| Year |
Citation |
Score |
| 2022 |
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, ... ... Sutcliffe JS, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics. PMID 35982160 DOI: 10.1038/s41588-022-01104-0 |
0.352 |
|
| 2020 |
Veatch OJ, Butler MG, Elsea SH, Malow BA, Sutcliffe JS, Moore JH. An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. International Journal of Molecular Sciences. 21. PMID 33261099 DOI: 10.3390/ijms21239029 |
0.304 |
|
| 2020 |
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, ... ... Sutcliffe JS, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. PMID 31981491 DOI: 10.1016/J.Cell.2019.12.036 |
0.417 |
|
| 2019 |
Hope KA, Flatten D, Cavitch P, May B, Sutcliffe JS, O'Donnell J, Reiter LT. The Drosophila Gene Modulates Autism-Like Behaviors. Frontiers in Genetics. 10: 574. PMID 31316544 DOI: 10.3389/Fgene.2019.00574 |
0.413 |
|
| 2019 |
Wang Q, Chen R, Cheng F, Wei Q, Ji Y, Yang H, Zhong X, Tao R, Wen Z, Sutcliffe JS, Liu C, Cook EH, Cox NJ, Li B. A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data. Nature Neuroscience. PMID 30988527 DOI: 10.1038/S41593-019-0382-7 |
0.343 |
|
| 2019 |
Campbell NG, Shekar A, Aguilar JI, Peng D, Navratna V, Yang D, Morley AN, Duran AM, Galli G, O'Grady B, Ramachandran R, Sutcliffe JS, Sitte HH, Erreger K, Meiler J, et al. Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in . Proceedings of the National Academy of Sciences of the United States of America. PMID 30755521 DOI: 10.1073/Pnas.1816247116 |
0.354 |
|
| 2019 |
Soda T, Crowley J, Bruer E, Bershader R, Collier S, Gantz E, Hucks D, Johnston R, Maxwell-Horn A, Soto-Freita A, Sutcliffe J, Mathews C, Scharf J, Cox N, Davis L. Validation Of Electronic Health Record-Based Ascertainment Of Obsessive Compulsive Disorder Cases And Controls European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.376 |
0.321 |
|
| 2018 |
Montgomery AK, Shuffrey LC, Guter SJ, Anderson GM, Jacob S, Mosconi MW, Sweeney JA, Turner JB, Sutcliffe JS, Cook EH, Veenstra-VanderWeele J. Maternal Serotonin Levels Are Associated With Cognitive Ability and Core Symptoms in Autism Spectrum Disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 57: 867-875. PMID 30392628 DOI: 10.1016/J.Jaac.2018.06.025 |
0.326 |
|
| 2017 |
Dohn MR, Kooker CG, Bastarache L, Jessen T, Rinaldi C, Varney S, Mazalouskas MD, Pan H, Oliver KH, Velez Edwards DR, Sutcliffe JS, Denny JC, Carneiro AMD. The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 29038237 DOI: 10.1523/Jneurosci.1482-17.2017 |
0.354 |
|
| 2017 |
Shuffrey LC, Guter SJ, Delaney S, Jacob S, Anderson GM, Sutcliffe JS, Cook EH, Veenstra-VanderWeele J. Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? Autism Research : Official Journal of the International Society For Autism Research. PMID 28401654 DOI: 10.1002/Aur.1791 |
0.366 |
|
| 2017 |
Chen R, Davis LK, Guter S, Wei Q, Jacob S, Potter MH, Cox NJ, Cook EH, Sutcliffe JS, Li B. Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism. Molecular Autism. 8: 14. PMID 28344757 DOI: 10.1186/S13229-017-0130-3 |
0.405 |
|
| 2017 |
Stephenson JR, Wang X, Perfitt TL, Parrish WP, Shonesy BC, Marks CR, Mortlock DP, Nakagawa T, Sutcliffe JS, Colbran RJ. A novel human CAMK2A mutation disrupts dendritic morphology and synaptic transmission, and causes ASD-related behaviors. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 28130356 DOI: 10.1523/Jneurosci.2068-16.2017 |
0.316 |
|
| 2017 |
Montgomery AK, Shuffrey LC, Guter SJ, Anderson GM, Jacob S, Sutcliffe JS, Turner JB, Cook EH, Veenstra-VanderWeele J. 4.12 Maternal Whole Blood Serotonin Levels Predict Verbal Ability and Core Symptoms in Children With Autism Spectrum Disorder Journal of the American Academy of Child & Adolescent Psychiatry. 56: S232. DOI: 10.1016/J.Jaac.2017.09.228 |
0.305 |
|
| 2016 |
Yan Q, Chen R, Sutcliffe JS, Cook EH, Weeks DE, Li B, Chen W. The impact of genotype calling errors on family-based studies. Scientific Reports. 6: 28323. PMID 27328765 DOI: 10.1038/Srep28323 |
0.321 |
|
| 2015 |
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Sutcliffe JS, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016 |
0.484 |
|
| 2015 |
Cartier E, Hamilton PJ, Belovich AN, Shekar A, Campbell NG, Saunders C, Andreassen TF, Gether U, Veenstra-Vanderweele J, Sutcliffe JS, Ulery-Reynolds PG, Erreger K, Matthies HJ, Galli A. Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors. Ebiomedicine. 2: 135-146. PMID 25774383 DOI: 10.1016/J.Ebiom.2015.01.007 |
0.307 |
|
| 2015 |
Hamilton PJ, Shekar A, Belovich AN, Christianson NB, Campbell NG, Sutcliffe JS, Galli A, Matthies HJ, Erreger K. Zn(2+) reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder. Molecular Autism. 6: 8. PMID 25741436 DOI: 10.1186/S13229-015-0002-7 |
0.382 |
|
| 2015 |
Mazalouskas M, Jessen T, Varney S, Sutcliffe JS, Veenstra-VanderWeele J, Cook EH, Carneiro AM. Integrin β3 Haploinsufficiency Modulates Serotonin Transport and Antidepressant-Sensitive Behavior in Mice. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 40: 2015-24. PMID 25684064 DOI: 10.1038/Npp.2015.51 |
0.344 |
|
| 2015 |
Bacchelli E, Battaglia A, Cameli C, Lomartire S, Tancredi R, Thomson S, Sutcliffe JS, Maestrini E. Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. American Journal of Medical Genetics. Part A. 167: 715-23. PMID 25655306 DOI: 10.1002/Ajmg.A.36847 |
0.466 |
|
| 2015 |
Chen R, Wei Q, Zhan X, Zhong X, Sutcliffe JS, Cox NJ, Cook EH, Li C, Chen W, Li B. A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis. Bioinformatics (Oxford, England). 31: 1452-9. PMID 25568282 DOI: 10.1093/Bioinformatics/Btu860 |
0.384 |
|
| 2015 |
Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, ... ... Sutcliffe JS, et al. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry. 77: 775-84. PMID 25534755 DOI: 10.1016/J.Biopsych.2014.09.017 |
0.429 |
|
| 2015 |
Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, et al. Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. Human Genetics. 134: 191-201. PMID 25432440 DOI: 10.1007/S00439-014-1513-6 |
0.476 |
|
| 2014 |
Buxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Nurnberger JI, Oliveira G, ... ... Sutcliffe JS, et al. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Molecular Autism. 5: 34. PMID 25392729 DOI: 10.1186/2040-2392-5-34 |
0.363 |
|
| 2014 |
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, ... ... Sutcliffe JS, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/Nature13772 |
0.372 |
|
| 2014 |
Bowton E, Saunders C, Reddy IA, Campbell NG, Hamilton PJ, Henry LK, Coon H, Sakrikar D, Veenstra-VanderWeele JM, Blakely RD, Sutcliffe J, Matthies HJ, Erreger K, Galli A. SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. Translational Psychiatry. 4: e464. PMID 25313507 DOI: 10.1038/Tp.2014.90 |
0.349 |
|
| 2014 |
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, ... ... Sutcliffe JS, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 46: 944-50. PMID 25086666 DOI: 10.1038/Ng.3050 |
0.354 |
|
| 2014 |
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, ... ... Sutcliffe JS, et al. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Research : Official Journal of the International Society For Autism Research. 7: 355-62. PMID 24821083 DOI: 10.1002/Aur.1378 |
0.468 |
|
| 2014 |
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, ... ... Sutcliffe JS, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American Journal of Human Genetics. 94: 677-94. PMID 24768552 DOI: 10.1016/J.Ajhg.2014.03.018 |
0.467 |
|
| 2013 |
Hamilton PJ, Campbell NG, Sharma S, Erreger K, Hansen FH, Saunders C, Belovich AN, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. Drosophila melanogaster: a novel animal model for the behavioral characterization of autism-associated mutations in the dopamine transporter gene. Molecular Psychiatry. 18: 1235. PMID 24253181 DOI: 10.1038/Mp.2013.157 |
0.319 |
|
| 2013 |
Kerr TM, Muller CL, Miah M, Jetter CS, Pfeiffer R, Shah C, Baganz N, Anderson GM, Crawley JN, Sutcliffe JS, Blakely RD, Veenstra-Vanderweele J. Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice. Molecular Autism. 4: 35. PMID 24083388 DOI: 10.1186/2040-2392-4-35 |
0.395 |
|
| 2013 |
He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. Plos Genetics. 9: e1003671. PMID 23966865 DOI: 10.1371/Journal.Pgen.1003671 |
0.417 |
|
| 2013 |
Campbell NG, Zhu CB, Lindler KM, Yaspan BL, Kistner-Griffin E, Hewlett WA, Tate CG, Blakely RD, Sutcliffe JS. Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. Molecular Autism. 4: 28. PMID 23953133 DOI: 10.1186/2040-2392-4-28 |
0.408 |
|
| 2013 |
Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Sutcliffe JS, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.597 |
|
| 2013 |
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, ... ... Sutcliffe JS, et al. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biological Psychiatry. 74: 576-84. PMID 23746936 DOI: 10.1016/J.Biopsych.2013.04.018 |
0.388 |
|
| 2013 |
Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, ... ... Sutcliffe JS, et al. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. Plos Genetics. 9: e1003443. PMID 23593035 DOI: 10.1371/Journal.Pgen.1003443 |
0.395 |
|
| 2013 |
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, ... ... Sutcliffe JS, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/J.Neuron.2012.12.029 |
0.467 |
|
| 2012 |
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, ... ... Sutcliffe JS, et al. Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism. 3: 9. PMID 23067556 DOI: 10.1186/2040-2392-3-9 |
0.454 |
|
| 2012 |
Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, ... ... Sutcliffe JS, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Molecular Genetics. 21: 4781-92. PMID 22843504 DOI: 10.1093/Hmg/Dds301 |
0.444 |
|
| 2012 |
Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ. Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci. Molecular Autism. 3: 3. PMID 22591576 DOI: 10.1186/2040-2392-3-3 |
0.434 |
|
| 2012 |
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, ... ... Sutcliffe JS, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proceedings of the National Academy of Sciences of the United States of America. 109: 7974-81. PMID 22566635 DOI: 10.1073/Pnas.1120210109 |
0.405 |
|
| 2012 |
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, ... ... Sutcliffe JS, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 485: 242-5. PMID 22495311 DOI: 10.1038/Nature11011 |
0.408 |
|
| 2012 |
Veenstra-VanderWeele J, Muller CL, Iwamoto H, Sauer JE, Owens WA, Shah CR, Cohen J, Mannangatti P, Jessen T, Thompson BJ, Ye R, Kerr TM, Carneiro AM, Crawley JN, Sanders-Bush E, ... ... Sutcliffe JS, et al. Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior. Proceedings of the National Academy of Sciences of the United States of America. 109: 5469-74. PMID 22431635 DOI: 10.1073/Pnas.1112345109 |
0.346 |
|
| 2012 |
Lord C, Petkova E, Hus V, Gan W, Lu F, Martin DM, Ousley O, Guy L, Bernier R, Gerdts J, Algermissen M, Whitaker A, Sutcliffe JS, Warren Z, Klin A, et al. A multisite study of the clinical diagnosis of different autism spectrum disorders. Archives of General Psychiatry. 69: 306-13. PMID 22065253 DOI: 10.1001/Archgenpsychiatry.2011.148 |
0.338 |
|
| 2012 |
Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, ... ... Sutcliffe JS, et al. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human Genetics. 131: 565-79. PMID 21996756 DOI: 10.1007/S00439-011-1094-6 |
0.497 |
|
| 2012 |
Warren Z, Vehorn A, Dohrmann E, Nicholson A, Sutcliffe JS, Veenstra-Vanderweele J. Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping "rapidly"? Autism Research : Official Journal of the International Society For Autism Research. 5: 31-8. PMID 21972233 DOI: 10.1002/Aur.230 |
0.365 |
|
| 2011 |
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, et al. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics. 20: 4360-70. PMID 21865298 DOI: 10.1093/Hmg/Ddr363 |
0.457 |
|
| 2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, ... ... Sutcliffe JS, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.517 |
|
| 2011 |
Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. European Journal of Human Genetics : Ejhg. 19: 1082-9. PMID 21522181 DOI: 10.1038/Ejhg.2011.75 |
0.43 |
|
| 2011 |
Campbell DB, Datta D, Jones ST, Batey Lee E, Sutcliffe JS, Hammock EA, Levitt P. Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. Journal of Neurodevelopmental Disorders. 3: 101-12. PMID 21484202 DOI: 10.1007/S11689-010-9071-2 |
0.473 |
|
| 2011 |
Vieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P. Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. Journal of Neurodevelopmental Disorders. 3: 113-23. PMID 21484201 DOI: 10.1007/S11689-011-9072-9 |
0.495 |
|
| 2011 |
Kistner-Griffin E, Brune CW, Davis LK, Sutcliffe JS, Cox NJ, Cook EH. Parent-of-origin effects of the serotonin transporter gene associated with autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 139-44. PMID 21302342 DOI: 10.1002/Ajmg.B.31146 |
0.436 |
|
| 2011 |
Yaspan BL, Bush WS, Torstenson ES, Ma D, Pericak-Vance MA, Ritchie MD, Sutcliffe JS, Haines JL. Genetic analysis of biological pathway data through genomic randomization. Human Genetics. 129: 563-71. PMID 21279722 DOI: 10.1007/S00439-011-0956-2 |
0.383 |
|
| 2011 |
Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, et al. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. Journal of Medical Genetics. 48: 48-54. PMID 20972252 DOI: 10.1136/Jmg.2010.079426 |
0.527 |
|
| 2011 |
Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH, Macdonald RL, Sutcliffe JS. Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism. Molecular Psychiatry. 16: 86-96. PMID 19935738 DOI: 10.1038/Mp.2009.118 |
0.743 |
|
| 2010 |
Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, ... ... Sutcliffe JS, et al. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19: 4072-82. PMID 20663923 DOI: 10.1093/Hmg/Ddq307 |
0.46 |
|
| 2010 |
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, ... ... Sutcliffe JS, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/Nature09146 |
0.463 |
|
| 2010 |
Campbell DB, Warren D, Sutcliffe JS, Lee EB, Levitt P. Association of MET with social and communication phenotypes in individuals with autism spectrum disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 438-46. PMID 19548256 DOI: 10.1002/Ajmg.B.30998 |
0.432 |
|
| 2009 |
Veenstra-Vanderweele J, Jessen TN, Thompson BJ, Carter M, Prasad HC, Steiner JA, Sutcliffe JS, Blakely RD. Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse. Journal of Neurodevelopmental Disorders. 1: 158-71. PMID 19960097 DOI: 10.1007/S11689-009-9020-0 |
0.405 |
|
| 2009 |
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, ... ... Sutcliffe JS, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics. 41: 1223-7. PMID 19855392 DOI: 10.1038/Ng.474 |
0.349 |
|
| 2009 |
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, ... ... Sutcliffe JS, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. Plos Genetics. 5: e1000536. PMID 19557195 DOI: 10.1371/Journal.Pgen.1000536 |
0.518 |
|
| 2009 |
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, ... ... Sutcliffe JS, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 459: 569-73. PMID 19404257 DOI: 10.1038/Nature07953 |
0.476 |
|
| 2009 |
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, ... ... Sutcliffe JS, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 459: 528-33. PMID 19404256 DOI: 10.1038/Nature07999 |
0.463 |
|
| 2009 |
Campbell DB, Buie TM, Winter H, Bauman M, Sutcliffe JS, Perrin JM, Levitt P. Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions. Pediatrics. 123: 1018-24. PMID 19255034 DOI: 10.1542/Peds.2008-0819 |
0.435 |
|
| 2009 |
Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, et al. Association and mutation analyses of 16p11.2 autism candidate genes. Plos One. 4: e4582. PMID 19242545 DOI: 10.1371/Journal.Pone.0004582 |
0.497 |
|
| 2009 |
Prasad HC, Steiner JA, Sutcliffe JS, Blakely RD. Enhanced activity of human serotonin transporter variants associated with autism. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 364: 163-73. PMID 18957375 DOI: 10.1098/Rstb.2008.0143 |
0.39 |
|
| 2009 |
Conroy J, Cochrane L, Anney RJ, Sutcliffe JS, Carthy P, Dunlop A, Mullarkey M, O'hici B, Green AJ, Ennis S, Gill M, Gallagher L. Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 535-44. PMID 18846500 DOI: 10.1002/Ajmg.B.30854 |
0.509 |
|
| 2008 |
Sutcliffe JS. Heterogeneity and the design of genetic studies in autism. Autism Research : Official Journal of the International Society For Autism Research. 1: 205-6. PMID 19360669 DOI: 10.1002/Aur.37 |
0.332 |
|
| 2008 |
Campbell DB, Li C, Sutcliffe JS, Persico AM, Levitt P. Genetic evidence implicating multiple genes in the met receptor tyrosine kinase pathway in autism spectrum disorder Autism Research. 1: 159-168. PMID 19360663 DOI: 10.1002/Aur.27 |
0.451 |
|
| 2008 |
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, ... ... Sutcliffe JS, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/Nejmoa0805384 |
0.428 |
|
| 2008 |
Sutcliffe JS. Genetics. Insights into the pathogenesis of autism. Science (New York, N.Y.). 321: 208-9. PMID 18621658 DOI: 10.1126/Science.1160555 |
0.44 |
|
| 2008 |
Cross S, Kim SJ, Weiss LA, Delahanty RJ, Sutcliffe JS, Leventhal BL, Cook EH, Veenstra-Vanderweele J. Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 33: 353-60. PMID 17406648 DOI: 10.1038/Sj.Npp.1301406 |
0.681 |
|
| 2007 |
Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Contribution of SHANK3 mutations to autism spectrum disorder. American Journal of Human Genetics. 81: 1289-97. PMID 17999366 DOI: 10.1086/522590 |
0.411 |
|
| 2007 |
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, ... ... Sutcliffe JS, et al. Strong association of de novo copy number mutations with autism. Science (New York, N.Y.). 316: 445-9. PMID 17363630 DOI: 10.1126/Science.1138659 |
0.443 |
|
| 2007 |
Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, ... ... Sutcliffe JS, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39: 319-28. PMID 17322880 DOI: 10.1038/Ng1985 |
0.51 |
|
| 2006 |
Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, Elia M, Schneider C, Melmed R, Sacco R, Persico AM, Levitt P. A genetic variant that disrupts MET transcription is associated with autism Proceedings of the National Academy of Sciences of the United States of America. 103: 16834-16839. PMID 17053076 DOI: 10.1073/Pnas.0605296103 |
0.512 |
|
| 2006 |
Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook EH, Ober C, Sutcliffe JS. Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility. European Journal of Human Genetics : Ejhg. 14: 923-31. PMID 16724005 DOI: 10.1038/Sj.Ejhg.5201644 |
0.717 |
|
| 2006 |
Rabionet R, McCauley JL, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, DeLong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Lack of association between autism and SLC25A12. The American Journal of Psychiatry. 163: 929-31. PMID 16648338 DOI: 10.1176/Ajp.2006.163.5.929 |
0.671 |
|
| 2006 |
Ma S, Abou-Khalil B, Blair MA, Sutcliffe JS, Haines JL, Hedera P. Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. Neuroscience Letters. 394: 74-8. PMID 16256272 DOI: 10.1016/J.Neulet.2005.10.006 |
0.302 |
|
| 2006 |
Sebat J, Lakshmi B, Troge J, Martin C, Spence S, Ledbetter D, Gilliam TC, Ye K, Geschwind D, Sutcliffe J, Wigler MH. High-resolution analysis of genome copy number variation in autism International Journal of Developmental Neuroscience. 24: 474. DOI: 10.1016/J.Ijdevneu.2006.09.013 |
0.315 |
|
| 2005 |
Prasad HC, Zhu CB, McCauley JL, Samuvel DJ, Ramamoorthy S, Shelton RC, Hewlett WA, Sutcliffe JS, Blakely RD. Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase. Proceedings of the National Academy of Sciences of the United States of America. 102: 11545-50. PMID 16055563 DOI: 10.1073/Pnas.0501432102 |
0.548 |
|
| 2005 |
Sutcliffe JS, Delahanty RJ, Prasad HC, McCauley JL, Han Q, Jiang L, Li C, Folstein SE, Blakely RD. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. American Journal of Human Genetics. 77: 265-79. PMID 15995945 DOI: 10.1086/432648 |
0.799 |
|
| 2005 |
Ma S, Abou-Khalil B, Sutcliffe JS, Haines JL, Hedera P. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. Bmc Medical Genetics. 6: 13. PMID 15799783 DOI: 10.1186/1471-2350-6-13 |
0.324 |
|
| 2005 |
McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, Folstein SE, Haines JL, Sutcliffe JS. Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. Bmc Medical Genetics. 6: 1. PMID 15647115 DOI: 10.1186/1471-2350-6-1 |
0.642 |
|
| 2005 |
Skaar DA, Shao Y, Haines JL, Stenger JE, Jaworski J, Martin ER, DeLong GR, Moore JH, McCauley JL, Sutcliffe JS, Ashley-Koch AE, Cuccaro ML, Folstein SE, Gilbert JR, Pericak-Vance MA. Analysis of the RELN gene as a genetic risk factor for autism. Molecular Psychiatry. 10: 563-71. PMID 15558079 DOI: 10.1038/Sj.Mp.4001614 |
0.68 |
|
| 2004 |
Dykens EM, Sutcliffe JS, Levitt P. Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues. Mental Retardation and Developmental Disabilities Research Reviews. 10: 284-91. PMID 15666333 DOI: 10.1002/Mrdd.20042 |
0.482 |
|
| 2004 |
Rabionet R, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes. Neuroscience Letters. 372: 209-14. PMID 15542242 DOI: 10.1016/J.Neulet.2004.09.037 |
0.531 |
|
| 2004 |
McCauley JL, Olson LM, Delahanty R, Amin T, Nurmi EL, Organ EL, Jacobs MM, Folstein SE, Haines JL, Sutcliffe JS. A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 131: 51-9. PMID 15389768 DOI: 10.1002/Ajmg.B.30038 |
0.79 |
|
| 2004 |
Hutcheson HB, Olson LM, Bradford Y, Folstein SE, Santangelo SL, Sutcliffe JS, Haines JL. Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes. Bmc Medical Genetics. 5: 12. PMID 15128462 DOI: 10.1186/1471-2350-5-12 |
0.538 |
|
| 2004 |
McCauley JL, Olson LM, Dowd M, Amin T, Steele A, Blakely RD, Folstein SE, Haines JL, Sutcliffe JS. Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 127: 104-12. PMID 15108191 DOI: 10.1002/Ajmg.B.20151 |
0.682 |
|
| 2004 |
Hedera P, Abou-Khalil B, Crunk AE, Taylor KA, Haines JL, Sutcliffe JS. Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. Epilepsia. 45: 218-22. PMID 15009222 DOI: 10.1111/J.0013-9580.2004.47203.X |
0.334 |
|
| 2003 |
Nurmi EL, Amin T, Olson LM, Jacobs MM, McCauley JL, Lam AY, Organ EL, Folstein SE, Haines JL, Sutcliffe JS. Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism. Molecular Psychiatry. 8: 624-34, 570. PMID 12851639 DOI: 10.1038/Sj.Mp.4001283 |
0.788 |
|
| 2003 |
Nurmi EL, Dowd M, Tadevosyan-Leyfer O, Haines JL, Folstein SE, Sutcliffe JS. Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13. Journal of the American Academy of Child and Adolescent Psychiatry. 42: 856-63. PMID 12819446 DOI: 10.1097/01.Chi.0000046868.56865.0F |
0.711 |
|
| 2003 |
Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures. Bmc Genomics. 4: 15. PMID 12720574 DOI: 10.1186/1471-2164-4-15 |
0.712 |
|
| 2003 |
Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS, Haines JL. Defining the autism minimum candidate gene region on chromosome 7. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 117: 90-6. PMID 12555242 DOI: 10.1002/Ajmg.B.10033 |
0.499 |
|
| 2003 |
Sutcliffe JS, Nurmi EL, Lombroso PJ. Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism. Journal of the American Academy of Child and Adolescent Psychiatry. 42: 253-6. PMID 12544187 DOI: 10.1097/00004583-200302000-00021 |
0.732 |
|
| 2003 |
Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T. 'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation. Clinical Genetics. 63: 79-81. PMID 12519378 DOI: 10.1034/J.1399-0004.2003.630114.X |
0.677 |
|
| 2003 |
Nurmi EL, Amin T, Olson LM, Jacob MM, McCauley JL, Lam AY, Organ EL, Folstein SE, Haines JL, Sutcliffe JS. Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism Molecular Psychiatry. 8: 570. DOI: 10.1038/sj.mp.4001361 |
0.731 |
|
| 2001 |
Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation Neurology. 57: 2265-2272. PMID 11756608 DOI: 10.1212/Wnl.57.12.2265 |
0.301 |
|
| 2001 |
Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, ... ... Sutcliffe JS, et al. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics. 77: 105-13. PMID 11543639 DOI: 10.1006/Geno.2001.6617 |
0.753 |
|
| 2001 |
Joseph B, Egli M, Sutcliffe JS, Thompson T. Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome American Journal of Medical Genetics - Neuropsychiatric Genetics. 105: 71-75. PMID 11425004 DOI: 10.1002/1096-8628(20010108)105:1<71::Aid-Ajmg1065>3.0.Co;2-8 |
0.355 |
|
| 2000 |
Dimitropoulos A, Fearer ID, Roof E, Stone W, Butler MG, Sutcliffe J, Thompson T. Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome Mental Retardation and Developmental Disabilities Research Reviews. 6: 125-130. PMID 10899805 DOI: 10.1002/1098-2779(2000)6:2<125::Aid-Mrdd6>3.0.Co;2-T |
0.35 |
|
| 1999 |
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM, Beuten J, Willems PJ, Ledbetter DH, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Human Molecular Genetics. 8: 129-35. PMID 9887341 DOI: 10.1093/Hmg/8.1.129 |
0.39 |
|
| 1998 |
Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Research. 8: 146-57. PMID 9477342 DOI: 10.1101/Gr.8.2.146 |
0.444 |
|
| 1997 |
Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nature Genetics. 17: 75-8. PMID 9288101 DOI: 10.1038/Ng0997-75 |
0.423 |
|
| 1997 |
Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Research. 7: 642-8. PMID 9199937 DOI: 10.1101/Gr.7.6.642 |
0.365 |
|
| 1997 |
Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Research. 7: 368-77. PMID 9110176 DOI: 10.1101/Gr.7.4.368 |
0.448 |
|
| 1997 |
Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics. 15: 74-7. PMID 8988172 DOI: 10.1038/Ng0197-74 |
0.431 |
|
| 1996 |
Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. American Journal of Medical Genetics. 66: 77-80. PMID 8957518 DOI: 10.1002/(Sici)1096-8628(19961202)66:1<77::Aid-Ajmg18>3.0.Co;2-N |
0.391 |
|
| 1996 |
Ning Y, Roschke A, Christian SL, Lesser J, Sutcliffe JS, Ledbetter DH. Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region Genome Research. 6: 742-746. PMID 8858349 DOI: 10.1101/Gr.6.8.742 |
0.341 |
|
| 1996 |
Jinno Y, Sengoku K, Nakao M, Tamate K, Miyamoto T, Matsuzaka T, Sutcliffe JS, Anan T, Takuma N, Nishiwaki K, Ikeda Y, Ishimaru T, Ishikawa M, Niikawa N. Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus Human Molecular Genetics. 5: 1155-1161. PMID 8842735 DOI: 10.1093/Hmg/5.8.1155 |
0.322 |
|
| 1996 |
Nakao M, Sutcliffe JS, Beaudet AL. Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphisms. Human Mutation. 7: 144-8. PMID 8829631 DOI: 10.1002/(Sici)1098-1004(1996)7:2<144::Aid-Humu8>3.0.Co;2-C |
0.356 |
|
| 1996 |
Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Angelman syndrome in an inbred family. Human Genetics. 97: 294-8. PMID 8786067 DOI: 10.1007/Bf02185757 |
0.445 |
|
| 1996 |
Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ. Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. American Journal of Medical Genetics. 63: 414-5. PMID 8725798 DOI: 10.1002/Ajmg.1320630206 |
0.432 |
|
| 1996 |
Ledbetter DH, Christian SL, Kubota T, Mutirangura A, Sutcliffe JS, Nakao M, Beaudet AL. Dosage and imprinting effects in abnormalities of human chromosome 15 Acta Geneticae Medicae Et Gemellologiae. 45: 83. DOI: 10.1017/S0001566000001136 |
0.347 |
|
| 1995 |
Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC. Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes & Development. 9: 808-20. PMID 7705658 DOI: 10.1101/Gad.9.7.808 |
0.419 |
|
| 1994 |
Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Human Molecular Genetics. 3: 309-15. PMID 8004100 DOI: 10.1093/Hmg/3.2.309 |
0.388 |
|
| 1994 |
Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genetics. 8: 52-8. PMID 7987392 DOI: 10.1038/Ng0994-52 |
0.417 |
|
| 1993 |
Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nature Genetics. 3: 36-43. PMID 8490651 DOI: 10.1038/Ng0193-36 |
0.565 |
|
| 1993 |
Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, Nelson DL, Warren ST. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nature Genetics. 4: 244-51. PMID 8358432 DOI: 10.1038/Ng0793-244 |
0.57 |
|
| 1993 |
Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 18: 546-52. PMID 8307564 DOI: 10.1016/S0888-7543(11)80011-X |
0.437 |
|
| 1993 |
Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M. Erratum: Corrigendum: Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome Nature Genetics. 5: 312-312. DOI: 10.1038/Ng1193-312B |
0.536 |
|
| 1992 |
Riggins GJ, Sherman SL, Oostra BA, Sutcliffe JS, Feitell D, Nelson DL, Van Oost BA, Smits APT, Ramos FJ, Pfendner E, Kuhl DPA, Caskey CT, Warren ST. Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site American Journal of Medical Genetics. 43: 237-243. PMID 1605197 DOI: 10.1002/Ajmg.1320430138 |
0.691 |
|
| 1992 |
Sutcliffe JS, Zhang F, Caskey CT, Nelson DL, Warren ST. PCR amplification and analysis of yeast artificial chromosomes. Genomics. 13: 1303-6. PMID 1380485 DOI: 10.1016/0888-7543(92)90051-S |
0.571 |
|
| 1992 |
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST. DNA methylation represses FMR-1 transcription in fragile X syndrome. Human Molecular Genetics. 1: 397-400. PMID 1301913 DOI: 10.1093/hmg/1.6.397 |
0.546 |
|
| 1991 |
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG, Warren ST. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 67: 1047-58. PMID 1760838 DOI: 10.1016/0092-8674(91)90283-5 |
0.606 |
|
| 1991 |
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 65: 905-14. PMID 1710175 DOI: 10.1016/0092-8674(91)90397-H |
0.392 |
|
| 1988 |
Warren ST, Zhang F, Sutcliffe JS, Peters JF. Strategy for molecular cloning of the fragile X site DNA American Journal of Medical Genetics. 30: 613-623. PMID 3177473 DOI: 10.1002/Ajmg.1320300162 |
0.576 |
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