Richard Alan Lewis

Richard Alan Lewis

Departments Of Molecular And Human Genetics, Pediatrics And Texas Children's Hospital, Ophthalmology, Neurology, Radiology, And Otolaryngology, Human Genome Center, Baylor ...

Direct Impact

Concepts for which Richard Alan Lewis has direct influence:

aicardi syndrome
retinitis pigmentosa
primary congenital glaucoma
oa1 gene
leber congenital amaurosis
incontinentia pigmenti
saudi arabia

External impact

Concepts related to the work of other authors for which Richard Alan Lewis has influence:

cftr gene
syndromic neurodevelopmental disorder
aicardi syndrome
21-kb deletion
intellectual disability
slavic origin
structural cns malformations

Prominent publications by Richard Alan Lewis

KOL-Index: 176 BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. METHODS: We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic ...
Known for
Collaborative Efforts | Contributory | Unsolved Exome | Gene Molecular
KOL-Index: 101 Stargardt disease (STGD1) segregates with mutations in the ABCA4 (ABCR) locus. However, mutations of the ABCA4 coding region detected by sequencing account for only 66-80% of disease chromosomes. We hypothesized a potential contribution of otherwise undetected genomic rearrangements of the ABCA4 region. To investigate this hypothesis, we performed genomic Southern analysis on samples from 96 ...
Known for
Disease-Associated Allele | 30 Amino Acids | Deletion-Specific Pcr | 1 96 Age-Related Macular
KOL-Index: 69 Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long-term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Additionally, potential psychiatric and cardiovascular effects ...
Known for
Additive Cardiovascular Bone Effects | Topical Systemic Retinoids | Pediatric Dermatology Alliance | Opinion
KOL-Index: 53 Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families ...
Known for
Inherited Retinal Dystrophies | Ird | Genetic Environmental | Autosomal Dominant Retinitis Pigmentosa
KOL-Index: 48 Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing ...
Known for
Hypoplasia Onh | Genetic Optic | Identification Gene
KOL-Index: 46 Stargardt disease (STGD) and fundus flavimaculatus are infrequent autosomal recessive conditions characterized by a juvenile macular dystrophy and variable degrees of peripheral retinal changes. Linkage analysis performed in 47 STGD/fundus flavimaculatus families demonstrated significant linkage to 13 polymorphic DNA markers on chromosome 1p. The maximum combined two-point lod score was 32.7 ...
Known for
Maximum Combined Two-Point Lod | 4-Cm Critical Region | Stgd Markers | Juvenile Macular Dystrophy
KOL-Index: 45 Aicardi syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases are sporadic with one exception, traditional linkage analysis to identify the mutant gene is ...
Known for
Gene Novo | Resolution Array | Linked Copy | Caused Cnvs
KOL-Index: 43 Aicardi syndrome is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, other developmental brain abnormalities, chorioretinal lacunae, and severe seizures. Current clinical knowledge is derived from small series that focus on these major defects. The authors performed a health survey on a large number of affected children to expand this knowledge and to ...
Known for
Management Aicardi | Slows | Syndrome Benefit | Percentile Age
KOL-Index: 34 Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in 220 unaffected control individuals (440 chromosomes) but do cosegregate ...
Known for
50 Exons | Families Stgd1 | Conserved Functional Domains | Heterozygous Abcr
KOL-Index: 34 Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function1,2,3,4,5. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or ...
Known for
Bbs Mks | Terminus | Homozygous Nonsense Mutation | Syndromic Neural Tube Defect

Departments of Molecular and Human Genetics, Pediatrics and Texas Children's Hospital, Ophthalmology, Neurology, Radiology, and Otolaryngology, Human Genome Center, Baylor College of Medicine, Houston, Texas

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