| Year |
Citation |
Score |
| 2023 |
Doust C, Fontanillas P, Eising E, Gordon SD, Wang Z, Alagöz G, Molz B, Pourcain BS, Francks C, Marioni RE, Zhao J, Paracchini S, Talcott JB, Monaco AP, Stein JF, et al. Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia. Nature Genetics. PMID 36823321 DOI: 10.1038/s41588-023-01336-8 |
0.715 |
|
| 2022 |
Doust C, Fontanillas P, Eising E, Gordon SD, Wang Z, Alagöz G, Molz B, Pourcain BS, Francks C, Marioni RE, Zhao J, Paracchini S, Talcott JB, Monaco AP, Stein JF, et al. Discovery of 42 genome-wide significant loci associated with dyslexia. Nature Genetics. PMID 36266505 DOI: 10.1038/s41588-022-01192-y |
0.751 |
|
| 2022 |
Eising E, Mirza-Schreiber N, de Zeeuw EL, Wang CA, Truong DT, Allegrini AG, Shapland CY, Zhu G, Wigg KG, Gerritse ML, Molz B, Alagöz G, Gialluisi A, Abbondanza F, Rimfeld K, ... ... Monaco AP, et al. Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people. Proceedings of the National Academy of Sciences of the United States of America. 119: e2202764119. PMID 35998220 DOI: 10.1073/pnas.2202764119 |
0.748 |
|
| 2022 |
Perrino PA, Chasse RY, Monaco AP, Molnár Z, Velayos-Baeza A, Fitch RH. Rapid auditory processing and medial geniculate nucleus anomalies in Kiaa0319 knockout mice. Genes, Brain, and Behavior. e12808. PMID 35419947 DOI: 10.1111/gbb.12808 |
0.69 |
|
| 2020 |
Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, Pourcain BS, Honbolygó F, Tóth D, Csépe V, Huguet G, Chaix Y, Iannuzzi S, ... ... Monaco AP, et al. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. Molecular Psychiatry. PMID 33057169 DOI: 10.1038/s41380-020-00898-x |
0.753 |
|
| 2020 |
Monaco AP. An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults. European Journal of Human Genetics : Ejhg. PMID 32948849 DOI: 10.1038/S41431-020-00726-4 |
0.308 |
|
| 2019 |
Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, St Pourcain B, Brandler W, Honbolygó F, Tóth D, Csépe V, Huguet G, Morris AP, ... ... Monaco AP, et al. Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. Translational Psychiatry. 9: 77. PMID 30741946 DOI: 10.1038/S41398-019-0402-0 |
0.766 |
|
| 2019 |
Yeshaw WM, van der Zwaag M, Pinto F, Lahaye LL, Faber AI, Gómez-Sánchez R, Dolga AM, Poland C, Monaco AP, van IJzendoorn S, Grzeschik NA, Velayos-Baeza A, Sibon OC. Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility. Elife. 8. PMID 30741634 DOI: 10.7554/Elife.43561 |
0.688 |
|
| 2019 |
Yeshaw WM, Zwaag Mvd, Pinto F, Lahaye LL, Faber AI, Gómez-Sánchez R, Dolga AM, Poland C, Monaco AP, IJzendoorn SCv, Grzeschik NA, Velayos-Baeza A, Sibon OC. Author response: Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility Elife. DOI: 10.7554/Elife.43561.038 |
0.678 |
|
| 2018 |
Guidi LG, Velayos-Baeza A, Martinez-Garay I, Monaco AP, Paracchini S, Bishop DVM, Molnár Z. The Neuronal Migration Hypothesis of Dyslexia: A Critical Evaluation Thirty Years On. The European Journal of Neuroscience. PMID 30218584 DOI: 10.1111/Ejn.14149 |
0.787 |
|
| 2018 |
Guidi LG, Holloway ZG, Arnoult C, Ray PF, Monaco AP, Molnár Z, Velayos-Baeza A. AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. Scientific Reports. 8: 10379. PMID 29991750 DOI: 10.1038/S41598-018-28666-6 |
0.716 |
|
| 2017 |
Guidi LG, Mattley J, Martinez-Garay I, Monaco AP, Linden JF, Velayos-Baeza A, Molnár Z. Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing. Cerebral Cortex (New York, N.Y. : 1991). 1-15. PMID 29045729 DOI: 10.1093/Cercor/Bhx269 |
0.717 |
|
| 2017 |
Scerri TS, Macpherson E, Martinelli A, Wa WC, Monaco AP, Stein J, Zheng M, Suk-Han Ho C, McBride C, Snowling M, Hulme C, Hayiou-Thomas ME, Waye MMY, Talcott JB, Paracchini S. The DCDC2 deletion is not a risk factor for dyslexia. Translational Psychiatry. 7: e1182. PMID 28742079 DOI: 10.1038/Tp.2017.151 |
0.655 |
|
| 2017 |
Franquinho F, Nogueira-Rodrigues J, Duarte JM, Esteves SS, Carter-Su C, Monaco AP, Molnár Z, Velayos-Baeza A, Brites P, Sousa MM. The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling. Cerebral Cortex (New York, N.Y. : 1991). 1-16. PMID 28334068 DOI: 10.1093/Cercor/Bhx023 |
0.675 |
|
| 2016 |
Martinez-Garay I, Guidi LG, Holloway ZG, Bailey MA, Lyngholm D, Schneider T, Donnison T, Butt SJ, Velayos-Baeza A, Molnár Z, Monaco AP. Normal radial migration and lamination are maintained in dyslexia-susceptibility candidate gene homolog Kiaa0319 knockout mice. Brain Structure & Function. PMID 27510895 DOI: 10.1007/S00429-016-1282-1 |
0.723 |
|
| 2016 |
Mehta ZB, Fine N, Pullen TJ, Cane MC, Hu M, Chabosseau P, Meur G, Velayos-Baeza A, Monaco AP, Marselli L, Marchetti P, Rutter GA. Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β cell are associated with glucose intolerance in humans and mice. American Journal of Physiology. Endocrinology and Metabolism. ajpendo.00074.2016. PMID 27329800 DOI: 10.1152/Ajpendo.00074.2016 |
0.709 |
|
| 2016 |
Pettigrew KA, Frinton E, Nudel R, Chan MT, Thompson P, Hayiou-Thomas ME, Talcott JB, Stein J, Monaco AP, Hulme C, Snowling MJ, Newbury DF, Paracchini S. Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes. Journal of Neurodevelopmental Disorders. 8: 24. PMID 27307794 DOI: 10.1186/S11689-016-9157-6 |
0.675 |
|
| 2016 |
Yang RY, Xue H, Yu L, Velayos-Baeza A, Monaco AP, Liu FT. Identification of VPS13C as a Galectin-12-Binding Protein That Regulates Galectin-12 Protein Stability and Adipogenesis. Plos One. 11: e0153534. PMID 27073999 DOI: 10.1371/Journal.Pone.0153534 |
0.689 |
|
| 2016 |
Shore R, Covill L, Pettigrew KA, Brandler WM, Diaz R, Xu Y, Tello JA, Talcott JB, Newbury DF, Stein J, Monaco AP, Paracchini S. The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts. Human Molecular Genetics. PMID 26908617 DOI: 10.1093/Hmg/Ddw047 |
0.666 |
|
| 2014 |
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, ... ... Monaco AP, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. Plos Genetics. 10: e1004580. PMID 25188300 DOI: 10.1371/Journal.Pgen.1004580 |
0.652 |
|
| 2014 |
Gialluisi A, Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler WM, Pennington BF, Smith SD, Scerri TS, Simpson NH, Luciano M, Evans DM, Bates TC, Stein JF, ... ... Monaco AP, et al. Genome-wide screening for DNA variants associated with reading and language traits. Genes, Brain, and Behavior. 13: 686-701. PMID 25065397 DOI: 10.1111/Gbb.12158 |
0.764 |
|
| 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, ... ... Monaco AP, 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 |
0.682 |
|
| 2014 |
Newbury DF, Monaco AP, Paracchini S. Reading and language disorders: the importance of both quantity and quality. Genes. 5: 285-309. PMID 24705331 DOI: 10.3390/Genes5020285 |
0.667 |
|
| 2014 |
Ceroni F, Sagar A, Simpson NH, Gawthrope AJ, Newbury DF, Pinto D, Francis SM, Tessman DC, Cook EH, Monaco AP, Maestrini E, Pagnamenta AT, Jacob S. A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. Autism Research : Official Journal of the International Society For Autism Research. 7: 254-63. PMID 24634087 DOI: 10.1002/Aur.1365 |
0.649 |
|
| 2014 |
Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER, Ring SM, Davey Smith G, Francks C, Paracchini S, Monaco AP, Fisher SE, Newbury DF. Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Genes, Brain, and Behavior. 13: 418-29. PMID 24571439 DOI: 10.1111/Gbb.12127 |
0.775 |
|
| 2014 |
Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER, Monaco AP, Knight JC, Winney B, Fisher SE, Newbury DF. Associations of HLA alleles with specific language impairment. Journal of Neurodevelopmental Disorders. 6: 1. PMID 24433325 DOI: 10.1186/1866-1955-6-1 |
0.628 |
|
| 2014 |
Becker J, Czamara D, Scerri TS, Ramus F, Csépe V, Talcott JB, Stein J, Morris A, Ludwig KU, Hoffmann P, Honbolygó F, Tóth D, Fauchereau F, Bogliotti C, Iannuzzi S, ... ... Monaco AP, et al. Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort. European Journal of Human Genetics : Ejhg. 22: 675-80. PMID 24022301 DOI: 10.1038/Ejhg.2013.199 |
0.676 |
|
| 2013 |
Brandler WM, Morris AP, Evans DM, Scerri TS, Kemp JP, Timpson NJ, St Pourcain B, Smith GD, Ring SM, Stein J, Monaco AP, Talcott JB, Fisher SE, Webber C, Paracchini S. Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. Plos Genetics. 9: e1003751. PMID 24068947 DOI: 10.1371/Journal.Pgen.1003751 |
0.762 |
|
| 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, ... ... Monaco AP, 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 |
0.636 |
|
| 2013 |
Holloway ZG, Velayos-Baeza A, Howell GJ, Levecque C, Ponnambalam S, Sztul E, Monaco AP. Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps. Molecular Biology of the Cell. 24: 1735-48, S1-8. PMID 23596324 DOI: 10.1091/Mbc.E12-08-0625 |
0.687 |
|
| 2013 |
Newbury DF, Mari F, Sadighi Akha E, Macdermot KD, Canitano R, Monaco AP, Taylor JC, Renieri A, Fisher SE, Knight SJ. Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. European Journal of Human Genetics : Ejhg. 21: 361-5. PMID 22909776 DOI: 10.1038/Ejhg.2012.166 |
0.639 |
|
| 2012 |
Scerri TS, Darki F, Newbury DF, Whitehouse AJ, Peyrard-Janvid M, Matsson H, Ang QW, Pennell CE, Ring S, Stein J, Morris AP, Monaco AP, Kere J, Talcott JB, Klingberg T, et al. The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure. Plos One. 7: e50321. PMID 23209710 DOI: 10.1371/Journal.Pone.0050321 |
0.661 |
|
| 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, ... ... Monaco AP, 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 |
0.671 |
|
| 2012 |
Holt R, Sykes NH, Conceição IC, Cazier JB, Anney RJ, Oliveira G, Gallagher L, Vicente A, Monaco AP, Pagnamenta AT. CNVs leading to fusion transcripts in individuals with autism spectrum disorder. European Journal of Human Genetics : Ejhg. 20: 1141-7. PMID 22549408 DOI: 10.1038/Ejhg.2012.73 |
0.371 |
|
| 2012 |
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, ... ... Monaco AP, et al. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Plos Genetics. 8: e1002521. PMID 22346768 DOI: 10.1371/Journal.Pgen.1002521 |
0.676 |
|
| 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, ... ... Monaco AP, 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 |
0.7 |
|
| 2012 |
Monaco AP, Lark Z, Lehrach H. Construction of yeast artificial chromosome libraries by pulsed-field gel electrophoresis. Methods in Molecular Biology (Clifton, N.J.). 12: 225-34. PMID 21409637 DOI: 10.1385/0-89603-229-9:225 |
0.321 |
|
| 2011 |
Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH. Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. Archives of Neurology. 68: 1330-3. PMID 21987550 DOI: 10.1001/Archneurol.2011.239 |
0.727 |
|
| 2011 |
Holt R, Monaco AP. Links between genetics and pathophysiology in the autism spectrum disorders. Embo Molecular Medicine. 3: 438-50. PMID 21805639 DOI: 10.1002/Emmm.201100157 |
0.36 |
|
| 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 |
0.413 |
|
| 2011 |
Pagnamenta AT, Holt R, Yusuf M, Pinto D, Wing K, Betancur C, Scherer SW, Volpi EV, Monaco AP. A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. Journal of Neurodevelopmental Disorders. 3: 124-31. PMID 21484199 DOI: 10.1007/S11689-011-9076-5 |
0.426 |
|
| 2011 |
Scerri TS, Morris AP, Buckingham LL, Newbury DF, Miller LL, Monaco AP, Bishop DV, Paracchini S. DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biological Psychiatry. 70: 237-45. PMID 21457949 DOI: 10.1016/J.Biopsych.2011.02.005 |
0.679 |
|
| 2011 |
Villanueva P, Newbury DF, Jara L, De Barbieri Z, Mirza G, Palomino HM, Fernández MA, Cazier JB, Monaco AP, Palomino H. Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population. European Journal of Human Genetics : Ejhg. 19: 687-95. PMID 21248734 DOI: 10.1038/Ejhg.2010.251 |
0.394 |
|
| 2011 |
Newbury DF, Paracchini S, Scerri TS, Winchester L, Addis L, Richardson AJ, Walter J, Stein JF, Talcott JB, Monaco AP. Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behavior Genetics. 41: 90-104. PMID 21165691 DOI: 10.1007/S10519-010-9424-3 |
0.676 |
|
| 2011 |
Scerri TS, Brandler WM, Paracchini S, Morris AP, Ring SM, Richardson AJ, Talcott JB, Stein J, Monaco AP. PCSK6 is associated with handedness in individuals with dyslexia. Human Molecular Genetics. 20: 608-14. PMID 21051773 DOI: 10.1093/Hmg/Ddq475 |
0.659 |
|
| 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, ... ... Monaco AP, 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 |
0.421 |
|
| 2011 |
Paracchini S, Ang QW, Stanley FJ, Monaco AP, Pennell CE, Whitehouse AJ. Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population. Genes, Brain, and Behavior. 10: 158-65. PMID 20846247 DOI: 10.1111/J.1601-183X.2010.00651.X |
0.67 |
|
| 2010 |
Paracchini S, Monaco AP, Knight JC. An allele-specific gene expression assay to test the functional basis of genetic associations. Journal of Visualized Experiments : Jove. PMID 21085102 DOI: 10.3791/2279 |
0.663 |
|
| 2010 |
Scerri TS, Paracchini S, Morris A, MacPhie IL, Talcott J, Stein J, Smith SD, Pennington BF, Olson RK, DeFries JC, Monaco AP, Richardson AJ. Identification of candidate genes for dyslexia susceptibility on chromosome 18. Plos One. 5: e13712. PMID 21060895 DOI: 10.1371/Journal.Pone.0013712 |
0.702 |
|
| 2010 |
Newbury DF, Monaco AP. Genetic advances in the study of speech and language disorders. Neuron. 68: 309-20. PMID 20955937 DOI: 10.1016/J.Neuron.2010.10.001 |
0.34 |
|
| 2010 |
Velayos-Baeza A, Levecque C, Kobayashi K, Holloway ZG, Monaco AP. The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage. The Journal of Biological Chemistry. 285: 40148-62. PMID 20943657 DOI: 10.1074/Jbc.M110.145961 |
0.704 |
|
| 2010 |
Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, et al. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation. 31: E1851-60. PMID 20848658 DOI: 10.1002/Humu.21362 |
0.363 |
|
| 2010 |
Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, ... ... Monaco AP, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science Translational Medicine. 2: 49ra68. PMID 20844286 DOI: 10.1126/Scitranslmed.3001267 |
0.676 |
|
| 2010 |
Sousa I, Clark TG, Holt R, Pagnamenta AT, Mulder EJ, Minderaa RB, Bailey AJ, Battaglia A, Klauck SM, Poustka F, Monaco AP. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Molecular Autism. 1: 7. PMID 20678249 DOI: 10.1186/2040-2392-1-7 |
0.435 |
|
| 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, ... ... Monaco AP, 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 |
0.674 |
|
| 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, ... ... Monaco AP, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/Nature09146 |
0.681 |
|
| 2010 |
Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I, Mulder EJ, Kantojärvi K, Järvelä I, Klauck SM, Poustka F, Bailey AJ, Monaco AP. Linkage and candidate gene studies of autism spectrum disorders in European populations. European Journal of Human Genetics : Ejhg. 18: 1013-9. PMID 20442744 DOI: 10.1038/Ejhg.2010.69 |
0.693 |
|
| 2010 |
Pagnamenta AT, Bacchelli E, de Jonge MV, Mirza G, Scerri TS, Minopoli F, Chiocchetti A, Ludwig KU, Hoffmann P, Paracchini S, Lowy E, Harold DH, Chapman JA, Klauck SM, Poustka F, ... ... Monaco AP, et al. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biological Psychiatry. 68: 320-8. PMID 20346443 DOI: 10.1016/J.Biopsych.2010.02.002 |
0.78 |
|
| 2010 |
Addis L, Friederici AD, Kotz SA, Sabisch B, Barry J, Richter N, Ludwig AA, Rübsamen R, Albert FW, Pääbo S, Newbury DF, Monaco AP. A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Genes, Brain, and Behavior. 9: 545-61. PMID 20345892 DOI: 10.1111/J.1601-183X.2010.00583.X |
0.39 |
|
| 2010 |
Newbury DF, Fisher SE, Monaco AP. Recent advances in the genetics of language impairment. Genome Medicine. 2: 6. PMID 20193051 DOI: 10.1186/Gm127 |
0.635 |
|
| 2010 |
Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, ... ... Monaco AP, et al. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Molecular Psychiatry. 15: 954-68. PMID 19401682 DOI: 10.1038/Mp.2009.34 |
0.766 |
|
| 2010 |
Scerri TS, Paracchini S, Morris A, MacPhie IL, Talcott J, Stein J, Smith SD, Pennington BF, Olson RK, DeFries JC, Monaco AP, Richardson AJ. Correction: Identification of Candidate Genes for Dyslexia Susceptibility on Chromosome 18 Plos One. 5. DOI: 10.1371/Annotation/2294A38B-878D-42F0-9Faf-0822Db4A0248 |
0.618 |
|
| 2010 |
Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I, Mulder EJ, Kantojärvi K, Järvelä I, Klauck SM, Poustka F, Bailey AJ, Monaco AP. Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations European Journal of Human Genetics. 18: 1020-1020. DOI: 10.1038/Ejhg.2010.99 |
0.654 |
|
| 2009 |
Newbury DF, Winchester L, Addis L, Paracchini S, Buckingham LL, Clark A, Cohen W, Cowie H, Dworzynski K, Everitt A, Goodyer IM, Hennessy E, Kindley AD, Miller LL, Nasir J, ... ... Monaco AP, et al. CMIP and ATP2C2 modulate phonological short-term memory in language impairment. American Journal of Human Genetics. 85: 264-72. PMID 19646677 DOI: 10.1016/J.Ajhg.2009.07.004 |
0.749 |
|
| 2009 |
Levecque C, Velayos-Baeza A, Holloway ZG, Monaco AP. The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway. American Journal of Physiology. Cell Physiology. 297: C160-8. PMID 19419997 DOI: 10.1152/Ajpcell.00630.2008 |
0.714 |
|
| 2009 |
Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. European Journal of Human Genetics : Ejhg. 17: 1347-53. PMID 19384346 DOI: 10.1038/Ejhg.2009.47 |
0.764 |
|
| 2009 |
Vernes SC, MacDermot KD, Monaco AP, Fisher SE. Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. European Journal of Human Genetics : Ejhg. 17: 1354-8. PMID 19352412 DOI: 10.1038/Ejhg.2009.43 |
0.769 |
|
| 2009 |
Dennis MY, Paracchini S, Scerri TS, Prokunina-Olsson L, Knight JC, Wade-Martins R, Coggill P, Beck S, Green ED, Monaco AP. A common variant associated with dyslexia reduces expression of the KIAA0319 gene. Plos Genetics. 5: e1000436. PMID 19325871 DOI: 10.1371/Journal.Pgen.1000436 |
0.679 |
|
| 2009 |
Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP. Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. American Journal of Medical Genetics. Part A. 149: 588-97. PMID 19267418 DOI: 10.1002/Ajmg.A.32704 |
0.691 |
|
| 2009 |
Asher JE, Lamb JA, Brocklebank D, Cazier JB, Maestrini E, Addis L, Sen M, Baron-Cohen S, Monaco AP. A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12. American Journal of Human Genetics. 84: 279-85. PMID 19200526 DOI: 10.1016/J.Ajhg.2009.01.012 |
0.686 |
|
| 2009 |
Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJ, Bölte S, Schmötzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP. A 15q13.3 microdeletion segregating with autism. European Journal of Human Genetics : Ejhg. 17: 687-92. PMID 19050728 DOI: 10.1038/Ejhg.2008.228 |
0.384 |
|
| 2009 |
Sousa I, Clark TG, Toma C, Kobayashi K, Choma M, Holt R, Sykes NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP. MET and autism susceptibility: family and case-control studies. European Journal of Human Genetics : Ejhg. 17: 749-58. PMID 19002214 DOI: 10.1038/Ejhg.2008.215 |
0.765 |
|
| 2008 |
Winchester L, Newbury DF, Monaco AP, Ragoussis J. Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays. Cytogenetic and Genome Research. 123: 322-32. PMID 19287171 DOI: 10.1159/000184724 |
0.387 |
|
| 2008 |
Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE. A functional genetic link between distinct developmental language disorders. The New England Journal of Medicine. 359: 2337-45. PMID 18987363 DOI: 10.1056/Nejmoa0802828 |
0.773 |
|
| 2008 |
Paracchini S, Steer CD, Buckingham LL, Morris AP, Ring S, Scerri T, Stein J, Pembrey ME, Ragoussis J, Golding J, Monaco AP. Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. The American Journal of Psychiatry. 165: 1576-84. PMID 18829873 DOI: 10.1176/Appi.Ajp.2008.07121872 |
0.673 |
|
| 2008 |
Velayos-Baeza A, Toma C, Paracchini S, Monaco AP. The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms. Human Molecular Genetics. 17: 859-71. PMID 18063668 DOI: 10.1093/Hmg/Ddm358 |
0.778 |
|
| 2008 |
Falcaro M, Pickles A, Newbury DF, Addis L, Banfield E, Fisher SE, Monaco AP, Simkin Z, Conti-Ramsden G. Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes, Brain, and Behavior. 7: 393-402. PMID 18005161 DOI: 10.1111/J.1601-183X.2007.00364.X |
0.653 |
|
| 2008 |
Bader B, Dobson-Stone C, Velayos-Baeza A, Monaco A, Walker R, Danek A. Chorea-Akanthozytose: Genetik und Verlauf von 106 Patienten Aktuelle Neurologie. 35. DOI: 10.1055/s-0028-1086535 |
0.634 |
|
| 2008 |
Velayos-Baeza A, Lévecque C, Dobson-Stone C, Monaco AP. The function of chorein Neuroacanthocytosis Syndromes Ii. 87-105. DOI: 10.1007/978-3-540-71693-8_7 |
0.643 |
|
| 2007 |
Ruiz-Sandoval JL, GarcÃa-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-MartÃnez JJ, Barrera-Chairez E, RodrÃguez-Figueroa EI, Pérez-GarcÃa G. Choreoacanthocytosis in a Mexican family. Archives of Neurology. 64: 1661-4. PMID 17998451 DOI: 10.1001/Archneur.64.11.1661 |
0.314 |
|
| 2007 |
Toma C, Rossi M, Sousa I, Blasi F, Bacchelli E, Alen R, Vanhala R, Monaco AP, Järvelä I, Maestrini E. Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. Molecular Psychiatry. 12: 977-9. PMID 17957233 DOI: 10.1038/Sj.Mp.4002069 |
0.722 |
|
| 2007 |
Velayos-Baeza A, Toma C, da Roza S, Paracchini S, Monaco AP. Alternative splicing in the dyslexia-associated gene KIAA0319. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 18: 627-34. PMID 17846832 DOI: 10.1007/S00335-007-9051-3 |
0.797 |
|
| 2007 |
Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, ... ... Monaco AP, et al. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry. 12: 1129-39, 1057. PMID 17667961 DOI: 10.1038/Sj.Mp.4002053 |
0.798 |
|
| 2007 |
Paracchini S, Scerri T, Monaco AP. The genetic lexicon of dyslexia. Annual Review of Genomics and Human Genetics. 8: 57-79. PMID 17444811 DOI: 10.1146/Annurev.Genom.8.080706.092312 |
0.688 |
|
| 2007 |
Monaco AP. Multivariate linkage analysis of specific language impairment (SLI). Annals of Human Genetics. 71: 660-73. PMID 17388790 DOI: 10.1111/J.1469-1809.2007.00361.X |
0.393 |
|
| 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, ... ... Monaco AP, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39: 319-28. PMID 17322880 DOI: 10.1038/Ng1985 |
0.759 |
|
| 2007 |
Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, ... ... Monaco AP, et al. LRRTM1 protein is located in the endoplasmic reticulum (ER) in mammalian cells Molecular Psychiatry. 12: 1057. DOI: 10.1038/Sj.Mp.4002116 |
0.749 |
|
| 2006 |
Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L, Wakeling E, Blair E, Morava E, Monaco AP, Ragoussis J. Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Human Mutation. 27: 1160. PMID 17041877 DOI: 10.1002/Humu.9467 |
0.304 |
|
| 2006 |
Harold D, Paracchini S, Scerri T, Dennis M, Cope N, Hill G, Moskvina V, Walter J, Richardson AJ, Owen MJ, Stein JF, Green ED, O'Donovan MC, Williams J, Monaco AP. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Molecular Psychiatry. 11: 1085-91, 1061. PMID 17033633 DOI: 10.1038/Sj.Mp.4001904 |
0.695 |
|
| 2006 |
Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, ... ... Monaco AP, et al. The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Human Molecular Genetics. 15: 1659-66. PMID 16600991 DOI: 10.1093/Hmg/Ddl089 |
0.681 |
|
| 2006 |
Blasi F, Bacchelli E, Carone S, Toma C, Monaco AP, Bailey AJ, Maestrini E. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. European Journal of Human Genetics : Ejhg. 14: 123-6. PMID 16205742 DOI: 10.1038/Sj.Ejhg.5201444 |
0.769 |
|
| 2006 |
Ogdie MN, Bakker SC, Fisher SE, Francks C, Yang MH, Cantor RM, Loo SK, van der Meulen E, Pearson P, Buitelaar J, Monaco A, Nelson SF, Sinke RJ, Smalley SL. Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13. Molecular Psychiatry. 11: 5-8. PMID 16205734 DOI: 10.1038/Sj.Mp.4001760 |
0.619 |
|
| 2006 |
Harold D, Paracchini S, Scerri T, Dennis M, Cope N, Hill G, Moskvina V, Walter J, Richardson AJ, Owen MJ, Stein JF, Green ED, O'Donovan MC, Williams J, Monaco AP. Linkage disequilibrium structure of KIAA0319 and DCDC2, two candidate susceptibility genes for developmental dyslexia Molecular Psychiatry. 11: 1061. DOI: 10.1038/Sj.Mp.4001930 |
0.655 |
|
| 2006 |
Flint J, Monaco AP. Focus on behavioural genetics European Journal of Human Genetics. 14: 647-648. DOI: 10.1038/Sj.Ejhg.5201599 |
0.309 |
|
| 2005 |
Newbury DF, Bishop DV, Monaco AP. Genetic influences on language impairment and phonological short-term memory. Trends in Cognitive Sciences. 9: 528-34. PMID 16188486 DOI: 10.1016/J.Tics.2005.09.002 |
0.347 |
|
| 2005 |
Gayán J, Willcutt EG, Fisher SE, Francks C, Cardon LR, Olson RK, Pennington BF, Smith SD, Monaco AP, DeFries JC. Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci. Journal of Child Psychology and Psychiatry, and Allied Disciplines. 46: 1045-56. PMID 16178928 DOI: 10.1111/J.1469-7610.2005.01447.X |
0.646 |
|
| 2005 |
Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics. 6: 151-8. PMID 15918062 DOI: 10.1007/S10048-005-0220-9 |
0.727 |
|
| 2005 |
MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. American Journal of Human Genetics. 76: 1074-80. PMID 15877281 DOI: 10.1086/430841 |
0.772 |
|
| 2005 |
Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R, Lamb J, Bailey AJ, Monaco AP. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. American Journal of Human Genetics. 76: 950-66. PMID 15830322 DOI: 10.1086/430454 |
0.442 |
|
| 2005 |
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, et al. Early clinical heterogeneity in choreoacanthocytosis. Archives of Neurology. 62: 611-4. PMID 15824261 DOI: 10.1001/Archneur.62.4.611 |
0.306 |
|
| 2005 |
Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F, Maestrini E, Broxholme J, Tzenova J, Weeks D, Bailey AJ, Monaco AP. Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. Journal of Medical Genetics. 42: 132-7. PMID 15689451 DOI: 10.1136/Jmg.2004.025668 |
0.648 |
|
| 2005 |
Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, ... ... Monaco AP, et al. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. European Journal of Human Genetics : Ejhg. 13: 198-207. PMID 15523497 DOI: 10.1038/Sj.Ejhg.5201315 |
0.709 |
|
| 2004 |
Scerri TS, Fisher SE, Francks C, MacPhie IL, Paracchini S, Richardson AJ, Stein JF, Monaco AP. Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK. Journal of Medical Genetics. 41: 853-7. PMID 15520411 DOI: 10.1136/Jmg.2004.018341 |
0.78 |
|
| 2004 |
Francks C, Paracchini S, Smith SD, Richardson AJ, Scerri TS, Cardon LR, Marlow AJ, MacPhie IL, Walter J, Pennington BF, Fisher SE, Olson RK, DeFries JC, Stein JF, Monaco AP. A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. American Journal of Human Genetics. 75: 1046-58. PMID 15514892 DOI: 10.1086/426404 |
0.778 |
|
| 2004 |
Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Analysis of the human VPS13 gene family. Genomics. 84: 536-49. PMID 15498460 DOI: 10.1016/J.Ygeno.2004.04.012 |
0.744 |
|
| 2004 |
Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH. Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. The Journal of Bone and Joint Surgery. British Volume. 86: 1041-6. PMID 15446535 DOI: 10.1302/0301-620X.86B7.14815 |
0.303 |
|
| 2004 |
Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, ... Monaco AP, et al. Chorein detection for the diagnosis of chorea-acanthocytosis. Annals of Neurology. 56: 299-302. PMID 15293285 DOI: 10.1002/Ana.20200 |
0.699 |
|
| 2004 |
Loo SK, Fisher SE, Francks C, Ogdie MN, MacPhie IL, Yang M, McCracken JT, McGough JJ, Nelson SF, Monaco AP, Smalley SL. Genome-wide scan of reading ability in affected sibling pairs with attention-deficit/hyperactivity disorder: unique and shared genetic effects. Molecular Psychiatry. 9: 485-93. PMID 14625563 DOI: 10.1038/Sj.Mp.4001450 |
0.654 |
|
| 2003 |
Francks C, Fisher SE, Marlow AJ, MacPhie IL, Taylor KE, Richardson AJ, Stein JF, Monaco AP. Familial and genetic effects on motor coordination, laterality, and reading-related cognition. The American Journal of Psychiatry. 160: 1970-7. PMID 14594743 DOI: 10.1176/Appi.Ajp.160.11.1970 |
0.601 |
|
| 2003 |
Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G, Parr J, Beyer KS, Klauck SM, Poustka A, Bailey AJ, Monaco AP, Maestrini E. Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Molecular Psychiatry. 8: 916-24. PMID 14593429 DOI: 10.1038/Sj.Mp.4001340 |
0.706 |
|
| 2003 |
Francks C, DeLisi LE, Shaw SH, Fisher SE, Richardson AJ, Stein JF, Monaco AP. Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11. Human Molecular Genetics. 12: 3225-30. PMID 14583442 DOI: 10.1093/Hmg/Ddg362 |
0.634 |
|
| 2003 |
Barnby G, Monaco AP. Strategies for autism candidate gene analysis. Novartis Foundation Symposium. 251: 48-63; discussion 63. PMID 14521187 DOI: 10.1002/0470869380.Ch4 |
0.435 |
|
| 2003 |
Bonora E, Beyer KS, Lamb JA, Parr JR, Klauck SM, Benner A, Paolucci M, Abbott A, Ragoussis I, Poustka A, Bailey AJ, Monaco AP. Analysis of reelin as a candidate gene for autism. Molecular Psychiatry. 8: 885-92. PMID 14515139 DOI: 10.1038/Sj.Mp.4001310 |
0.438 |
|
| 2003 |
Lai CS, Gerrelli D, Monaco AP, Fisher SE, Copp AJ. FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain : a Journal of Neurology. 126: 2455-62. PMID 12876151 DOI: 10.1093/Brain/Awg247 |
0.625 |
|
| 2003 |
Bochukova EG, Jefferson A, Francis MJ, Monaco AP. Genomic studies of gene expression: regulation of the Wilson disease gene. Genomics. 81: 531-42. PMID 12782122 DOI: 10.1016/S0888-7543(03)00093-4 |
0.355 |
|
| 2003 |
Ogdie MN, Macphie IL, Minassian SL, Yang M, Fisher SE, Francks C, Cantor RM, McCracken JT, McGough JJ, Nelson SF, Monaco AP, Smalley SL. A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11. American Journal of Human Genetics. 72: 1268-79. PMID 12687500 DOI: 10.1086/375139 |
0.645 |
|
| 2003 |
Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP. Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 403-7. PMID 12671946 DOI: 10.1002/Mds.10361 |
0.373 |
|
| 2003 |
Francks C, DeLisi LE, Fisher SE, Laval SH, Rue JE, Stein JF, Monaco AP. Confirmatory evidence for linkage of relative hand skill to 2p12-q11. American Journal of Human Genetics. 72: 499-502. PMID 12596796 DOI: 10.1086/367548 |
0.623 |
|
| 2003 |
Marlow AJ, Fisher SE, Francks C, MacPhie IL, Cherny SS, Richardson AJ, Talcott JB, Stein JF, Monaco AP, Cardon LR. Use of multivariate linkage analysis for dissection of a complex cognitive trait. American Journal of Human Genetics. 72: 561-70. PMID 12587094 DOI: 10.1086/368201 |
0.637 |
|
| 2003 |
Fisher SE, Lai CS, Monaco AP. Deciphering the genetic basis of speech and language disorders. Annual Review of Neuroscience. 26: 57-80. PMID 12524432 DOI: 10.1146/Annurev.Neuro.26.041002.131144 |
0.65 |
|
| 2002 |
Francks C, MacPhie IL, Monaco AP. The genetic basis of dyslexia. The Lancet. Neurology. 1: 483-90. PMID 12849333 DOI: 10.1016/S1474-4422(02)00221-1 |
0.395 |
|
| 2002 |
Newbury DF, Monaco AP. Molecular genetics of speech and language disorders. Current Opinion in Pediatrics. 14: 696-701. PMID 12436038 DOI: 10.1097/00008480-200212000-00009 |
0.343 |
|
| 2002 |
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, ... ... Monaco AP, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. European Journal of Human Genetics : Ejhg. 10: 773-81. PMID 12404112 DOI: 10.1038/Sj.Ejhg.5200866 |
0.316 |
|
| 2002 |
Lamb JA, Parr JR, Bailey AJ, Monaco AP. Autism: in search of susceptibility genes. Neuromolecular Medicine. 2: 11-28. PMID 12230302 DOI: 10.1385/Nmm:2:1:11 |
0.366 |
|
| 2002 |
Enard W, Przeworski M, Fisher SE, Lai CS, Wiebe V, Kitano T, Monaco AP, Pääbo S. Molecular evolution of FOXP2, a gene involved in speech and language. Nature. 418: 869-72. PMID 12192408 DOI: 10.1038/Nature01025 |
0.645 |
|
| 2002 |
Smalley SL, Kustanovich V, Minassian SL, Stone JL, Ogdie MN, McGough JJ, McCracken JT, MacPhie IL, Francks C, Fisher SE, Cantor RM, Monaco AP, Nelson SF. Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. American Journal of Human Genetics. 71: 959-63. PMID 12187510 DOI: 10.1086/342732 |
0.643 |
|
| 2002 |
Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. Journal of Molecular Medicine (Berlin, Germany). 80: 475-91. PMID 12185448 DOI: 10.1007/S00109-002-0349-Z |
0.303 |
|
| 2002 |
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL. A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. American Journal of Human Genetics. 70: 1183-96. PMID 11923911 DOI: 10.1086/340112 |
0.657 |
|
| 2002 |
Bonora E, Bacchelli E, Levy ER, Blasi F, Marlow A, Monaco AP, Maestrini E. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Molecular Psychiatry. 7: 289-301. PMID 11920156 DOI: 10.1038/Sj.Mp.4001004 |
0.696 |
|
| 2002 |
Francks C, Fisher SE, Olson RK, Pennington BF, Smith SD, DeFries JC, Monaco AP. Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1. Psychiatric Genetics. 12: 35-41. PMID 11901358 DOI: 10.1097/00041444-200203000-00005 |
0.681 |
|
| 2002 |
Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP. FOXP2 is not a major susceptibility gene for autism or specific language impairment. American Journal of Human Genetics. 70: 1318-27. PMID 11894222 DOI: 10.1086/339931 |
0.667 |
|
| 2002 |
Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. Gene. 283: 17-26. PMID 11867209 DOI: 10.1016/S0378-1119(01)00876-9 |
0.381 |
|
| 2002 |
Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, Strachan T, Burge S, Sudbrak R, Monaco AP, Hovnanian A. Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. The Journal of Investigative Dermatology. 118: 338-43. PMID 11841554 DOI: 10.1046/J.0022-202X.2001.01675.X |
0.326 |
|
| 2002 |
Newbury DF, Cleak JD, Ishikawa-Brush Y, Marlow AJ, Fisher SE, Monaco AP, Stott CM, Merricks MJ, Goodyer IM, Bolton PF, Jannoun L, Slonims V, Baird G, Pickles A, Bishop DVM, et al. A genomewide scan identifies two novel loci involved in specific language impairment American Journal of Human Genetics. 70: 384-398. PMID 11791209 DOI: 10.1086/338649 |
0.65 |
|
| 2002 |
Francks C, Fisher SE, MacPhie IL, Richardson AJ, Marlow AJ, Stein JF, Monaco AP. A genomewide linkage screen for relative hand skill in sibling pairs. American Journal of Human Genetics. 70: 800-5. PMID 11774074 DOI: 10.1086/339249 |
0.633 |
|
| 2002 |
Fisher SE, Francks C, Marlow AJ, MacPhie IL, Newbury DF, Cardon LR, Ishikawa-Brush Y, Richardson AJ, Talcott JB, Gayán J, Olson RK, Pennington BF, Smith SD, DeFries JC, Stein JF, ... Monaco AP, et al. Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature Genetics. 30: 86-91. PMID 11743577 DOI: 10.1038/Ng792 |
0.665 |
|
| 2001 |
Monaco AP, Bailey AJ. Autism. The search for susceptibility genes. Lancet. 358: S3. PMID 11784552 DOI: 10.1016/S0140-6736(01)07016-7 |
0.442 |
|
| 2001 |
Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, ... ... Monaco AP, et al. McLeod neuroacanthocytosis: genotype and phenotype. Annals of Neurology. 50: 755-64. PMID 11761473 DOI: 10.1002/Ana.10035 |
0.322 |
|
| 2001 |
Danek A, Tison F, Rubio J, Oechsner M, Kalckreuth W, Monaco AP. The chorea of McLeod syndrome. Movement Disorders : Official Journal of the Movement Disorder Society. 16: 882-9. PMID 11746618 DOI: 10.1002/Mds.1188 |
0.32 |
|
| 2001 |
Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 413: 519-23. PMID 11586359 DOI: 10.1038/35097076 |
0.654 |
|
| 2001 |
Marlow AJ, Fisher SE, Richardson AJ, Francks C, Talcott JB, Monaco AP, Stein JF, Cardon LR. Investigation of quantitative measures related to reading disability in a large sample of sib-pairs from the UK. Behavior Genetics. 31: 219-30. PMID 11545538 DOI: 10.1023/A:1010209629021 |
0.622 |
|
| 2001 |
Palferman S, Matthews N, Turner M, Moore J, Hervas A, Aubin A, Wallace S, Michelotti J, Wainhouse C, Paul A, Thompson E, Gupta R, Garner C, Murin M, Freitag C, ... ... Monaco A, et al. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q and 16p American Journal of Human Genetics. 69: 570-581. PMID 11481586 DOI: 10.1086/323264 |
0.686 |
|
| 2001 |
Palferman S, Matthews N, Turner M, Moore J, Hervas A, Aubin A, Wallace S, Michelotti J, Wainhouse C, Paul A, Thompson E, Murin M, Gupta R, Garner C, Pickles A, ... ... Monaco AP, et al. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q Human Molecular Genetics. 10: 973-982. PMID 11392322 DOI: 10.1093/Hmg/10.9.973 |
0.685 |
|
| 2001 |
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, ... ... Monaco AP, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nature Genetics. 28: 119-20. PMID 11381253 DOI: 10.1038/88821 |
0.342 |
|
| 2001 |
Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics. 3: 107-9. PMID 11354824 DOI: 10.1007/S100480000101 |
0.335 |
|
| 2001 |
Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. American Journal of Human Genetics. 68: 788-94. PMID 11179027 DOI: 10.1086/318805 |
0.382 |
|
| 2000 |
Maestrini E, Paul A, Monaco AP, Bailey A. Identifying autism susceptibility genes. Neuron. 28: 19-24. PMID 11086979 DOI: 10.1016/S0896-6273(00)00081-7 |
0.707 |
|
| 2000 |
Francks C, Fisher SE, Marlow AJ, Richardson AJ, Stein JF, Monaco AP. A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability. Prostaglandins, Leukotrienes, and Essential Fatty Acids. 63: 27-31. PMID 10970709 DOI: 10.1054/Plef.2000.0187 |
0.671 |
|
| 2000 |
Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. American Journal of Human Genetics. 67: 357-68. PMID 10880297 DOI: 10.1086/303011 |
0.668 |
|
| 2000 |
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nature Genetics. 25: 17-9. PMID 10802647 DOI: 10.1038/75542 |
0.34 |
|
| 2000 |
Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larrègue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, ... Monaco AP, et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Human Molecular Genetics. 9: 1131-40. PMID 10767338 DOI: 10.1093/Hmg/9.7.1131 |
0.335 |
|
| 2000 |
Lamb JA, Moore J, Bailey A, Monaco AP. Autism: recent molecular genetic advances. Human Molecular Genetics. 9: 861-8. PMID 10767308 DOI: 10.1093/Hmg/9.6.861 |
0.358 |
|
| 2000 |
McDonell N, Ramser J, Francis F, Vinet MC, Rider S, Sudbrak R, Riesselman L, Yaspo ML, Reinhardt R, Monaco AP, Ross F, Kahn A, Kearney L, Buckle V, Chelly J. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia. Genomics. 64: 221-9. PMID 10756090 DOI: 10.1006/Geno.2000.6128 |
0.378 |
|
| 2000 |
Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. Genomics. 63: 271-8. PMID 10673338 DOI: 10.1006/Geno.1999.6088 |
0.382 |
|
| 2000 |
Bailey A, Maestrini E, Paul A, Monaco A. Molecular Genetics of autism: evidence for susceptibility loci European Neuropsychopharmacology. 10: 149-150. DOI: 10.1016/S0924-977X(00)80050-4 |
0.649 |
|
| 1999 |
Fisher SE, Stein JF, Monaco AP. A genome-wide search strategy for identifying quantitative trait loci involved in reading and spelling disability (developmental dyslexia). European Child & Adolescent Psychiatry. 8: 47-51. PMID 10638370 DOI: 10.1007/Pl00010694 |
0.666 |
|
| 1999 |
Németh AH, Nolte D, Dunne E, Niemann S, Kostrzewa M, Peters U, Fraser E, Bochukova E, Butler R, Brown J, Cox RD, Levy ER, Ropers HH, Monaco AP, Müller U. Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). Genomics. 60: 320-9. PMID 10493831 DOI: 10.1006/Geno.1999.5929 |
0.386 |
|
| 1999 |
Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A, Cook EH, Weeks DE, Monaco AP. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. American Journal of Medical Genetics. 88: 492-6. PMID 10490705 DOI: 10.1002/(Sici)1096-8628(19991015)88:5<492::Aid-Ajmg11>3.0.Co;2-X |
0.688 |
|
| 1999 |
Szepetowski P, Monaco AP. Electronic identification and chromosomal assignment by radiation hybrid mapping of human expressed sequence tags corresponding to new potassium channel genes. Neurogenetics. 2: 115-20. PMID 10369888 DOI: 10.1007/S100480050062 |
0.307 |
|
| 1999 |
Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Human Molecular Genetics. 8: 1237-43. PMID 10369869 DOI: 10.1093/Hmg/8.7.1237 |
0.636 |
|
| 1999 |
Rubio JP, Levy ER, Dobson-Stone C, Monaco AP. Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC). Genomics. 57: 84-93. PMID 10191087 DOI: 10.1006/Geno.1999.5758 |
0.414 |
|
| 1999 |
Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nature Genetics. 21: 271-7. PMID 10080178 DOI: 10.1038/6784 |
0.338 |
|
| 1999 |
Fisher SE, Marlow AJ, Lamb J, Maestrini E, Williams DF, Richardson AJ, Weeks DE, Stein JF, Monaco AP. A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. American Journal of Human Genetics. 64: 146-56. PMID 9915953 DOI: 10.1086/302190 |
0.756 |
|
| 1998 |
Szepetowski P, Monaco AP. Recent progress in the genetics of human epilepsies. Neurogenetics. 1: 153-63. PMID 10737118 DOI: 10.1007/S100480050024 |
0.376 |
|
| 1998 |
Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. Human Genetics. 103: 608-12. PMID 9860304 DOI: 10.1007/S004390050876 |
0.38 |
|
| 1998 |
Maestrini E, Marlow AJ, Weeks DE, Monaco AP. Molecular genetic investigations of autism. Journal of Autism and Developmental Disorders. 28: 427-37. PMID 9813778 DOI: 10.1023/A:1026056522602 |
0.679 |
|
| 1998 |
Hovnanian A, Rebouillat D, Mattei MG, Levy ER, Marié I, Monaco AP, Hovanessian AG. The human 2',5'-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms. Genomics. 52: 267-77. PMID 9790745 DOI: 10.1006/Geno.1998.5443 |
0.363 |
|
| 1998 |
Kostrzewa M, Krings BW, Dixon MJ, Eppelt K, Köhler A, Grady DL, Steinberger D, Fairweather ND, Moyzis RK, Monaco AP, Müller U. Integrated physical and transcript map of 5q31.3-qter. European Journal of Human Genetics : Ejhg. 6: 266-74. PMID 9781031 DOI: 10.1038/Sj.Ejhg.5200188 |
0.327 |
|
| 1998 |
Francis MJ, Jones EE, Levy ER, Ponnambalam S, Chelly J, Monaco AP. A Golgi localization signal identified in the Menkes recombinant protein. Human Molecular Genetics. 7: 1245-52. PMID 9668166 DOI: 10.1093/Hmg/7.8.1245 |
0.306 |
|
| 1998 |
Bailey A, Hervas A, Matthews N, Palferman S, Wallace S, Aubin A, Michelotti J, Wainhouse C, Papanikolaou K, Rutter M, Maestrini E, Marlow A, Weeks DE, Lamb J, Francks C, ... ... Monaco AP, et al. A full genome screen for autism with evidence for linkage to a region on chromosome 7q Human Molecular Genetics. 7: 571-578. PMID 9546821 DOI: 10.1093/Hmg/7.3.571 |
0.693 |
|
| 1998 |
Monk S, Sakuntabhai A, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL, Katsantoni E, Kodvawala A, Munro CS, Burge S, Larrègue M, Nagy G, Rees JL, ... ... Monaco AP, et al. Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region. American Journal of Human Genetics. 62: 890-903. PMID 9529352 DOI: 10.1086/301794 |
0.389 |
|
| 1998 |
Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers P, Steiner K, Tam PP, Monaco AP, Willard HF, Koopman P. The UTX gene escapes X inactivation in mice and humans. Human Molecular Genetics. 7: 737-42. PMID 9499428 DOI: 10.1093/Hmg/7.4.737 |
0.346 |
|
| 1998 |
Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME. Localisation of a gene implicated in a severe speech and language disorder. Nature Genetics. 18: 168-70. PMID 9462748 DOI: 10.1038/Ng0298-168 |
0.652 |
|
| 1997 |
Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, ... ... Monaco AP, et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. American Journal of Human Genetics. 61: 899-908. PMID 9382101 DOI: 10.1086/514876 |
0.403 |
|
| 1997 |
Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. American Journal of Human Genetics. 61: 889-98. PMID 9382100 DOI: 10.1086/514877 |
0.403 |
|
| 1997 |
Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, Monk S, Carter S, Ross CJ, Pang J, Twells R, Chamberlain S, Monaco AP, Strachan T, Kucherlapati R. A sequence-ready physical map of a region of 12q24.1. Genomics. 45: 271-8. PMID 9344649 DOI: 10.1006/Geno.1997.4888 |
0.344 |
|
| 1997 |
Boultwood J, Fidler C, Soularue P, Strickson AJ, Kostrzewa M, Jaju RJ, Cotter FE, Fairweather N, Monaco AP, Müller U, Lovett M, Jabs EW, Auffray C, Wainscoat JS. Novel genes mapping to the critical region of the 5q- syndrome. Genomics. 45: 88-96. PMID 9339364 DOI: 10.1006/Geno.1997.4899 |
0.375 |
|
| 1997 |
Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. American Journal of Human Genetics. 61: 520-8. PMID 9326317 DOI: 10.1086/515505 |
0.314 |
|
| 1997 |
Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF, Lehrach H, Monaco AP. Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. Human Molecular Genetics. 6: 1241-50. PMID 9259269 DOI: 10.1093/Hmg/6.8.1241 |
0.389 |
|
| 1997 |
Zajac V, Kirchhoff T, Levy ER, Horsley SW, Miller A, Steichen-Gersdorf E, Monaco AP. Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. European Journal of Human Genetics : Ejhg. 5: 61-8. PMID 9195154 DOI: 10.1007/Bf03405879 |
0.369 |
|
| 1997 |
Millwood IY, Bihoreau MT, Gauguier D, Hyne G, Levy ER, Kreutz R, Lathrop GM, Monaco AP. A gene-based genetic linkage and comparative map of the rat X chromosome. Genomics. 40: 253-61. PMID 9119392 DOI: 10.1006/Geno.1996.4555 |
0.389 |
|
| 1997 |
MejÃa JE, Monaco AP. Retrofitting vectors for Escherichia coli-based artificial chromosomes (PACs and BACs) with markers for transfection studies. Genome Research. 7: 179-86. PMID 9049635 DOI: 10.1101/Gr.7.2.179 |
0.35 |
|
| 1996 |
Monaco AP. Human genetics: dissecting Williams syndrome. Current Biology : Cb. 6: 1396-8. PMID 8939595 DOI: 10.1016/S0960-9822(96)00740-3 |
0.305 |
|
| 1996 |
Daniels GL, Weinauer F, Stone C, Ho M, Green CA, Jahn-Jochem H, Offner R, Monaco AP. A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells. Blood. 88: 4045-50. PMID 8916972 DOI: 10.1182/Blood.V88.10.4045.Bloodjournal88104045 |
0.316 |
|
| 1996 |
Kostrzewa M, Köhler A, Eppelt K, Hellam L, Fairweather ND, Levy ER, Monaco AP, Müller U. Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33. European Journal of Human Genetics : Ejhg. 4: 199-204. PMID 8875185 DOI: 10.1159/000472199 |
0.328 |
|
| 1996 |
Gouyon Bd, Chatterjee A, Monaco A, Quaderi N, Brown SDM, Herman GE. Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region. Mammalian Genome. 7: 575-579. PMID 8678976 DOI: 10.1007/S003359900172 |
0.37 |
|
| 1996 |
Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nature Genetics. 13: 70-7. PMID 8673107 DOI: 10.1038/Ng0596-70 |
0.678 |
|
| 1996 |
Ho MF, Chalmers RM, Davis MB, Harding AE, Monaco AP. A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Annals of Neurology. 39: 672-5. PMID 8619554 DOI: 10.1002/Ana.410390518 |
0.332 |
|
| 1996 |
Ragoussis J, Monaco AP. Covering YAC-cloned DNA with phages and cosmids. Methods in Molecular Biology (Clifton, N.J.). 54: 157-66. PMID 8597788 DOI: 10.1385/0-89603-313-9:157 |
0.303 |
|
| 1995 |
Fisher SE, Hatchwell E, Chand A, Ockenden N, Monaco AP, Craig IW. Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146. Genomics. 29: 496-502. PMID 8666400 DOI: 10.1006/Geno.1995.9976 |
0.651 |
|
| 1995 |
Millwood IY, Blake DJ, Gauguier D, Monaco AP. Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3' UTR repeat. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 6: 668-9. PMID 8535080 DOI: 10.1007/Bf00352379 |
0.346 |
|
| 1995 |
Blair HJ, Ho M, Monaco AP, Fisher S, Craig IW, Boyd Y. High-resolution comparative mapping of the proximal region of the mouse X chromosome. Genomics. 28: 305-10. PMID 8530041 DOI: 10.1006/Geno.1995.1146 |
0.627 |
|
| 1995 |
Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG. X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. Human Molecular Genetics. 3: 1151-4. PMID 7981685 DOI: 10.1093/Hmg/3.7.1151 |
0.397 |
|
| 1995 |
de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (New York, N.Y.). 267: 685-8. PMID 7839145 DOI: 10.1126/Science.7839145 |
0.349 |
|
| 1995 |
Müller U, Haberhausen G, Wagner T, Fairweather ND, Chelly J, Monaco AP. DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3). Genomics. 23: 114-7. PMID 7829058 DOI: 10.1006/Geno.1994.1465 |
0.369 |
|
| 1995 |
Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontes M. Construction of a YAC contig spanning the Xq13.3 subband. Genomics. 26: 115-22. PMID 7782069 DOI: 10.1016/0888-7543(95)80089-5 |
0.36 |
|
| 1995 |
Fletcher FA, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Müller U, Druck T, Simoneaux DK, Chelly J, Belmont JW. Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12. Genomics. 25: 334-5. PMID 7774950 DOI: 10.1016/0888-7543(95)80156-G |
0.347 |
|
| 1995 |
Muscatelli F, Walker AP, De Plaen E, Stafford AN, Monaco AP. Isolation and characterization of a MAGE gene family in the Xp21.3 region. Proceedings of the National Academy of Sciences of the United States of America. 92: 4987-91. PMID 7761436 DOI: 10.1073/Pnas.92.11.4987 |
0.387 |
|
| 1995 |
Miller AP, Gustashaw K, Wolff DJ, Rider SH, Monaco AP, Eble B, Schlessinger D, Gorski JL, van Ommen GJ, Weissenbach J. Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22. Human Molecular Genetics. 4: 731-9. PMID 7633424 DOI: 10.1093/Hmg/4.4.731 |
0.369 |
|
| 1995 |
Philippe C, Arnould C, Sloan F, van Bokhoven H, van der Velde-Visser SD, Chery M, Ropers HH, Gilgenkrantz S, Monaco AP, Cremers FP. A high-resolution interval map of the q21 region of the human X chromosome. Genomics. 27: 539-43. PMID 7558039 DOI: 10.1006/Geno.1995.1089 |
0.345 |
|
| 1995 |
Bolton P, Powell J, Rutter M, Buckle V, Yates JR, Ishikawa-Brush Y, Monaco AP. Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1). Psychiatric Genetics. 5: 51-5. PMID 7551962 DOI: 10.1097/00041444-199522000-00001 |
0.348 |
|
| 1994 |
Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) Human Molecular Genetics. 3: 29-34. PMID 8162049 DOI: 10.1093/Hmg/3.1.29 |
0.341 |
|
| 1994 |
Hagemann T, Surosky R, Monaco AP, Lehrach H, Rosen FS, Kwan SP. Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23. Genomics. 21: 262-5. PMID 8088799 DOI: 10.1006/Geno.1994.1255 |
0.35 |
|
| 1994 |
Reed V, Rider S, Maslen GL, Hatchwell E, Blair HJ, Uwechue IC, Craig IW, Laval SH, Monaco AP, Boyd Y. A 2-Mb YAC contig encompassing three loci (DXF34, DXS14, and DXS390) that lie between Xp11.2 translocation breakpoints associated with incontinentia pigmenti type 1. Genomics. 20: 341-6. PMID 8034305 DOI: 10.1006/Geno.1994.1186 |
0.329 |
|
| 1994 |
Matfin G, Sheaves R, Muscatelli F, Walker A, Monaco A, Grant D, Nwose O, Wass JAH. Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Clinical Endocrinology. 40: 807-808. PMID 8033374 DOI: 10.1111/J.1365-2265.1994.Tb02517.X |
0.344 |
|
| 1994 |
Francis F, Benham F, See CG, Fox M, Ishikawa-Brush Y, Monaco AP, Weiss B, Rappold G, Hamvas RM, Lehrach H. Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines. Genomics. 20: 75-83. PMID 8020959 DOI: 10.1006/Geno.1994.1129 |
0.351 |
|
| 1994 |
Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein Cell. 77: 869-880. PMID 8004674 DOI: 10.1016/0092-8674(94)90136-8 |
0.351 |
|
| 1994 |
George AM, Reed V, Glenister P, Chelly J, Tumer Z, Horn N, Monaco AP, Boyd Y. Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice Genomics. 22: 27-35. PMID 7959788 DOI: 10.1006/Geno.1994.1341 |
0.365 |
|
| 1994 |
Monaco AP. Isolation of genes from cloned DNA. Current Opinion in Genetics & Development. 4: 360-5. PMID 7919912 DOI: 10.1016/0959-437X(94)90022-1 |
0.324 |
|
| 1994 |
Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE. X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. Journal of Medical Genetics. 31: 193-6. PMID 7912286 DOI: 10.1136/Jmg.31.3.193 |
0.368 |
|
| 1994 |
Monaco AP, Larin Z. YACs, BACs, PACs and MACs: artificial chromosomes as research tools. Trends in Biotechnology. 12: 280-6. PMID 7765076 DOI: 10.1016/0167-7799(94)90140-6 |
0.314 |
|
| 1994 |
Stafford AN, Rider SH, Hopkin JM, Cookson WO, Monaco AP. A 2.8 Mb YAC contig in 11q12-q13 localizes candidate genes for atopy: Fc epsilon RI beta and CD20. Human Molecular Genetics. 3: 779-85. PMID 7521709 DOI: 10.1093/Hmg/3.5.779 |
0.312 |
|
| 1993 |
Fairweather N, Chelly J, Monaco AP. Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach. Human Molecular Genetics. 2: 607-8. PMID 8518803 DOI: 10.1093/Hmg/2.5.607 |
0.321 |
|
| 1993 |
Walker AP, Muscatelli F, Monaco AP. Isolation of the human Xp21 glycerol kinase gene by positional cloning. Human Molecular Genetics. 2: 107-14. PMID 8499898 DOI: 10.1093/Hmg/2.2.107 |
0.351 |
|
| 1993 |
Chelly J, Tümer Z, Tønnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genetics. 3: 14-9. PMID 8490646 DOI: 10.1038/Ng0193-14 |
0.336 |
|
| 1993 |
Bergen AA, Wapenaar MC, Schuurman EJ, Diergaarde PJ, Lerach H, Monaco AP, Bakker E, Bleeker-Wagemakers EM, van Ommen GJ. Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning. Cytogenetics and Cell Genetics. 62: 231-5. PMID 8440142 DOI: 10.1159/000133484 |
0.336 |
|
| 1993 |
Francis MJ, Morrison KE, Campbell L, Grewal PK, Christodoulou Z, Daniels RJ, Monaco AP, Frischauf AM, McPherson J, Wasmuth J. A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Human Molecular Genetics. 2: 1161-7. PMID 8401497 DOI: 10.1093/Hmg/2.8.1161 |
0.378 |
|
| 1993 |
Lafrenlère RG, Brown CJ, Rider S, Chelly J, Taillon-miller P, Chinault AC, Monaco AP, Willard HF. 2.6 mb YAC contig of the human X inactivation center region in Xq13: Physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes Human Molecular Genetics. 2: 1105-1115. PMID 8401491 DOI: 10.1093/Hmg/2.8.1105 |
0.358 |
|
| 1993 |
Markiewicz S, DiSanto JP, Chelly J, Fairweather N, Le Marec B, Griscelli C, Graeber MB, Müller U, Fischer A, Monaco AP. Fine mapping of the human SCIDX1 locus at Xq12-13.1. Human Molecular Genetics. 2: 651-4. PMID 8353486 DOI: 10.1093/Hmg/2.6.651 |
0.359 |
|
| 1993 |
Geraghty MT, Brody LC, Martin LS, Marble M, Kearns W, Pearson P, Monaco AP, Lehrach H, Valle D. The Isolation of cDNAs from OATL1 at Xp11.2 Using a 480-kb YAC Genomics. 16: 440-446. PMID 8314581 DOI: 10.1006/Geno.1993.1208 |
0.35 |
|
| 1993 |
Suijkerbuijk RF, Meloni AM, Sinke RJ, de Leeuw B, Wilbrink M, Janssen HA, Geraghty MT, Monaco AP, Sandberg AA, Geurts van Kessel A. Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2. Cancer Genetics and Cytogenetics. 71: 164-9. PMID 8281521 DOI: 10.1016/0165-4608(93)90024-G |
0.323 |
|
| 1993 |
Pearce M, Blake DJ, Tinsley JM, Byth BC, Campbell L, Monaco AP, Davies KE. The utrophin and dystrophin genes share similarities in genomic structure. Human Molecular Genetics. 2: 1765-72. PMID 8281135 DOI: 10.1093/Hmg/2.11.1765 |
0.375 |
|
| 1993 |
Rider SH, Monaco AP. Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus. Human Molecular Genetics. 2: 1510. PMID 8242089 DOI: 10.1093/Hmg/2.9.1510 |
0.307 |
|
| 1993 |
Cox RD, Meier-Ewert S, Ross M, Larin Z, Monaco AP, Lehrach H. Genome mapping and cloning of mutations using yeast artificial chromosomes Methods in Enzymology. 225: 637-653. PMID 8231876 DOI: 10.1016/0076-6879(93)25041-Y |
0.315 |
|
| 1993 |
Larin Z, Monaco AP, Meier-Ewert S, Lehrach H. Construction and characterization of yeast artificial chromosome libraries from the mouse genome. Methods in Enzymology. 225: 623-37. PMID 8231875 DOI: 10.1016/0076-6879(93)25040-9 |
0.32 |
|
| 1993 |
de Leeuw B, Berger W, Sinke RJ, Suijkerbuijk RF, Gilgenkrantz S, Geraghty MT, Valle D, Monaco AP, Lehrach H, Ropers HH. Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint. Genes, Chromosomes & Cancer. 6: 182-9. PMID 7682104 DOI: 10.1002/Gcc.2870060309 |
0.331 |
|
| 1993 |
Maier E, Hoheisel JD, McCarthy L, Mott R, Grigoriev AV, Monaco AP, Larin Z, Lehrach H. Complete coverage of the Schizosaccharomyces pombe genome in yeast artificial chromosomes. Nature Genetics. 1: 273-7. PMID 1302023 DOI: 10.1038/Ng0792-273 |
0.341 |
|
| 1993 |
Baldrich K, Baldrich M, Monaco AP, Müller CR. Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene. Human Mutation. 1: 280-7. PMID 1301934 DOI: 10.1002/Humu.1380010403 |
0.365 |
|
| 1993 |
Den Dunnen JT, Grootscholten PM, Dauwerse JG, Walker AP, Monaco AP, Butler R, Anand R, Coffey AJ, Bentley DR, Steensma HY. Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. Human Molecular Genetics. 1: 19-28. PMID 1301131 DOI: 10.1093/Hmg/1.1.19 |
0.376 |
|
| 1993 |
Schlessinger D, Mandel JL, Monaco AP, Nelson DL, Willard HF. Report of the Fourth International Workshop on human X chromosome mapping 1993 Cytogenetic and Genome Research. 64: 147-194. DOI: 10.2172/10142506 |
0.312 |
|
| 1993 |
Suijkerbuijk R, Meloni A, de Leeuw H, Monaco A, Sandberg A, Geurts van Kessel A. Identification of a yeast artificial chromosome (YAC) that spans the papiliary renal cell carcinoma-associated t(X;1)(p11;q21) breakpoint Cancer Genetics and Cytogenetics. 66: 167. DOI: 10.1016/0165-4608(93)90350-U |
0.306 |
|
| 1992 |
Monaco AP, Müller U, Larin Z, Meier-Ewert S, Lehrach H. Isolation of the human sex determining region from a Y-enriched yeast artificial chromosome library. Genomics. 11: 1049-53. PMID 1783376 DOI: 10.1016/0888-7543(91)90031-9 |
0.331 |
|
| 1992 |
Monaco AP, Walker AP, Millwood I, Larin Z, Lehrach H. A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene. Genomics. 12: 465-73. PMID 1559698 DOI: 10.1016/0888-7543(92)90436-V |
0.362 |
|
| 1992 |
Brzustowicz LM, Kleyn PW, Boyce FM, Lien LL, Monaco AP, Penchaszadeh GK, Das K, Wang CH, Munsat TL, Ott J, Kunkel LM, Gilliam TC. Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6 Genomics. 13: 991-998. PMID 1505990 DOI: 10.1016/0888-7543(92)90012-H |
0.381 |
|
| 1992 |
Mandel JL, Monaco AP, Nelson DL, Schlessinger D, Willard H. Genome analysis and the human X chromosome. Science (New York, N.Y.). 258: 103-9. PMID 1439756 DOI: 10.1126/Science.1439756 |
0.352 |
|
| 1992 |
Hugnot JP, Gilgenkrantz H, Vincent N, Chafey P, Morris GE, Monaco AP, Berwald-Netter Y, Koulakoff A, Kaplan JC, Kahn A. Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proceedings of the National Academy of Sciences of the United States of America. 89: 7506-10. PMID 1380160 DOI: 10.1073/Pnas.89.16.7506 |
0.308 |
|
| 1992 |
Graeber MB, Monaco AP, Chelly J, Müller U. Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56. Human Genetics. 90: 270-4. PMID 1339399 DOI: 10.1007/Bf00220077 |
0.35 |
|
| 1992 |
Knight JC, Reeves BR, Kearney L, Monaco AP, Lehrach H, Cooper CS. Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization. Human Molecular Genetics. 1: 633-7. PMID 1338692 DOI: 10.1093/Hmg/1.8.633 |
0.334 |
|
| 1992 |
Turner Z, Chelly J, Tommerup N, Ishikawa-Brush Y, Tønnesen T, Monaco AP, Horn N. Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease Human Molecular Genetics. 1: 483-489. PMID 1307248 DOI: 10.1093/Hmg/1.7.483 |
0.355 |
|
| 1992 |
Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburg M. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genetics. 1: 199-203. PMID 1303235 DOI: 10.1038/Ng0692-199 |
0.359 |
|
| 1992 |
Bates GP, Valdes J, Hummerich H, Baxendale S, Le Paslier DL, Monaco AP, Tagle D, MacDonald ME, Altherr M, Ross M. Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nature Genetics. 1: 180-7. PMID 1303232 DOI: 10.1038/Ng0692-180 |
0.379 |
|
| 1992 |
Chen ZY, Sims KB, Coleman M, Donnai D, Monaco A, Breakefield XO, Davies KE, Craig IW. Characterization of a YAC containing part or all of the Norrie disease locus. Human Molecular Genetics. 1: 161-4. PMID 1303171 DOI: 10.1093/Hmg/1.3.161 |
0.344 |
|
| 1992 |
Walker AP, Chelly J, Love DR, Brush YI, Récan D, Chaussain JL, Oley CA, Connor JM, Yates J, Price DA, Super M, Bottani A, Steinman B, Kaplan JC, Davies KE, ... Monaco AP, et al. A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes Human Molecular Genetics. 1: 579-585. PMID 1301166 DOI: 10.1093/Hmg/1.8.579 |
0.353 |
|
| 1991 |
Davies KE, Mandel JL, Monaco AP, Nussbaum RL, Willard HF. Report of the committee on the genetic constitution of the X chromosome. Cytogenetics and Cell Genetics. 55: 254-313. PMID 2073838 DOI: 10.1159/000133019 |
0.338 |
|
| 1991 |
Monaco AP, Lam VM, Zehetner G, Lennon GG, Douglas C, Nizetic D, Goodfellow PN, Lehrach H. Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products. Nucleic Acids Research. 19: 3315-8. PMID 2062647 DOI: 10.1093/Nar/19.12.3315 |
0.307 |
|
| 1991 |
Larin Z, Monaco AP, Lehrach H. Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proceedings of the National Academy of Sciences of the United States of America. 88: 4123-7. PMID 2034658 DOI: 10.1073/Pnas.88.10.4123 |
0.302 |
|
| 1991 |
Nizetić D, Zehetner G, Monaco AP, Gellen L, Young BD, Lehrach H. Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries. Proceedings of the National Academy of Sciences of the United States of America. 88: 3233-7. PMID 2014245 DOI: 10.1073/Pnas.88.8.3233 |
0.312 |
|
| 1991 |
Ragoussis J, Monaco A, Mockridge I, Kendall E, Campbell RD, Trowsdale J. Cloning of the HLA class II region in yeast artificial chromosomes. Proceedings of the National Academy of Sciences of the United States of America. 88: 3753-7. PMID 1673791 DOI: 10.1073/Pnas.88.9.3753 |
0.321 |
|
| 1991 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Francis M, Ishikawa-Brush Y, Reed V. Report of the committee on the genetic constitution of the X chromosome (Part 2 of 7) Cytogenetic and Genome Research. 58: 868-892. DOI: 10.1159/000317098 |
0.338 |
|
| 1991 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Francis M, Ishikawa-Brush Y, Reed V. Report of the committee on the genetic constitution of the X chromosome (Part 7 of 7) Cytogenetic and Genome Research. 58: 955-966. DOI: 10.1159/000317097 |
0.338 |
|
| 1991 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Francis M, Ishikawa-Brush Y, Reed V. Report of the committee on the genetic constitution of the X chromosome (Part 6 of 7) Cytogenetic and Genome Research. 58: 946-954. DOI: 10.1159/000317096 |
0.338 |
|
| 1991 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Francis M, Ishikawa-Brush Y, Reed V. Report of the committee on the genetic constitution of the X chromosome (Part 5 of 7) Cytogenetic and Genome Research. 58: 939-945. DOI: 10.1159/000317095 |
0.338 |
|
| 1991 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Francis M, Ishikawa-Brush Y, Reed V. Report of the committee on the genetic constitution of the X chromosome (Part 4 of 7) Cytogenetic and Genome Research. 58: 918-938. DOI: 10.1159/000317094 |
0.338 |
|
| 1991 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Francis M, Ishikawa-Brush Y, Reed V. Report of the committee on the genetic constitution of the X chromosome (Part 3 of 7) Cytogenetic and Genome Research. 58: 893-917. DOI: 10.1159/000317093 |
0.338 |
|
| 1991 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Francis M, Ishikawa-Brush Y, Reed V. Report of the committee on the genetic constitution of the X chromosome Cytogenetic and Genome Research. 58: 853-966. DOI: 10.1159/000133183 |
0.338 |
|
| 1990 |
Davies K, Mandel J, Monaco A, Nussbaum R, Willard H, Bell M, Boyd Y, Riley S. Report of the committee on the genetic constitution of the X chromosome (Part 2 of 3) Cytogenetic and Genome Research. 55: 273-292. DOI: 10.1159/000317031 |
0.338 |
|
| 1988 |
Kunkel LM, Monaco AP, Hoffman E, Koenig M, Feener C, Bertelson C. Molecular studies of progressive muscular dystrophy (Duchenne). Enzyme. 38: 72-5. PMID 3440453 DOI: 10.1159/000469192 |
0.466 |
|
| 1988 |
Burmeister M, Monaco AP, Gillard EF, van Ommen GJ, Affara NA, Ferguson-Smith MA, Kunkel LM, Lehrach H. A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics. 2: 189-202. PMID 3397058 DOI: 10.1016/0888-7543(88)90002-X |
0.51 |
|
| 1988 |
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 2: 90-5. PMID 3384440 DOI: 10.1016/0888-7543(88)90113-9 |
0.539 |
|
| 1988 |
Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein Cell. 53: 219-228. PMID 3282674 DOI: 10.1016/0092-8674(88)90383-2 |
0.476 |
|
| 1988 |
Monaco AP, Kunkel LM. Cloning of the Duchenne/Becker muscular dystrophy locus. Advances in Human Genetics. 17: 61-98. PMID 3055851 DOI: 10.1007/978-1-4613-0987-1_3 |
0.557 |
|
| 1988 |
Koenig M, Hoffman E, Monaco AP, Bertelson C, Feener C, Kunkel LM. The giant Duchenne muscular dystrophy gene and its protein product Fresenius' Zeitschrift FüR Analytische Chemie. 330: 301-301. DOI: 10.1007/Bf00469213 |
0.505 |
|
| 1987 |
Hoffman EP, Monaco AP, Feener CC, Kunkel LM. Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (New York, N.Y.). 238: 347-50. PMID 3659917 DOI: 10.1126/Science.3659917 |
0.501 |
|
| 1987 |
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 50: 509-17. PMID 3607877 DOI: 10.1016/0092-8674(87)90504-6 |
0.546 |
|
| 1987 |
Kunkel LM, Monaco AP, Bertelson CJ, Colletti CA. Molecular genetics of Duchenne muscular dystrophy. Cold Spring Harbor Symposia On Quantitative Biology. 349-51. PMID 3472731 DOI: 10.1101/Sqb.1986.051.01.041 |
0.505 |
|
| 1987 |
Hart KA, Monaco AP, Kunkel LM, Bobrow M. A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region? Human Genetics. 77: 88-91. PMID 3040577 DOI: 10.1007/Bf00284721 |
0.564 |
|
| 1987 |
Chamberlain JS, Grant SG, Reeves AA, Mullins LJ, Stephenson DA, Hoffman EP, Monaco AP, Kunkel LM, Caskey CT, Chapman VM. Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somatic Cell and Molecular Genetics. 13: 671-8. PMID 2890215 DOI: 10.1007/Bf01534487 |
0.377 |
|
| 1987 |
Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM. Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Human Genetics. 75: 221-7. PMID 2881877 DOI: 10.1007/Bf00281063 |
0.579 |
|
| 1987 |
Monaco AP, Kunkel LM. A giant locus for the Duchenne and Becker muscular dystrophy gene Trends in Genetics. 3: 33-37. DOI: 10.1016/0168-9525(87)90163-6 |
0.558 |
|
| 1986 |
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 323: 646-50. PMID 3773991 DOI: 10.1038/323646A0 |
0.555 |
|
| 1986 |
Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location. Cold Spring Harbor Symposia On Quantitative Biology. 51: 177-83. PMID 3472714 DOI: 10.1101/Sqb.1986.051.01.021 |
0.557 |
|
| 1986 |
Müller U, Tantravahi U, Monaco A, Stroh H, Kunkel LM, Latt SA. Repeated DNA sequences in the distal long arm of the human X chromosome. Human Genetics. 74: 24-9. PMID 3019869 DOI: 10.1007/Bf00278780 |
0.672 |
|
| 1986 |
Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, Orkin SH. DNA linkage analysis of X chromosome-linked chronic granulomatous disease Proceedings of the National Academy of Sciences of the United States of America. 83: 3398-3401. PMID 3010296 DOI: 10.1073/Pnas.83.10.3398 |
0.579 |
|
| 1986 |
Bertelson CJ, Bartley JA, Monaco AP, Colletti-Feener C, Fischbeck K, Kunkel LM. Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families Journal of Medical Genetics. 23: 531-537. PMID 2879924 DOI: 10.1136/Jmg.23.6.531 |
0.543 |
|
| 1986 |
Ommen GJBv, Verkerk JMH, Hofker MH, Monaco AP, Kunkel LM, Ray P, Worton R, Wieringa B, Bakker E, Pearson PL. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome Cell. 47: 499-504. PMID 2877741 DOI: 10.1016/0092-8674(86)90614-8 |
0.347 |
|
| 1986 |
Fischbeck KH, Ritter AW, Tirschwell DL, Kunkel LM, Bertelson CJ, Monaco AP, Hejtmancik JF, Boehm C, Ionasescu V, Ionasescu R. Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet. 2: 104. PMID 2873362 DOI: 10.1016/S0140-6736(86)91634-X |
0.499 |
|
| 1986 |
Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 322: 32-8. PMID 2425263 DOI: 10.1038/322032A0 |
0.574 |
|
| 1985 |
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 316: 842-5. PMID 2993910 DOI: 10.1038/316842A0 |
0.528 |
|
| 1985 |
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proceedings of the National Academy of Sciences of the United States of America. 82: 4778-82. PMID 2991893 DOI: 10.1073/Pnas.82.14.4778 |
0.67 |
|
| 1985 |
Kunkel LM, Lalande M, Monaco AP, Flint A, Middlesworth W, Latt SA. Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene. 33: 251-8. PMID 2989089 DOI: 10.1016/0378-1119(85)90232-X |
0.678 |
|
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