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S. Bidichandani · SciRah

Researcher profile · Semantic Scholar

S. Bidichandani

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S. Bidichandani — researcher profile on SciRah

h-index: 31
Works: 66
Citations: 5,551

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
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
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
E. Tuddenham, R. Schwaab, J. Seehafer, D. Millar +13 more
1994Nucleic Acids Research255 citations Open access
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
Friedreich ataxia- pathogenesis and implications for therapies.
M. Delatycki, S. Bidichandani
2019Neurobiology of Disease147 citations Open access
Semantic Scholar
Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription
I. De Biase, Y. Chutake, Paul M. Rindler, S. Bidichandani
2009PLoS ONE125 citations Open access
Semantic Scholar
Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients
I. De Biase, A. Rasmussen, D. Endres, S. Al-Mahdawi +4 more
2007Annals of Neurology119 citations Open access
Semantic Scholar
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.
I. De Biase, A. Rasmussen, A. Monticelli, S. Al-Mahdawi +3 more
2007Genomics92 citations Open access
Semantic Scholar
Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH.
V. Potaman, Elena A. Oussatcheva, Y. L. Lyubchenko, L. Shlyakhtenko +3 more
2004Nucleic Acids Research91 citations Open access
Semantic Scholar
Analysis of unstable triplet repeats using small-pool polymerase chain reaction.
M. Gomes-Pereira, S. Bidichandani, D. Monckton
2004Methods in molecular biology89 citations
Semantic Scholar
The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
Rhonda M. Clark, I. De Biase, A. Malykhina, S. Al-Mahdawi +2 more
2006Human Genetics76 citations Open access
Semantic Scholar
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.
Rajesh Sharma, Saeeda Bhatti, Marilúz Gómez, Rhonda M. Clark +3 more
2002Human Molecular Genetics73 citations
Semantic Scholar
Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues
R. Bourn, I. De Biase, R. M. Pinto, C. Sandi +3 more
2012PLoS ONE62 citations Open access
Semantic Scholar
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
Laura M. Pollard, Rajesh Sharma, Marilúz Gómez, S. Shah +5 more
2004Nucleic Acids Research61 citations Open access
Semantic Scholar
Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
S. Bidichandani, S. M. Purandare, Ellen E. Taylor, G. Gumin +5 more
1999Human Molecular Genetics60 citations
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
Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population
E. Alonso, L. Martínez-Ruano, I. De Biase, Christopher Mader +9 more
2007Movement Disorders57 citations
Semantic Scholar
Acidic Proline-rich Protein Db and Caries in Young Children
George M. Zakhary, Rhonda M. Clark, S. Bidichandani, W. L. Owen +2 more
2007Journal of dentistry research53 citations
Semantic Scholar
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
S. Bidichandani, Carlos A. Garcia, Pragna Patel, Mazen M. Dimachkie
2000Archives of Neurology52 citations Open access
Semantic Scholar
Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.
Rhonda M. Clark, Gillian L. Dalgliesh, D. Endres, Marilúz Gómez +2 more
2004Genomics50 citations
Semantic Scholar
Friedreich ataxia in carriers of unstable borderline GAA triplet‐repeat alleles
Rajesh Sharma, I. De Biase, Marilúz Gómez, M. Delatycki +2 more
2004Annals of Neurology50 citations
Semantic Scholar
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia
Layne N. Rodden, Y. Chutake, K. Gilliam, Christina C. Lam +8 more
2020Human Molecular Genetics47 citations Open access
Semantic Scholar
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
A. Rasmussen, E. Alonso, A. Ochoa, I. De Biase +7 more
2010BMC Medical Genetics46 citations Open access
Semantic Scholar
Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia
Y. Chutake, Whitney N. Costello, Christina C. Lam, S. Bidichandani
2014Journal of Biological Chemistry45 citations Open access
Semantic Scholar
Epigenetic Promoter Silencing in Friedreich Ataxia is Dependent on Repeat Length
Y. Chutake, Christina C. Lam, Whitney N. Costello, Michael P. Anderson +1 more
2014Annals of Neurology44 citations Open access
Semantic Scholar
Expansion of GAA trinucleotide repeats in mammals.
Rhonda M. Clark, S. Bhaskar, Masaki Miyahara, Gillian L. Dalgliesh +1 more
2006Genomics40 citations Open access
Semantic Scholar
Frataxin fracas
Mireille Cossée, V. Campuzano, Hana Koutnikova, Kurt Fischbeck +13 more
1997Nature Genetics40 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
Circulating human factor IX produced in keratin-promoter transgenic mice: a feasibility study for gene therapy of haemophilia B.
M. Alexander, S. Bidichandani, F. Cousins, C. Robinson +2 more
1995Human Molecular Genetics33 citations
Semantic Scholar
Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats
Paul M. Rindler, Rhonda M. Clark, Laura M. Pollard, I. De Biase +1 more
2006Nucleic Acids Research32 citations Open access
Semantic Scholar
Identification of a positive regulatory element in the myelin‐specific promoter of the PMP22 gene
Mehreen Hai, S. Bidichandani, Pragna I. Patel
2001Journal of Neuroscience Research31 citations
Semantic Scholar
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor
Y. Chutake, Christina C. Lam, Whitney N. Costello, Michael P. Anderson +1 more
2016Nucleic Acids Research25 citations Open access
Semantic Scholar
Repair of DNA double-strand breaks within the (GAA•TTC)n sequence results in frequent deletion of the triplet-repeat sequence
Laura M. Pollard, R. Bourn, S. Bidichandani
2007Nucleic Acids Research20 citations Open access
Semantic Scholar
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17
A. Rasmussen, I. De Biase, Marcela Fragoso-Benítez, Marco Antonio Macías-Flores +5 more
2007Annals of Neurology20 citations
Semantic Scholar
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia
Y. Chutake, Whitney N. Costello, Christina C. Lam, Aniruddha C. Parikh +4 more
2015PLoS ONE19 citations Open access
Semantic Scholar
Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population.
Marilúz Gómez, Rhonda M. Clark, S. Nath, Saeeda Bhatti +4 more
2004Genomics19 citations
Semantic Scholar
Competitive Binding of Triplex-Forming Oligonucleotides in the Two Alternate Promoters of the PMP22 Gene
Mehreen Hai, S. Bidichandani, M. E. Hogan, Pragna I. Patel
2001Antisense and Nucleic Acid Drug Development18 citations
Semantic Scholar
A mild case of Friedreich ataxia: Lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism
Hazem Machkhas, S. Bidichandani, P. Patel, Y. Harati
1998Muscle and Nerve18 citations
Semantic Scholar
Clinical heterogeneity of recessive ataxia in the Mexican population
A. Rasmussen, Marilúz Gómez, E. Alonso, S. Bidichandani
2006Journal of Neurology Neurosurgery & Psychiatry17 citations Open access
Semantic Scholar
Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells
Paul M. Rindler, S. Bidichandani
2010Nucleic Acids Res.14 citations Open access
Semantic Scholar
Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype
S. Bidichandani, W. Lanyon, C. Shiach, R. Shiach +2 more
1995Human Genetics13 citations
Semantic Scholar
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E
Layne N. Rodden, K. Gilliam, Christina C. Lam, Teerapat Rojsajjakul +7 more
2022Scientific Reports11 citations Open access
Semantic Scholar
Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA·TTC)n sequence when GAA is the lagging strand template
Laura M. Pollard, Y. Chutake, Paul M. Rindler, S. Bidichandani
2007Nucleic Acids Research11 citations Open access
Semantic Scholar
Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation
Layne N. Rodden, K. Gilliam, Christina C. Lam, D. Lynch +1 more
2021Frontiers in Neuroscience9 citations Open access
Semantic Scholar
Funding agencies and disease organizations: Resources and recommendations to facilitate ALS clinical research
D. Chad, S. Bidichandani, L. Bruijn, J. Capra +7 more
2013Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration7 citations Open access
Semantic Scholar
E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA·TTC)n sequence
R. Bourn, Paul M. Rindler, Laura M. Pollard, S. Bidichandani
2008Mutation research7 citations Open access
Semantic Scholar
FXN gene methylation determines carrier status in Friedreich ataxia
Christina C. Lam, K. Gilliam, Layne N. Rodden, Kimberly A. Schadt +2 more
2023Journal of Medical Genetics5 citations Open access
Semantic Scholar
CHAPTER 19 – Evolution and Instability of the GAA Triplet-Repeat Sequence in Friedreich's Ataxia
I. De Biase, A. Rasmussen, S. Bidichandani
20065 citations
Semantic Scholar
Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia
Morgan C Devore, Christina C. Lam, Graham Wiley, Courtney C. Park +2 more
2025Human Molecular Genetics4 citations Open access
Semantic Scholar
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
E. Tuddenham, R. Schwaab, J. Seehafer, D. Millar +6 more
1994Nucleic Acids Research4 citations
Semantic Scholar

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