Pragna I. Patel

Neuroscience · Life Sciences

49h-index12.9kcitations150works0.02yr avg
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Research Topics

Hereditary Neurological Disorders(36), Genomic variations and chromosomal abnormalities(21), Genetic Neurodegenerative Diseases(19), dental development and anomalies(17), RNA Research and Splicing(14)

Publications144 total

Comparative Analysis of Trisomy 21 in Humans and Chimpanzees: Into Evolutionary Divergence, Physical and Cognitive
2025Open Access
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
Human Molecular Genetics·2020Open Access
RNA-sequencing analysis of biopsies from chronic liver disease patients identifies gene signatures associated with progressive liver disease
Journal of Hepatology·2018
PAX9 and Hypodontia
Oxford University Press eBooks·2016
Hypodontia: genetics and future Hypodontia: genetics and future perspectives
LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)·2015· 2 citedOpen Access
Chromosome separation using microfluidic technology
UCL Discovery (University College London)·2015
A mutation in the canine gene encoding folliculin‐interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination
Glia·2013· 15 citedOpen Access
Whither Hope for Pharmacological Treatment of Charcot-Marie-Tooth Disease Type 1A?
JAMA Neurology·2013· 8 cited
The association between serological and dietary vitamin D levels and hepatitis C‐related liver disease risk differs in African American and white males
Alimentary Pharmacology & Therapeutics·2013· 9 citedOpen Access
Study of variations in the shape of the suprascapular notch in dried human scapula
2013· 6 cited
ESTIMATION OF TOTAL LENGTH OF HUMERUS FROM ITS PROXIMAL AND DISTAL SEGMENTS
2013· 1 cited
MORPHOMETRIC ANALYSIS OF HARD PALATE
2013· 9 cited
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
Human Molecular Genetics·2012· 44 citedOpen Access
The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
PLoS Genetics·2012· 100 citedOpen Access
Impact of restricted marital practices on genetic variation in an endogamous Gujarati group
American Journal of Physical Anthropology·2012· 24 citedOpen Access
X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3
The American Journal of Human Genetics·2011· 89 citedOpen Access
The correlation between latitude and minor allele frequency of the SNPs () g
Figshare·2011Open Access
X-Ray Structure of Lin1025 protein from Listeria innocua, Northeast Structural Genomics Consortium Target LkR164
2010
A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia
Clinical Genetics·2010· 12 cited
Tooth dimensions in hypodontia with a known PAX9 mutation
Archives of Oral Biology·2008· 47 cited
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Frequent Co-authors

James R. Lupski(12), Pentao Liu(8), Sanjay I. Bidichandani(7), Parimal Das(7), A. Craig Chinault(6), Frank Greenberg(6), Massimo Pandolfo(4), David W. Stockton(4), Carol A. Wise(4), David H. Ledbetter(4), James M. Killian(3), Carlos A. Garcia(3), Aravinda Chakravarti(3), Rena N. D’Souza(3), Tetsuo Ashizawa(3), Benjamin B. Roa(3), Ueli Suter(3), G. Jackson Snipes(3), Paul E. Framson(3), C. Thomas Caskey(3)