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J. Ganesh · SciRah

Researcher profile · Semantic Scholar

J. Ganesh

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J. Ganesh — researcher profile on SciRah

h-index: 21
Works: 66
Citations: 2,522

Most-cited papers

Microduplications of 16p11.2 are Associated with Schizophrenia
S. Mccarthy, Vladimir Makarov, G. Kirov, A. Addington +68 more
2009Nature Genetics734 citations Open access
Semantic Scholar
Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations
Lee-Jun C. Wong, Robert K. Naviaux, N. Brunetti-Pierri, Qing Zhang +17 more
2008Human Mutation303 citations Open access
Semantic Scholar
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S. Parikh, A. Goldstein, A. Karaa, M. Koenig +31 more
2017Genetics in Medicine294 citations Open access
Semantic Scholar
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
S. Shanske, Jorida Coku, Jie-Sheng Lu, J. Ganesh +6 more
2008Archives of Neurology117 citations
Semantic Scholar
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
B. Bornstein, E. Area, K. Flanigan, J. Ganesh +8 more
2008Neuromuscular Disorders98 citations Open access
Semantic Scholar
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
M. Gil-Rodríguez, M. Deardorff, Morad Ansari, Christopher A. Tan +58 more
2015Human Mutation85 citations Open access
Semantic Scholar
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
A. Spinazzola, R. Santer, Orhan H. Akman, K. Tsiakas +7 more
2008Archives of Neurology75 citations Open access
Semantic Scholar
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
B. Fischer-Zirnsak, N. Escande-Beillard, J. Ganesh, Yu Tan +30 more
2015American Journal of Human Genetics74 citations Open access
Semantic Scholar
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
D. Watkins, J. Schwartzentruber, J. Ganesh, J. Orange +4 more
2011Journal of Medical Genetics65 citations
Semantic Scholar
Medical Staff Attitudes Toward Family Presence During Pediatric Procedures
J. Fein, J. Ganesh, E. Alpern
2004Pediatric emergency care64 citations
Semantic Scholar
Fasting c‐peptide and insulin‐like growth factor‐binding protein‐1 levels help to distinguish childhood type 1 and type 2 diabetes at diagnosis
Lorraine E. Levitt Katz, A. Jawad, J. Ganesh, M. Abraham +2 more
2007Pediatric Diabetes56 citations Open access
Semantic Scholar
Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1
M. Keller, J. Ganesh, M. Heltzer, M. Paessler +5 more
2013Pediatrics53 citations
Semantic Scholar
A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome
Valentina Emmanuele, E. Sotiriou, Purificación Gutiérrez Ríos, J. Ganesh +4 more
2012Journal of Child Neurology44 citations Open access
Semantic Scholar
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
M. F. Basilicata, A. Bruel, Giuseppe Semplicio, C. Valsecchi +37 more
2018Nature Genetics42 citations Open access
Semantic Scholar
Mitochondrial diseases in North America
E. Barca, Yuelin Long, V. Cooley, R. Schoenaker +31 more
2020Neurology: Genetics36 citations Open access
Semantic Scholar
Mitochondrial tRNAPhe mutation as a cause of end-stage renal disease in childhood
K. D’Aco, M. Manno, C. Clarke, J. Ganesh +2 more
2012Pediatric nephrology (Berlin, West)36 citations Open access
Semantic Scholar
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
S. Parikh, A. Goldstein, M. Koenig, F. Scaglia +28 more
2014Mitochondrion (Amsterdam. Print)35 citations
Semantic Scholar
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
Guo-Li Wang, Jing Wang, G. Douglas, M. Browning +7 more
2011Molecular Genetics and Metabolism32 citations
Semantic Scholar
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
M. Levin, S. Saitta, K. Gripp, T. Wenger +12 more
2018American Journal of Medical Genetics. Part A31 citations Open access
Semantic Scholar
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
M. Deardorff, Himabindu Gaddipati, P. Kaplan, P. Sanchez-Lara +10 more
2008Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
V. Emmanuele, J. Ganesh, Georgirene Vladutiu, R. Haas +12 more
2022Molecular Genetics and Metabolism23 citations Open access
Semantic Scholar
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features
Samin A. Sajan, J. Ganesh, D. Shinde, Z. Powis +4 more
2018Journal of Medical Genetics17 citations
Semantic Scholar
A study on the clinical profile of scorpion envenomation in children
K. Arivoli, J. Ganesh
201516 citations Open access
Semantic Scholar
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation
R. Ganetzky, K. Izumi, A. Edmondson, C. Muraresku +3 more
2015American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
What new information pediatric autopsies can provide: a retrospective evaluation of 100 consecutive autopsies using family-centered criteria.
J. Feinstein, L. Ernst, J. Ganesh, C. Feudtner
2007Archives of Pediatrics & Adolescent Medicine15 citations
Semantic Scholar
Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome
F. Hazard, C. Ficicioglu, J. Ganesh, E. Ruchelli
2013Pediatric and Developmental Pathology14 citations
Semantic Scholar
A study on the clinical profile of children with snake envenomation in a tertiary referral centre at Dharmapuri, Tamilnadu, India -
K. Kumaravel, J. Ganesh
201612 citations Open access
Semantic Scholar
Reversibility of brainstem evoked response audiometry abnormalities at 3 months in term newborns with hyperbilirubinemia
M. Vinodh, P. Ambikapathy, M. Aravind, J. Ganesh
2014Indian Pediatrics11 citations
Semantic Scholar
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
C. Coughlin, Ian D. Krantz, E. Schmitt, Shulin Zhang +3 more
2010Molecular Genetics and Metabolism11 citations
Semantic Scholar
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
B. Webb, S. Nowinski, Ashley Solmonson, J. Ganesh +9 more
2022medRxiv10 citations Open access
Semantic Scholar
Significant liver disease in a patient with Y116H mutation in the MVK gene
Melissa Leyva-Vega, P. Weiss, J. Ganesh, L. Conlin +2 more
2011American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Phenotypic continuum of NFU1 ‐related disorders
R. Kaiyrzhanov, M. Zaki, Tracy Lau, Sambuddha Sen +42 more
2022Annals of Clinical and Translational Neurology8 citations Open access
Semantic Scholar
Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia
Andres H. Pena, P. Kaplan, J. Ganesh, Egor Clevac +1 more
2009Pediatric Radiology8 citations
Semantic Scholar
A STUDY ON IMPACT OF NRHM ON NEONATAL CARE AND CLINICAL PROFILE OF NEONATES ADMITTED IN A SNCU OF A RURAL MEDICAL COLLEGE
S. KumaravelK., J. Ganesh, J. Balaji, K. Pugalendhiraja +1 more
20156 citations Open access
Semantic Scholar
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Monica Penon-Portmann, Sheri A. Poskanzer, J. Ganesh, Irene J. Chang
2023Genetics in medicine open5 citations Open access
Semantic Scholar
Unusual cardiac "masses" in a newborn with infantile pompe disease.
D. Swarr, B. Kaufman, M. Fogel, R. Finkel +1 more
2012JIMD Reports5 citations Open access
Semantic Scholar
eP187: Decentralization of clinical trials in the era of COVID-19: Implications for rare disease trials
K. Manjrekar, Mary Freeman, Karli Hedstrom, Luca Fierro +4 more
2022Genetics in Medicine4 citations Open access
Semantic Scholar
A phase I/II multicenter gene therapy clinical study for Fabry disease
D. Hughes, O. Goker-Alpan, J. Ganesh, Heather Lau +3 more
2020Molecular Genetics and Metabolism4 citations
Semantic Scholar
The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
N. Zeid, Chanan Stauffer, Amy C. Yang, Hetanshi Naik +3 more
2020Molecular Genetics and Metabolism Reports4 citations Open access
Semantic Scholar
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: A unique case of γ‐hydroxybutyric aciduria and Williams syndrome
I. Knerr, K. M. Gibson, J. Ganesh, Michael J. Bennett +3 more
2007American Journal of Medical Genetics Part B: Neuropsychiatric Genetics4 citations
Semantic Scholar
Response to Newman et al.
S. Parikh, A. Goldstein, A. Karaa, M. Koenig +31 more
2017Genetics in Medicine3 citations Open access
Semantic Scholar
Mitochondrial Respiratory Chain Complex II
J. Ganesh, L. Wong, Elizabeth Gorman
20133 citations
Semantic Scholar
A False-positive Newborn Screening Result: Goat's Milk Acidopathy
K. Chapman, J. Ganesh, C. Ficicioglu
2008Pediatrics3 citations
Semantic Scholar
STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results
R. Hopkin, J. Ganesh, P. Deegan, O. Goker-Alpan +14 more
2023Molecular Genetics and Metabolism2 citations
Semantic Scholar
Complicated cases and the need for individualized follow up plans for children diagnosed with Pompe disease via newborn screening
S. Austin, A. Iglesias, C. Ficicioglu, J. Ganesh +2 more
20202 citations
Semantic Scholar
Incidental findings on liver autopsy with specific emphasis on Hepatitis B
J. Ganesh, V. Chander, J. Mahendran
20172 citations Open access
Semantic Scholar
Late-onset Pompe disease with atypical presentation: What else is going on?
J. Ganesh, M. Scarano, M. Hardiman, P. Kishnani
20172 citations
Semantic Scholar
P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY
J. Villarrubia, J. Ganesh, R. Giugliani, N. Guffon +8 more
2023HemaSphere1 citations Open access
Semantic Scholar
eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia offers targeted therapeutic options to counteract neurotransmitter deficiency
Colleen Donnelly, J. Ganesh, Emalyn E. Cork, L. Estrella +5 more
2022Genetics in Medicine1 citations Open access
Semantic Scholar
PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY
H. Levy, Janet A. Thomas, C. Ficicioglu, Melissa Lah +8 more
2022Molecular Genetics and Metabolism1 citations
Semantic Scholar

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