Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

S. Blanton · SciRah

Researcher profile · Semantic Scholar

S. Blanton

Share profile

S. Blanton — researcher profile on SciRah

h-index: 48
Works: 201
Citations: 8,406

Most-cited papers

Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise
D. Yan, Yan Zhu, T. Walsh, D. Xie +18 more
2013Proceedings of the National Academy of Sciences of the United States of America164 citations Open access
Semantic Scholar
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
E. Leslie, Huan Liu, J. Carlson, J. Shaffer +54 more
2016American Journal of Human Genetics148 citations Open access
Semantic Scholar
Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort
G. Bademci, J. Foster, N. Mahdieh, M. Bonyadi +27 more
2015Genetics in Medicine145 citations Open access
Semantic Scholar
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Michael A. Gonzalez, S. Feely, Fiorella Speziani, Alleene V. Strickland +8 more
2014Brain : a journal of neurology136 citations Open access
Semantic Scholar
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
A. Morris, T. Le, Haojia Wu, A. Akbarov +68 more
2019Nature Communications135 citations Open access
Semantic Scholar
Spectrum of DNA variants for nonsyndromic deafness in a large cohort from multiple continents
D. Yan, Demet Tekin, G. Bademci, J. Foster +27 more
2016Human Genetics123 citations Open access
Semantic Scholar
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
K. Yariz, D. Duman, Celia Zazo Seco, J. Dallman +26 more
2012American Journal of Human Genetics120 citations Open access
Semantic Scholar
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
Willa L Thorson, O. Díaz-Horta, J. Foster, Michail Spiliopoulos +4 more
2014Human Genetics99 citations
Semantic Scholar
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
M. Grati, Imen Chakchouk, Qi Ma, Mariem Bensaid +11 more
2015Human Molecular Genetics97 citations Open access
Semantic Scholar
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
O. Díaz-Horta, Asli Subasioglu-Uzak, M. Grati, Alexandra A. Desmidt +14 more
2014Proceedings of the National Academy of Sciences of the United States of America74 citations Open access
Semantic Scholar
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Lori S. Sullivan, D. Koboldt, Sara J. Bowne, Steven Lang +17 more
2014Investigative Ophthalmology and Visual Science63 citations Open access
Semantic Scholar
Whole-exome sequencing and its impact in hereditary hearing loss
T. Atik, G. Bademci, O. Díaz-Horta, S. Blanton +1 more
2015Genetics Research53 citations Open access
Semantic Scholar
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
G. Bademci, F. Cengiz, J. F. Ii, D. Duman +20 more
2016Scientific Reports50 citations Open access
Semantic Scholar
Next-Generation Sequencing in Genetic Hearing Loss
D. Yan, M. Tekin, S. Blanton, Xue-Zhong Liu
2013Genetic Testing and Molecular Biomarkers48 citations Open access
Semantic Scholar
A NEXT-GENERATION SEQUENCING GENE PANEL (MIAMI OTOGENES) FOR COMPREHENSIVE ANALYSIS OF DEAFNESS GENES
Demet Tekin, D. Yan, G. Bademci, Yong Feng +5 more
2016Hearing Research44 citations Open access
Semantic Scholar
Exome-based mapping and variant prioritization for inherited Mendelian disorders.
D. Koboldt, D. Larson, Lori S. Sullivan, Sara J. Bowne +9 more
2014American Journal of Human Genetics42 citations Open access
Semantic Scholar
COVID19: A Systematic Approach to Early Identification and Healthcare Worker Protection
Yu Zhao, C. Cui, Kun Zhang, Jia-Lin Liu +17 more
2020Frontiers in Public Health39 citations Open access
Semantic Scholar
Review of Genotype-Phenotype Correlations in Usher Syndrome
E. Nisenbaum, Torin P. Thielhelm, Aida Nourbakhsh, D. Yan +7 more
2021Ear and Hearing36 citations Open access
Semantic Scholar
Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss
G. Bademci, O. Díaz-Horta, Shengru Guo, D. Duman +5 more
2014Genetic Testing and Molecular Biomarkers36 citations Open access
Semantic Scholar
Collection of family health history for assessment of chronic disease risk in primary care.
Karen Powell, C. Christianson, S. Hahn, Gaurav Dave +7 more
2013North Carolina Medical Journal35 citations
Semantic Scholar
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene
Sara J. Bowne, Lori S. Sullivan, D. Wheaton, K. Locke +7 more
2016Molecular Vision34 citations
Semantic Scholar
Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)
S. Daiger, Sara J. Bowne, Lori S. Sullivan, S. Blanton +9 more
2014Advances in Experimental Medicine and Biology34 citations Open access
Semantic Scholar
The Use of a Family History Risk Assessment Tool within a Community Health Care System: Views of Primary Care Providers
C. Christianson, Karen Powell, S. Hahn, S. Blanton +3 more
2012Journal of Genetic Counseling34 citations Open access
Semantic Scholar
Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting
G. Chauhan, H. Adams, C. Satizabal, Joshua C. Bis +146 more
2019Neurology33 citations Open access
Semantic Scholar
The genetic basis of deafness in populations of African descent.
J. Rudman, R. I. Kabahuma, Sara E. Bressler, Yong Feng +3 more
2017Journal of genetics and genomics = Yi chuan xue bao33 citations
Semantic Scholar
Further Evidence Suggesting a Role for Variation in ARHGAP29 in Nonsyndromic Cleft Lip/Palate
A. Letra, Lorena Maili, J. Mulliken, Edward P. Buchanan +2 more
2014Birth defects research. Clinical and molecular teratology32 citations Open access
Semantic Scholar
Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism
K. Weymouth, S. Blanton, T. Powell, C. V. Patel +2 more
2016Clinical Orthopaedics and Related Research29 citations Open access
Semantic Scholar
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
M. Jang, D. Oh, Eunyoung Yi, Xue-Zhong Liu +40 more
2021Proceedings of the National Academy of Sciences of the United States of America27 citations Open access
Semantic Scholar
Peripheral vestibular system: Age-related vestibular loss and associated deficits
Jennifer Coto, Carmen L. Alvarez, Ivette Cejas, Brett M. Colbert +9 more
2021Journal of Otology27 citations Open access
Semantic Scholar
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
G. Bademci, C. Abad, A. İncesulu, A. Rad +21 more
2018Human Genetics27 citations Open access
Semantic Scholar
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
Evan M. de Joya, Brett M. Colbert, Pei-Ciao Tang, Byron L. Lam +4 more
2021International Journal of Molecular Sciences26 citations Open access
Semantic Scholar
Genome-wide association study identifies new disease loci for isolated clubfoot
Tian-Xiao Zhang, Gabe Haller, P. Lin, David M. Alvarado +6 more
2014Journal of Medical Genetics26 citations
Semantic Scholar
Common Genes for Non-syndromic Deafness are uncommon in Sub Saharan Africa: A report from Nigeria
A. Lasisi, G. Bademci, J. Foster, S. Blanton +1 more
2014International Journal of Pediatric Otorhinolaryngology26 citations Open access
Semantic Scholar
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate
Lorena Maili, A. Letra, R. Silva, Edward P. Buchanan +9 more
2019Birth Defects Research25 citations Open access
Semantic Scholar
Novel Pathogenic Variants Underlie SLC26A4-related Hearing Loss in a Multiethnic Cohort
F. Cengiz, R. Yılmazer, L. Olgun, L. Sennaroğlu +21 more
2017International Journal of Pediatric Otorhinolaryngology25 citations Open access
Semantic Scholar
Genetic Variants in LEKR1 and GALNT10 Modulate Sex-Difference in Carotid Intima-Media Thickness: A Genome-Wide Interaction Study
C. Dong, D. Della-Morte, Ashley H. Beecham, Li-Yong Wang +4 more
2015Atherosclerosis25 citations Open access
Semantic Scholar
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis
Meng Li, Ling-Yun Mei, Chu-Feng He, Hong-Sheng Chen +19 more
2019Genetics in Medicine24 citations Open access
Semantic Scholar
FOXF2 is required for cochlear development in humans and mice.
G. Bademci, C. Abad, A. İncesulu, Fahed A. Elian +19 more
2018Human Molecular Genetics24 citations Open access
Semantic Scholar
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
D. Yan, Guangxin Xiang, Xin-Yi Chai, Jie Qing +12 more
2017PLoS ONE24 citations Open access
Semantic Scholar
Genetics and the Individualized Therapy of Vestibular Disorders
C. Mei, Hong-Song Dong, E. Nisenbaum, Torin P. Thielhelm +10 more
2021Frontiers in Neurology23 citations Open access
Semantic Scholar
Precision medicine in hearing loss.
J. Rudman, C. Mei, Sara E. Bressler, S. Blanton +1 more
2018Journal of genetics and genomics = Yi chuan xue bao23 citations
Semantic Scholar
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis
Haiqiong Shang, D. Yan, N. Tayebi, Kolsoum Saeidi +4 more
2018BioMed Research International21 citations Open access
Semantic Scholar
Apolipoprotein E Gene Polymorphism and Subclinical Carotid Atherosclerosis: The Northern Manhattan Study
B. Doliner, C. Dong, S. Blanton, H. Gardener +5 more
2017Journal of Stroke & Cerebrovascular Diseases20 citations Open access
Semantic Scholar
Recent advancements in understanding the role of epigenetics in the auditory system
R. Mittal, N. Bencie, George Liu, Nicolas Eshraghi +8 more
2020Gene19 citations Open access
Semantic Scholar
Suppleme validation A . B . ntary Figure cohort : Linkage disequilibrium between the 50 SNPs further evaluated in the
Li-Yong Wang, Ashley H. Beecham, De-Gen Zhuo, C. Dong +3 more
201219 citations
Semantic Scholar
DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate
Juan I. Young, S. Slifer, J. Hecht, S. Blanton
2021Frontiers in Cell and Developmental Biology18 citations Open access
Semantic Scholar
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
G. Bademci, A. Lasisi, K. Yariz, Paola Montenegro +10 more
2015BMC Medical Genetics18 citations Open access
Semantic Scholar
Sirtuin/uncoupling protein gene variants and carotid plaque area and morphology
C. Dong, D. Della-Morte, Digna Cabral, Li-Yong Wang +4 more
2015International Journal of Stroke18 citations Open access
Semantic Scholar
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
F. Tao, G. Beecham, A. Rebelo, S. Blanton +24 more
2019Journal of Neuromuscular Diseases17 citations Open access
Semantic Scholar
Genetic screening as an adjunct to Universal Newborn Hearing Screening: Literature review and implications for non-congenital pre-lingual hearing loss
Christine M. D'Aguillo, Sara E. Bressler, D. Yan, R. Mittal +3 more
2019International Journal of Audiology17 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

Xue-Zhong Liu×19
Invite
Xue-Zhong Liu — researcher profile on SciRah
M. Tekin×16
Invite
M. Tekin — researcher profile on SciRah
D. Yan×13
Invite
D. Yan — researcher profile on SciRah
G. Bademci×11
Invite
G. Bademci — researcher profile on SciRah

×9

Invite

D. Duman — researcher profile on SciRah

Invite

J. Foster — researcher profile on SciRah

Invite

F. Cengiz — researcher profile on SciRah

O. Díaz-Horta×7

Invite

O. Díaz-Horta — researcher profile on SciRah

Invite

J. Hecht — researcher profile on SciRah

Invite

Shengru Guo — researcher profile on SciRah

Invite

R. Sacco — researcher profile on SciRah

Invite

T. Rundek — researcher profile on SciRah