Dr Dianne Newbury
BSc, DPhil
Senior Lecturer
School of Biological and Medical Sciences
Role
I am a Senior Lecturer on the MSc Medical Genetics and Genomics programme and I am principal investigator of a research lab in the Department of Health and Life Sciences.
Areas of expertise:
- Gene mapping (linkage, association, sequencing)
- Speech and language disorders
- Neurodevelopmental disorders
Member of the Children and Young People Network.
Teaching and supervision
Modules taught
I am the module leader on:
- Clinical Genetics and Diagnostics (BIOS7006)
- Masters research project (BIOS7009)
I also teach on:
- Scientific Skills (BIOS4004)
- Professional and experimental skills (BIOS4005)
- Interrogating Genomes (BIOL5002)
- Molecular Biology (BIOS5011)
- Genetics (BIOS5012)
- Molecular Medicine (BIOS6007)
- Evidence-based medicine (BIOS6008)
- Neuroscience (BIOS6009)
- Undergraduate research projects (BIOS6010)
- Human Genetic Disease (BIOS7004)
Supervision
MSc Medical Genetics and Genomics programme
Research Students
Name | Thesis title | Completed |
---|---|---|
Alison Cotton | Special Educational Needs in the children and families of Armed Forces Personnel; are they over-represented and why might this be the case? | Active |
Gabrielle Mastrolonardo | Investigating the functional role of NFXL1 in the developing brain and how it relates to speech and language development | Active |
Jessica Peixihno | Unravelling the genetic relationships between auditory processing and speech and language | Active |
Research
UoA5: Genetics and Genomics
Research in my lab centres around genetic contributions to speech, language and Communication Disorders (SLCDs). A recent study found that, at school entry in the UK, approximately 10% of children are affected by speech, language or communication impairments (Norbury et al., 2016). As a group these children are less likely to meet educational targets (Norbury et al., 2015) and more likely to display symptoms of social, emotional and behavioural problems when compared to their peers (Norbury et al., 2016).
But yet, we do not know why some children have language difficulties or how these difficulties relate to other aspects of neurodevelopment and behaviour. In our lab, we are trying to identify genetic factors that might play a role in these disorders. We investigate this problem through a mixture of research questions and by studying individuals, families and populations.
This research is important because it will help us to understand why some children have language difficulties and what brain processes are important in language learning. It may allow us to identify new kinds of language disorders and will clarify the relationships between language impairment and other developmental disorders.
Research group membership
- Hayley Mountford (Post-doc)
- Dr Aditi Pradhan (Post-doc)
- Lidiya Talbot (PhD student)
- Jessica Peixihno (PhD student)
Research projects
Studies show that developmental language disorders run in families - a brother or sister of someone who has already been diagnosed will have an increased risk of developing the disorder themselves. There are two possible situations which may explain this observation:
- something in the family environment causes the language disorder; or
- developmental language disorders are genetic and is therefore caused (at least in part) by the genes passed on from parents to children.
Although there is strong evidence for the role of a genetic component in language disorder, we do not know which genes contribute to this disorder or how the inheritance of language problems work. In most cases, it is likely that several genes combine to bring about a heightened risk of disorder. This is known as a complex genetic disorder. Working closely with other collaborators active in this field, we aim to identify specific genetic variants that cause this predisposition and to investigate the kinds of biological processes that they take part in.
The work in our lab is split into different project areas. You can find out more about each area on our research website.
Research impact
Our research impacts upon our understanding of the biological processes underlying speech and language development. This will be relevant to families of affected individuals and has impact upon research in psychology, neuroscience and education.
Groups
Projects
- Chilean Language and Reading Alliance (CLARA)
- Backwards Speech
- Programa Educacional para a promocao da Linguagem Infantil (PROLIN)
- Robinson Crusoe
- Using gene networks to identify genes that contribute to neurodevelopmental disorders
Projects as Principal Investigator, or Lead Academic if project is led by another Institution
- Rethinking special educational needs (led by the University of York) (01/05/2023 - 30/04/2026), funded by: Nuffield Foundation, funding amount received by Brookes: £13,470
Projects as Co-investigator
- Supporting ALL to thrive: Developing a holistic understanding of the impact of Service life on the education of children with Special Educational Needs and Disabilities (SEND/ASN/ALN) and their families.(01/03/2024 - 31/08/2025), funded by: Armed Forces Covenant Fund Trust, funding amount received by Brookes: £60,000, funded by: Armed Forces Covenant Fund Trust
- The Genetics of Motor Coordination(04/09/2023 - 31/03/2025), funded by: The Waterloo Foundation, funding amount received by Brookes: £59,994, funded by: The Waterloo Foundation
Publications
Journal articles
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Pradhan A, Mountford H, Peixinho J, Rea E, Epeslidou E, Scott JS, Cull J, Maxwell S, Webster R, Beeson D, Dong Y, Prekovic S, Bermudez I, Newbury DF, Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech
Cellular and Molecular Life Sciences 81 (2024) ISSN: 1420-682X eISSN: 1420-9071 Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech Open Access version on RADAR -
Toseeb U, Vincent J, Oginni OA, Asbury K, Newbury DF, The Development of Mental Health Difficulties in Young People with and without Developmental Language Disorder: A Gene-Environment Interplay Study Using Polygenic Scores
Journal of Speech, Language, and Hearing Research [online first] (2023) ISSN: 1092-4388 eISSN: 1558-9102 The Development of Mental Health Difficulties in Young People with and without Developmental Language Disorder: A Gene-Environment Interplay Study Using Polygenic Scores Open Access version on RADAR -
Wilson K, Newbury DF, Kini U, Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways
Human Molecular Genetics 32 (11) (2023) pp.1932-1942 ISSN: 0964-6906 eISSN: 1460-2083 Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways Open Access version on RADAR -
Abbondanza F, Dale PS, Wang CA, Hayiou-Thomas ME, Toseeb U, Koomar TS, Wigg KG, Feng Y, Price KM, Kerr EN, Guger SL, Lovett MW, Strug LJ, van Bergen E, Dolan CV, Tomblin JB, Moll K, Schulte-Körne G, Neuhoff N, Warnke A, Fisher SE, Barr CL, Michaelson JJ, Boomsma I, Snowling MJ, Hulme C, Whitehouse AJO, Pennell CE, Newbury DF, Stein J, Talcott JB, Bishop DVM, Paracchini S, Language and reading impairments are associated with increased prevalence of non-right handedness
Child Development 94 (4) (2023) pp.970-984 ISSN: 0009-3920 eISSN: 1467-8624 Language and reading impairments are associated with increased prevalence of non-right handedness Open Access version on RADAR -
Doust C, Fontanillas P, Eising E, Gordon SD, Wang Z, Alagöz G, Molz B, 23andMe Research Team, Quantitative Trait Working Group of the GenLang Consortium, St Pourcain B, Francks C, Marioni RE, Zhao J, Paracchini S, Talcott JB, Monaco AP, Stein JF, Gruen JR, Olson RK, Willcutt G, DeFries JC, Pennington BF, Smith SD, Wright MJ, Martin NG, Auton A, Bates TC, Fisher S, Luciano M, DISCOVERY OF 42 GENOME-WIDE SIGNIFICANT LOCI ASSOCIATED WITH DYSLEXIA
Nature Genetics 54 (2022) pp.1621-1629 ISSN: 1061-4036 eISSN: 1546-1718 DISCOVERY OF 42 GENOME-WIDE SIGNIFICANT LOCI ASSOCIATED WITH DYSLEXIA Open Access version on RADAR -
Ramacciotti MCC, Sousa H, Silveira HG, Hulme C, Snowling MJ, Newbury DF, Puglisi ML, Scaling up Early Language Intervention in Educational Settings: First Steps Matter
Oxford Review of Education 49 (1) (2022) pp.29-47 ISSN: 0305-4985 eISSN: 1465-3915 Scaling up Early Language Intervention in Educational Settings: First Steps Matter Open Access version on RADAR -
Eising E, Mirza-Schreiber N, de Zeeuw EL, Wang CA, Truong DT, Allegrini AG, Shapland CY, Zhu G, Wigg KG, Gerritse M, Molz B, Alagöz G, Gialluisi A, Abbondanza F, Rimfeld K, van Donkelaar M, Liao Z, Jansen PR, Andlauer TFM, Bates TC, Bernard M, Blokland K, Bonte M, Børglum AD, Bourgeron T, Brandeis D, Ceroni F, Csépe V, Dale PS, de Jong PF, DeFries JC, Demontis D, Feng Y, Gordon SD, Guger SL, Hayiou-Thomas ME, Hernández-Cabrera JA, Hottenga J-J, Hulme C, Kere J, Kerr EN, Koomar T, Landerl K, Leonard G, Lovett MW, Lyytinen H, Martin NG, Martinelli A, Maurer U, Michaelson JJ, Moll K, Monaco AP, Morgan AT, Noethen MM, Pausova Z, Pennell CE, Pennington BF, Price KM, Rajagopal VM, Ramus F, Richer L, Simpson NH, Smith S, Snowling MJ, Stein J, Strug LJ, Talcott JB, Tiemeier H, van der Schroef MMP, Verhoef E, Watkins KE, Wilkinson M, Wright MJ, Barr CL, Boomsma DI, Carreiras M, Franken M-CJ, Gruen JR, Luciano M, Müller-Myhsok B, Newbury DF, Olson RK, Paracchini S, Paus T, Plomin R, Reilly S, Schulte-Körne G, Tomblin B, van Bergen E, Whitehouse AJO, Willcutt EG, St Pourcain B, Francks C, Fisher SE, 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 119 (35) (2022) ISSN: 0027-8424 eISSN: 1091-6490 Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people Open Access version on RADAR -
Peixinho J, Toseeb U, Mountford HS, Bermudez I, Newbury DF, The effects of prenatal smoke exposure on language development- a systematic review
Infant and Child Development 31 (4) (2022) ISSN: 1522-7227 eISSN: 1522-7219 The effects of prenatal smoke exposure on language development- a systematic review Open Access version on RADAR -
Newbury DF, Mesa C, Puglisis M, Nash M, Nag S, Hulme C, Snowling MJ, Challenges for Implementation in Diverse Settings: reflections on two randomised controlled trials of educational interventions in South American communities.
Research Papers in Education 38 (6) (2022) pp.966-986 ISSN: 0267-1522 eISSN: 1470-1146 Challenges for Implementation in Diverse Settings: reflections on two randomised controlled trials of educational interventions in South American communities. Open Access version on RADAR -
Mountford H, Braden R, Newbury DF, Morgan A, The genetic and molecular basis of developmental language disorder: A review
Children 9 (5) (2022) ISSN: 2227-9067 eISSN: 2227-9067 The genetic and molecular basis of developmental language disorder: A review Open Access version on RADAR -
Rashaid AB, Alqhazo M, Kanaan H, Newbury DF El-khateeb M, Abukashabeh A, Al-Tamimi F, Evaluation of Elements in Hair Samples of Children with Developmental Language Disorder (DLD)
Nutritional Neuroscience: An International Journal on Nutrition, Diet and Nervous System 26 (2) (2022) pp.138-147 ISSN: 1476-8305 eISSN: 1476-8305 Evaluation of Elements in Hair Samples of Children with Developmental Language Disorder (DLD) Open Access version on RADAR -
Mountford HS, Hill A, Barnett AL, Newbury DF, Genome Wide Association Study of Motor Coordination
Frontiers in Human Neuroscience 15 (2021) ISSN: 1662-5161 eISSN: 1662-5161 Genome Wide Association Study of Motor Coordination Open Access version on RADAR -
Martinelli A, Rice ML, Talcott JB, Diaz R, Smith S, Raza MH, Snowling MJ, Hulme C, Stein J, Hayiou-Thomas ME, Hawi Z, Kent L, Pitt SJ, NewburyDF and Paracchini S, A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures
Human Molecular Genetics 30 (12) (2021) pp.1160-1171 ISSN: 0964-6906 eISSN: 1460-2083 A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures Open Access version on RADAR -
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel A-L, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen A, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Blok LS, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-dos-Santos JH, Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM , Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
American Journal of Human Genetics 108 (2) (2021) pp.346-356 ISSN: 0002-9297 eISSN: 1537-6605 Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Open Access version on RADAR -
Perrino P, Newbury DF, Fitch RH, Peripheral anomalies in USH2A cause Central Auditory Anomalies in a Mouse Model of Usher syndrome and CAPD
Genes 12 (2) (2021) ISSN: 2073-4425 Peripheral anomalies in USH2A cause Central Auditory Anomalies in a Mouse Model of Usher syndrome and CAPD Open Access version on RADAR -
Thompson PA, Bishop, DVM, Eising E, Fisher SE, Newbury DF, Generalized Structured Component Analysis in candidate gene association studies: applications and limitations
Wellcome Open Research 4 (2021) ISSN: 2398-502X eISSN: 2398-502X Generalized Structured Component Analysis in candidate gene association studies: applications and limitations Open Access version on RADAR -
Gibson JL, Newbury DF, Durkin K, Pickles A, Conti-Ramsden G, Toseeb U, Pathways from the Early Language and Communication Environment to Literacy Outcomes at the End of Primary School; The Roles of Language Development and Social Development
Oxford Review of Education 47 (2) (2020) pp.260-283 ISSN: 0305-4985 eISSN: 1465-3915 Pathways from the Early Language and Communication Environment to Literacy Outcomes at the End of Primary School; The Roles of Language Development and Social Development Open Access version on RADAR -
Mountford HS, Villanueva P, Fernández MA, Jara L, De Barbieri Z, Carvajal-Carmona LG, Cazier JB, Newbury DF, The Genetic Population Structure of Robinson Crusoe Island, Chile
Frontiers in Genetics 11 (2020) ISSN: 1664-8021 eISSN: 1664-8021 The Genetic Population Structure of Robinson Crusoe Island, Chile Open Access version on RADAR -
Toseeb U, Gibson JL, Newbury DF, Orlik W, Durkin K, Pickles A, Conti-Ramsden G, Play and Prosociality are Associated with Fewer Externalising Problems in Children with Developmental Language Disorder: The Role of Early Language and Communication Environment
International Journal of Language & Communication Disorders 55 (4) (2020) pp.583-602 ISSN: 1368-2822 eISSN: 1460-6984 Play and Prosociality are Associated with Fewer Externalising Problems in Children with Developmental Language Disorder: The Role of Early Language and Communication Environment Open Access version on RADAR -
Mountford H, Bishop DVM, Thompson PA, Simpson NH, Newbury DF, Copy Number Variation (CNV) burden does not predict severity of Neurodevelopmental Phenotype in Children with a Sex Chromosome Trisomy
American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184 (2) (2020) pp.256-266 ISSN: 1552-4868 eISSN: 1552-4876 Copy Number Variation (CNV) burden does not predict severity of Neurodevelopmental Phenotype in Children with a Sex Chromosome Trisomy Open Access version on RADAR -
Mesa C, Newbury DF, Nash M, Clarke P, Esposito R, Elliott L, De Barbieri Z, Fernandez MA, Villanueva P, Hulme C, Snowling MJ, The Effects of Reading and Language Intervention on Literacy Skills in Children in a Remote Community: An Exploratory Randomized Controlled Trial
International Journal of Educational Research 100 (2020) ISSN: 0883-0355 eISSN: 1873-538X The Effects of Reading and Language Intervention on Literacy Skills in Children in a Remote Community: An Exploratory Randomized Controlled Trial Open Access version on RADAR -
Perrino PA, Nedevska L, Reader R, Hill A, Rendall AR, Mountford HS, Taylor J, Buscarello AN, Lahiri N, Saggar A, Fitch RH, Newbury DF, Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes
Communications Biology 3 (2020) ISSN: 2399-3642 Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes Open Access version on RADAR -
Newbury DF, Gibson JL, Conti-Ramsden G, Pickles A, Durkin K, Toseeb U, Using Polygenic Profiles to Predict Variation in Language and Psychosocial Outcomes in Early and Middle Childhood
Journal of Speech, Language, and Hearing Research 62 (9) (2019) pp.3381-3396 ISSN: 1092-4388 eISSN: 1558-9102 Using Polygenic Profiles to Predict Variation in Language and Psychosocial Outcomes in Early and Middle Childhood Open Access version on RADAR -
Mountford HS, Villanueva, Fernández MA, De Barbieri Z, Cazier J-B, Newbury DF, Candidate Gene Variant Effects on Language Disorders in Robinson Crusoe Island
Annals of Human Biology 46 (2) (2019) pp.109-119 ISSN: 0301-4460 eISSN: 1464-5033 Candidate Gene Variant Effects on Language Disorders in Robinson Crusoe Island Open Access version on RADAR -
Newbury DF, Simpson NH, Thompson PA, Bishop DVM, Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis
Wellcome Open Research 3 (85) (2018) ISSN: 2398-502X Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis Open Access version on RADAR -
De Barbieri Z, Fernandez MA, Newbury DF, Villanueva P, Family aggregation of Language Impairment in an Isolated Chilean Population from the Robinson Crusoe Island
International Journal of Language & Communication Disorders 53 (3) (2018) pp.643-655 ISSN: 1368-2822 eISSN: 1460-6984 Family aggregation of Language Impairment in an Isolated Chilean Population from the Robinson Crusoe Island Open Access version on RADAR -
Newbury DF, Simpson NH, Thompson PA, Bishop DVM, Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis
Wellcome Open Research 3 (10) (2018) ISSN: 2398-502X Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis Open Access version on RADAR -
Mountford HS, Newbury DF, The Genomic Landscape of Language Disorders: Insights into Evolution
Journal of Language Evolution 3 (1) (2018) pp.49-58 ISSN: 2058-4571 eISSN: 2058-458X The Genomic Landscape of Language Disorders: Insights into Evolution Open Access version on RADAR -
Grabitz CR, Button KS, Munafò MR, Newbury DF, Pernet CR, Thompson PA,Bishop DVM, Logical and methodological issues affecting genetic studies of humans reported in top neuroscience journals
Journal of Cognitive Neuroscience 30 (1) (2017) pp.25-41 ISSN: 0898-929X eISSN: 1530-8898 Logical and methodological issues affecting genetic studies of humans reported in top neuroscience journals Open Access version on RADAR -
Chen XS, Reader RH, Hoischen A, Veltman JA, Simpson NH, Francks C, Newbury DF, Fisher SE, Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment
Scientific Reports 7 (2017) ISSN: 2045-2322 eISSN: 2045-2322 Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment Open Access version on RADAR -
Devanna P, Chen S, Ho J, Gajewski D, Smith SD, Gialluisi A, Francks C, Fisher SE, Newbury DF, Vernes SC, Next-gen sequencing identifies non-coding variation disrupting miRNA binding sites in neurological disorders
Molecular Psychiatry 23 (2017) pp.1375-1384 ISSN: 1359-4184 eISSN: 1476-5578 Next-gen sequencing identifies non-coding variation disrupting miRNA binding sites in neurological disorders Open Access version on RADAR -
Pettigrew KA, Frinton E, Nudel R, Chan MTM, 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) (2016) pp.1-8 ISSN: 1866-1947 eISSN: 1866-1955 Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes Open Access version on RADAR -
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 25 (9) (2016) pp.1771-1779 ISSN: 0964-6906 eISSN: 1460-2083 The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts Open Access version on RADAR -
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.
Scientific Reports 6 (2016) pp.1-15 ISSN: 2045-2322 Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation. Open Access version on RADAR -
Reader RH, Covill LE, Nudel R, Newbury DF., Genome-Wide Studies of Specific Language Impairment
Current Behavioral Neuroscience Reports 1 (4) (2015) pp.242-250 ISSN: 2196-2979 -
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'.
European Journal of Human Genetics 23 (2015) pp.1113-1115 ISSN: 1018-4813 eISSN: 1476-5438 -
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 13 (4) (2015) pp.418-429 ISSN: 1932-6203 -
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Magdalena Echeverry M, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER; 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 11 (3) (2015) ISSN: 1553-7390 eISSN: 1553-7404 -
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.
Molecular Cytogenetics 8 (36) (2015) ISSN: 1755-8166 eISSN: 1755-8166 -
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 and Behavior 14 (4) (2015) pp.369-376 ISSN: 1601-1848 -
Simpson NH, Ceroni F, Reader RH, Covill LE, Knight JC; 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.
European Journal of Human Genetics 23 (2015) pp.1370-1377 ISSN: 1018-4813 eISSN: 1476-5438 -
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., Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
European Journal of Human Genetics 22 (2014) pp.1165-1171 ISSN: 1018-4813 eISSN: 1476-5438 -
Genome-wide screening for DNA variants associated with reading and language traits. Gialluisi A, Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler WM, Pennington BF, Smith SD, Scerri TS, Simpson NH; 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 and Behavior 13 (7) (2014) pp.686-701 ISSN: 1601-1848 -
Newbury DF, Monaco AP, Paracchini S., Reading and language disorders: the importance of both quantity and quality.
Genes 5 (2) (2014) pp.285-309 ISSN: 2073-4425 -
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; SLI Consortium., Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
Developmental Medicine & Child Neurology 56 (4) (2014) ISSN: 0012-1622 eISSN: 1469-8749 -
Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER; SLI Consortium, 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 (4) (2014) ISSN: 1601-1848 -
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.
Research in Autism Spectrum Disorders 7 (2) (2014) ISSN: 1750-9467 -
Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER; SLI Consortium, Monaco AP, Knight JC, Winney B, Fisher SE, Newbury DF., Associations of HLA alleles with specific language impairment.
Journal of Neurodevelopmental Disorders 6 (1) (2014) ISSN: 1866-1947 -
Nudel R, Newbury DF., FOXP2
WIREs: Cognitive Science 4 (2013) pp.547-560 ISSN: 1939-5078
Book chapters
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Mountford H, Braden R, Morgan A, Newbury DF, Genetic Studies of Language Disorders
in James Law, Sheena Reilly, Cristina McKean (ed.), Language Development: Individual Differences in a Social Context, Cambridge University Press (2022) ISBN: 9781108494090 eISBN: 9781108643719 Genetic Studies of Language Disorders Open Access version on RADAR -
Mountford H, Newbury DF, The Genetics of Language Acquisition
in J.S. Horst and J von Koss Torkildsen (ed.), The International Handbook of Language Acquisition, Routledge (2019) ISBN: 9781138087217 eISBN: 9781315110622 The Genetics of Language Acquisition Open Access version on RADAR -
Nudel R, Ceroni F, Simpson N, Newbury DF, The genetics of specific language impairment (SLI)
in Stavrakaki S (ed.), Specific Language Impairment, John Benjamins Publishing Company (2015) ISBN: 9789027253217 The genetics of specific language impairment (SLI) Open Access version on RADAR
Other publications
- 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
- 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
- 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
- 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
- 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
- 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
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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
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
- Nudel R, Newbury DF (2013) FOXP2. Wiley Interdisciplinary Reviews: Cognitive Science 2013, 4:547-560.
- 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
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
- 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 | ISBN-13: 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
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
- 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
- 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
2010
- Newbury DF, Monaco AP. (2010) Genetic advances in the study of speech and language disorders. Neuron. 68(2):309-20. Review. PMID: 20955937
- 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
- Newbury DF, Fisher SE, Monaco AP. Recent advances in the genetics of language impairment.Genome Med, 2(1):6. Review. PMID: 20193051
- 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
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
- 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
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
- 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
- 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
2007
- Monaco AP & SLIC (2007) Multivariate Linkage Analysis of Specific Language Impairment (SLI).Ann Hum Genet. 71(5):660-673. PMID: 17388790
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
- 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
- Newbury DF, Monaco AP. (2002) Molecular genetics of speech and language disorders. Curr Opin Pediatr. 14(6):696-701. Review. PMID: 12436038
- Newbury DF, Monaco AP. (2002) Talking genes - the molecular basis of language impairment.Biologist (London), 49(6):255-260. Review. PMID: 12486301
- 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
- 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
- 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
- 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