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I. Karbassi · SciRah

Researcher profile · Semantic Scholar

I. Karbassi

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I. Karbassi — researcher profile on SciRah

h-index: 11
Works: 22
Citations: 1,119

Most-cited papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
V. Pejaver, Alicia B. Byrne, Bing Feng, K. Pagel +21 more
2022American Journal of Human Genetics483 citations Open access
Semantic Scholar
The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy
C. Divincenzo, Christopher D. Elzinga, Adam C Medeiros, I. Karbassi +12 more
2014Molecular Genetics & Genomic Medicine190 citations Open access
Semantic Scholar
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
H. Rehm, J. Alaimo, S. Aradhya, P. Bayrak-Toydemir +58 more
2023Genetics in Medicine118 citations Open access
Semantic Scholar
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Philip M. Boone, Bo Yuan, I. Campbell, J. Scull +19 more
2014American Journal of Human Genetics96 citations Open access
Semantic Scholar
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders
I. Karbassi, Glenn A. Maston, A. Love, C. Divincenzo +21 more
2015Human Mutation64 citations Open access
Semantic Scholar
BRCA Share: A Collection of Clinical BRCA Gene Variants
C. Béroud, Stanley I. Letovsky, Corey D. Braastad, S. Caputo +33 more
2016Human Mutation57 citations Open access
Semantic Scholar
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex
M. Hoogeveen-Westerveld, R. Ekong, S. Povey, I. Karbassi +14 more
2012Human Mutation38 citations Open access
Semantic Scholar
THE IDENTIFICATION OF SERUM BIOMARKERS OF HIGH-LET RADIATION EXPOSURE AND BIOLOGICAL SEQUELAE
R. Britten, S. Mitchell, Angela M. Johnson, Sylvia J. Singletary +6 more
2010Health Physics19 citations
Semantic Scholar
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
D. McKnight, Lora J. H. Bean, I. Karbassi, K. Beattie +14 more
2021Human Mutation16 citations Open access
Semantic Scholar
Proteomic expression profiling and identification of serum proteins using immobilized trypsin beads with MALDI-TOF/TOF.
I. Karbassi, J. Nyalwidhe, Christopher E. Wilkins, Lisa H. Cazares +3 more
2009Journal of Proteome Research15 citations Open access
Semantic Scholar
Severe Dilated Cardiomyopathy in a Patient with Myotonic Dystrophy Type 2 and Homozygous Repeat Expansion in ZNF9
Teresa M. Lee, M. Maurer, I. Karbassi, Corey D. Braastad +2 more
2011Congestive Heart Failure14 citations Open access
Semantic Scholar
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts
Natasha Z. R. Steele, Alison R. Bright, Suzee E. Lee, J. Fong +16 more
2018Advances in Genomics and Genetics9 citations Open access
Semantic Scholar
Relative Prevalence of Limb Girdle Muscular Dystrophies in the United States Population (P07.030)
M. Wicklund, C. Divincenzo, Khalida Liaquat, I. Karbassi
2013Neurology3 citations
Semantic Scholar
Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests
H. Rehm, J. Alaimo, S. Aradhya, P. Bayrak-Toydemir +39 more
2022medRxiv1 citations Open access
Semantic Scholar
A Comprehensive Analysis of Allele Frequencies From 476,930 Spinal Muscular Atrophy Test Results [23M]
Matthew C. Evans, Michele McCarthy, Rebecca Moore, I. Karbassi +2 more
2019Obstetrics and Gynecology1 citations
Semantic Scholar
P511: Evaluation of population frequency data for mitochondrial variant interpretation
Glenn A. Maston, P. von Nandelstadh, S. Tuupanen, I. Karbassi +1 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Analysis of 234 Epilepsy Genes for Sequence and Copy Number Variants Using Next Generation Sequencing (P2.288)
Zhenyuan Wang, M. Meservey, I. Karbassi, S. Batish +3 more
2018Neurology0 citations
Semantic Scholar
Analysis of 141 Epilepsy Related Genes Using Next Generation Sequencing in 390 Patients (P5.154)
Zhenyuan Wang, Malgorzata Jaremko, S. Batish, M. Meservey +22 more
2016Neurology0 citations
Semantic Scholar
Frequency of FTLD Mutations in a Commercial Laboratory Versus a Specialty Clinic (P4.036)
N. Rabinowitz, J. Yokoyama, A. Karydas, G. Coppola +13 more
2016Neurology0 citations
Semantic Scholar
The Frequency of Damaging Genetic Variants in a Cohort of Over 1500 Patients with Early Onset Familial Alzheimer’s Disease (P5.163)
Alison R. Bright, I. Karbassi, M. Meservey, J. Yokoyama +8 more
2016Neurology0 citations
Semantic Scholar
Structural and Functional Implications of Modeling Non Synonymous Mutations in Patients with SCN1A -related Seizure Disorders (S29.007)
Mu Gao, Hong-Yi Zhou, I. Karbassi, Khalida Liaquat +3 more
2014Neurology0 citations
Semantic Scholar
Structural and Functional Implications of Modeling Non Synonymous Mutations in Patients with SCN1A -related Seizure Disorders (I5-1.006)
Mu Gao, Hong-Yi Zhou, I. Karbassi, Khalida Liaquat +3 more
2014Neurology0 citations
Semantic Scholar

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