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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
53 auth.
A. Alazami,
N. Patel,
H. Shamseldin,
S. Anazi,
M. Al-Dosari,
F. Alzahrani,
H. Hijazi,
M. Alshammari,
Mohammed A. Aldahmesh,
M. Salih,
E. Faqeih,
Amal M Alhashem,
F. Bashiri,
M. Al‐Owain,
A. Kentab,
...
Sameera Sogaty,
Saeed Al Tala,
M. Temsah,
M. Tulbah,
R. Aljelaify,
S. Alshahwan,
M. Z. Seidahmed,
Adnan A Alhadid,
H. Aldhalaan,
F. Alqallaf,
W. Kurdi,
M. Alfadhel,
Zainab H. Babay,
Mohammad Alsogheer,
N. Kaya,
Z. Al-Hassnan,
G. Abdel-Salam,
N. Al-Sannaa,
F. Al Mutairi,
Heba Y. El Khashab,
S. Bohlega,
X. Jia,
Henry C. Nguyen,
R. Hammami,
N. Adly,
Jawahir Y. Mohamed,
F. Abdulwahab,
N. Ibrahim,
E. Naim,
B. Al‐Younes,
B. Meyer,
M. Hashem,
R. Shaheen,
Y. Xiong,
M. Abouelhoda,
Abdulrahman A Aldeeri,
D. Monies,
F. Alkuraya
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8 |
2015 |
8
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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
79 auth.
G. Wheway,
M. Schmidts,
D. Mans,
K. Szymanska,
Thanh-Minh T. Nguyen,
Hilary Racher,
Ian G. Phelps,
G. Toedt,
Julie E. Kennedy,
K. Wunderlich,
N. Sorusch,
Z. Abdelhamed,
S. Natarajan,
W. Herridge,
J. V. Reeuwijk,
...
N. Horn,
K. Boldt,
D. Parry,
S. Letteboer,
S. Roosing,
M. Adams,
S. Bell,
J. Bond,
J. Higgins,
E. Morrison,
D. Tomlinson,
G. Slaats,
Teunis J. P. van Dam,
Lijia Huang,
K. Kessler,
A. Giessl,
C. Logan,
E. Boyle,
J. Shendure,
S. Anazi,
Mohammed A. Aldahmesh,
S. Hazzaa,
R. Hegele,
C. Ober,
P. Frosk,
A. Mhanni,
B. Chodirker,
A. Chudley,
R. Lamont,
F. Bernier,
C. Beaulieu,
P. Gordon,
R. Pon,
Clement Donahue,
A. Barkovich,
Louis Wolf,
C. Toomes,
C. Thiel,
K. Boycott,
M. Mckibbin,
C. Inglehearn,
F. Stewart,
H. Omran,
M. Huynen,
P. Sergouniotis,
P. Sergouniotis,
F. Alkuraya,
J. Parboosingh,
A. Innes,
C. Willoughby,
R. Giles,
A. Webster,
Andrew R Webster,
M. Ueffing,
M. Ueffing,
O. Blacque,
J. Gleeson,
U. Wolfrum,
P. Beales,
T. Gibson,
D. Doherty,
H. Mitchison,
R. Roepman,
Colin A. Johnson
|
7 |
2015 |
7
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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
8 auth.
Mohammed A. Aldahmesh,
Jawahir Y. Mohamed,
Hisham S. Alkuraya,
I. Verma,
R. Puri,
A. Alaiya,
...
W. Rizzo,
F. Alkuraya
|
7 |
2011 |
7
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Characterizing the morbid genome of ciliopathies
39 auth.
R. Shaheen,
K. Szymanska,
Basudha Basu,
N. Patel,
Nour Ewida,
E. Faqeih,
A. A. Al Hashem,
Nada Derar,
H. Alsharif,
Mohammed A. Aldahmesh,
A. Alazami,
M. Hashem,
N. Ibrahim,
F. Abdulwahab,
Rawda Sonbul,
...
Hisham S. Alkuraya,
M. Alnemer,
Saeed Al Tala,
M. Al-Husain,
H. Morsy,
M. Z. Seidahmed,
N. Meriki,
M. Al‐Owain,
S. Alshahwan,
B. Tabarki,
M. Salih,
T. Faquih,
M. El-Kalioby,
M. Ueffing,
K. Boldt,
C. Logan,
D. Parry,
Nada Al Tassan,
D. Monies,
A. Mégarbané,
M. Abouelhoda,
Anason S. Halees,
Colin A. Johnson,
F. Alkuraya
|
7 |
2016 |
7
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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
15 auth.
Mohammed A. Aldahmesh,
Yuanyuan Li,
Amal M Alhashem,
S. Anazi,
Hisham S. Alkuraya,
M. Hashem,
A. Awaji,
Sameera Sogaty,
Abdullah Alkharashi,
S. Alzahrani,
...
S. A. Al Hazzaa,
Y. Xiong,
Shanshan Kong,
Zhaoxia Sun,
F. Alkuraya
|
7 |
2014 |
7
🦁
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|
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Mutations in LRPAP1 are associated with severe myopia in humans.
15 auth.
Mohammed A. Aldahmesh,
Arif O. Khan,
Hisham S. Alkuraya,
N. Adly,
S. Anazi,
Ahmed A Al-saleh,
Jawahir Y. Mohamed,
H. Hijazi,
S. Prabakaran,
M. Tacke,
...
Abdullah Al-Khrashi,
M. Hashem,
T. Reinheckel,
A. Assiri,
F. Alkuraya
|
6 |
2013 |
6
🦁
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Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
30 auth.
N. Patel,
Mohammed A. Aldahmesh,
Hisham S. Alkuraya,
S. Anazi,
H. Alsharif,
Arif O. Khan,
Asma Sunker,
S. Al-mohsen,
E. Abboud,
S. Nowilaty,
M. Alowain,
H. Al-Zaidan,
B. Al-Saud,
A. Alasmari,
G. Abdel-Salam,
...
M. Abouelhoda,
F. Abdulwahab,
N. Ibrahim,
E. Naim,
B. Al‐Younes,
Abeer E. AlMostafa,
Abdulelah Alissa,
M. Hashem,
O. Buzovetsky,
Y. Xiong,
D. Monies,
N. AlTassan,
R. Shaheen,
Selwa A. F. Al-Hazzaa,
F. Alkuraya
|
6 |
2015 |
6
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|
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Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
12 auth.
A. Alazami,
H. Hijazi,
M. Al-Dosari,
R. Shaheen,
A. Hashem,
Mohammed A. Aldahmesh,
...
Jawahir Y. Mohamed,
A. Kentab,
M. Salih,
A. Awaji,
Tariq Ahmad Masoodi,
F. Alkuraya
|
6 |
2013 |
6
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Novel mutations in MERTK associated with childhood onset rod-cone dystrophy
13 auth.
D. Mackay,
R. Henderson,
P. Sergouniotis,
Zheng Li,
P. Moradi,
G. Holder,
N. Waseem,
S. Bhattacharya,
Mohammed A. Aldahmesh,
F. Alkuraya,
...
B. Meyer,
A. Webster,
A. Moore
|
6 |
2010 |
6
🐜
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|
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Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping
9 auth.
L. Safieh,
Mohammed A. Aldahmesh,
H. Shamseldin,
M. Hashem,
R. Shaheen,
Hisham S. Alkuraya,
...
S. Hazzaa,
A. Al‐Rajhi,
F. Alkuraya
|
6 |
2009 |
6
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