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P. Patel · SciRah

Researcher profile · Semantic Scholar

P. Patel

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P. Patel — researcher profile on SciRah

h-index: 40
Works: 75
Citations: 10K

Most-cited papers

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
V. Campuzano, L. Montermini, M. Moltó, L. Pianese +23 more
1996Science2,777 citations
Semantic Scholar
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
J. Lupski, R. M. de Oca-Luna, S. Slaugenhaupt, L. Pentao +8 more
1991Cell1,379 citations
Semantic Scholar
Mutation of PAX9 is associated with oligodontia
D. Stockton, P. Das, M. Goldenberg, R. D'Souza +1 more
2000Nature Genetics549 citations
Semantic Scholar
The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A
P. Patel, B. Roa, A. Welcher, R. Schoener-Scott +8 more
1992Nature Genetics520 citations
Semantic Scholar
Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
L. Pentao, C. Wise, A. Chinault, P. Patel +1 more
1992Nature Genetics430 citations
Semantic Scholar
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
S. Bidichandani, T. Ashizawa, P. Patel
1998American Journal of Human Genetics393 citations Open access
Semantic Scholar
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
F. Greenberg, V. Guzzetta, R. M. de Oca-Luna, R. Magenis +6 more
1991American Journal of Human Genetics366 citations
Semantic Scholar
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
J. Lupski, C. Wise, A. Kuwano, L. Pentao +5 more
1992Nature Genetics289 citations
Semantic Scholar
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
C. Wise, Carlos A. Garcia, Stewart N. Davis, He-Ju Zhang +3 more
1993American Journal of Human Genetics212 citations
Semantic Scholar
Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes.
P. Yen, P. Patel, A. Chinault, T. Mohandas +1 more
1984Proceedings of the National Academy of Sciences of the United States of America188 citations Open access
Semantic Scholar
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients
Thomas P. Yang, P. Patel, A. Chinault, J. Stout +3 more
1984Nature182 citations
Semantic Scholar
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia
P. Das, D. Stockton, Christopher R. Bauer, L. Shaffer +3 more
2002Human Genetics163 citations
Semantic Scholar
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
S. Bidichandani, T. Ashizawa, P. Patel
1997American Journal of Human Genetics153 citations
Semantic Scholar
Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine
Nan Yang, Hong-Zhe Li, L. Criswell, P. Gregersen +7 more
2005Human Genetics152 citations
Semantic Scholar
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.
P. Cavadini, C. Gellera, P. Patel, G. Isaya
2000Human Molecular Genetics146 citations
Semantic Scholar
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
R. Juyal, L. Figuera, X. Hauge, S. Elsea +4 more
1996American Journal of Human Genetics144 citations
Semantic Scholar
Novel missense mutations and a 288‐bp exonic insertion in PAX9 in families with autosomal dominant hypodontia
P. Das, Mehreen Hai, C. Elcock, Suzanne M. Leal +3 more
2003American Journal of Medical Genetics. Part A131 citations Open access
Semantic Scholar
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
W. Bi, Sung-Sup Park, Christine J. Shaw, Marjorie A. Withers +2 more
2003American Journal of Human Genetics129 citations Open access
Semantic Scholar
Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies
Mehreen Hai, N. Muja, George H. de Vries, R. Quarles +1 more
2002Journal of Neuroscience Research114 citations
Semantic Scholar
The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
Chen Ng, Ping Wu, J. Foley, A. Foley +12 more
2012PLoS Genetics106 citations Open access
Semantic Scholar
Low Levels of Genetic Divergence across Geographically and Linguistically Diverse Populations from India
N. Rosenberg, S. Mahajan, Catalina González-Quevedo, Michael G. B. Blum +9 more
2006PLoS Genetics103 citations Open access
Semantic Scholar
Evidence that a gene for essential tremor maps to chromosome 2p in four families
J. Higgins, J. M. Loveless, J. Jankovic, P. Patel
1998Movement Disorders102 citations
Semantic Scholar
Organization of the HPRT gene and related sequences in the human genome
P. Patel, Robert L. Nussbaum, Paul E. Framson, D. Ledbetter +2 more
1984Somatic Cell Genetics97 citations
Semantic Scholar
Human 12(R)-Lipoxygenase and the Mouse Ortholog
Du-Xin Sun, M. Mcdonnell, Xin-Sheng Chen, M. Lakkis +5 more
1998Journal of Biological Chemistry85 citations Open access
Semantic Scholar
Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia
M. Goldenberg, P. Das, M. Messersmith, David W. Stockton +2 more
2000Journal of dentistry research84 citations
Semantic Scholar
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
P. Patel, B. Franco, C. Garcia, S. Slaugenhaupt +4 more
1990American Journal of Human Genetics82 citations
Semantic Scholar
Hypodontia: genetics and future perspectives
T. Pemberton, P. Das, P. Patel
200570 citations
Semantic Scholar
Spontaneous reversion of novel Lesch-Nyhan mutation byHPRT gene rearrangement
Thomas P. Yang, J. Stout, D. Konecki, P. Patel +2 more
1988Somatic Cell Genetics70 citations
Semantic Scholar
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
Hongwen Zhu, D. Shang, Miao Sun, Sunju Choi +14 more
2011American Journal of Human Genetics63 citations Open access
Semantic Scholar
Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells.
F. Desarnaud, S. Bidichandani, P. Patel, E. Baulieu +1 more
2000Brain Research58 citations
Semantic Scholar
Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1
L. Figuera, M. Pandolfo, P. W. Dunne, J. Cantú +1 more
1995Nature Genetics57 citations
Semantic Scholar
A novel Gln358Glu mutation in ectodysplasin A associated with X‐linked dominant incisor hypodontia
P. Tarpey, T. Pemberton, D. Stockton, P. Das +8 more
2007American Journal of Medical Genetics. Part A55 citations
Semantic Scholar
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients
B. Trask, H. Mefford, G. J. van den Engh, H. Massa +10 more
1996Human Genetics52 citations
Semantic Scholar
Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples.
V. Nimgaonkar, A. Sanders, R. Ganguli, X.-R. Zhang +5 more
1996American journal of medical genetics51 citations
Semantic Scholar
Familial essential tremor in 4 kindreds. Prospects for genetic mapping.
J. Jankovic, J. Beach, M. Pandolfo, P. Patel
1997Archives of Neurology50 citations
Semantic Scholar
Prevalence of common disease-associated variants in Asian Indians
T. Pemberton, Niyati U. Mehta, D. Witonsky, A. Di Rienzo +3 more
2008BMC Genetics47 citations Open access
Semantic Scholar
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Tyler Beck, D. Veenma, O. Shchelochkov, Zhiyin Yu +13 more
2013Human Molecular Genetics44 citations Open access
Semantic Scholar
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
P. Patel, C. Garcia, R. M. de Oca-Luna, R. Malamut +4 more
1990American Journal of Human Genetics43 citations
Semantic Scholar
Using Population Mixtures to Optimize the Utility of Genomic Databases: Linkage Disequilibrium and Association Study Design in India
T. Pemberton, M. Jakobsson, D. Conrad, G. Coop +4 more
2008Annals of Human Genetics41 citations Open access
Semantic Scholar
Frataxin fracas
Mireille Cossée, V. Campuzano, Hana Koutnikova, Kurt Fischbeck +13 more
1997Nature Genetics40 citations
Semantic Scholar
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3
Gustavo Mendoza, T. Pemberton, Kwanghyuk Lee, R. Scarel-Caminaga +9 more
2006Human Genetics33 citations Open access
Semantic Scholar
Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis
R. Lucas, C. Vlangos, P. Das, P. Patel +1 more
2001European Journal of Human Genetics33 citations
Semantic Scholar
Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.
S.-P. Yang, S. Bidichandani, L. Figuera, Ramesh C. Juyal +3 more
1997American Journal of Human Genetics33 citations
Semantic Scholar
Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis
T. Pemberton, Fang-Yuan Li, S. Oka, Gustavo A. Mendoza-Fandino +6 more
2007Developmental Dynamics30 citations Open access
Semantic Scholar
A simple method for DNA isolation from clotted blood extricated rapidly from serum separator tubes.
Steven Se Fum Wong, Jeffrey J Kuei, N. Prasad, Etsemaye P. Agonafer +3 more
2007Clinical Chemistry30 citations Open access
Semantic Scholar
Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
V. Guzzetta, R. M. de Oca-Luna, J. R. Lupski, P. Patel
1991Genomics29 citations
Semantic Scholar
Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia.
A. Sanders, D. Rincon-Limas, R. Chakraborty, B. Grandchamp +3 more
1993Schizophrenia Research25 citations
Semantic Scholar
Impact of restricted marital practices on genetic variation in an endogamous Gujarati group
T. Pemberton, Fang-Yuan Li, E. Hanson, Niyati U. Mehta +6 more
2012American Journal of Physical Anthropology24 citations Open access
Semantic Scholar
Regulation of the Hypoxanthine Phosphoribosyltransferase Gene: In Vitro and In Vivo Approaches
S. Jiralerspong, P. Patel
1996Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine23 citations
Semantic Scholar
Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element
D. Rincon-Limas, D. A. Krueger, P. Patel
1991Molecular and Cellular Biology22 citations Open access
Semantic Scholar

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J. Lupski×8
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P. Das×8
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T. Pemberton×8
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S. Bidichandani×6
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L. Pentao — researcher profile on SciRah

R. M. de Oca-Luna×4

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D. Stockton — researcher profile on SciRah

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A. Chinault — researcher profile on SciRah

F. Greenberg×4

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L. Figuera — researcher profile on SciRah

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