 | Richard Alan Lewis |
Prominent publications by Richard Alan Lewis
PURPOSE: To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP.
METHODS: Two hundred adRP families, drawn from a cohort of more than 400 potential families, were selected by analysis of pedigrees. Minimum criteria for inclusion in the adRP cohort included either evidence of at least three generations of affected individuals or two generations with evidence of male-to-male transmission. Probands from each ...
| Known for Mutations Genes | 200 Families | Autosomal Dominant | Pathogenic Variants | Retinitis Pigmentosa |
PURPOSE: We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene.
METHODS: Families with a provisional clinical diagnosis of adRP, and a pedigree consistent with adRP but no male-to-male transmission were selected from a cohort of 258 families, and tested ...
| Known for Linked Retinitis | Mutations Rpgr | Provisional Diagnosis | Adrp Families | Autosomal Dominant |
Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis
[ PUBLICATION ]
PURPOSE: The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.
METHODS: The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 ...
| Known for Leber Congenital Amaurosis | Mutations Impdh1 | Dominant Retinitis | Enzymatic Activity | Affinity Specificity |
Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund–Thomson Syndrome
[ PUBLICATION ]
BACKGROUND: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predisposition to developing osteosarcoma among an international cohort of RTS patients was ...
| Known for Recql4 Gene | Rts Patients | Thomson Syndrome | Deleterious Mutations | Incidence Osteosarcoma |
Whole‐exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis
[ PUBLICATION ]
It has been well documented that mutations in the same retinal disease gene can result in different clinical phenotypes due to difference in the mutant allele and/or genetic background. To evaluate this, a set of consanguineous patient families with Leber congenital amaurosis (LCA) that do not carry mutations in known LCA disease genes was characterized through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations. Among these families, a ...
| Known for Leber Congenital Amaurosis | Myo7a Mutations | Exome Sequencing | Lca Alms1 | Saudi Arabia |
Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia
[ PUBLICATION ]
The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle of the eye. Homozygosity mapping with a DNA pooling strategy in three large consanguineous Saudi PCG families identified the GLC3A locus on chromosome 2p21 in a region tightly linked to PCG in another population. Formal linkage analysis in 25 Saudi PCG families confirmed both significant linkage to polymorphic markers in ...
| Known for Saudi Arabia | Cytochrome P4501b1 | Pcg Population | Primary Congenital | Human Pair |
PURPOSE: The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia.
METHODS: Direct PCR and sequencing were used to screen 13 known LCA genes (GUCY2D, CRX, RPE65, TULP1, AIPL1, CRB1, RPGRIP1, LRAT, RDH12, IMPDH1, CEP290, RD3, LCA5). In addition, families without mutations identified were further screened with STR markers around these 13 known LCA genes ...
| Known for Saudi Arabia | Lca Genes | Families Mutations | Disease Phenotype | Retinal Degeneration |
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction
[ PUBLICATION ]
Juvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4 or BMPR1A. Individuals with JPS due to mutations in SMAD4 are at greater risk to manifest signs of hereditary hemorrhagic telangiectasia (HHT). HHT is caused by either mutations in SMAD4 or other genes that modulate transforming growth factor-beta (TGFβ) signaling. Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys-Dietz ...
| Known for Smad4 Mutation | Mitral Valve | Juvenile Polyposis | Hht Jps | Tgfβ Network |
Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), and age-related macular degeneration (AMD). Comparative genetic analyses of ABCR variation and diagnostics have been complicated by substantial allelic heterogeneity and by differences in screening methods. To overcome these limitations, we designed a genotyping microarray (gene chip) for ABCR that ...
| Known for Genotyping Microarray | Gene Chip | Mutational Analysis | Retinal Disease | Arrayed Extension |
Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor visual acuity, photodysphoria, pendular infantile nystagmus, and abnormal photopic electroretinographic (ERG) recordings with preservation of rod-mediated function. Mutations in three known genes are causative; including genes for the α and β subunits of the cyclic nucleotide-gated cation channel (CNGA3 and CNGB3, ...
| Known for Achromatopsia Cngb3 | Uniparental Disomy | Color Discrimination | Cyclic Nucleotide | Cation Channels |
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.
[ PUBLICATION ]
Choroideremia (McK30310), an X-linked hereditary retinal dystrophy, causes night-blindness, progressive peripheral visual field loss, and, ultimately, central blindness in affected males. The location of choroideremia on the X chromosome is unknown. We have used restriction fragment length polymorphisms from the X chromosome to determine the regional localization of choroideremia by linkage analysis in families with this disease. One such polymorphic locus, DXYS1, located on the long arm ...
| Known for Choroideremia Dxys1 | Restriction Fragment | Prenatal Diagnosis | Linkage Analysis | Long Arm |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
[ PUBLICATION ]
Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1-7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7). Genetic and mutational analyses have indicated that, in some families, a combination of three mutant alleles at two loci (triallelic inheritance) is necessary for pathogenesis. To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission. We present a ...
| Known for Bbs Loci | Genetic Interaction | Families Mutations | Biedl Syndrome | Triallelic Inheritance |
OBJECTIVE: To evaluate rates and causes of visual loss among patients with acquired immunodeficiency syndrome (AIDS) and cytomegalovirus (CMV) retinitis before widespread availability of highly active antiretroviral therapy (HAART).
METHODS: Data from 681 patients with AIDS and newly diagnosed or relapsed CMV retinitis who enrolled in 3 clinical trials conducted by the Studies of Ocular Complications of AIDS (SOCA) Research Group (between 1990 and 1996) were combined to evaluate the ...
| Known for Visual Loss | Antiretroviral Therapy | Cytomegalovirus Retinitis | Highly Active | Patients Aids |
Richard Alan Lewis: Influence Statistics
| Concept | World rank |
|---|---|
| foxe3 cyp1b1 mutations | #1 |
| familial aortic dissection | #1 |
| haloplex amplicons | #1 |
| variable callosal dysgenesis | #1 |
| females clinical diagnosis | #1 |
| demonstration carrier status | #1 |
| pcg southern cytochrome | #1 |
| linked ophthalmic | #1 |
| diseases aicardi | #1 |
| chromosome xci patterns | #1 |
| bcm potential | #1 |
| ocular papillary | #1 |
| north nhs families | #1 |
| provisional diagnosis | #1 |
| skeletal composite score | #1 |
| decreased ocular pigmentation | #1 |
| arabia transcription | #1 |
| onh genes | #1 |
| ocular adnexal findings | #1 |
| hospital metropolitano | #1 |
| 33 informative samples | #1 |
| null‐protein product | #1 |
| prenatal diagnosis reasons | #1 |
| molecular basis pa | #1 |
| 988 coverage | #1 |
| woman choroideremia | #1 |
| 8020 skewed ratio | #1 |
| chiasmal tumors patients | #1 |
| lca locus | #1 |
| 5 unrelated spouses | #1 |
| abnormal eye examinations | #1 |
| multiple intracranial cysts | #1 |
| disability optic | #1 |
| mutations onh | #1 |
| planning targeted treatments | #1 |
| opt screening guidelines | #1 |
| pcg pa | #1 |
| pa pcg | #1 |
| survey 69 children | #1 |
| detectable alterations oa1 | #1 |
| diligent inquisition unusual | #1 |
| diligent inquisition | #1 |
| patterns aicardi | #1 |
| underopercularization | #1 |
| nonexudative maculopathy | #1 |
| xci aicardi | #1 |
| methods tead1 | #1 |
| direct sequencing exon | #1 |
| mutation oa1 | #1 |
| ecuador pcg | #1 |
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Key People For Aicardi Syndrome
Richard Alan Lewis:Expert Impact
Concepts for whichRichard Alan Lewishas direct influence:Aicardi syndrome, Saudi arabia, Stargardt disease, Retinitis pigmentosa, Oa1 gene, Biedl syndrome, Incontinentia pigmenti.
Richard Alan Lewis:KOL impact
Concepts related to the work of other authors for whichfor which Richard Alan Lewis has influence:Retinitis pigmentosa, Stargardt disease, Retinal degeneration, Neurofibromatosis type, Usher syndrome, Incontinentia pigmenti, Exome sequencing.
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