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Co-authors
(333)
Michael A. Patton
30
Michael J. A. Simpson
18
Christos Proukakis
14
Heema Patel
14
Steven L. A. Jeffery
14
Journals
(34)
AMER J HUM GENET
10
NAT GENET
7
Genomics
3
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3
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Authors
Andrew H. Crosby
Andrew H. Crosby,Saint George's Medical School University of London,Genetics & Genealogy,Neuroscience,Diseases
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Andrew H. Crosby
Saint George's Medical School University of London
Publications:
64
|
Citations:
1657
Fields:
Genetics & Genealogy
,
Neuroscience
,
Diseases
View FAQ about top research areas and Fields of study
Collaborated with
333 co-authors
from 1995 to 2011
|
Cited by
5386 authors
Cumulative
Annual
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Publications
(64)
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P40 A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance
S. Aharoni
,
G. Harlalka
,
A. Offiah
,
A. Shuper
,
A. H. Crosby
,
M. McEntagart
Journal:
Neuromuscular Disorders - NEUROMUSCULAR DISORD
, vol. 21, pp. S17-S17, 2011
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
(
Citations: 10
)
M. Zimon
,
J. Baets
,
M. Auer-Grumbach
,
J. Berciano
,
A. Garcia
,
E. Lopez-Laso
,
L. Merlini
,
D. Hilton-Jones
,
M. McEntagart
,
A. H. Crosby
,
N. Barisic
,
E. Boltshauser
http://academic.research.microsoft.com/io.ashx?type=5&id=37638258&selfId1=37303761&selfId2=0&maxNumber=12&query=
Journal:
Brain
, vol. 133, no. 6, pp. 1798-1809, 2010
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
(
Citations: 7
)
Katherine J. Dick
,
Matthias Eckhardt
,
Coro Paisán-Ruiz
,
Aisha Alkhayat Alshehhi
,
Christos Proukakis
,
Naomi A. Sibtain
,
Helena Maier
,
Reza Sharifi
,
Michael A. Patton
,
Wafa Bashir
,
Roshan Koul
,
Sandy Raeburn
Andrew H. Crosby
http://academic.research.microsoft.com/io.ashx?type=5&id=34040461&selfId1=37303761&selfId2=0&maxNumber=12&query=
Journal:
Human Mutation - HUM MUTAT
, vol. 31, no. 4, pp. E1251-E1260, 2010
Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination
(
Citations: 3
)
Alexander Pearlman
,
Johnny Loke
,
Cedric Le Caignec
,
Stefan White
,
Lisa Chin
,
Andrew Friedman
,
Nicholas Warr
,
John Willan
,
David Brauer
,
Charles Farmer
,
Eric Brooks
,
Carole Oddoux
Andrew H. Crosby
http://academic.research.microsoft.com/io.ashx?type=5&id=49005351&selfId1=37303761&selfId2=0&maxNumber=12&query=
Journal:
American Journal of Human Genetics - AMER J HUM GENET
, vol. 87, no. 6, pp. 898-904, 2010
Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia
(
Citations: 3
)
Andrew H. Crosby
,
Heema Patel
,
Barry A. Chioza
,
Christos Proukakis
,
Kay Gurtz
,
Michael A. Patton
,
Reza Sharifi
,
Gaurav Harlalka
,
Michael A. Simpson
,
Katherine Dick
,
Johanna A. Reed
,
Ali Al-Memar
http://academic.research.microsoft.com/io.ashx?type=5&id=49005327&selfId1=37303761&selfId2=0&maxNumber=12&query=
Journal:
American Journal of Human Genetics - AMER J HUM GENET
, vol. 87, no. 5, pp. 655-660, 2010
Sort by:
Citations
(1657 times by 1213 publications)
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
Tyler Mark Pierson
,
Dimitre R Simeonov
,
Murat Sincan
,
David A Adams
,
Thomas Markello
,
Gretchen Golas
,
Karin Fuentes-Fajardo
,
Nancy F Hansen
,
Praveen F Cherukuri
,
Pedro Cruz
,
Craig Blackstone
,
Cynthia Tifft
http://academic.research.microsoft.com/io.ashx?type=5&id=56548514&selfId1=37303761&selfId2=0&maxNumber=12&query=
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 20, no. 4, pp. 476-479, 2012
Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice
Xiaofang Wang
,
Suzhen Wang
,
Changcheng Li
,
Tian Gao
,
Ying Liu
,
Afsaneh Rangiani
,
Yao Sun
,
Jianjun Hao
,
Anne George
,
Yongbo Lu
,
Jay Groppe
,
Baozhi Yuan
http://academic.research.microsoft.com/io.ashx?type=5&id=57409895&selfId1=37303761&selfId2=0&maxNumber=12&query=
Journal:
PLOS Genetics - PLOS GENET
, vol. 8, no. 5, 2012
Transcriptional and PostTranscriptional Regulation of SPAST, the Gene Most Frequently Mutated in Hereditary Spastic Paraplegia
Brian J. Henson
,
Wan Zhu
,
Kelsey Hardaway
,
Jaime L. Wetzel
,
Mihaela Stefan
,
Kathryn M. Albers
,
Robert D. Nicholls
Journal:
PLOS One
, vol. 7, no. 5, 2012
The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates BioMineralization Proteins
Hiroyuki O. Ishikawa
,
Aiguo Xu
,
Eri Ogura
,
Gerard Manning
,
Kenneth D. Irvine
Journal:
PLOS One
, vol. 7, no. 8, 2012
Disorders of bile acid synthesis
(
Citations: 2
)
Peter Theodore Clayton
Journal:
Journal of Inherited Metabolic Disease - J INHERIT METAB DIS
, vol. 34, no. 3, pp. 593-604, 2011
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