lihadh al-gazali
lihadh al-gazali
Professor in Clinical Genetics & Paediatrics
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An SCN9A channelopathy causes congenital inability to experience pain
JJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ...
Nature 444 (7121), 894-898, 2006
Using whole-exome sequencing to identify inherited causes of autism
WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ...
Neuron 77 (2), 259-273, 2013
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ...
Nature genetics 38 (6), 623-625, 2006
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ...
Science 319 (5864), 816-819, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ...
The American Journal of Human Genetics 83 (2), 170-179, 2008
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ...
Nature genetics 41 (9), 1032-1036, 2009
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ...
The American Journal of Human Genetics 75 (1), 27-34, 2004
Genetic disorders in the Arab world
L Al-Gazali, H Hamamy, S Al-Arrayad
Bmj 333 (7573), 831-834, 2006
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
M Alders, BM Hogan, E Gjini, F Salehi, L Al-Gazali, EA Hennekam, ...
Nature genetics 41 (12), 1272-1274, 2009
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071-1076, 2016
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ...
Nature genetics 39 (8), 957-959, 2007
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria
T Dixon-Salazar, JL Silhavy, SE Marsh, CM Louie, LC Scott, A Gururaj, ...
The American Journal of Human Genetics 75 (6), 979-987, 2004
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ...
Cell 142 (2), 203-217, 2010
consanguineous marriages in the United Arab Emirates
LI Al-Gazali, A Bener, YM Abdulrazzaq, R Micallef, AI Al-Khayat, T Gaber
Journal of biosocial science 29 (4), 491-497, 1997
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy
AK Agarwal, V Simha, EA Oral, SA Moran, P Gorden, S O’Rahilly, Z Zaidi, ...
The Journal of Clinical Endocrinology & Metabolism 88 (10), 4840-4847, 2003
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
CG Woods, S Stricker, P Seemann, R Stern, J Cox, E Sherridan, ...
The American Journal of Human Genetics 79 (2), 402-408, 2006
Mutations in PYCR1 cause cutis laxa with progeroid features
B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ...
Nature genetics 41 (9), 1016-1021, 2009
High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium
L Pereira, M Richards, A Goios, A Alonso, C Albarrán, O Garcia, ...
Genome research 15 (1), 19-24, 2005
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
FJ Martinez, JH Lee, JE Lee, S Blanco, E Nickerson, S Gabriel, M Frye, ...
Journal of medical genetics 49 (6), 380-385, 2012
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome–related disorders
F Brancati, G Barrano, JL Silhavy, SE Marsh, L Travaglini, SL Bielas, ...
The American Journal of Human Genetics 81 (1), 104-113, 2007
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