Richard Alan Lewis: Influence Statistics

Richard Alan Lewis

Richard Alan Lewis

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA | Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA | ...

Richard Alan Lewis: Expert Impact

Concepts for which Richard Alan Lewis has 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 which for which Richard Alan Lewis has influence: Retinitis pigmentosa , Stargardt disease , Retinal degeneration , Neurofibromatosis type , Usher syndrome , Incontinentia pigmenti , Exome sequencing .

KOL Resume for Richard Alan Lewis

Year
2022

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA

2021

Texas Children's Hospital, Houston, Texas, USA

2020

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

2019

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.

2018

Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA

2017

Department of Medicine Baylor College of Medicine Houston Texas

2016

Cullen Eye Institute, Baylor College of Medicine Department of Ophthalmology Houston Texas

2015

Department of Medicine, Baylor College of Medicine, Houston, Texas

2014

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.

2013

Department of Ophthalmology, Baylor College of Medicine, Houston, Texas;

2012

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

Houston, Texas

2011

Texas Children's Hospital, Baylor College of Medicine, Houston, Texas

Department of Ophthalmology, Baylor College of Medicine, Houston, TX

2010

Cullen Eye Institute, Baylor College of Medicine, Houston, Texas

From the *Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD; †Departments of Ophthalmology and Medicine, Mount Sinai School of Medicine, New York, NY; ‡Department of Epidemiology, Center for Clinical Trials, The Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD; §Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics Baylor College of Medicine, Houston, TX; and ‖The Laboratory of Genomic Diversity, SAIC-Frederick, Inc, NCI-Frederick, Frederick, MD.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA

2009

Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA

2008

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 635E Houston, TX 77030, USA

Ophthalmology,

2007

Cullen Eye Institute, Baylor College of Medicine, Houston, TX

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas

2006

Pediatrics, and

Ophthalmology, Baylor College of Medicine, Houston, Texas

Department of Medicine, Baylor College of Medicine, 77030, Houston, TX, USA

2005

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas

2004

Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

2003

Departments of Ophthalmology, Pediatrics, Medicine, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; the

2001

Department of Molecular and Human Genetics, 2Department of Dermatology and 3Department of Ophthalmology and the Cullen Eye Institute, Baylor College of Medicine, Houston, TX 77030, USA, 4Wellcome Trust Centre for Molecular Mechanisms of Disease and University of Cambridge Department of Medicine, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK, 5International Institute of Genetics and Biophysics, Area di Ricerca del CNR di Napoli, Naples, Italy, 6BioGem, Naples, Italy and 7Department of Genetics, Unité des Recherches sur les Handicaps Génétiques de l’Enfant INSERM-393, Hopital Necker-Enfants Malades, 75015 Paris, France

The Texas Children's Hospital, Houston TX, and

Pediatrics,

Medicine, Baylor College of Medicine,

2000

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA

Prominent publications by Richard Alan Lewis

KOL-Index: 19148 . 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 ...
Known for Mutations Genes | 200 Families | Autosomal Dominant | Pathogenic Variants
KOL-Index: 16557 . 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 ...
Known for Linked Retinitis | Mutations Rpgr | Provisional Diagnosis | Adrp Families
KOL-Index: 16202 . 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 ...
Known for Leber Congenital Amaurosis | Mutations Impdh1 | Dominant Retinitis | Enzymatic Activity
KOL-Index: 15259 . 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 ...
Known for Recql4 Gene | Rts Patients | Thomson Syndrome | Deleterious Mutations
KOL-Index: 14332 . 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 ...
Known for Leber Congenital Amaurosis | Myo7a Mutations | Exome Sequencing | Lca Alms1
KOL-Index: 13553 . 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 ...
Known for Saudi Arabia | Cytochrome P4501b1 | Pcg Population | Primary Congenital
KOL-Index: 12851 . 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 ...
Known for Saudi Arabia | Lca Genes | Families Mutations | Disease Phenotype
KOL-Index: 11828 . 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 ...
Known for Smad4 Mutation | Mitral Valve | Juvenile Polyposis | Hht Jps
KOL-Index: 11781 . 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 ...
Known for Genotyping Microarray | Gene Chip | Mutational Analysis | Retinal Disease
KOL-Index: 11768 . 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; ...
Known for Achromatopsia Cngb3 | Uniparental Disomy | Color Discrimination | Cyclic Nucleotide
KOL-Index: 11526 . 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 ...
Known for Choroideremia Dxys1 | Restriction Fragment | Prenatal Diagnosis | Linkage Analysis
KOL-Index: 11442 . 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 ...
Known for Bbs Loci | Genetic Interaction | Families Mutations | Biedl Syndrome
KOL-Index: 11228 . 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 ...
Known for Visual Loss | Antiretroviral Therapy | Cytomegalovirus Retinitis | Highly Active

Key People For Aicardi Syndrome

Top KOLs in the world
#1
Jean Aicardi
status epilepticus newborn infant aicardi syndrome
#2
Roger J Packer
brain tumors neurofibromatosis type central nervous
#3
Beverly S Emanuel
human pair situ hybridization deletion syndrome
#4
Ignatia B Van den Veyver
prenatal diagnosis aicardi syndrome fetal cells
#5
Vernon Reid Sutton
osteogenesis imperfecta aicardi syndrome propionic acidemia
#6
Richard Alan Lewis
aicardi syndrome stargardt disease retinitis pigmentosa

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA | Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA | Texas Children's Hospital, Houston, Texas, USA | Cullen Eye Institute, Depart