PubRank

Fowzan S Alkuraya

Author PubWeight™ 136.32‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science 2011 2.78
2 A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet 2013 2.12
3 Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 2008 2.06
4 Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet 2011 2.02
5 New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet 2012 1.90
6 Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet 2009 1.73
7 Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet 2013 1.61
8 Novel CENPJ mutation causes Seckel syndrome. J Med Genet 2010 1.61
9 Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 2011 1.58
10 Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet 2011 1.57
11 A novel X-linked disorder with developmental delay and autistic features. Ann Neurol 2011 1.54
12 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res 2012 1.47
13 A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol 2013 1.46
14 Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet 2012 1.45
15 Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet 2011 1.43
16 Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. Am J Med Genet A 2011 1.42
17 Clinical characterisation of the CABP4-related retinal phenotype. Br J Ophthalmol 2012 1.41
18 Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene 2012 1.41
19 Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis 2010 1.41
20 FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet 2009 1.41
21 Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 2011 1.31
22 NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 2007 1.30
23 A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat 2011 1.28
24 Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A 2009 1.28
25 LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol 2012 1.26
26 Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet 2011 1.26
27 Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res 2014 1.22
28 Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet 2013 1.20
29 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 2013 1.18
30 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis 2013 1.18
31 Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet 2012 1.18
32 The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol 2012 1.18
33 Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis 2009 1.18
34 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet 2012 1.16
35 A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics 2011 1.15
36 Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet 2012 1.13
37 POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet 2012 1.13
38 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet 2013 1.12
39 Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet 2012 1.11
40 Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet 2009 1.11
41 FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? Am J Hum Genet 2010 1.10
42 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med 2012 1.10
43 Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis 2013 1.09
44 Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat 2012 1.09
45 Autozygosity mapping with exome sequence data. Hum Mutat 2012 1.08
46 A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin Genet 2011 1.08
47 In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet 2012 1.06
48 Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat 2012 1.06
49 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 2008 1.05
50 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest 2015 1.05
51 Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A 2011 1.04
52 Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011 1.03
53 Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis 2009 1.03
54 High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet 2015 1.03
55 The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord 2013 1.01
56 3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature. J Pediatr 2012 1.00
57 WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype. J Med Genet 2013 1.00
58 A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis 2010 0.98
59 Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats. Invest Ophthalmol Vis Sci 2012 0.98
60 Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet 2013 0.97
61 Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. Arch Ophthalmol 2011 0.97
62 Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa. Hum Gene Ther Clin Dev 2013 0.96
63 Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet 2011 0.96
64 Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet 2013 0.96
65 Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet 2011 0.94
66 Mutation of CANT1 causes Desbuquois dysplasia. Am J Med Genet A 2010 0.93
67 Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity. Genet Med 2012 0.93
68 Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet Med 2011 0.92
69 Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum Mutat 2013 0.92
70 Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. Am J Ophthalmol 2012 0.92
71 SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. Neurology 2014 0.92
72 Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet 2013 0.92
73 GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. Am J Med Genet A 2011 0.91
74 Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol 2010 0.91
75 NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. Am J Med Genet A 2009 0.91
76 Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia. Genet Med 2012 0.90
77 Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma. Exp Eye Res 2010 0.90
78 Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci 2009 0.89
79 Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. J Pediatr Gastroenterol Nutr 2009 0.89
80 RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. Br J Ophthalmol 2012 0.89
81 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat 2012 0.88
82 A novel syndrome of lethal familial hyperekplexia associated with brain malformation. BMC Neurol 2012 0.88
83 Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. Am J Med Genet A 2008 0.87
84 Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med 2012 0.87
85 A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. Am J Med Genet A 2009 0.87
86 Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing. Genet Med 2012 0.86
87 Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. J Med Genet 2012 0.86
88 Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet 2011 0.86
89 Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genet 2012 0.86
90 NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. J Med Genet 2014 0.86
91 Mutation in MPDZ causes severe congenital hydrocephalus. J Med Genet 2013 0.85
92 A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. Neurogenetics 2013 0.85
93 Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet 2013 0.85
94 Genetic and genomic analysis of classic aniridia in Saudi Arabia. Mol Vis 2011 0.85
95 Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. Am J Med Genet A 2011 0.85
96 ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain 2013 0.84
97 Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. Ophthalmic Genet 2014 0.84
98 Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). Ophthalmic Genet 2010 0.84
99 Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet 2013 0.84
100 Expanding the "E" in CHARGE. Am J Med Genet A 2008 0.83
101 MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts. Blood 2013 0.83
102 Mutations in the human UBR1 gene and the associated phenotypic spectrum. Hum Mutat 2014 0.83
103 The RPGRIP1-related retinal phenotype in children. Br J Ophthalmol 2013 0.83
104 The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum Mutat 2013 0.83
105 Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. Am J Hum Genet 2011 0.83
106 LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. Hum Genet 2015 0.83
107 'Cone dystrophy with supranormal rod response' in children. Br J Ophthalmol 2011 0.82
108 No evidence for locus heterogeneity in Knobloch syndrome. J Med Genet 2013 0.81
109 Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. Ophthalmic Genet 2013 0.81
110 A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A 2005 0.80
111 Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. Gene 2012 0.80
112 Mutations in TMEM231 cause Meckel-Gruber syndrome. J Med Genet 2013 0.80
113 Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV. Am J Med Genet A 2010 0.79
114 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). Ophthalmic Genet 2012 0.79
115 Corneal decompensation in recessive cornea plana. Ophthalmic Genet 2009 0.79
116 Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation. Ophthalmic Genet 2013 0.79
117 Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. Genet Test Mol Biomarkers 2010 0.79
118 Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. Ophthalmology 2013 0.79
119 CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children. J AAPOS 2012 0.79
120 Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3. J Med Genet 2013 0.78
121 Revisiting disease genes based on whole-exome sequencing in consanguineous populations. Hum Genet 2015 0.78
122 Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation. Ophthalmic Genet 2012 0.78
123 Weaver syndrome and defective cortical development: a rare association. Am J Med Genet A 2012 0.78
124 Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. J AAPOS 2011 0.78
125 Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations. J AAPOS 2013 0.78
126 Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X. Arch Ophthalmol 2010 0.78
127 Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation? Am J Med Genet A 2014 0.78
128 Congenital glaucoma with acquired peripheral circumferential iris degeneration. J AAPOS 2013 0.77
129 Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility. PLoS Genet 2013 0.77
130 Index of suspicion. Pediatr Rev 2004 0.77
131 A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation. J Med Genet 2014 0.76
132 Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain. Gene 2012 0.76
133 Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36. Am J Med Genet A 2013 0.76
134 Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. Br J Ophthalmol 2012 0.76
135 A case of de Barsy syndrome with a severe eye phenotype. Am J Med Genet A 2012 0.75
136 Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. Clin Dysmorphol 2010 0.75
137 Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype. Ophthalmic Genet 2013 0.75
138 ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Hum Genet 2015 0.75
139 Study of consanguineous populations can improve the annotation of SNP databases. Eur J Med Genet 2010 0.75
140 Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. Gene 2012 0.75
141 Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. Hum Mutat 2013 0.75
142 Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. Ann Saudi Med 2014 0.75
143 No evidence for rare pathological SIAE coding variants in patients with vitiligo. Int J Dermatol 2012 0.75
144 Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing? Prenat Diagn 2006 0.75