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🐜
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Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
13 auth.
D. Godler,
F. Tassone,
D. Loesch,
Annette K. Taylor,
Freya Gehling,
R. Hagerman,
T. Burgess,
D. Ganesamoorthy,
Deborah D. Hennerich,
L. Gordon,
...
Andrew Evans,
K. Choo,
H. Slater
|
6 |
2010 |
6
🐜
|
|
🐜
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
29 auth.
F. Béna,
D. Bruno,
Mats A. Eriksson,
C. V. van Ravenswaaij-Arts,
Zornitza Stark,
T. Dijkhuizen,
E. Gerkes,
S. Gimelli,
D. Ganesamoorthy,
Ann-Charlotte Thuresson,
A. Labalme,
M. Till,
F. Bilan,
L. Pasquier,
A. Kitzis,
...
Christele Dubourgm,
M. Rossi,
A. Bottani,
M. Gagnebin,
D. Sanlaville,
B. Gilbert-Dussardier,
M. Guipponi,
A. van Haeringen,
M. Kriek,
C. Ruivenkamp,
S. Antonarakis,
B. Anderlid,
H. Slater,
J. Schoumans
|
6 |
2013 |
6
🐜
|
|
🐜
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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
28 auth.
D. Bruno,
D. Ganesamoorthy,
J. Schoumans,
Agnes Bankier,
David Coman,
M. Delatycki,
R. Gardner,
M. Hunter,
Paul A. James,
Peter Kannu,
George McGillivray,
N. Pachter,
Heidi Peters,
Claudine Rieubland,
Ravi Savarirayan,
...
Ingrid E. Scheffer,
L. J. Sheffield,
T. Tan,
Susan M. White,
Susan M. White,
A. Yeung,
Z. Bowman,
C. Ngo,
K. Choy,
V. Cacheux,
Lee H. Wong,
David J. Amor,
H. Slater
|
6 |
2008 |
6
🐜
|
|
🐬
|
Streaming algorithms for identification of pathogens and antibiotic resistance potential from real-time MinIONTM sequencing
Minh Duc Cao,
D. Ganesamoorthy,
Alysha G. Elliott,
Huihui Zhang,
M. Cooper,
L. Coin
|
6 |
2015 |
6
🐬
|
|
🐜
|
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
16 auth.
D. Bruno,
Susan M. White,
D. Ganesamoorthy,
T. Burgess,
K. Butler,
Sylvea Corrie,
David Francis,
L. Hills,
K. Prabhakara,
C. Ngo,
...
F. Norris,
R. Oertel,
M. Pertile,
Zornitza Stark,
David J. Amor,
H. Slater
|
6 |
2011 |
6
🐜
|
|
🐜
|
Phenotypic variability of distal 22q11.2 copy number abnormalities
16 auth.
T. Tan,
A. Collins,
P. James,
G. McGillivray,
Zornitza Stark,
C. T. Gordon,
R. Leventer,
K. Pope,
R. Forbes,
J. Crolla,
...
D. Ganesamoorthy,
T. Burgess,
D. Bruno,
H. Slater,
P. Farlie,
D. Amor
|
6 |
2011 |
6
🐜
|
|
🐜
|
Multifactorial chromosomal variants regulate polymyxin resistance in extensively drug-resistant Klebsiella pneumoniae
10 auth.
Miranda E. Pitt,
Alysha G. Elliott,
Minh Duc Cao,
D. Ganesamoorthy,
I. Karaiskos,
H. Giamarellou,
...
C. Abboud,
M. Blaskovich,
M. Cooper,
L. Coin
|
5 |
2017 |
5
🐜
|
|
🐜
|
Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high‐resolution SNP microarrays
16 auth.
D. Bruno,
Zornitza Stark,
D. Amor,
T. Burgess,
K. Butler,
Sylvea Corrie,
D. Francis,
D. Ganesamoorthy,
L. Hills,
P. James,
...
D. O’Rielly,
R. Oertel,
R. Savarirayan,
K. Prabhakara,
Nicholas Salce,
H. Slater
|
5 |
2011 |
5
🐜
|
|
🦁
|
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
10 auth.
D. Ganesamoorthy,
D. Bruno,
J. Schoumans,
E. Storey,
M. Delatycki,
Danqing Zhu,
...
Morgan K Wei,
G. Nicholson,
R. M. McKinlay Gardner,
H. Slater
|
5 |
2009 |
5
🦁
|
