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Coumarane Mani
Observed name:
Mani Coumarane
Institution:
ARUP Laboratories (United States)
Observed institutions:
Washington University in St. Louis,
University of Utah,
ARUP Laboratories (United States)
OpenAlex ID:
A5002467692
Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience
2023
·
Archana M. Agarwal
, Valarie McMurty
, et al.
·
European Journal Of Haematology
·
16
Novel Mutations in SUPT5H Gene Associated With Beta‐Thalassemia Phenotype
2025
·
Archana M. Agarwal
, Anton Rets
, et al.
·
International Journal of Laboratory Hematology
·
3
PDF
P698: Identification of a novel de novo AFF4 missense variant in an infant with clinical features resembling CHOPS syndrome
2026
·
Coumarane Mani
, Patti Krautscheid
, et al.
·
Genetics in Medicine Open
PDF
80. Integrating expert knowledge for somatic variant interpretation: Achievements and future directions of ClinGen somatic
2025
·
Jason Saliba
, Arpad Danos
, et al.
·
Cancer Genetics
18: Re-evaluation of genomic CNVs overlapping new dosage sensitive genes at an academic reference laboratory in accordance with ClinGen dosage sensitivity curation
2025
·
Denise I. Quigley
, Daniel P. Reich
, et al.
·
Genetics in Medicine Open
PDF
41. Step 2 updates for the oncogenic assessment of FLT3 variants by the ClinGen FLT3 somatic cancer variant curation expert
2024
·
Nathan Kopp
, Mani Coumarane
, et al.
·
Cancer Genetics
P603: Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients
2024
·
Lucilla Pizzo
, Jian Zhao
, et al.
·
Genetics in Medicine Open
PDF
P631: Case report: Haploinsufficiency of the HMGB1 gene causes 13q12.3 microdeletion syndrome
2024
·
Ting Wen
, Brian Shayota
, et al.
·
Genetics in Medicine Open
A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency
2024
·
Ting Wen
, Brian J. Shayota
, et al.
·
Case Reports in Genetics
PDF
59. Oncogenic assessment of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation Expert Panel
2023
·
Jason Saliba
, Coumarane Mani
, et al.
·
Cancer Genetics
Dissecting the Knowns for the Unknowns: Refining the Classification of Genomic Variations in Hematological Diseases By the Clingen Hematological Cancer Taskforce (HCT)
2022
·
Yuwen Li
, Jason Saliba
, et al.
·
Blood
120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel
2022
·
Xiangqiang Shao
, Jason Saliba
, et al.
·
Cancer Genetics
OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory
2022
·
Jian Zhao
, Lewis Zoe
, et al.
·
Genetics in Medicine
PDF
48. Crowdsourcing expert curation of somatic variants by the ClinGen Somatic Hematologic Cancer Taskforce
2022
·
Shruti Rao
, Jason Saliba
, et al.
·
Cancer Genetics
Expert Curation of Somatic FLT3 Variants By the Clingen Somatic Hematologic Cancer Taskforce (ClinGen HCT)
2021
·
Xiangqiang Shao
, Shruti Rao
, et al.
·
Blood
Expert Curation of Somatic Variants in Hematological Malignancies By the Clingen Somatic Hematological Cancer Taskforce (ClinGen HCT)
2020
·
Rashmi Kanagal-Shamanna
, Shruti Rao
, et al.
·
Blood
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Works count:
16
Citation count:
19
H-index:
2
I10-index:
1
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