PubRank

Lihadh Al-Gazali

Author PubWeight™ 87.78‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 An SCN9A channelopathy causes congenital inability to experience pain. Nature 2006 7.01
2 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008 4.04
3 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 2006 3.97
4 Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 2004 2.76
5 Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013 2.74
6 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet 2009 2.72
7 Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008 2.65
8 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 2010 2.49
9 Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009 1.89
10 High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Res 2005 1.85
11 Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 2007 1.85
12 Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet 2003 1.84
13 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet 2007 1.82
14 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science 2012 1.74
15 Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 2010 1.67
16 Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab 2003 1.65
17 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 2009 1.59
18 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 2006 1.56
19 Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol 2005 1.54
20 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 2012 1.49
21 Community genetics. Its definition 2010. J Community Genet 2010 1.42
22 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 2010 1.34
23 Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet 2012 1.32
24 Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol 2005 1.31
25 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 2011 1.20
26 Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? Am J Med Genet A 2011 1.16
27 Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine. Proc Natl Acad Sci U S A 2010 1.14
28 Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet 2012 1.11
29 Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients. Hum Mol Genet 2010 1.10
30 A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet 2010 1.08
31 Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat 2014 1.08
32 A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant 2006 1.07
33 In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet 2012 1.06
34 Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet 2014 1.03
35 Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A 2013 1.01
36 Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet 2011 1.01
37 A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J Cardiovasc Electrophysiol 2007 1.01
38 A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy. J Mol Neurosci 2014 0.99
39 Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. BMC Med Genet 2010 0.99
40 A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet 2010 0.93
41 Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. Eur J Med Genet 2012 0.93
42 Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis 2014 0.93
43 A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. Birth Defects Res A Clin Mol Teratol 2012 0.91
44 A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. BMC Med Genet 2012 0.90
45 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis 2012 0.90
46 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat 2012 0.89
47 Normal glycosylation screening does not rule out SRD5A3-CDG. Eur J Hum Genet 2011 0.88
48 Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report. Mol Cytogenet 2008 0.88
49 LINS, a modulator of the WNT signaling pathway, is involved in human cognition. Orphanet J Rare Dis 2013 0.87
50 Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. Hum Mol Genet 2008 0.87
51 Laboratory life: Scientists of the world speak up for equality. Nature 2013 0.86
52 X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. Am J Med Genet A 2014 0.84
53 Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia. PLoS One 2011 0.83
54 Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale. Forensic Sci Int 2005 0.80
55 BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia. Saudi Med J 2003 0.79
56 Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Hum Mutat 2013 0.79
57 Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population. Genet Test Mol Biomarkers 2011 0.78
58 Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations. Mol Cell Biochem 2012 0.78
59 Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis. Gene 2013 0.77
60 Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures. Pediatr Neurol 2013 0.77
61 The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. Childs Nerv Syst 2014 0.77
62 Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var 2015 0.77
63 A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking. BMC Med Genet 2014 0.76
64 Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. Mol Biol Rep 2013 0.76
65 A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis. Gene 2013 0.75
66 Genetics: global challenge, regional focus. Advances in community and preventive genetics. Community Genet 2005 0.75
67 Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia. Clin Biochem 2003 0.75
68 Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun 2016 0.75
69 Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. Birth Defects Res A Clin Mol Teratol 2013 0.75
70 Breast cancer, consanguinity, and lethal tumor genes: simulation of BRCA1/2 prevalence over 40 generations. Int J Mol Med 2002 0.75