|
🐜
|
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
48 auth.
S. Anazi,
S. Maddirevula,
E. Faqeih,
Haifa Alsedairy,
F. Alzahrani,
H. Shamseldin,
N. Patel,
M. Hashem,
N. Ibrahim,
F. Abdulwahab,
Nour Ewida,
H. Alsaif,
H. A. Sharif,
W. Alamoudi,
A. Kentab,
...
F. Bashiri,
M. Alnaser,
A. Alwadei,
M. Alfadhel,
W. Eyaid,
A. Hashem,
A. Asmari,
M. M. Saleh,
Abdulaziz Al-Saman,
Khalid Alhasan,
M. Alsughayir,
M. A. Shammari,
Adel A.H. Mahmoud,
Z. Al-Hassnan,
M. Al-Husain,
R. Khalil,
N. A. El-Meguid,
Amira Masri,
R. Ali,
T. Ben-Omran,
P. El.Fishway,
A. Hashish,
A. E. Sencicek,
Matthew W. State,
A. Alazami,
M. A. Salih,
Nada A Al-Tassan,
Stefan T. Arold,
M. Abouelhoda,
S. Wakil,
D. Monies,
R. Shaheen,
F. Alkuraya
|
7 |
2017 |
7
🐜
|
|
🐜
|
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
🐜
|
|
🐜
|
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
7 auth.
R. Shaheen,
Lu Han,
E. Faqeih,
Nour Ewida,
Eman Alobeid,
E. Phizicky,
...
F. Alkuraya
|
7 |
2016 |
7
🐜
|
|
🐜
|
The genetic landscape of familial congenital hydrocephalus
29 auth.
R. Shaheen,
M. Sebai,
N. Patel,
Nour Ewida,
W. Kurdi,
I. Altweijri,
Sameera Sogaty,
Elham Almardawi,
M. Z. Seidahmed,
Abdulrahman Alnemri,
Sateesh Madirevula,
N. Ibrahim,
F. Abdulwahab,
M. Hashem,
Tarfa Al‐Sheddi,
...
Rana Alomar,
Eman Alobeid,
B. Sallout,
B. Albaqawi,
W. AlAali,
Nouf Ajaji,
Harry Lesmana,
R. Hopkin,
L. Dupuis,
R. Mendoza-Londono,
Hadeel Al Rukban,
G. Yoon,
E. Faqeih,
F. Alkuraya
|
6 |
2017 |
6
🐜
|
|
🐜
|
Molecular autopsy in maternal–fetal medicine
35 auth.
H. Shamseldin,
W. Kurdi,
Fatima Almusafri,
M. Alnemer,
Alya Alkaff,
Zeneb A. Babay,
Amal M Alhashem,
M. Tulbah,
Nada Alsahan,
R. Khan,
B. Sallout,
E. Mardawi,
Mohamed Zain Seidahmed,
Niema Meriki,
Yasser Alsaber,
...
A. Qari,
O. Khalifa,
W. Eyaid,
Z. Rahbeeni,
A. Kurdi,
M. Hashem,
Tarfa Alshidi,
Eman Al-Obeid,
F. Abdulwahab,
N. Ibrahim,
Nour Ewida,
Karen El-Akouri,
M. A. Mulla,
T. Ben-Omran,
M. Pergande,
S. Çırak,
S. A. Tala,
R. Shaheen,
E. Faqeih,
F. Alkuraya
|
6 |
2017 |
6
🐜
|
|
🐜
|
Genomic and phenotypic delineation of congenital microcephaly
47 auth.
R. Shaheen,
S. Maddirevula,
Nour Ewida,
Saud Alsahli,
G. Abdel-Salam,
M. Zaki,
S. A. Tala,
Amal M Alhashem,
Ameen Softah,
M. Al‐Owain,
A. Alazami,
Basma Abadel,
N. Patel,
Tarfa Al‐Sheddi,
Rana Alomar,
...
Eman Alobeid,
N. Ibrahim,
M. Hashem,
F. Abdulwahab,
M. Hamad,
B. Tabarki,
A. Alwadei,
Fahad Alhazzani,
F. Bashiri,
A. Kentab,
Serdar Şahi̇ntürk,
E. Sherr,
Brieana Fregeau,
Samira Sogati,
S. Alshahwan,
S. Alkhalifi,
Zainab Alhumaidi,
S. Temtamy,
M. Aglan,
G. Otaify,
K. Girisha,
M. Tulbah,
M. Z. Seidahmed,
M. Salih,
M. Abouelhoda,
A. Momin,
Muna Al Saffar,
J. Partlow,
S. Arold,
E. Faqeih,
C. Walsh,
F. Alkuraya
|
6 |
2018 |
6
🐜
|
|
🐜
|
The morbid genome of ciliopathies: an update
41 auth.
H. Shamseldin,
R. Shaheen,
Nour Ewida,
Dalal K Bubshait,
Hisham S. Alkuraya,
Elham Almardawi,
Ali Howaidi,
Y. Sabr,
E. Abdalla,
Abdullah Alfaifi,
Jameel M. Alghamdi,
Afaf Alsagheir,
Ahmed Alfares,
H. Morsy,
M. Hussein,
...
Mohammad A Al-Muhaizea,
M. Shagrani,
Essam Al Sabban,
M. Salih,
N. Meriki,
R. Khan,
M. Almugbel,
A. Qari,
Maha Tulba,
M. Mahnashi,
K. Alhazmi,
Abrar K. Alsalamah,
S. Nowilaty,
Amal M Alhashem,
M. Hashem,
F. Abdulwahab,
N. Ibrahim,
Tarfa Alshidi,
Eman Alobeid,
Mona M. Alenazi,
Hamad I. Alzaidan,
Z. Rahbeeni,
M. Al‐Owain,
Sameera Sogaty,
M. Z. Seidahmed,
F. Alkuraya
|
6 |
2020 |
6
🐜
|
|
🐜
|
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
19 auth.
S. Alkanderi,
E. Molinari,
R. Shaheen,
Yasmin ElMaghloob,
L. Stephen,
Veronica Sammut,
Simon A. Ramsbottom,
Shalabh Srivastava,
G. Cairns,
Noel Edwards,
...
S. Rice,
Nour Ewida,
Amal M Alhashem,
K. White,
C. Miles,
D. Steel,
F. Alkuraya,
S. Ismail,
J. Sayer
|
6 |
2018 |
6
🐜
|
|
🐜
|
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
28 auth.
S. Maddirevula,
Hiroyuki Kuwahara,
Nour Ewida,
H. Shamseldin,
N. Patel,
F. Alzahrani,
Tarfa H. Alsheddi,
Eman Alobeid,
Mona M. Alenazi,
H. Alsaif,
Maha Alqahtani,
Maha AlAli,
Hatoon Al Ali,
Rana Helaby,
N. Ibrahim,
...
F. Abdulwahab,
M. Hashem,
N. Hanna,
D. Monies,
Nada Derar,
Afaf Alsagheir,
Amal M Alhashem,
B. Alsaleem,
Hamoud Alhebbi,
S. Wali,
Ramzan Umarov,
Xin Gao,
F. Alkuraya
|
6 |
2020 |
6
🐜
|
|
🐜
|
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
26 auth.
A. Moawia,
R. Shaheen,
Sajida Rasool,
S. Waseem,
Nour Ewida,
B. Budde,
A. Kawalia,
Susanne Motameny,
Kamal Khan,
A. Fatima,
M. Jameel,
Farid Ullah,
Talia Akram,
Zafar Ali,
Uzma Abdullah,
...
S. Irshad,
W. Höhne,
A. Noegel,
M. Al‐Owain,
K. Hörtnagel,
P. Stöbe,
S. Baig,
P. Nürnberg,
F. Alkuraya,
A. Hahn,
M. Hussain
|
6 |
2017 |
6
🐜
|
