Publications

You're currently looking at our Published Research page, if you're interested to see what we are currently working on, you can have a look at our Current Research page.

Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. Traglia M, Croen LA, Jones KL, Heuer LS, Yolken R, Kharrazi M, DeLorenze GN, Ashwood P, Van de Water J, Weiss LA. Genome Med. 2018. (PMID: 30134952).

RASopathies are associated with a distinct personality profile. Bizaoui V, Gage J, Brar R, Rauen KA, Weiss LA. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun. (PMID: 29659143)

Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders. Deshpande A, Weiss LA. Dev Neurobiol. 2018 May. (PMID: 29575775)

Age and ASD symptoms in Costello syndrome. Young O, Perati S, Weiss LA, Rauen KA. Am J Med Genet A. 2018 Apr. (PMID: 29575620)

Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders. Deshpande A, Weiss LA. Dev Neurobiol. 2018 Mar 25. (PMID: 29575775).

Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder. Deshpande A, Yadav S, Dao DQ, Wu ZY, Hokanson KC, Cahill MK, Wiita AP, Jan YN, Ullian EM, Weiss LA. Cell Reports. 2017 Dec 5. (PMID: 29212016). 

Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. Traglia M, Croen LA, Lyall K, Windham GC, Kharrazi M, DeLorenze GN, Torres AR, Weiss LA. G3 (Bethesda). 2017 Apr 3. (PMID: 28235828). 

Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. Mitra I, Lavillaureix A, Yeh E, Traglia M, Tsang K, Bearden CE, Rauen KA, Weiss LA. PLoS Genetics. 2017 Jan 11. (PMID: 28076348)

Genetic Mechanisms Leading to Sex Differences Across Common Diseases and Anthropometric Traits. Traglia M, Bseiso D, Gusev A, Adviento B, Park DS, Mefford JA, Zaitlen N, Weiss LA. Genetics. 2016 Dec 14. (PMID: 27974502)

Pleiotropic Mechanisms Indicated for Sex Differences in Autism. Mitra I, Tsang K, Ladd-Acosta C, Croen LA, Aldinger KA, Hendren RL, Traglia M, Lavillaureix A, Zaitlen N, Oldham MC, Levitt P, Nelson S, Amaral DG, Herz-Picciotto I, Fallin MD, Weiss LA. PLoS Genetics. 2016 Nov 15. (PMID: 27846226)

If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism. Yeh E, Weiss LA. Mol Cell Probes. 2016 Oct 14. (PMID: 27751841)

Maternal mid-pregnancy C-reactive protein and risk of autism spectrum disorders: the early markers for autism study. Zerbo O, Traglia M, Yoshida C, Heuer LS, Ashwood P, Delorenze GN, Hansen RL, Kharrazi M, Van de Water J, Yolken RH, Weiss LA, Croen LA. Translational Psychiatry. 2016 Apr 19. (PMID: 27093065)

Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders. Savova V, Vinogradova S, Pruss D, Gimelbrant AA, Weiss LA. Molecular Psychiatry. 2017 Mar 7. (PMID: 28265118) 

Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. Rooney GE, Goodwin AF, Depeille P, Sharir A, Schofield CM, Yeh E, Roose JP, Klein OD, Rauen KA, Weiss LA, Ullian EM. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2016 Jan 6. (PMID: 26740656)

Dysregulation of astrocyte extracellular signaling in Costello syndrome. Krencik R, Hokanson KC, Narayan AR, Dvornik J, Rooney GE, Rauen KA, Weiss LA, Rowitch DH, Ullian EM. Science translational medicine. 2015 May 6. (PMID: 25947161)

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. Maier R, Moser G, Chen GB, Ripke S, Coryell W, et al. American journal of human genetics. 2015 Feb 5. (PMID: 25640677)

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium. Nature neuroscience. 2015 Jan 19. (PMID: 25599223)

- Increased female autosomal burden of rare copy number variants in human populations and in autism familiesDesachy G, Croen LA, Torres AR, Kharrazi M, Delorenze GN, Windham GC, Yoshida CK, Weiss LA. Molecular psychiatry. 2015 Jan 13. (PMID: 25582617)

Synaptic, transcriptional and chromatin genes disrupted in autism, De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Ercument Cicek A, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Sean Hill R, Ionita-Laza I, Jimenez Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang LS, Weiss LA, Jeremy Willsey A, Yu TW, Yuen RK, Nature. 2014 Oct 29. (PMID: 25363760)

Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells, Bershteyn M, Hayashi Y, Desachy G, Hsiao EC, Sami S, Tsang KM, Weiss LA, Kriegstein AR, Yamanaka S, Wynshaw-Boris A, Nature. 2014 Mar 6 (PMID: 24413397)

- A genome-wide Survey of Transgenerational Genetic Effects in Autism, Tsang KM, Croen LA, Torres AR, Kharrazi M, Delorenze GN, Windham GC, Yoshida CK, Zerbo O, Weiss LA, Plos One. 2013 (PMID: 24204716)

- Autism traits in the RASopathies, Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, ROsser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA, Journal of Medical Genetics. 2013 (PMID: 24101678)

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs), Abraham BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A, Mol Autism. 2013  (PMID: 24090431)

- A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation, Martin PM, Yang X, Robin N, Lam E, Rabinowitx JS, Erdman CA, Quinn J, Weiss LA, Hamilton SP, Kwok PY, Moon RT, Chevette BN, Translational Psychiatry. 2013 (PMID: 24002087)

An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk, Cheng Y, Quinn JF, Weiss LA,  Human Molecular Genetics. 2013 (PMID: 23575222)

Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages, Chow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L, Fan JB, Murray S, April C, Belinson H, Fu XD, Wynshaw-Boris A, Schork NJ, Courchesne E, PLoS Genet. 2012 (PMID: 22457638)

A genome-wide linkage and association scan reveals novel loci for autismWeiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A, Gene Discovery Project of Johns Hopkins & the Autism Consortium,  Nature. 2009 (PMID: 19812673)

- Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans, Weiss LA, Expert Rev Mol Diagn. 2009 (PMID: 19895225)

- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders, Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL, J Med Genet. 2009 (PMID: 18805830)

- New insights into genomic variation in health and disease, Weiss LA, Genome Med. 2009 (PMID: 19435489)

- Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance, Blaya C, Moorjani P, Salum GA, Gonçalves L, Weiss LA, Leistner-Segal S, Manfro GG, Smoller JW, Neurosci Lett. 2009 (PMID: 19429002)

Association between microdeletion and microduplication at 16p11.2 and autism, Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ, N Engl J Med. 2008 (PMID: 18184952)

- Disruption of neurexin 1 associated with autism spectrum disorder, Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF, Am J Hum Genet. 2008 (PMID: 18179900)

- Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism, Cross S, Kim SJ, Weiss LA, Delahanty RJ, Sutcliffe JS, Leventhal BL, Cook EH Jr, Veenstra-Vanderweele J, Neuropsychopharmacology. 2008 (PMID: 17406648)

- Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome, Weiss LA, Purcell S, Waggoner S, Lawrence K, Spektor D, Daly MJ, Sklar P, Skuse D, Hum Mol Genet. 2007 (PMID: 17164267)

- Integrin beta 3 genotype influences asthma and allergy phenotypes in the first 6 years of life, Thompson EE, Pan L, Ostrovnaya I, Weiss LA, Gern JE, Lemanske RF Jr, Nicolae DL, Ober C, J Allergy Clin Immunol. 2007 (PMID: 17556058)

ITGB3 shows genetic and expression interaction with SLC6A4, Weiss LA, Ober C, Cook EH Jr, Hum Genet. 2006 (PMID: 16721604)

- The sex-specific genetic architecture of quantitative traits in humans, Weiss LA, Pan L, Abney M, Ober C, Nat Genet. 2006 (PMID: 16429159)

- Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility, Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook EH, Ober C, Sutcliffe JS, Eur J Hum Genet. 2006 (PMID: 16724005)

- Sex-specific genetic architecture of whole blood serotonin levels, Weiss LA, Abney M, Cook EH Jr, Ober C, Am J Hum Genet. 2005 (PMID: 15526234)

- Sex differences in the genetic basis of morning serum cortisol levels: genome-wide screen identifies two novel loci specific to women, Kurina LM, Weiss LA, Graves SW, Parry R, Williams GH, Abney M, Ober C,  J Clin Endocrinol Metab. 2005 (PMID: 15941864)

- Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample, Weiss LA, Abney M, Parry R, Scanu AM, Cook EH Jr, Ober C, Hum Genet. 2005 (PMID: 15834589)

Variation in ITGB3 is associated with asthma and sensitization to mold allergen in four populations, Weiss LA, Lester LA, Gern JE, Wolf RL, Parry R, Lemanske RF, Solway J, Ober C, Am J Respir Crit Care Med. 2005 (PMID: 15817799)

- Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin, Weiss LA, Veenstra-Vanderweele J, Newman DL, Kim SJ, Dytch H, McPeek MS, Cheng S, Ober C, Cook EH Jr, Abney M, Eur J Hum Genet. 2004 (PMID: 15292919)

- Sodium channels SCN1A, SCN2A and SCN3A in familial autism, Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH, Mol Psychiatry. 2003 (PMID: 12610651)