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Co-authors
(404)
Anthony P. Monaco
11
Anthony J. Bailey
8
Dalila Pinto
7
Fritz Poustka
7
Kirsty Wing
7
Journals
(14)
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Authors
Alistair T. Pagnamenta
Alistair T. Pagnamenta,University of Oxford,Genetics & Genealogy,Molecular Biology,Neuroscience
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Alistair T. Pagnamenta
University of Oxford
Publications:
22
|
Citations:
499
Fields:
Genetics & Genealogy
,
Molecular Biology
,
Neuroscience
View FAQ about top research areas and Fields of study
Collaborated with
404 co-authors
from 1999 to 2012
|
Cited by
2949 authors
Cumulative
Annual
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Publications
(22)
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RefWorks
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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies
Alistair T Pagnamenta
,
Stefano Lise
,
Victoria Harrison
,
Helen Stewart
,
Sandeep Jayawant
,
Gerardine Quaghebeur
,
Alexander T Deng
,
Valerie Elizabeth Murphy
,
Elham Sadighi Akha
,
Andy Rimmer
,
Iain Mathieson
,
Samantha JL Knight
http://academic.research.microsoft.com/io.ashx?type=5&id=56556970&selfId1=23714619&selfId2=0&maxNumber=12&query=
Journal:
Journal of Human Genetics - J HUM GENET
, vol. 57, no. 1, pp. 70-72, 2012
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
Richard J L Anney
,
Elaine M Kenny
,
Colm O'Dushlaine
,
Brian L Yaspan
,
Elena Parkhomenka
,
Joseph D Buxbaum
,
James Sutcliffe
,
Michael Gill
,
Louise Gallagher
,
Bridget A Fernandez
,
Christian R Marshall
,
Dalila Pinto
Alistair T Pagnamenta
http://academic.research.microsoft.com/io.ashx?type=5&id=56548575&selfId1=23714619&selfId2=0&maxNumber=12&query=
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 19, no. 10, pp. 1082-1089, 2011
P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency
E. Fassone
,
A. J. Duncan
,
J.-W. Taanman
,
A. T. Pagnamenta
,
M. Sadowski
,
T. Holand
,
W. Qasim
,
P. Rutland
,
S. E. Calvo
,
V. K. Mootha
,
M. Bitner-Glindzicz
,
S. Rahman
Journal:
Neuromuscular Disorders - NEUROMUSCULAR DISORD
, vol. 21, pp. S19-S19, 2011
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism
Veronica J. Vieland
,
Joachim Hallmayer
,
Yungui Huang
,
Alistair T. Pagnamenta
,
Dalila Pinto
,
Hameed Khan
,
Anthony P. Monaco
,
Andrew D. Paterson
,
Stephen W. Scherer
,
James S. Sutcliffe
,
Peter Szatmari
Journal:
Journal of Neurodevelopmental Disorders - J NEURODEV DISORD
, vol. 3, no. 2, pp. 113-123, 2011
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
Alistair T. Pagnamenta
,
Richard Holt
,
Mohammed Yusuf
,
Dalila Pinto
,
Kirsty Wing
,
Catalina Betancur
,
Stephen W. Scherer
,
Emanuela V. Volpi
,
Anthony P. Monaco
Journal:
Journal of Neurodevelopmental Disorders - J NEURODEV DISORD
, vol. 3, no. 2, pp. 124-131, 2011
Sort by:
Citations
(499 times by 427 publications)
Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis
(
Citations: 2
)
D A Rossignol
,
R E Frye
Journal:
Molecular Psychiatry - MOL PSYCHIATR
, vol. 17, no. 3, pp. 290-314, 2012
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
Lisette Stolk
,
John R B Perry
,
Daniel I Chasman
,
Chunyan He
,
Massimo Mangino
,
Patrick Sulem
,
Maja Barbalic
,
Linda Broer
,
Enda M Byrne
,
Florian Ernst
,
Tõnu Esko
,
Nora Franceschini
http://academic.research.microsoft.com/io.ashx?type=5&id=56593560&selfId1=23714619&selfId2=0&maxNumber=12&query=
Journal:
Nature Genetics - NAT GENET
, vol. 44, no. 3, pp. 260-268, 2012
Rare structural variation of synapse and neurotransmission genes in autism
(
Citations: 2
)
X Gai
,
H M Xie
,
J C Perin
,
N Takahashi
,
K Murphy
,
A S Wenocur
,
M D'arcy
,
R J O'Hara
,
E Goldmuntz
,
D E Grice
,
T H Shaikh
,
H Hakonarson
http://academic.research.microsoft.com/io.ashx?type=5&id=56564746&selfId1=23714619&selfId2=0&maxNumber=12&query=
Journal:
Molecular Psychiatry - MOL PSYCHIATR
, vol. 17, no. 4, pp. 402-411, 2012
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond
,
Jutta Heinrich
,
Richard Delorme
,
Christian Proepper
,
Catalina Betancur
,
Guillaume Huguet
,
Marina Konyukh
,
Pauline Chaste
,
Elodie Ey
,
Maria Rastam
,
Henrik Anckarsäter
,
Gudrun Nygren
http://academic.research.microsoft.com/io.ashx?type=5&id=57409742&selfId1=23714619&selfId2=0&maxNumber=12&query=
Journal:
PLOS Genetics - PLOS GENET
, vol. 8, no. 2, 2012
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
(
Citations: 1
)
C M Durand
,
J Perroy
,
F Loll
,
D Perrais
,
L Fagni
,
T Bourgeron
,
M Montcouquiol
,
N Sans
Journal:
Molecular Psychiatry - MOL PSYCHIATR
, vol. 17, no. 1, pp. 71-84, 2012
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