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

I. Manoli · SciRah

Researcher profile · Semantic Scholar

I. Manoli

Share profile

I. Manoli — researcher profile on SciRah

h-index: 33
Works: 110
Citations: 3,443

Most-cited papers

Mitochondria as key components of the stress response.
I. Manoli, S. Alesci, M. Blackman, Yan A. Su +2 more
2007Trends in endocrinology and metabolism384 citations
Semantic Scholar
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
B. Galeano, R. Klootwijk, I. Manoli, Mao-Sen Sun +9 more
2007Journal of Clinical Investigation208 citations Open access
Semantic Scholar
Glucocorticoid Receptor (GR) β Has Intrinsic, GRα-independent Transcriptional Activity
T. Kino, I. Manoli, S. Kelkar, Yonghong Wang +2 more
2009Biochemical and Biophysical Research Communications - BBRC150 citations Open access
Semantic Scholar
Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism
C. Lerin, A. Goldfine, Tanner Boes, Man-Way Liu +13 more
2016Molecular Metabolism138 citations Open access
Semantic Scholar
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Hung-Chun Yu, J. Sloan, G. Scharer, Alison Brebner +14 more
2013American Journal of Human Genetics133 citations Open access
Semantic Scholar
Isolated Methylmalonic Acidemia
I. Manoli, J. Sloan, C. Venditti
2016125 citations
Semantic Scholar
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
I. Manoli, J. Sysol, Lingli Li, P. Houillier +19 more
2013Proceedings of the National Academy of Sciences of the United States of America115 citations Open access
Semantic Scholar
Disorders of branched chain amino acid metabolism
I. Manoli, Charles P. Venditti
2016Translational Science of Rare Diseases107 citations Open access
Semantic Scholar
Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
J. Sloan, J. Johnston, I. Manoli, R. Chandler +20 more
2011Nature Genetics105 citations Open access
Semantic Scholar
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Silvio Alessandro Di Gioia, S. Connors, N. Matsunami, Jessica Cannavino +31 more
2017Nature Communications96 citations Open access
Semantic Scholar
Brx Mediates the Response of Lymphocytes to Osmotic Stress Through the Activation of NFAT5
T. Kino, Hiroaki Takatori, I. Manoli, Yonghong Wang +6 more
2009Science Signaling95 citations Open access
Semantic Scholar
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)
I. Manoli, J. Myles, J. Sloan, O. Shchelochkov +1 more
2015Genetics in Medicine91 citations Open access
Semantic Scholar
Update on transcobalamin deficiency: clinical presentation, treatment and outcome
Y. Trakadis, A. Alfares, O. Bodamer, M. Buyukavci +22 more
2014Journal of Inherited Metabolic Disease71 citations
Semantic Scholar
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.
I. Manoli, J. Sysol, M. Epping, Li-Na Li +27 more
2018JCI Insight66 citations Open access
Semantic Scholar
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.
N. Hauser, I. Manoli, Jennifer Graf, J. Sloan +1 more
2011American Journal of Clinical Nutrition64 citations Open access
Semantic Scholar
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in Caucasians.
Jeffrey I. Cohen, I. Manoli, K. Dowdell, T. Krogmann +18 more
2019Blood60 citations Open access
Semantic Scholar
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin
PamelaSara E. Head, S. Myung, Yong Chen, Jessica L. Schneller +8 more
2022Science Translational Medicine51 citations Open access
Semantic Scholar
Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging
KowsalyaDevi Pavuluri, I. Manoli, Alexandra R. Pass, Yuguo Li +3 more
2019Science Advances51 citations Open access
Semantic Scholar
Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting
Jeffrey I. Cohen, K. Iwatsuki, Y. Ko, H. Kimura +5 more
2019Leukemia and Lymphoma51 citations Open access
Semantic Scholar
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency
B. Brooks, A. H. Thompson, J. Sloan, I. Manoli +3 more
2016Ophthalmology (Rochester, Minn.)50 citations Open access
Semantic Scholar
Neurocognitive Phenotype of Isolated Methylmalonic Acidemia
Colin J. O’Shea, J. Sloan, E. Wiggs, M. Pao +5 more
2012Pediatrics50 citations Open access
Semantic Scholar
Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?
J. Sloan, I. Manoli, C. Venditti
2015Jornal de Pediatria46 citations
Semantic Scholar
Renal Growth in Isolated Methylmalonic Acidemia (MMA)
P. Kruszka, I. Manoli, J. Sloan, J. Kopp +1 more
2013Genetics in Medicine44 citations Open access
Semantic Scholar
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).
I. Manoli, J. Myles, J. Sloan, Nuria Carrillo-Carrasco +4 more
2015Genetics in Medicine41 citations Open access
Semantic Scholar
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
E. H. Baker, J. Sloan, N. S. Hauser, A. Gropman +4 more
2015American Journal of Neuroradiology39 citations Open access
Semantic Scholar
Glucocorticoid receptor (GR) has intrinsic, GRa-independent transcriptional activity
T. Kino, I. Manoli, S. Kelkar, Yonghong Wang +1 more
200939 citations
Semantic Scholar
Chronic Kidney Disease in Propionic Acidemia
O. Shchelochkov, I. Manoli, J. Sloan, S. Ferry +9 more
2019Genetics in Medicine37 citations Open access
Semantic Scholar
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
A. Telegrafi, B. Webb, Sarah M. Robbins, C. Speck-Martins +15 more
2017American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia (MMA)
I. Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra R. Pass +12 more
2023Journal of Inherited Metabolic Disease33 citations Open access
Semantic Scholar
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia
Elizabeth A Harrington, J. Sloan, I. Manoli, R. Chandler +5 more
2016Human Gene Therapy33 citations Open access
Semantic Scholar
The Gne M712T mouse as a model for human glomerulopathy.
Sravan Kakani, T. Yardeni, J. Poling, C. Ciccone +11 more
2012American Journal of Pathology33 citations Open access
Semantic Scholar
ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia
P. Ilyinskii, Alicia M. Michaud, G. Rizzo, C. Roy +12 more
2021Molecular Therapy: Methods & Clinical Development32 citations Open access
Semantic Scholar
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
A. P. Tenney, Silvio Alessandro Di Gioia, B. Webb, W. Chan +54 more
2023Nature Genetics27 citations Open access
Semantic Scholar
Effects of Medical Food Leucine Content in the Management of Methylmalonic and Propionic Acidemias
J. Myles, I. Manoli, C. Venditti
2018Current opinion in clinical nutrition and metabolic care27 citations Open access
Semantic Scholar
Chediak-Higashi Syndrome with early Developmental Delay resulting from Paternal Heterodisomy of Chromosome 1
I. Manoli, Gretchen A. Golas, W. Westbroek, T. Vilboux +10 more
2010American Journal of Medical Genetics. Part A26 citations Open access
Semantic Scholar
Third-generation human mitochondria-focused cDNA microarray and its bioinformatic tools for analysis of gene expression.
Xueyan Bai, Jun Wu, Qiuyang Zhang, S. Alesci +6 more
2007BioTechniques26 citations Open access
Semantic Scholar
Severity modeling of propionic acidemia using clinical and laboratory biomarkers
O. Shchelochkov, I. Manoli, P. Juneau, J. Sloan +16 more
2021Genetics in Medicine24 citations Open access
Semantic Scholar
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
M. Whitman, B. Barry, C. Robson, F. Facio +32 more
2021Human Genetics24 citations Open access
Semantic Scholar
High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency
T. Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, J. Sloan +6 more
2019JIMD Reports24 citations Open access
Semantic Scholar
Comparison of Three-Dimensional Surface Imaging Systems Using Landmark Analysis.
D. K. Liberton, R. Mishra, M. Beach, A. Raznahan +3 more
2019The Journal of craniofacial surgery (Print)24 citations
Semantic Scholar
Methylmalonic Acidemia (MMA) in pregnancy: A case series and literature review
Donna B. Raval, M. Merideth, J. Sloan, N. Braverman +3 more
2015Journal of Inherited Metabolic Disease23 citations Open access
Semantic Scholar
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
S. Sparks, G. Rakocevic, G. Joe, I. Manoli +9 more
2007BMC Neurology21 citations Open access
Semantic Scholar
Delineating the Spectrum of Impairments, Disabilities, and Rehabilitation Needs in Methylmalonic Acidemia (MMA)
Yiouli P. Ktena, Scott M. Paul, N. S. Hauser, J. Sloan +3 more
2015American Journal of Medical Genetics. Part A20 citations Open access
Semantic Scholar
Chronic myopathy due to immunoglobulin light chain amyloidosis
I. Manoli, J. Kwan, Qian Wang, E. Rushing +6 more
2013Molecular Genetics and Metabolism20 citations Open access
Semantic Scholar
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.
N. Sadeghi, E. Hutchinson, C. Van Ryzin, E. FitzGibbon +9 more
2020Brain Communications18 citations Open access
Semantic Scholar
Allele‐specific silencing of the dominant disease allele in sialuria by RNA interference
R. Klootwijk, P. Savelkoul, C. Ciccone, I. Manoli +4 more
2008The FASEB Journal17 citations Open access
Semantic Scholar
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
I. Manoli, Alexandra R. Pass, Elizabeth A Harrington, J. Sloan +17 more
2021Genetics in Medicine16 citations Open access
Semantic Scholar
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients
Yiouli P. Ktena, Trygg Ramstad, E. Baker, J. Sloan +3 more
2015Journal of Inherited Metabolic Disease16 citations Open access
Semantic Scholar
Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics
S. Alesci, I. Manoli, Vj Michopoulos, Fm Brouwers +6 more
2006The Pharmacogenomics Journal16 citations Open access
Semantic Scholar
Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9
R. Chandler, G. Di Pasquale, J. Sloan, Samantha McCoy +5 more
2022Molecular Therapy: Methods & Clinical Development14 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

C. Venditti×28
Invite
C. Venditti — researcher profile on SciRah
J. Sloan×23
Invite
J. Sloan — researcher profile on SciRah
C. Van Ryzin×8
Invite
C. Van Ryzin — researcher profile on SciRah
M. Huizing×6
Invite
M. Huizing — researcher profile on SciRah

×6

Invite

R. Chandler — researcher profile on SciRah

Alexandra R. Pass×6

Invite

Alexandra R. Pass — researcher profile on SciRah

Invite

Yan A. Su — researcher profile on SciRah

Invite

B. Webb — researcher profile on SciRah

Invite

E. Jabs — researcher profile on SciRah

Invite

E. Engle — researcher profile on SciRah

Invite

J. Myles — researcher profile on SciRah

Invite

G. Chrousos — researcher profile on SciRah