Publications

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. (2016) Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes. J Neurodev Disord. 2016 Jun 14;8:24. PMID:27307794 [pdf]

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. Hum Mol Genet 2016 Feb 21. PMID:26908617 [pdf]

Prekovic S, Đurđević DF, Csifcsák G, Šveljo O, Stojković O, Janković M, Koprivšek K, Covill LE, Lučić M, Van den Broeck T, Helsen C, Ceroni F, Claessens F, Newbury DF. Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation. Sci Rep. 2016 Feb 3;6:20369. PMID:26838027 [pdf].

2015

Howey R, Mamasoula C, Töpf A, Nudel R, Goodship JA, Keavney BD, Cordell HJ. Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation. Am J Hum Genet. 2015 Sep 3;97(3):419-34. PMID:26320892 [pdf].

Nudel R, Ceroni F, Simpson N, Newbury DF (2015) The genetics of specific language impairment (SLI). In S Stavrakaki (Ed.), Specific Language Impairment (pp.7-34). John Benjamins Publishing Company. Language Acquisition and Language Disorders Series. 2015. ISBN 9789027253217

Pettigrew KA, Reeves E, Leavett R, Hayiou-Thomas ME, Sharma A, Simpson NH, Martinelli A, Thompson P, Hulme C, Snowling MJ, Newbury DF, Paracchini S. Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment. PLoS One. 2015 Aug 11;10(8):e0134997. PMID:26262844 [pdf]

Moralli D, Nudel R, Chan MT, Green CM, Volpi EV, Benítez-Burraco A, Newbury DF, García-Bellido P. Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2. Mol Cytogenet. 2015;8:36. PMID:26060509 [pdf]

Pettigrew KA, Fajutrao Valles SF, Moll K, Northstone K, Ring S, Pennell C, Wang C, Leavett R, Hayiou-Thomas ME, Thompson P, Simpson NH, Fisher SE; SLI Consortium, Whitehouse AJ, Snowling MJ, Newbury DF, Paracchini S. Lack of replication for the myosin-18B association with mathematical ability in independent cohorts. Genes Brain Behav. 2015 Apr;14(4):369-76. PMID:25778778 [pdf]

Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O’Hare A, Bolton PF, Hennessy ER, the SLI Consortium, Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment. PLoS Genetics. 2015 Mar 17;11(3):e1004925. PMID:25781923 [pdf]

Simpson NH, Ceroni F, Reader RH, Covill LE, Knight JC; the SLI Consortium, Hennessy ER, Bolton PF, Conti-Ramsden G, O'Hare A, Baird G, Fisher SE, Newbury DF. Genome-wide analysis identifies a role for common copy number variants in specific language impairment. Eur J Hum Genet. 2015 Jan 14. [Epub ahead of print]. PMID:25585696 [pdf]

2014

Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H; IMGSAC; SLI Consortium; WGS500 Consortium, Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Fisher SE, Newbury DF. Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' Eur J Hum Genet. 2015 Sep;23(9):1113-5. PMID:25537359 [pdf]

Reader RH, Covill LE, Nudel R, Newbury DF. Genome-wide studies of specific language impairment. Curr Behav Neurosci Rep. 2014;1(4):242-250. Review. PMID:25411653 [pdf]

Gialluisi A, Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler WM, Pennington BF, Smith SD, Scerri TS, Simpson NH; The SLI Consortium, Luciano M, Evans DM, Bates TC, Stein JF, Talcott JB, Monaco AP, Paracchini S, Francks C, Fisher SE. Genome-wide screening for DNA variants associated with reading and language traits. Genes Brain Behav. 2014 Sep;13(7):686-701. PMID:25065397 [pdf]

Newbury DF, Monaco AP, Paracchini S. Reading and language disorders: the importance of both quantity and quality. Genes. 2014 Apr 4;5(2):285-309. PMID:24705331 [pdf]

Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER; The SLI Consortium, Ring SM, Smith GD, 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 Behav. 2014 13, 418-429. PMID:24571439 [pdf]

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 Res. 2014 Apr;7(2):254-63. PMID:24634087 [pdf]

Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H, IMGSAC, SLIC, WGS500 Consortium, Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Fisher SE, Newbury DF (2014) Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Eur J Hum Genet. 2014 Oct;22(10):1165-71. PMID:24518835 [pdf]

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. (2014) Associations of HLA alleles with specific language impairment. J Neurodev Disord. 2014 Jan 17;6(1):1. PMID: 24433325 [pdf]

2013

Simpson NH, Addis L, Brandler WM, Slonims V, Clark A, Watson J, Scerri TS, Hennessy ER, Bolton PF, Conti-Ramsden G, Fairfax BP, Knight JC, Stein J, Talcott JB, O'Hare A, Baird G, Paracchini S, Fisher SE, Newbury DF, Consortium SLI (2013) Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Dev Med Child Neurol. 2013 Oct 9. PMID: 24117048 [pdf]

Nudel R, Newbury DF (2013) FOXP2. Wiley Interdisciplinary Reviews: Cognitive Science 2013, 4:547-560. [pdf]

Newbury DF, Mari F, Sadighi Akha E, MacDermot KD, Canitano R, Monaco AP, Taylor JC, Renieri A, Fisher SE and Knight SJL (2013) Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder Eur J Hum Genet 2013, 21:361-365. PMID: 22909776 [pdf]

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, Paracchini S. The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure. PLoS One. 2012;7(11):e50321. PMID 23209710 [pdf]

Newbury DF (2012) The genetics of developmental disorders. In CR Marshall (Ed.), Current Issues in developmental disorders (pp.46-72). Psychology Press. September 2012. ISBN-10: 184872084X 978-1848720848

Dianne F Newbury, Francesca Mari, Elham Sadighi Akha, Kay D MacDermot, Roberto Canitano, Anthony P Monaco, Jenny C Taylor, Alessandra Renieri, Simon E Fisher and Samantha J L Knight (2012) Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder Eur J Hum Genet advance online publication, August 22, 2012. PMID: 22909776 [pdf]

2011

Scerri TS, Morris AP, Buckingham LL, Newbury DF, Miller LL, Monaco AP, Bishop DV, Paracchini S (2011) DCDC2, KIAA0319 and CMIP Are Associated with Reading-Related Traits. Biol Psychiatry. 2011 Mar 30. [Epub ahead of print] PMID: 21457949 [pdf]

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. Eur J Hum Genet. 2011, 19, 687-695. PMID: 21248734 [pdf]

Newbury DF, Paracchini S, Scerri TS, Winchester L, Addis L, Richardson AJ, Walter J, Stein JF, Talcott JB, Monaco AP (2011) Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects. Behav Genet. 41:90-104. PMID: 21165691 [pdf]

2010

Newbury DF, Monaco AP. (2010) Genetic advances in the study of speech and language disorders. Neuron. 68(2):309-20. Review. PMID: 20955937 [pdf]

Addis L, Friederici AD, Kotz SA, Sabisch B, Barry J, Richter N, Ludwig AA, Rübsamen R, Albert FW, Pääbo S, Newbury DF, Monaco AP (2010) A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Genes Brain Behav. 9:545-561. PMID: 20345892 [pdf]

Newbury DF, Fisher SE, Monaco AP. Recent advances in the genetics of language impairment. Genome Med, 2(1):6. Review. PMID: 20193051 [pdf]

Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J. Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Mol Syndromol. 2010;1(5):246-254. PMID: 22140377 [pdf]

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, O'Hare A, Shaw D, Simkin Z, Simonoff E, Slonims V, Watson J, Ragoussis J, Fisher SE, Seckl JR, Helms PJ, Bolton PF, Pickles A, Conti-Ramsden G, Baird G, Bishop DV, Monaco AP. (2009) CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment. The American Journal of Human Genetics, 85:264-272. PMID: 19646677 [pdf & supplementary data]

Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP; The International Molecular Genetic Study of Autism Consortium (IMGSAC) (2009) Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. Am J Med Genet A. 149A(4):588-597. PMID: 19267418 [pdf]

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 (2008) A functional genetic link between distinct developmental language disorders. N Engl J Med, 359(22):2337-2345. PMID: 18987363 [pdf & supplementary data]

Winchester L, Newbury DF, Monaco AP, Ragoussis J (2008) Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays. Cytogenet Genome Res, 123(1-4):322-32. PMID: 19287171 [pdf]

Newbury DF, Monaco AP. (2008) The Application of Molecular Genetics to the Study of Language Impairments. In CF Norbury, JB Tomblin & DVM Bishop (Eds.), Understanding Developmental Language Disorders: From Theory to Practice (pp. 79-92). Psychology Press. July 2008

M. Falcaro, A. Pickles, D. F. Newbury, L. Addis, E. Banfield, S. E. Fisher, A. P. Monaco, Z. Simkin, G. Conti-Ramsden and The SLI Consortium (SLIC) (2008) Genetic and phenotypic effects of phonological shortterm memory and grammatical morphology in specific language impairment. Genes Brain Behav. 7(4):393-402. PMID: 18005161 [pdf]

2007

Monaco AP & SLIC (2007) Multivariate Linkage Analysis of Specific Language Impairment (SLI). Ann Hum Genet. 71(5):660-673. PMID: 17388790 [pdf]

Previous

Newbury DF, Bishop DV, Monaco AP. (2005) Genetic influences on language impairment and phonological short-term memory. Trends Cogn Sci. 9(11):528-34. Epub 2005. Review. PMID: 16188486 [pdf]

The SLI consortium (SLIC). (2004) Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet, 74(6):1225-38. PMID: 15133743 [pdf]

Newbury DF, Monaco AP. (2002) Molecular genetics of speech and language disorders.  Curr Opin Pediatr. 14(6):696-701. Review. PMID: 12436038 [pdf]

Newbury DF, Monaco AP. (2002) Talking genes - the molecular basis of language impairment. Biologist (London), 49(6):255-260. Review. PMID: 12486301 [pdf]

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; International Molecular Genetic Study of Autism Consortium.(2002) FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet. 70(5):1318-1327. PMID: 11894222 [pdf]

The SLI consortium (SLIC). (2002) A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet, 70(2):384-398. PMID: 11791209 [pdf]

FisherSE, 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 (2002) Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature Genet. 2002, 1:86-91. PMID:11743577 [pdf]

Fisher SE, Marlow AJ, Lamb J, Maestrini E, Williams DF, Richardson AJ, Weeks DE, SteinJF, Monaco AP (1999) A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am J. Hum. Genet. 1:146-156. PMID:9915953 [pdf]