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Alistair Pagnamenta

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Alistair T Pagnamenta; Elham Sadighi Akha; Helen Stewart; Jenny C Taylor; Grace Yoon; Kaseem Ajilogba; Louise S Bicknell; Victoria Harrison; Andrew P Jackson; David A Keays; Usha Kini; Jennie E Murray; Samantha J L Knight
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Alistair T Pagnamenta; Gerardine Quaghebeur; Andy Rimmer; Helen Stewart; Jenny C Taylor; Elham Sadighi Akha; Alexander T Deng; Victoria Harrison; Sandeep Jayawant; Usha Kini; Samantha J L Knight; Stefano Lise; Iain Mathieson; Valerie Elizabeth Murphy; David A Keays
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Veronica J Vieland; Joachim Hallmayer; Yungui Huang; Hameed Khan; Anthony P Monaco; Alistair T Pagnamenta; Andrew D Paterson; Dalila Pinto; Stephen W Scherer; James S Sutcliffe; Peter Szatmari
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.

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All Publications

2012: Alistair T Pagnamenta; Elham Sadighi Akha; Helen Stewart; Jenny C Taylor; Grace Yoon; Kaseem Ajilogba; Louise S Bicknell; Victoria Harrison; Andrew P Jackson; David A Keays; Usha Kini; Jennie E Murray; Samantha J L Knight
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
American journal of medical genetics. Part A 2012;158A(10):2577-82.
2012: Alistair T Pagnamenta; Gerardine Quaghebeur; Andy Rimmer; Helen Stewart; Jenny C Taylor; Elham Sadighi Akha; Alexander T Deng; Victoria Harrison; Sandeep Jayawant; Usha Kini; Samantha J L Knight; Stefano Lise; Iain Mathieson; Valerie Elizabeth Murphy; David A Keays
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Journal of human genetics 2012;57(1):70-2.
2011: Veronica J Vieland; Joachim Hallmayer; Yungui Huang; Hameed Khan; Anthony P Monaco; Alistair T Pagnamenta; Andrew D Paterson; Dalila Pinto; Stephen W Scherer; James S Sutcliffe; Peter Szatmari
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 2011;3(2):113-23.
2011: Alistair T Pagnamenta; Richard Holt; Mohammed Yusuf; Dalila Pinto; Kirsty Wing; Catalina Betancur; Stephen W Scherer; Emanuela V Volpi; Anthony P Monaco
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Journal of neurodevelopmental disorders 2011;3(2):124-31.
2011: Alistair T Pagnamenta; Hameed Khan; Susan Walker; Dianne Gerrelli; Kirsty Wing; Maria Clara Bonaglia; Roberto Giorda; Tom Berney; Elisa Mani; Massimo Molteni; Dalila Pinto; Ann Le Couteur; Joachim Hallmayer; James S Sutcliffe; Peter Szatmari; Andrew D Paterson; Stephen W Scherer; Veronica J Vieland; Anthony P Monaco
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Journal of medical genetics 2011;48(1):48-54.
2010: Elisa Fassone; Andrew J Duncan; Jan-Willem Taanman; Alistair T Pagnamenta; Michael I Sadowski; Tatjana Holand; Waseem Qasim; Paul Rutland; Sarah E Calvo; Vamsi K Mootha; Maria Bitner-Glindzicz; Shamima Rahman
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Human molecular genetics 2010;19(24):4837-47.
2010: Elena Maestrini; Alistair T Pagnamenta; Janine A Lamb; Elena Bacchelli; N H Sykes; I Sousa; Claudio Toma; Gabrielle Barnby; H Butler; L Winchester; Thomas Scerri; F Minopoli; J Reichert; G Cai; Joseph Buxbaum; O Korvatska; Gerard D Schellenberg; Geraldine Dawson; A de Bildt; Ruud B Minderaa; E J Mulder; Andrew P Morris; Anthony J Bailey; Anthony P Monaco
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 2010;15(9):954-68.
2010: Alistair T Pagnamenta; Elena Bacchelli; Maretha V de Jonge; Ghazala Mirza; Thomas Scerri; Fiorella Minopoli; Andreas Chiocchetti; Kerstin U Ludwig; Per Hoffmann; Silvia Paracchini; Ernesto Lowy; Denise H Harold; Jade A Chapman; Sabine M Klauck; Fritz Poustka; Renske H Houben; Wouter G Staal; Roel A Ophoff; Michael C O'Donovan; Julie Williams; Markus M Nöthen; Gerd Schulte-Körne; Panos Deloukas; Jiannis Ragoussis; Anthony J Bailey; Elena Maestrini; Anthony P Monaco
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
Biological psychiatry 2010;68(4):320-8.
2010: Inês Sousa; Taane G Clark; Richard Holt; Alistair T Pagnamenta; Erik J Mulder; Ruud B Minderaa; Anthony J Bailey; Agatino Battaglia; Sabine M Klauck; Fritz Poustka; Anthony P Monaco
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
Molecular autism 2010;1(1):7.
2009: Nuala Sykes; Claudio Toma; Natalie Wilson; Emanuela V Volpi; Inês Sousa; Alistair T Pagnamenta; Raffaella Tancredi; Agatino Battaglia; Elena Maestrini; Anthony J Bailey; Anthony P Monaco
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
European journal of human genetics : EJHG 2009;17(10):1347-53.
2009: Alistair T Pagnamenta; Kirsty Wing; Elham Sadighi Akha; Samantha J L Knight; Sven Bölte; Gabriele Schmötzer; Eftichia Duketis; Fritz Poustka; Sabine M Klauck; Annemarie Poustka; Jiannis Ragoussis; Anthony J Bailey; Anthony P Monaco
A 15q13.3 microdeletion segregating with autism.
European journal of human genetics : EJHG 2009;17(5):687-92.
2009: Jan-Willem Taanman; Shamima Rahman; Alistair T Pagnamenta; Andrew A M Morris; Maria Bitner-Glindzicz; Nicole I Wolf; James V Leonard; Peter T Clayton; Anthony H V Schapira
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
Human mutation 2009;30(2):248-54.
2006: Alistair T Pagnamenta; Iain P Hargreaves; Andrew J Duncan; Jan-Willem Taanman; Simon J R Heales; John M Land; Maria Bitner-Glindzicz; James V Leonard; Shamima Rahman
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.
Molecular genetics and metabolism 2006;89(3):214-21.
2006: Alistair T Pagnamenta; Jan-Willem Taanman; Callum J Wilson; Neil E Anderson; Rosetta Marotta; Andrew J Duncan; Maria Bitner-Glindzicz; Robert W Taylor; Adrienne Laskowski; David R Thorburn; Shamima Rahman
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
Human reproduction (Oxford, England) 2006;21(10):2467-73.
2005: Orly Elpeleg; Chaya Miller; Eli Hershkovitz; Maria Bitner-Glindzicz; Gili Bondi-Rubinstein; Shamima Rahman; Alistair T Pagnamenta; Sharon Eshhar; Ann Saada (Reisch)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
American journal of human genetics 2005;76(6):1081-6.
2001: MJ Houseman; Lucy A Ellis; Alistair T Pagnamenta; Wei-Li Di; S Rickard; AH Osborn; Hans-Henrik M Dahl; Graham Taylor; Maria Bitner-Glindzicz; W Reardon; Robert F Mueller; David P Kelsell
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Journal of medical genetics 2001;38(1):20-5.