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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 phenotype data or biospecimens from the Simons Simplex Collection or Simons Variation in Individuals Project. We plan to update this list on a quarterly basis.

Please contact publications@simonsfoundation.org if you notice omissions or have a new publication you’d like us to add.

2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006

In Press/Under Review


Carayol J., Amiet C., Génin B., Frazier B.W., Abrahams B.S. A Common polygenic background for multiplex and simplex autism. Mol. Autism Under review.

Nowell K.P., Brewton C.M., Lasala M., Goin-Kochel R.P. A multi-rater study on being teased among children/adolescents with autism spectrum disorder (ASD) and their typically developing siblings: Associations with ASD symptoms. Focus Autism Other Dev. Disabl. Abstract


Moreno De Luca A., Evans D., Boomer K.B., Hanson E., Bernier R., Goin-Kochel R.P., Myers S.M., Challman T.D., Moreno De Luca D., Chung W., Spiro J., Martin C.L., Ledbetter D.H. Clinical variability in individuals with 16p11.2 de novo deletions is partially attributable to parental cognitive, behavioral and motor profiles. JAMA Psych. In press.


Bernier R., Golzio C., Xiong B., Stessman H.A., Coe B.P., Penn O., Witherspoon K., Gerdts J., Baker C., Vulto-van Silfhout A.T., Schuurs-Hoeijmakers J.H., Fichera M., Bosco P., Buono S., Alberti A., Failla P., Peeters H., Steyaert J., Vissers L.E., Francescatto L., Mefford H.C., Rosenfeld J.A., Bakken T., O’Roak B.J., Pawlus M., Moon R., Shendure J., Amaral D.G., Lein E., Rankin J., Romano C., de Vries B.B., Katsanis N., Eichler E.E. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158, 263-276 (2014) PubMed

Castro J., Garcia R.I., Kwok S., Banerjee A., Petravicz J., Woodson J., Mellios N., Tropea D., Sur M. Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome. Proc. Natl. Acad. Sci. USA 111, 9941-9946 (2014) PubMed

Duda M., Kosmicki J.A., Wall D.P. Testing the accuracy of an observation-based classifier for rapid detection of autism risk. Transl. Psychiatry 4, e424 (2014) PubMed

Frazier T.W., Georgiades S., Bishop S.L., Hardan A.Y. Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection. J. Am. Acad. Child Adolesc. Psychiatry 53, 329-340 (2014)PubMed

Fusaro V.A., Daniels J., Duda M., DeLuca T.F., D’Angelo O., Tamburello J., Maniscalco J., Wall D.P. The potential of accelerating early detection of autism through content analysis of YouTube videos. PLoS One 9, e93533 (2014) PubMed

Guo J.U., Su Y., Shin J.H., Shin J., Li H., Xie B., Zhong C., Hu S., Le T., Fan G., Zhu H., Chang Q., Gao Y., Ming G.L., Song H. Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain.Nat. Neurosci. 17, 215-22 (2014) PubMed

Gupta A.R., Pirruccello M., Cheng F., Kang H.J., Fernandez T.V., Baskin J.M., Choi M., Liu L., Ercan-Sencicek A.G., Murdoch J.D., Klei L., Neale B.M., Franjic D., Daly M.J., Lifton R.P., De Camilli P., Zhao H., Šestan N.State M.W. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol. Autism 5, 31 (2014) PubMed

Moore M.J., Zhang C., Gantman E.C., Mele A., Darnell J.C.Darnell R.B. Mapping Argonaute and conventional RNA-binding protein interactions with RNA at single-nucleotide resolution using HITS-CLIP and CIMS analysis. Nat. Protoc. 9, 263-293 (2014) PubMed

O'Connor E.C., Bariselli S., Bellone C. Synaptic basis of social dysfunction: A focus on postsynaptic proteins linking group-I mGluRs with AMPARs and NMDARs. Eur. J. Neurosci. 39, 1114-1129 (2014) PubMed

Orosco L.A., Ross A.P., Cates S.L., Scott S.E., Wu D., Sohn J., Pleasure D., Pleasure S.J., Adamopoulos I.E., Zarbalis K.S. Loss of WDFY3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. Nat Commun. 5, 4692 (2014) PubMed

Portmann T., Yang M., Mao R., Panagiotakos G., Ellegood J., Dolen G., Bader P.L., Grueter B.A., Goold C., Fisher E., Clifford K., Rengarajan P., Kalikhman D., Loureiro D., Saw N.L., Zhengqui Z., Miller M.A., Lerch J.P., Henkelman R.M., Shamloo M., Malenka R.C.Crawley J.N.Dolmetsch R.E. Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. Cell Rep. 7, 1077-1092 (2014) PubMed

Rosti R.O., Sadek A.A., Vaux K.K., Gleeson J.G. The genetic landscape of autism spectrum disorders. Dev. Med. Child Neurol. 56,12-18 (2014) PubMed

Schaffer A.E., Eggens V.R., Caglayan A.O., Reuter M.S., Scott E., Coufal N.G., Silhavy J.L., Xue Y., Kayserili H., Yasuno K., Rosti R.O., Abdellateef M., Caglar C., Kasher P.R., Cazemier J.L., Weterman M.A., Cantagrel V., Cai N., Zweier C., Altunoglu U., Satkin N.B., Aktar F., Tuysuz B., Yalcinkaya C., Caksen H., Bilguvar K., Fu X.D., Trotta C.R., Gabriel S., Reis A., Gunel M., Baas F., Gleeson J.G. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell 157, 651-663 (2014) PubMed

Schwede M., Garbett K., Mirnics K., Geschwind D.H.Morrow E.M. Genes for endosomal NHE6 and NHE9 are misregulated in autism brains. Mol. Psvchiatrv 19, 277-279 (2014) PubMed

Stevenson R.A., Siemann J.K., Schneider B.C., Eberly H.E., Woynaroski T.G., Camarata S.M., Wallace M.T. Multisensory temporal integration in autism spectrum disorders. J. Neurosci. 34, 691-697 (2014) PubMed

Stevenson R.A., Siemann J.K., Woynaroski T.G., Schneider B.C., Eberly H.E., Camarata S.M., Wallace M.T. Brief report: Arrested development of audiovisual speech perception in autism spectrum disorders. J. Autism Dev. Disord. 44, 1470-1477 (2014) PubMed

Tang G., Gudsnuk K., Kuo S.H., Cotrina M.L., Rosoklija G., Sosunov A., Sonders M.S., Kanter E., Castagna C., Yamamoto A., Yue Z., Arancio O., Peterson B.S., Champagne F., Dwork A.J., Goldman J., Sulzer D. Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron 83, 1131-1143 (2014) PubMed

Wan Y., Ade K.K., Caffall Z., Ilcim Ozlu M., Eroglu C., Feng G., Calakos N.Circuit-selective striatal synaptic dysfunction in the SAPAP3 knockout mouse model of obsessive-compulsive disorder.Biol. Psychiatry 75, 623-630 (2014) PubMed

Weyn-Vanhentenryck S.M., Mele A., Yan Q., Sun S., Farny N., Zhang Z., Xue C., Herre M., Silver P.A., Zhang M.Q., Krainer A.R., Darnell R.B., Zhang C. HITS-CLIP and integrative modeling define the RBFOX splicing-regulatory network linked to brain development and autism. Cell Rep. 6, 1139-1152 (2014) PubMed


Ackerman S., Wenegrat J., Rettew D., Althoff R., Bernier R. No increase in autism associated genetic events in children conceived by assisted reproductive technology. Fertil. Steril. 102, 388-393 (2014) PubMed

Ankenman K., Elgin J., Sullivan K., Vincent L., Bernier R. Nonverbal and verbal cognitive discrepancy profiles in autism spectrum disorders: Influence of age and gender. Am. J. Intellect. Dev. Disabil. 119, 84-99 (2014) PubMed

Carayol J., Génin B., Amiet C., Liebaert F., Thiébaut R., Abrahams B.S., Frazier T.W. (2014, May). Common polygenic variations in autism. Poster presented at the International Meeting for Autism Research, Atlanta, GA. Abstract

Davidson J., Goin-Kochel R.P., Green-Snyder L.A., Hundley R.J., Warren Z., Peters S.U. 2012. Expression of the broad autism phenotype in simplex autism families from the Simons Simplex Collection. J. Autism Dev. Disord. 44, 2392-2399 (2014) PubMed

Goin-Kochel, R.P., Esler, A.N., Kanne, S.M., & Hus, V. (2014). Developmental regression among children with autism spectrum disorders: Onset, duration, and effects on functional outcomes. Res. Autism Spectr. Disord. 8, 890-898 (2014) Abstract

Krumm N., O'Roak B.J., Shendure J., Eichler E.E. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 37, 95-105 (2014) PubMed

Mire S.S., Nowell K.P., Kubiszyn T., Goin-Kochel R.P. Psychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: Are core features of autism spectrum disorder related? Autism 18, 933-942 (2014) PubMed

Wade J.L., Cox N.B., Reeve R.E., Hull M. Brief report: Impact of child problem behaviors and parental broad autism phenotype traits on substance use among parents of children with ASD. J. Autism Dev. Disord. 44, 2621-2627 (2014) PubMed


Chaste P., Sanders S.J., Mohan K.N., Klei L., Song Y., Murtha M.T., Hus V., Lowe J.K., Willsey A.J., Moreno-De-Luca D., Yu T.W., Fombonne E., Geschwind D., Grice D.E., Ledbetter D.H., Lord C., Mane S.M., Martin D.M., Morrow E.M., Walsh C.A., Sutcliffe J.S., State M.W., Martin C.L., Devlin B., Beaudet A. L., Cook E.H. Jr., Kim S.J. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res. 7, 355-362 (2014) PubMed

Hanson E., Bernier R., Porche K., Jackson F.I., Goin-Kochel R.P.,  Snyder L.G., Snow A.V., Wallace A.S., Campe K.L., Zhang Y., Chen Q., D'Angelo D., Moreno-De-Luca A., Orr P.T., Boomer K.B., Evans D.W., Kanne S., Berry L., Miller F.K., Olson J., Sherr E., Martin C.L., Ledbetter D.H., Spiro J.E., Chung W.K. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol. Psychiatry Epub ahead of print (2014) PubMed

Jacquemont S., Coe B.P., Hersch M., Duyzend M.H., Krumm N., Bergmann S., Beckmann J.S., Rosenfeld J.A., Eichler E.E. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am. J. Hum. Genet. 94, 415-425 (2014) PubMed

Qureshi A.Y., Mueller S., Snyder A.Z., Mukherjee P., Berman J.I., Roberts T.P., Nagarajan S.S., Spiro J.E., Chung W.K., Sherr E.H., Buckner R.L. Opposing brain differences in 16p11.2 deletion and duplication carriers. J. Neurosci. 34, 11199-11211 (2014) PubMed


Akizu N., Cantagrel V., Schroth J., Cai N., Vaux K., McCloskey D., Naviaux R.K., Van Vleet J., Fenstermaker A.G., Silhavy J.L., Scheliga J.S., Toyama K., Morisaki H., Sonmez F.M., Celep F., Oraby A., Zaki M.S., Al-Baradie R., Faqeih E.A., Saleh M.A., Spencer E., Rosti R.O., Scott E., Nickerson E., Gabriel S., Morisaki T., Holmes E.W., Gleeson J.G. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154, 505-517 (2013) PubMed

Akizu N., Shembesh N.M., Ben-Omran T., Bastaki L., Al-Tawari A., Zaki M.S., Koul R., Spencer E., Rosti R.O., Scott E., Nickerson E., Gabriel S., da Gente G., Li J., Deardorff M.A., Conlin L.K., Horton M.A., Zackai E.H., Sherr E.H., Gleeson J.G. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am. J. Hum. Genet. 92, 392-400 (2013) PubMed

Baek S.T., Gibbs E.M., Gleeson J.G., Mathern G.W. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Curr. Opin. Neurol. 26, 122-127 (2013) PubMed

Blechman J. and G. Levkowitz Alternative splicing of the pituitary adenylate cyclase-activating polypeptide receptor PAC1: Mechanisms of fine tuning of brain activity. Front. Endocrinol. (Lausanne) 4, 55 (2013) PubMed

Brimberg L., Sadiq A., Gregersen P.K.Diamond B. Brain-reactive lgG correlates with autoimmunity in mothers of a child with an autism spectrum disorder. Mol. Psychiatry 18, 1171-1177 (2013) PubMed

Burguière E., Monteiro P., Feng G., Graybiel A.M. Optogenetic stimulation of lateral orbitofronto-striatal pathway suppresses compulsive behaviors. Science 340, 1243-1246 (2013) PubMed

Carpentier P.A., Haditsch U., Braun A.E., Cantu A.V., Moon H.M., Price R.O., Anderson M.P., Saravanapandian V., Ismail K., Rivera M., Weimann J.M., Palmer T.D. Stereotypical alterations in cortical patterning are associated with maternal illness-induced placental dysfunction. J. Neurosci. 33, 16874-16888 (2013) PubMed

Chen W.V. and T. Maniatis Clustered protocadherins. Development 140, 3297-3302 (2013) PubMed

Geschwind D.H. and P. Rakic Cortical evolution: Judge the brain by its cover. Neuron 80, 633-647 (2013) PubMed

Ghanizadeh A., Berk M., Farrashbandi H., Alavi Shoushtari A., Villagonzalo K.A. Targeting the mitochondrial electron transport chain in autism, a systematic review and synthesis of a novel therapeutic approach.Mitochondrion 13, 515-519 (2013) PubMed

Giordano F., Saheki Y., Idevall-Hagren O., Colombo S.F., Pirruccello M., Milosevic I., Gracheva E.O., Bagriantsev S.N., Borgese N., De Camilli P. PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins. Cell 153, 1494-1509 (2013) PubMed

Gonzalez C., Martin J.M., Minshew N.J., Behrmann M. Practice makes improvement: How adults with autism out-perform others in a naturalistic visual search task.J. Autism Dev. Disord. 43, 2259-2268 (2013) PubMed

Grubb M.A., Behrmann M., Egan R., Minshew N.J., Heeger D.J., Carrasco M. Exogenous spatial attention: Evidence for intact functioning in adults with autism spectrum disorder. J. Vis. 13 (2013) PubMed

Grubb M.A., Behrmann M., Egan R., Minshew N.J., Carrasco M., Heeger D.J. Endogenous spatial attention: Evidence for intact functioning in adults with autism.Autism Res. 6, 108-118 (2013) PubMed

He X., Sanders S.J., Liu L., De Rubeis S., Lim E.T., Sutcliffe J.S., Schellenberg G.D., Gibbs R.A., Daly M.J., Buxbaum J.D., State M.W., Devlin B., Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.PLoS Genet. 9, e1003671 (2013) PubMed

Hu S., Wan J., Su Y., Song Q., Zeng Y., Nguyen H.N., Shin J., Cox E., Rho H.S., Woodard C., Xia S., Liu S., Lyu H., Ming G.L., Wade H., Song H., Qian J., Zhu H. DNA methylation presents distinct binding sites for human transcription factors. eLife 2, e00726 (2013) PubMed

Kaas G.A., Zhong C., Eason D.E., Ross D.L., Vachhani R.V., Ming G.L., King J.R., Song H.Sweatt J.D. TET1 controls CNS 5-methylcytosine hydroxylation, active DNA demethylation, gene transcription, and memory formation. Neuron 79, 1086-1093 (2013) PubMed

King I.F., Yandava C.N., Mabb A.M., Hsiao J.S., Huang H.S., Pearson B.L., Calabrese J.M., Starmer J., Parker J.S., Magnuson T., Chamberlain S.J., Philpot B.D., Zylka M.J.Topoisomerases facilitate transcription of long genes linked to autism. Nature 501, 58-62 (2013) PubMed

Krasnitz A., Sun G., Andrews P., Wigler M. Target inference from collections of genomic intervals.
Proc. Natl. Acad. Sci. USA 110, e2271-2278 (2013) PubMed

Li Y., Wang H., Muffat J., Cheng A.W., Orlando D.A., Lovén J., Kwok S.M., Feldman D.A., Bateup H.S., Gao Q., Hockemeyer D., Mitalipova M., Lewis C.A., Vander Heiden M.G., Sur M., Young R.A., Jaenisch R. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons. Cell Stem Cell 13, 446-458 (2013) PubMed

Lloyd-Fox S., Blasi A., Elwell C.E., Charman T., Murphy D., Johnson M.H. Reduced neural sensitivity to social stimuli in infants at risk for autism. Proc. Biol. Sci. 280, 20123026 (2013) PubMed

Oksenberg N and. N. Ahituv The role of AUTS2 in neurodevelopment and human evolution.Trends Genet. 29, 600-608 (2013) PubMed

Oksenberg N., Stevison L., Wall J.D., Ahituv N. Function and regulation of AUTS2, a gene implicated in autism and human evolution.PLoS Genet. 9, e1003221 (2013) PubMed

Ouyang Q., Lizarraga S.B., Schmidt M., Yang U., Gong J., Kauer J.A., Morrow E.M. Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. Neuron 80, 97-112 (2013) PubMed

Parikshak N.N., Luo R., Zhang A., Won H., Lowe J.K., Chandran V., Horvath S., Geschwind D.H. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 155, 1008-1021 (2013) PubMed

Shin J., Ming G.L., Song H. By hook or by crook: Multifaceted DNA-binding properties of MeCP2. Cell 152, 940–942 (2013) PubMed

Song C.X., Szulwach K.E., Dai Q., Fu Y., Mao S.Q., Lin L., Street C., Li Y., Poidevin M., Wu H., Gao J., Liu P., Li L., Xu G.L., Jin P.He C. Genome-wide profiling of 5-formylcytosine reveals its roles in epigenetic priming.Cell 153, 678-691 (2013) PubMed

Talebizadeh Z., Arking D.E.Hu V.W. A novel stratification method in linkage studies to address inter- and intra-family heterogeneity in autism. PLoS One 8, e67569 (2013) PubMed

Tang G., Gutierrez Rios P., Kuo S.H., Akman H.O., Rosoklija G., Tanji K., Dwork A., Schon E.A., DiMauro S., Goldman J., Sulzer D. Mitochondrial abnormalities in temporal lobe of autistic brain. Neurobiol. Dis. 54, 349-361 (2013) PubMed

Said C.P., Egan R.D., Minshew N.J., Behrmann M., Heeger D.J. Normal binocular rivalry in autism: Implications for the excitation/inhibition imbalance hypothesis.Vision Res. 77, 59-66 (2013) PubMed

Willsey A.J., Sanders S.J., Li M., Dong S., Tebbenkamp A.T., Muhle R.A., Reilly S.K., Lin L., Fertuzinhos S., Miller J.A., Murtha M.T., Bichsel C., Niu W., Cotney J., Ercan-Sencicek A.G., Gockley J., Gupta A.R., Han W., He X., Hoffman E.J., Klei L., Lei J., Liu W., Liu L., Lu C., Xu X., Zhu Y., Mane S.M., Lein E.S., Wei L., Noonan J.P., Roeder K., Devlin B., Sestan N., State M.W. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.Cell 155, 997-1007 (2013) PubMed

Yuan T., Mameli M., O’Connor E.C., Dey P.N., Verpelli C., Sala C., Perez-Otano I., Lüscher C.Bellone C. Expression of cocaine-evoked synaptic plasticity by GluN3A-containing NMDA receptors. Neuron 80, 1025-1038 (2013) PubMed

Zang T., Maksimova M.A., Cowan C.W., Bassel-Duby R., Olson E.N., Huber K.M. Postsynaptic FMRP bidirectionally regulates excitatory synapses as a function of developmental age and MEF2 activity. Mol. Cell Neurosci.56, 39-49 (2013) PubMed


Amiet C., Gourfinkel-An I., Laurent C., Carayol J., Génin B., Leguern E., Tordjman S., Cohen S. Epilepsy in simplex autism pedigrees is much lower than the rate in multiplex autism pedigrees. Biol. Psychiatry 74, e3-4 (2013) PubMed

Bishop S.L., Hus V., Duncan A., Huerta M., Gotham K., Pickles A., Kreiger A., Buja A., Lund S., Lord, C. Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders. J. Autism Dev. Disord. 43, 1287-1297 (2013) PubMed

Carayol J., Génin B., Liebaert F., Thiébaut R., Abrahams B.S., Frazier T.W., Amiet C. (2013, October). Evidence for a common polygenic component in risk of autism. Poster presented at the annual meeting of the American Academy of Child and Adolescent Psychiatry, Orlando, FL.

Gamsiz E.D., Viscidi E.W., Frederick A.M., Nagpal S., Sanders S.J., Murtha M.T., Schmidt M.; Simons Simplex Collection Genetics Consortium, Triche E.W., Geschwind D.H., State M.W., Istrail S., Cook E.H. Jr., Devlin B., Morrow E.M. Intellectual disability is associated with increased runs of homozygosity in simplex autism. Am. J. Hum. Genet. 93, 103-109 (2013) PubMed

Girirajan S., Dennis M.Y., Baker C., Malig M., Coe B.P., Campbell C.D., Mark K., Vu T.H., Alkan C., Cheng Z., Biesecker L.G., Bernier R., Eichler E.E. (2013). Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am. J. Hum. Genet. 92, 221-237 (2013) PubMed

Gotham K., Bishop S.L., Hus V., Huerta M., Lund S., Buja A., Krieger A., Lord C. Exploring the relationship between anxiety and insistence on sameness in autism spectrum disorders. Autism Res. 6, 33-41 (2013) PubMed

Hanson E., Cerban B.M., Slater C.M., Caccamo L.M., Bacic J., Chan E. Brief report: Prevalence of attention deficit/hyperactivity disorder among individuals with an autism spectrum disorder. J. Autism Dev. Disord. 43, 1459-1464 (2013) PubMed

Hus V., Bishop S., Gotham K., Huerta M., Lord C. Factors influencing scores on the Social Responsiveness Scale. J. Child Psychol. Psychiatry 54, 216-224 (2013) PubMed

Hus V. and C. Lord Effects of child characteristics on the Autism Diagnostic Interview-Revised: Implications for use of scores as a measure of ASD severity. J. Autism Dev. Disord. 43, 371-381 (2013) PubMed

Kong S.W., Shimizu-Motohashi Y., Campbell M.G., Lee I.H., Collins C.D., Brewster S.J., Holm I.A., Rappaport L., Kohane I.S., Kunkel L.M. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics 14, 143-152 (2013) PubMed

Krumm N., O'Roak B.J., Karakoc E., Mohajeri K., Nelson B., Vives L., Jacquemont S., Munson J., Bernier R., Eichler E.E. Transmission disequilibrium of small CNVs in simplex autism. Am. J. Hum. Genet. 93, 595-606 (2013) PubMed

Moreno-De-Luca D., Sanders S.J., Willsey A.J., Mulle J.G., Lowe J.K., Geschwind D.H., State M.W., Martin C.L., Ledbetter D.H. Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts. Mol. Psychiatry 18, 1090-1095 (2013) PubMed 

Sagar A., Bishop J.R., Tessman D.C., Guter S., Martin C.L., Cook E.H. Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion. Am. J. Med. Genet. A. 161A, 845-849 (2013) PubMed

Yu T.W., Chahrour M.H., Coulter M.E., Jiralerspong S., Okamura-Ikeda K., Ataman B., Schmitz-Abe K., Harmin D.A., Adli M., Malik A.N., D'Gama A.M., Lim E.T., Sanders S.J., Mochida G.H., Partlow J.N., Sunu C.M., Felie J.M., Rodriguez J., Nasir R.H., Ware J., Joseph R.M., Hill R.S., Kwan B.Y., Al-Saffar M., Mukaddes N.M., Hashmi A., Balkhy S., Gascon G.G., Hisama F.M., LeClair E., Poduri A., Oner O., Al-Saad S., Al-Awadi S.A., Bastaki L., Ben-Omran T., Teebi A.S., Al-Gazali L., Eapen V., Stevens C.R., Rappaport L., Gabriel S., Markianos K., State M.W., Greenberg M.E., Taniguchi H., Braverman N.E., Morrow E.M., Walsh C.A. Using whole-exome sequencing to identify inherited causes of autism. Neuron  77, 259-273 (2013) PubMed


Chaste P., Klei L., Sanders S.J., Murtha M.T., Hus V., Lowe J.K., Willsey A.J, Moreno-DeLuca D., Yu T.W., Fombonne E., Geschwind D., Grice D.E., Ledbetter D.H., Lord C., Mane S.M., Lese Martin C., Martin D.M., Morrow E.M., Walsh C.A., Sutcliffe J.S., State M.W., Devlin B., Cook E.H. Jr., Kim S. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol. Psychiatry 74, 576-584 (2013) PubMed

Cross-Disorder Group of the Psychiatric Genomics Consortium. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat. Genet. 45, 984-994 (2013) PubMed


Benson D.L. and G.W. HuntleySynapse adhesion: A dynamic equilibrium conferring stability and flexibility.Curr. Opin. Neurobiol. 22, 397-404 (2012) PubMed

Chen Y.C., Lin Y.Q., Banerjee S., Venken K., Li J., Ismat A., Chen K., Duraine L., Bellen H.J., Bhat M.A. Drosophila neuroligin 2 is required presynaptically and postsynaptically for proper synaptic differentiation and synaptic transmission.J. Neurosci. 32, 16018-16030 (2012) PubMed

Chow M.L., Pramparo T., Winn M.E., Barnes C.C., Li H.R., Weiss L., Fan J.B., Murray S., April C., Belinson H., Fu X.D., Wynshaw-Boris A., Schork N.J., Courchesne E. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.PLoS Genet.8, e1002592 (2012) PubMed

Chow M.L., Winn M.E., Li H-R., April C., Wynshaw-Boris A., Fan J-B., Fu X-D., Courchesne E., Schork N.J. Preprocessing and quality control strategies for Illumina DASL assay-based brain gene expression studies with semi-degraded samples. Front. Genet. 3, 1-10 (2012) Abstract

Dinstein I., Heeger D.J., Lorenzi L., Minshew N.J., Malach R., Behrmann M. Unreliable evoked responses in autism.Neuron 75, 981-991 (2012) PubMed

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