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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
17 auth.
Mari E. K. Niemi,
H. Martin,
D. Rice,
G. Gallone,
S. Gordon,
Martin Kelemen,
K. McAloney,
J. McRae,
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Sui Yu,
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7 |
2018 |
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Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat
11 auth.
Sui Yu,
M. Mangelsdorf,
D. Hewett,
Lynne Hobson,
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7 |
1997 |
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Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
55 auth.
O. Gribouval,
V. Moriniére,
Audrey Pawtowski,
C. Arrondel,
S. Sallinen,
C. Saloranta,
C. Clericuzio,
G. Viot,
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N. Picard,
C. Baumann,
A. Delezoide,
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N. Chassaing,
P. Labrune,
Sui Yu,
H. Firth,
D. Wellesley,
M. Bitzan,
A. Alfares,
N. Braverman,
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B. Doray,
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A. Michaud,
C. Antignac,
M. Gubler
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6 |
2012 |
6
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Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH
22 auth.
J. Nicholl,
W. Waters,
J. Mulley,
Shanna Suwalski,
Sue Brown,
Yvonne Hull,
Christopher Barnett,
E. Haan,
E. Thompson,
J. Liebelt,
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Lesley Mcgregor,
M. Harbord,
J. Entwistle,
C. Munt,
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David Baulderstone,
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Array Referral Consortium,
K. Friend,
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Sui Yu
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5 |
2014 |
5
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De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review
7 auth.
A. Jolley,
M. Corbett,
Lesley Mcgregor,
W. Waters,
Susan H. Brown,
J. Nicholl,
...
Sui Yu
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5 |
2013 |
5
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Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review
12 auth.
D. Mordaunt,
A. Jolley,
S. Balasubramaniam,
D. Thorburn,
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Sui Yu
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5 |
2015 |
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Phenotypes of AKT3 deletion: A case report and literature review
Dayu Gai,
E. Haan,
M. Scholar,
J. Nicholl,
Sui Yu
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4 |
2015 |
4
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Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH
19 auth.
J. Nicholl,
W. Waters,
Shanna Suwalski,
Sue Brown,
Yvonne Hull,
M. Harbord,
J. Entwistle,
Suzanna C. Thompson,
Damian Clark,
Clair Pridmore,
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E. Haan,
Christopher Barnett,
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4 |
2013 |
4
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
200 auth.
Alicia B. Byrne,
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K. Kassahn,
L. Pais,
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H. Arachchi,
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Larry Babb,
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M. Frank,
Jinghua Feng,
Paul P. S. Wang,
D. Lawrence,
L. Eshraghi,
Luis Arriola,
J. Toubia,
Hung Nguyen,
Disna Abeysuriya,
L. Adès,
David J. Amor,
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Madhura Bakshi,
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Tiffany F. Boughtwood,
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Jonathan Clark,
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N. Manton,
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J. McGaughran,
Lesley Mcgregor,
Namita Mittal,
A. Moghimi,
L. Moore,
H. Albayrak,
J. Ng,
J. Nicholl,
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J. Pinner,
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C. Poulton,
Theresa Power,
M. Quinn,
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M. Regan,
Jonathan Rodgers,
S. Rorke,
R. Sachdev,
S. Sallevelt,
S. Sandaradura,
Maryam Shamassi,
Roshan Shamon,
Isabella Sherburn,
J. Slee,
A. Solinas,
E. Sugo,
E. Thompson,
S. Tripathy,
Anand Vasudevan,
M. Vazquez,
K. Verma,
Mthulisi Viki,
M. Wallis,
D. L. Webber,
M. Weber,
K. Whale,
Meredith Wilson,
L. Worgan,
Sui Yu,
G. McGillivray,
J. Pinner,
F. McKenzie,
R. Morrow,
T. Y. Khong,
L. Moore,
J. Liebelt,
A. Schreiber,
Sarah L. King-Smith,
T. Hardy,
Matilda R Jackson,
Christopher Barnett,
H. Scott
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4 |
2023 |
4
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