Matthew J. Farrer

Prof. Matthew J. Farrer

orcid

Research Focus & Metrics

Academic Career Length

34Years (1993-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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31 October 2003 in Science
Verified
Journal Article
Open access
PDF file
ASA. B. Singleton
A. B. Singleton
MFMatthew J. Farrer
Matthew J. Farrer
JJJ. Johnson
J. Johnson
ASA. Singleton
A. Singleton
SHS. Hague
S. Hague
KGK. Gwinn-Hardy
K. Gwinn-Hardy

1 November 2004 in Neuron
Verified
Journal Article
Closed access
AZAlexander Zimprich
Alexander Zimprich
SBSaskia Biskup
Saskia Biskup
PLPetra Leitner
Petra Leitner
PLPeter Lichtner
Peter Lichtner
MFMatthew J. Farrer
Matthew J. Farrer
TGThomas Gasser
Thomas Gasser

22 October 2009 in New England Journal of Medicine
Verified
Journal Article
Open access
PDF file
Ellen SidranskyEllen Sidransky
Ellen Sidransky
MNM.A. Nalls
M.A. Nalls
JAJ.O. Aasly
J.O. Aasly
JAJ. Aharon-Peretz
J. Aharon-Peretz
GAG. Annesi
G. Annesi
SZS.G. Ziegler
S.G. Ziegler
Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson's disease. Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson's disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel–Haenszel procedure used to estimate odds ratios across centers. All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non–Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non–Ashkenazi Jewish patients, and mutations were identified in 7%, showing that limited mutation screening can miss half the mutant alleles. The odds ratio for any GBA mutation in patients versus controls was 5.43 across centers. As compared with patients who did not carry a GBA mutation, those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were more likely to have atypical clinical manifestations. Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson's disease.

1 September 2004 in The Lancet
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Journal Article
Closed access
MCMarie-Christine Chartier-Harlin
Marie-Christine Chartier-Harlin
JKJennifer Kachergus
Jennifer Kachergus
CRChristophe Roumier
Christophe Roumier
VMVincent Mouroux
Vincent Mouroux
XDXavier Douay
Xavier Douay
ADAlain Destée
Alain Destée

1 July 2011 in The American Journal of Human Genetics
Verified
Journal Article
Closed access
CVCarles Vilarino-Guell
Carles Vilarino-Guell
CWChristian Wider
Christian Wider
OROwen A Ross
Owen A Ross
JDJustus C. Dachsel
Justus C. Dachsel
JKJennifer M. Kachergus
Jennifer M. Kachergus
MFMatthew J. Farrer
Matthew J. Farrer

23 May 2010 in Nature Medicine
Verified
Journal Article
Closed access
JOJose A Obeso
Jose A Obeso
MRMaría Cruz Rodríguez-Oroz
María Cruz Rodríguez-Oroz
CGChristopher G Goetz
Christopher G Goetz
CMConcepcion Marin
Concepcion Marin
JKJeffrey H Kordower
Jeffrey H Kordower
GHGlenda Halliday
Glenda Halliday