Published in Am J Hum Genet on July 26, 2012
Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res (2014) 1.22
Genetics and genomic medicine in Saudi Arabia. Mol Genet Genomic Med (2014) 1.10
Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat (2014) 0.97
TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol (2015) 0.96
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet (2013) 0.95
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet (2014) 0.92
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet (2015) 0.90
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol (2015) 0.89
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol (2015) 0.87
Specialized Cilia in Mammalian Sensory Systems. Cells (2015) 0.85
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet (2013) 0.85
New frontiers: discovering cilia-independent functions of cilia proteins. EMBO Rep (2015) 0.80
Large-Scale Analysis of CRISPR/Cas9 Cell-Cycle Knockouts Reveals the Diversity of p53-Dependent Responses to Cell-Cycle Defects. Dev Cell (2017) 0.78
Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics (2015) 0.78
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. PLoS One (2015) 0.77
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. Mol Genet Genomic Med (2013) 0.77
Tetrahymena Poc1 ensures proper intertriplet microtubule linkages to maintain basal body integrity. Mol Biol Cell (2016) 0.76
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice. PLoS Genet (2015) 0.76
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am J Hum Genet (2015) 0.76
Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol (2015) 0.76
ATR promotes cilia signalling: links to developmental impacts. Hum Mol Genet (2016) 0.75
Genetics of Short Stature. Endocrinol Metab Clin North Am (2017) 0.75
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Curr Osteoporos Rep (2017) 0.75
Centrioles, centrosomes, and cilia in health and disease. Cell (2009) 5.82
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
The Drosophila pericentrin-like protein is essential for cilia/flagella function, but appears to be dispensable for mitosis. J Cell Biol (2004) 3.20
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet (2007) 3.08
Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes. Curr Biol (2005) 2.86
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome. J Cell Biol (2010) 2.33
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet (1982) 2.13
The nonmotile ciliopathies. Genet Med (2009) 1.91
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet (2011) 1.76
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
Novel CENPJ mutation causes Seckel syndrome. J Med Genet (2010) 1.61
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
Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. Mol Biol Cell (2008) 1.58
Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev (2011) 1.56
Pericentrin in cellular function and disease. J Cell Biol (2009) 1.46
Basal body stability and ciliogenesis requires the conserved component Poc1. J Cell Biol (2009) 1.38
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet (2009) 1.38
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet (2011) 1.31
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat (2011) 1.28
CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet (2011) 1.26
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A (2004) 1.20
Pericentrin, a centrosomal protein related to microcephalic primordial dwarfism, is required for olfactory cilia assembly in mice. FASEB J (2009) 1.11
Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles. Biochem Biophys Res Commun (2005) 1.06
Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis (2010) 1.02
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature. J Pediatr (2012) 1.00
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet (2011) 0.98
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. Ann Neurol (2009) 0.97
Growth and growth hormone therapy in subjects with mulibrey nanism. Pediatrics (2007) 0.91
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science (2011) 2.78
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol (2011) 2.51
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet (2013) 2.12
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet (2011) 2.02
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet (2011) 1.92
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet (2009) 1.73
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet (2013) 1.61
Novel CENPJ mutation causes Seckel syndrome. J Med Genet (2010) 1.61
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
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet (2011) 1.57
A novel X-linked disorder with developmental delay and autistic features. Ann Neurol (2011) 1.54
A versatile gene trap to visualize and interrogate the function of the vertebrate proteome. Genes Dev (2011) 1.48
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res (2012) 1.47
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol (2013) 1.46
Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator. Dev Cell (2016) 1.45
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet (2012) 1.45
RNA-seq-based mapping and candidate identification of mutations from forward genetic screens. Genome Res (2013) 1.44
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 1.43
Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. Am J Med Genet A (2011) 1.42
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene (2012) 1.41
Clinical characterisation of the CABP4-related retinal phenotype. Br J Ophthalmol (2012) 1.41
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis (2010) 1.41
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet (2009) 1.41
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet (2011) 1.31
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A (2009) 1.28
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat (2011) 1.28
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
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet (2011) 1.26
Specified neural progenitors sort to form sharp domains after noisy Shh signaling. Cell (2013) 1.24
Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res (2014) 1.22
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
ACME: automated cell morphology extractor for comprehensive reconstruction of cell membranes. PLoS Comput Biol (2012) 1.19
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet (2013) 1.18
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet (2012) 1.18
The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol (2012) 1.18
Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis (2009) 1.18
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet (2012) 1.16
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics (2011) 1.15
Synthesis and in vitro anticancer evaluation of some novel hexahydroquinoline derivatives having a benzenesulfonamide moiety. Eur J Med Chem (2010) 1.15
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet (2012) 1.13
Microvascular injury, thrombosis, inflammation, and apoptosis in the pathogenesis of heatstroke: a study in baboon model. Arterioscler Thromb Vasc Biol (2008) 1.13
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet (2013) 1.12
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet (2012) 1.11
Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet (2009) 1.11
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? Am J Hum Genet (2010) 1.10
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med (2012) 1.10
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis (2013) 1.09
Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat (2012) 1.09
Autozygosity mapping with exome sequence data. Hum Mutat (2012) 1.08
Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing. Development (2012) 1.08
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin Genet (2011) 1.08
RNase L mediates transient control of the interferon response through modulation of the double-stranded RNA-dependent protein kinase PKR. J Biol Chem (2003) 1.07
In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet (2012) 1.06
Oncogenic activation of MAP kinase by BRAF pseudogene in thyroid tumors. Neoplasia (2009) 1.06
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
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet (2008) 1.05
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest (2015) 1.05
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A (2011) 1.04
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis (2009) 1.03
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis (2011) 1.03
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet (2015) 1.03
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. Am J Hum Genet (2013) 1.03
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord (2013) 1.01
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature. J Pediatr (2012) 1.00
WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype. J Med Genet (2013) 1.00