong L.C., Estabillo J.A., Gadomski T.E., Hong O., Fajardo K.V., Bhandari A., Owen R., Baughn M., Yuan J., Solomon T., Moyzis A.G., Maile M.S., Sanders S.J., Reiner G.E., Vaux K.K., Strom C.M., Zhang K., Muotri A.R., Akshoomoff N., Leal S.M., Pierce K., Courchesne E., Iakoucheva L.M., Corsello C., Sebat J. Frequency and complexity of de novo structural mutation in autism. Am. J. Hum. Genet. 98, 667-679 (2016) PubMed

Breuss M.W., Sultan T., James K.N., Rosti R.O., Scott E., Musaev D., Furia B., Reis A., Sticht H., Al-Owain M., Alkuraya F.S., Reuter M.S., Abou Jamra R., Trotta C.R., Gleeson J.G. Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly. Am. J. Hum. Genet. 99, 228-235 (2016) PubMed

Brian J., Bryson S.E., Smith I.M., Roberts W., Roncadin C., Szatmari P., Zwaigenbaum L. Stability and change in autism spectrum disorder diagnosis from age 3 to middle childhood in a high-risk sibling cohort. Autism. 20, 888-892 (2016) PubMed

Burette A.C., Judson M.C., Burette S., Phend K.D., Philpot B.D., Weinberg R.J. Subcellular organization of UBE3A in neurons. J. Comp. Neurol. Epub ahead of print (2016) PubMed

Caubit X., Gubellini P., Andrieux J., Roubertoux P.L., Metwaly M., Jacq B., Fatmi A., Had-Aissouni L., Kwan K.Y., Salin P., Carlier M., Liedén A., Rudd E., Shinawi M., Vincent-Delorme C., Cuisset J.M., Lemaitre M.P., Abderrehamane F., Duban B., Lemaitre J.F., Woolf A.S., Bockenhauer D., Severac D., Dubois E., Zhu Y., Sestan N., Garratt A.N., Le Goff L.K., Fasano L. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nat. Genet. Epub ahead of print (2016) PubMed

Chang A.D., Berges V.A., Chung S.J., Fridman G.Y., Baraban J.M., Reti I.M. High frequency stimulation at the subthalamic nucleus suppresses excessive self-grooming in autism-like mouse models. Neuropsychopharmacology. 41, 1813-1821 (2016) PubMed

Charman T., Young G.S., Brian J., Carter A., Carver L.J., Chawarska K., Curtin S., Dobkins K., Elsabbagh M., Georgiades S., Hertz-Picciotto I., Hutman T., Iverson J.M., Jones E.J., Landa R., Macari S., Messinger D.S., Nelson C.A., Ozonoff S., Saulnier C., Stone W.L., Tager-Flusberg H., Webb S.J., Yirmiya N., Zwaigenbaum L. Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study. Autism Res. Epub ahead of print (2016) PubMed

Choi G.B., Yim Y.S., Wong H., Kim S., Kim H., Kim S.V., Hoeffer C.A., Littman D.R., Huh J.R. The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring. Science. 351, 933-939 (2016) PubMed

Dal Monte O., Piva M., Morris J.A., Chang S.W. Live interaction distinctively shapes social gaze dynamics in rhesus macaques. J. Neurophysiol. Epub ahead of print (2016) PubMed

De Niear M.A., Koo B., Wallace M.T. Multisensory perceptual learning is dependent upon task difficulty. Exp. Brain Res. Epub ahead of print (2016) PubMed

Ellis S.E., Panitch R., West A.B., Arking D.E. Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia. Transl. Psychiatry 6, e817 (2016) PubMed

Estes M.L. and A.K. McAllister Maternal immune activation: Implications for neuropsychiatric disorders. Science 353, 772-777 (2016) PubMed

Feldman D., Banerjee A., Sur M. Developmental dynamics of Rett syndrome. Neural Plast. 2016, 6154080 (2016) PubMed

Gandal M.J. and D.H. Geschwind The genetics-driven revival in neuropsychiatric drug development. Biol. Psychiatry 79, 628-630 (2016) PubMed

Ganesan S., Khan S., Garel K.A., Hämäläinen M.S., Kenet T. Normal evoked response to rapid sequences of tactile pulses in autism spectrum disorders. Front. Hum. Neurosci. 10, 433 (2016) PubMed

Gordon A., Salomon D., Barak N., Pen Y., Tsoory M., Kimchi T., Peles E. Expression of CNTNAP2 (CASPR2) in multiple levels of sensory systems. Mol. Cell Neurosci. 70, 42-53 (2016) PubMed

Haar S., Berman S., Behrmann M., Dinstein I. Anatomical abnormalities in autism? Cereb. Cortex. 26, 1440-1452 (2016) PubMed

Haigh S.M., Gupta A., Barb S.M., Glass S.A., Minshew N.J., Dinstein I., Heeger D.J., Eack S.M., Behrmann M. Differential sensory fMRI signatures in autism and schizophrenia: Analysis of amplitude and trial-to-trial variability. Schizophr. Res. 175, 12-19 (2016)

Haigh S.M., Heeger D.J., Heller L.M., Gupta A., Dinstein I., Minshew N.J., Behrmann M. No difference in cross-modal attention or sensory discrimination thresholds in autism and matched controls. Vision Res. 121, 85-94 (2016) PubMed

Halassa M.M. and L. Acsády Thalamic inhibition: Diverse sources, diverse scales. Trends Neurosci. 39, 680-693 (2016) PubMed

Hornstein N., Torres D., Das Sharma S., Tang G., Canoll P., Sims P.A. Ligation-free ribosome profiling of cell type-specific translation in the brain. Genome Biol. 17, 149 (2016) PubMed

Huang W.H., Guenthner C.J., Xu J., Nguyen T., Schwarz L.A., Wilkinson A.W., Gozani O., Chang H.Y., Shamloo M., Luo L. Molecular and neural functions of RAI1, the causal gene for Smith-Magenis syndrome. Neuron Epub ahead of print (2016) PubMed

Jiang M., Polepalli J., Chen L.Y., Zhang B., Südhof T.C., Malenka R.C. Conditional ablation of neuroligin-1 in CA1 pyramidal neurons blocks LTP by a cell-autonomous NMDA receptor-independent mechanism. Mol. Psychiatry Epub ahead of print (2016) PubMed

Jones K.A., Han J.E., DeBruyne J.P., Philpot B.D. Persistent neuronal UBE3A expression in the suprachiasmatic nucleus of Angelman syndrome model mice. Sci. Rep. 6, 28238 (2016) PubMed

Johansen A., Rosti R.O., Musaev D., Sticca E., Harripaul R., Zaki M., Caglayan A.O., Azam M., Sultan T., Froukh T., Reis A., Popp B., Ahmed I., John P., Ayub M., Ben-Omran T., Vincent J.B., Gleeson J.G., Abou Jamra R. Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features. Am. J. Hum. Genet. Epub ahead of print (2016) PubMed

Judson M.C., Wallace M.L., Sidorov M.S., Burette A.C., Gu B., van Woerden G.M., King I.F., Han J.E., Zylka M.J., Elgersma Y., Weinberg R.J., Philpot B.D. GABAergic neuron-specific loss of UBE3A causes Angelman syndrome-like EEG abnormalities and enhances seizure susceptibility. Neuron. 90, 56-69 (2016) PubMed

Kaiser T., Ting J.T., Monteiro P., Feng G. Transgenic labeling of parvalbumin-expressing neurons with tdTomato. Neuroscience. 321, 236-245 (2016) PubMed

Katz D.M., Bird A., Coenraads M., Gray S.J., Menon D.U., Philpot B.D., Tarquinio D.C. Rett syndrome: Crossing the threshold to clinical translation. Trends Neurosci. 39, 100-113 (2016) PubMed

Kaushik G. and K.S. Zarbalis Prenatal neurogenesis in autism spectrum disorders. Front. Chem. 4, 12 (2016) PubMed

Krencik R., van Asperen J.V., Ullian E.M. Human astrocytes are distinct contributors to the complexity of synaptic function. Brain Res. Bull. Epub ahead of print (2016) PubMed

Kim H., Kunz P.A., Mooney R., Philpot B.D., Smith S.L. Maternal loss of UBE3A impairs experience-driven dendritic spine maintenance in the developing visual cortex. J. Neurosci. 36, 4888-4894 (2016) PubMed

Krishnan A., Zhang R., Yao V., Theesfeld C.L., Wong A.K., Tadych A., Volfovsky N., Packer A., Lash A., Troyanskaya O.G. Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat. Neurosci. Epub ahead of print (2016) PubMed

Loviglio M.N., Leleu M., Männik K., Passeggeri M., Giannuzzi G., van der Werf I., Waszak S.M., Zazhytska M., Roberts-Caldeira I., Gheldof N., Migliavacca E., Alfaiz A.A., Hippolyte L., Maillard A.M., 2p15 Consortium, 16p11.2 Consortium, Van Dijck A., Kooy R.F., Sanlaville D., Rosenfeld J.A., Shaffer L.G., Andrieux J., Marshall C., Scherer S.W., Shen Y., Gusella J.F., Thorsteinsdottir U., Thorleifsson G., Dermitzakis E.T., Deplancke B., Beckmann J.S., Rougemont J., Jacquemont S., Reymond A. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol. Psychiatry Epub ahead of print (2016) PubMed

Lu H., Ash R.T., He L., Kee S.E., Wang W., Yu D., Hao S., Meng X., Ure K., Ito-Ishida A., Tang B., Sun Y., Ji D., Tang J., Arenkiel B.R., Smirnakis S.M., Zoghbi H.Y. Loss and gain of MeCP2 cause similar hippocampal circuit dysfunction that is rescued by deep brain stimulation in a Rett syndrome mouse model. Neuron 91, 739-747 (2016) PubMed

Luongo F.J., Horn M.E., Sohal V.S. Putative microcircuit-level substrates for attention are disrupted in mouse models of autism. Biol. Psychiatry. 79, 667-675 (2016) PubMed

Maher G.J., McGowan S.J., Giannoulatou E., Verrill C., Goriely A., Wilkie A.O. Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes. Proc. Natl. Acad. Sci. USA 113, 2454-2459 (2016) PubMed

Mei Y., Monteiro P., Zhou Y., Kim J.A., Gao X., Fu Z., Feng G. Adult restoration of SHANK3 expression rescues selective autistic-like phenotypes. Nature 530, 481-484 (2016) PubMed

Mercer A.A., Palarz K.J., Tabatadze N., Woolley C.S., Raman I.M. Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked GABRB3 mutations in mice. Elife 5 (2016) PubMed

Muffat J., Li Y., Yuan B., Mitalipova M., Omer A., Corcoran S., Bakiasi G., Tsai L.H., Aubourg P., Ransohoff R.M., Jaenisch R. Efficient derivation of microglia-like cells from human pluripotent stem cells. Nat. Med. Epub ahead of print (2016) PubMed

Mullins C., Fishell G., Tsien R.W. Unifying views of autism spectrum disorders: A consideration of autoregulatory feedback loops. Neuron 89, 1131-1156 (2016) PubMed

Murray M.M., Lewkowicz D.J., Amedi A., Wallace M.T. Multisensory processes: A balancing act across the lifespan. Trends Neurosci. 39, 567-579 (2016) PubMed

Noel J.P., De Niear M.A., Stevenson R., Alais D., Wallace M.T. Atypical rapid audio-visual temporal recalibration in autism spectrum disorders. Autism Res. Epub ahead of print (2016) PubMed

Orefice L.L., Zimmerman A.L., Chirila A.M., Sleboda S.J., Head J.P., Ginty D.D. Peripheral mechanosensory neuron dysfunction underlies tactile and behavioral deficits in mouse models of ASDs. Cell, 166, 299-313(2016) PubMed

Packer A. Neocortical neurogenesis and the etiology of autism spectrum disorder. Neurosci. Biobehav. Rev. 64, 185-195 (2016) PubMed

Park S.M., Littleton J.T., Park H.R., Lee J.H. Drosophila homolog of human KIF22 at the autism-linked 16p11.2 loci influences synaptic connectivity at larval neuromuscular junctions. Exp. Neurobiol. 25, 33-39 (2016) PubMed

Piochon C., Kano M., Hansel C. LTD-like molecular pathways in developmental synaptic pruning. Nat. Neurosci. 19, 1299-1310 (2016) PubMed

Resendez S.L., Jennings J.H., Ung R.L., Namboodiri V.M., Zhou Z.C., Otis J.M., Nomura H., McHenry J.A., Kosyk O., Stuber G.D. Visualization of cortical, subcortical and deep brain neural circuit dynamics during naturalistic mammalian behavior with head-mounted microscopes and chronically implanted lenses. Nat. Protoc. 11, 566-597 (2016) PubMed

Rooney G.E., Goodwin A.F., Depeille P., Sharir A., Schofield C.M., Yeh E., Roose J.P., Klein O.D., Rauen K.A., Weiss L.A., Ullian E.M. Human iPS cell-derived neurons uncover the impact of increased Ras signaling in Costello syndrome. J. Neurosci. 36, 142-152 (2016) PubMed

Schafer D.P., Heller C.T., Gunner G., Heller M., Gordon C., Hammond T., Wolf Y., Jung S., Stevens B. Microglia contribute to circuit defects in Mecp2 null mice independent of microglia-specific loss of Mecp2 expression. Elife 5, 15224 (2016) PubMed

Scott E.M., Halees A., Itan Y., Spencer E.G., He Y., Azab M.A., Gabriel S.B., Belkadi A., Boisson B., Abel L., Clark A.G., Greater Middle East Variome C., Alkuraya F.S., Casanova J.L., Gleeson J.G. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat. Genet. 48, 1071-1076 (2016) PubMed

Shang L., Henderson L.B., Cho M.T., Petrey D.S., Fong C.T., Haude K.M., Shur N., Lundberg J., Hauser N., Carmichael J., Innis J., Schuette J., Wu Y.W., Asaikar S., Pearson M., Folk L., Retterer K., Monaghan K.G., Chung W.K. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics 17, 43-49 (2016) PubMed

Sforazzini F., Bertero A., Dodero L., David G., Galbusera A., Scattoni M.L., Pasqualetti M., Gozzi A. Altered functional connectivity networks in acallosal and socially impaired BTBR mice. Brain Struct. Funct. 221, 942-954 (2016) PubMed

Silbereis J.C., Pochareddy S., Zhu Y., Li M., Sestan N. The cellular and molecular landscapes of the developing human central nervous system. Neuron 89, 248-268 (2016) PubMed

Simon D.M. and M.T. Wallace Dysfunction of sensory oscillations in autism spectrum disorder. Neurosci. Biobehav. Rev. 68, 848-861 (2016) PubMed

Stessman H.A., Turner T.N., Eichler E.E. Molecular subtyping and improved treatment of neurodevelopmental disease. Genome Med. 8, 22 (2016) PubMed

Stessman H.A., Willemsen M.H., Fenckova M., Penn O., Hoischen A., Xiong B., Wang T., Hoekzema K., Vives L., Vogel I., Brunner H.G., van der Burgt I., Ockeloen C.W., Schuurs-Hoeijmakers J.H., Klein Wassink-Ruiter J.S., Stumpel C., Stevens S.J., Vles H.S., Marcelis C.M., van Bokhoven H., Cantagrel V., Colleaux L., Nicouleau M., Lyonnet S., Bernier R.A., Gerdts J., Coe B.P., Romano C., Alberti A., Grillo L., Scuderi C., Nordenskjöld M., Kvarnung M., Guo H., Xia K., Piton A., Gerard B., Genevieve D., Delobel B., Lehalle D., Perrin L., Prieur F., Thevenon J., Gecz J., Shaw M., Pfundt R., Keren B., Jacquette A., Schenck A., Eichler E.E., Kleefstra T. Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. Am. J. Hum. Genet. 98, 541-552 (2016) PubMed

Stephenson-Jones M., Yu K., Ahrens S., Tucciarone J.M., van Huijstee A.N., Mejia L.A., Penzo M.A., Tai L.H., Wilbrecht L., Li B. A basal ganglia circuit for evaluating action outcomes. Nature Epub ahead of print (2016) PubMed

Stevenson R.A., Segers M., Ferber S., Barense M.D., Camarata S., Wallace M.T. Keeping time in the brain: Autism spectrum disorder and audiovisual temporal processing. Autism Res. 9, 720-738 (2016) PubMed

St. John T., Estes A.M., Dager S.R., Kostopoulos P., Wolff J.J., Pandey J., Elison J.T., Paterson S.J., Schultz R.T., Botteron K., Hazlett H., Piven J. Emerging executive functioning and motor development in infants at high and low risk for autism spectrum disorder. Front. Psychol. 7, 1016 (2016) PubMed

Tai D.J., Ragavendran A., Manavalan P., Stortchevoi A., Seabra C.M., Erdin S., Collins R.L., Blumenthal I., Chen X., Shen Y., Sahin M., Zhang C., Lee C., Gusella J.F., Talkowski M.E. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat. Neurosci. 19, 517-522 (2016) PubMed

Tecuapetla F., Jin X., Lima S.Q., Costa R.M. Complementary contributions of striatal projection pathways to action initiation and execution. Cell 166, 703-715 (2016) PubMed

Thompson A.D., Picard N., Min L., Fagiolini M., Chen C. Cortical feedback regulates feedforward retinogeniculate refinement. Neuron 91, 1021-1033 (2016) PubMed

Wagner J.B., Luyster R.J., Tager-Flusberg H., Nelson C.A. Greater pupil size in response to emotional faces as an early marker of social-communicative difficulties in infants at high risk for autism. Infancy 21, 560-581 (2016) PubMed

Webster R., Cho M.T., Retterer K., Millan F., Nowak C., Douglas J., Ahmad A., Raymond G.V., Johnson M.R., Pujol A., Begtrup A., McKnight D., Devinsky O., Chung W.K. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin. Genet. Epub ahead of print (2016) PubMed

Wells M.F., Wimmer R.D., Schmitt L.I., Feng G., Halassa M.M. Thalamic reticular impairment underlies attention deficit in PTCHD1Y/- mice. Nature. 532, 58-63 (2016) PubMed

Wenger T.L., Kao C., McDonald-McGinn D.M., Zackai E.H., Bailey A., Schultz R.T., Morrow B.E., Emanuel B.S., Hakonarson H. The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder. Sci. Rep. 6, 19372 (2016) PubMed

Wenger T.L., Miller J.S., DePolo L.M., de Marchena A.B., Clements C.C., Emanuel B.S., Zackai E.H., McDonald-McGinn D.M., Schultz R.T. 22q11.2 duplication syndrome: Elevated rate of autism spectrum disorder and need for medical screening. Mol. Autism 7, 27 (2016) PubMed

Xing L., Larsen R.S., Bjorklund G.R., Li X., Wu Y., Philpot B.D., Snider W.D., Newbern J.M. Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex. Elife 5 (2016) PubMed

Yu K., Garcia da Silva P., Albeanu D.F., Li B. Central amygdala somatostatin neurons gate passive and active defensive behaviors. J. Neurosci. 36, 6488-6496 (2016) PubMed

Zaman S., Yazdani U., Deng Y., Li W., Gadad B.S., Hynan L., Karp D., Roatch N., Schutte C., Nathan Marti C., Hewitson L., German D.C. A search for blood biomarkers for autism: Peptoids. Sci. Rep. 6, 19164 (2016) PubMed

Zhou Y., Kaiser T., Monteiro P., Zhang X., Van der Goes M.S., Wang D., Barak B., Zeng M., Li C., Lu C., Wells M., Amaya A., Nguyen S., Lewis M., Sanjana N., Zhou Y., Zhang M., Zhang F., Fu Z., Feng G. Mice with SHANK3 mutations associated with ASD and schizophrenia display both shared and distinct defects. Neuron 89, 147-162 (2016) PubMed

SSC (2016)

Aggarwala V. and B.F. Voight An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. Nat. Genet. 48, 349-355 (2016) PubMed

Baugh E.H., Simmons-Edler R., Müller C.L., Alford R.F., Volfovsky N., Lash A.E., Bonneau R. Robust classification of protein variation using structural modelling and large-scale data integration. Nucleic Acids Res. 44, 2501-2513 (2016) PubMed

Brimberg L., Mader S., Jeganathan V., Berlin R., Coleman T.R., Gregersen P.K., Huerta P.T., Volpe B.T., Diamond B. CASPR2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice. Mol. Psychiatry Epub ahead of print (2016) PubMed

Chang Y.S., Owen J.P., Pojman N.J., Thieu T., Bukshpun P., Wakahiro M.L., Marco E.J., Berman J.I., Spiro J.E., Chung W.K., Buckner R.L., Roberts T.P., Nagarajan S.S., Sherr E.H., Mukherjee P. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Hum. Brain Mapp. Epub ahead of print (2016) PubMed

Dempsey J., Dempsey A.G., Guffey D., Minard C.G., Goin-Kochel R.P. Brief report: Further examination of self-injurious behaviors in children and adolescents with autism spectrum disorders. J. Autism Dev. Disord. 46, 1872-1879 (2016) PubMed

Doan R.N., Bae B.I., Cubelos B., Chang C., Hossain A.A., Al-Saad S., Mukaddes N.M., Oner O., Al-Saffar M., Balkhy S., Gascon G.G., Homozygosity Mapping Consortium for Autism, Nieto M., Walsh C.A. Mutations in human accelerated regions disrupt cognition and social behavior. Cell 167, 341-354 (2016) PubMed

Fischbach R.L., Harris M.J., Ballan M.S., Fischbach G.D., Link B.G. Is there concordance in attitudes and beliefs between parents and scientists about autism spectrum disorder? Autism. 20, 353-363 (2016) PubMed

Freed D. and J. Pevsner The contribution of mosaic variants to autism spectrum disorder. PLOS Genet. 12, e1006245 (2016) PubMed

Green Snyder L., D'Angelo D., Chen Q., Bernier R., Goin-Kochel R.P., Wallace A.S., Gerdts J., Kanne S., Berry L., Blaskey L., Kuschner E., Roberts T., Sherr E., Martin C.L., Ledbetter D.H., Spiro J.E., Chung W.K., Hanson E., Simons VIP Consortium. Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication. J. Autism Dev. Disord. 46, 2734-2748 (2016) PubMed

Jane Webb S., Garrison M.M., Bernier R., McClintic A.M., King B.H., Mourad P.D. Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound. Autism Res. Epub ahead of print (2016) PubMed

Kinnear S.H., Link B.G., Ballan M.S., Fischbach R.L. Understanding the experience of stigma for parents of children with autism spectrum disorder and the role stigma plays in families' lives. J. Autism Dev. Disord. 46, 942-953 (2016) PubMed

Poopal A.C., Schroeder L.M., Horn P.S., Bassell G.J., Gross C. Increased expression of the PI3K catalytic subunit p110-delta underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family. Mol. Autism 7, 3 (2016) PubMed

Robinson E.B., St Pourcain B., Anttila V., Kosmicki J.A., Bulik-Sullivan B., Grove J., Maller J., Samocha K.E., Sanders S.J., Ripke S., Martin J., Hollegaard M.V., Werge T., Hougaard D.M., iPSYCH-SSI-Broad Autism Group, Neale B.M., Evans D.M., Skuse D., Mortensen P.B., Borglum A.D., Ronald A., Smith G.D., Daly M.J. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nat. Genet. 48, 552-555 (2016) PubMed

Sharda M., Foster N.E., Tryfon A., Doyle-Thomas K.A., Ouimet T., Anagnostou E., Evans A.C., Zwaigenbaum L., Lerch J.P., Lewis J.D., Hyde K.L.; for NeuroDevNet ASD Imaging Group. Language ability predicts cortical structure and covariance in boys with autism spectrum disorder. Cereb. Cortex Epub ahead of print (2016) PubMed

Turner T.N., Hormozdiari F., Duyzend M.H., McClymont S.A., Hook P.W., Iossifov I., Raja A., Baker C., Hoekzema K., Stessman H.A., Zody M.C., Nelson B.J., Huddleston J., Sandstrom R., Smith J.D., Hanna D., Swanson J.M., Faustman E.M., Bamshad M.J., Stamatoyannopoulos J., Nickerson D.A., McCallion A.S., Darnell R., Eichler E.E. Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA. Am. J. Hum. Genet. 98, 58-74 (2016) PubMed

van Bon B.W., Coe B.P., Bernier R., Green C., Gerdts J., Witherspoon K., Kleefstra T., Willemsen M.H., Kumar R., Bosco P., Fichera M., Li D., Amaral D., Cristofoli F., Peeters H., Haan E., Romano C., Mefford H.C., Scheffer I., Gecz J., de Vries B.B., Eichler E.E. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol. Psychiatry 21, 126-132 (2016) PubMed

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SSC (2013)

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