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V. Jobanputra · SciRah

Researcher profile · Semantic Scholar

V. Jobanputra

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V. Jobanputra — researcher profile on SciRah

h-index: 34
Works: 178
Citations: 6,583

Most-cited papers

Best practices for the interpretation and reporting of clinical whole genome sequencing
C. Austin-Tse, V. Jobanputra, D. Perry, D. Bick +19 more
2022npj Genomic Medicine134 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
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
L. Amendola, Kathleen Muenzen, L. Biesecker, Kevin M. Bowling +26 more
2020American Journal of Human Genetics81 citations Open access
Semantic Scholar
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care
E. Cuppen, O. Elemento, R. Rosenquist, S. Nikić +19 more
2022JCO Precision Oncology63 citations Open access
Semantic Scholar
Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Ryan Schmidt, Marcie A. Steeves, P. Bayrak-Toydemir, Katherine A. Benson +23 more
2023Genetics in Medicine58 citations
Semantic Scholar
Clinical utility of genomic sequencing: a measurement toolkit
R. Hayeems, David Dimmock, D. Bick, J. Belmont +8 more
2020npj Genomic Medicine58 citations Open access
Semantic Scholar
Clinical utility of whole-genome sequencing in precision oncology.
R. Rosenquist, E. Cuppen, R. Buettner, C. Caldas +10 more
2021Seminars in Cancer Biology54 citations
Semantic Scholar
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
C. Marshall, D. Bick, J. Belmont, S. Taylor +6 more
2020Genome Medicine50 citations Open access
Semantic Scholar
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, B. Cogné, A. Santini, E. Leitão +260 more
2024Nature Genetics49 citations Open access
Semantic Scholar
Analytical Demands to Use Whole-Genome Sequencing in Precision Oncology.
M. Meggendorfer, V. Jobanputra, K. Wrzeszczynski, P. Roepman +10 more
2021Seminars in Cancer Biology47 citations Open access
Semantic Scholar
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
Noura S. Abul-Husn, Priya N. Marathe, Nicole R. Kelly, K. Bonini +23 more
2023medRxiv38 citations Open access
Semantic Scholar
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more
2023Journal of Clinical Investigation35 citations Open access
Semantic Scholar
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
Kristen M. Wigby, Deanna Brockman, G. Costain, Caitlin Hale +10 more
2024npj Genomic Medicine30 citations Open access
Semantic Scholar
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease
T. Hays, R. Hernan, Michel Disco, Emily L. Griffin +14 more
2023Circulation Genomic and Precision Medicine26 citations Open access
Semantic Scholar
Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology.
V. Jobanputra, K. Wrzeszczynski, R. Büttner, C. Caldas +6 more
2021Seminars in Cancer Biology24 citations
Semantic Scholar
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L. Weng, A. Majmundar, Kamal Khan, Tze Y. Lim +63 more
2021American Journal of Human Genetics23 citations Open access
Semantic Scholar
Clinical Impact of Telomere Length Testing for Interstitial Lung Disease.
David Zhang, C. Eckhardt, C. McGroder, S. Benesh +7 more
2024Chest21 citations Open access
Semantic Scholar
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
A. Alkelai, L. Greenbaum, Shahar Shohat, G. Povysil +11 more
2023Schizophrenia Research20 citations
Semantic Scholar
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
M. Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, A. Dharmadhikari +12 more
2022Scientific Reports20 citations Open access
Semantic Scholar
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study
Emily L. Griffin, S. Nees, S. Morton, J. Wynn +26 more
2023Circulation Genomic and Precision Medicine19 citations Open access
Semantic Scholar
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
A. Alkelai, L. Greenbaum, Anna R. Docherty, A. Shabalin +18 more
2021Molecular Psychiatry17 citations
Semantic Scholar
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
V. Jobanputra, B. Schroeder, H. Rehm, Wei Shen +9 more
2024npj Genomic Medicine15 citations Open access
Semantic Scholar
Embryonic lethal genetic variants and chromosomally normal pregnancy loss
J. Kline, B. Vardarajan, A. Abhyankar, Sonja Kytömaa +6 more
2020medRxiv15 citations Open access
Semantic Scholar
Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases
J. Mitchell, Niedzica Camacho, Patrick R. Shea, Konrad H. Stopsack +30 more
2025Nature Communications14 citations
Semantic Scholar
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, V. Bhambhani, Nour Gazzaz, M. Davids +274 more
2023npj Genomic Medicine12 citations Open access
Semantic Scholar
Metastatic pediatric sclerosing epithelioid fibrosarcoma
Andrew D. Woods, R. Purohit, L. Mitchell, J. Collier +14 more
2021Cold Spring Harbor molecular case studies11 citations Open access
Semantic Scholar
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing
Monisha Sebastin, Jacqueline A. Odgis, Sabrina A. Suckiel, K. Bonini +31 more
2023Pilot and Feasibility Studies10 citations Open access
Semantic Scholar
“Detection of mosaic variants using genome sequencing in a large pediatric cohort”
Jacqueline A. Odgis, Katie M. Gallagher, A. Rehman, Priya N. Marathe +22 more
2022American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
Expanding the phenotype of ATP6AP1 deficiency
Subit Barua, S. Berger, E. Pereira, V. Jobanputra
2022Cold Spring Harbor molecular case studies10 citations Open access
Semantic Scholar
De novo variants in DENND5B cause a neurodevelopmental disorder
M. Scala, Valeria Tomati, Matteo P. Ferla, Mariateresa Lena +282 more
2024American Journal of Human Genetics9 citations Open access
Semantic Scholar
Rare variants in BMAL1 are associated with a neurodevelopmental syndrome
V. Cuddapah, Dechun Chen, Bumsik Cho, R. Moore +12 more
2025Proceedings of the National Academy of Sciences of the United States of America7 citations Open access
Semantic Scholar
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program
K. Bonini, Amanda Thomas-Wilson, Priya N. Marathe, Monisha Sebastin +25 more
2023Clinical Genetics6 citations Open access
Semantic Scholar
RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes
A. di Napoli, Davide Vacca, Giorgio Bertolazzi, Gianluca Lopez +11 more
2021Cancers6 citations Open access
Semantic Scholar
PGT-A Mosaicism Reporting Lacks Clinical Predictive Value For Live Birth in a Multisite, Double-Blinded Study with Independent Validation.
P. Gill, Xin Tao, Y. Zhan, F. Mulas +20 more
2025American Journal of Obstetrics and Gynecology5 citations Open access
Semantic Scholar
Participation in a national diagnostic research study: assessing the patient experience
Lindsay E Rosenfeld, Kimberly Leblanc, Anna Nagy, Braeden K. Ego +259 more
2023Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities
Subit Barua, E. Pereira, V. Jobanputra, K. Anyane-Yeboa +2 more
2022Molecular Cytogenetics5 citations Open access
Semantic Scholar
Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans
L. Picchetta, C. Ottolini, Xin Tao, Y. Zhan +17 more
2025bioRxiv4 citations Open access
Semantic Scholar
O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group*
Matthew S. Lebo, Marcie A. Steeves, Katherine K Benson, L. Conlin +15 more
2023Genetics in Medicine Open4 citations Open access
Semantic Scholar
Chromosome 5q deletion drives evolution of aneuploidy in myeloid neoplasms with complex karyotype.
J. Creamer, Suhita Ray, Sintra Stewart, S. Gulsuner +15 more
2026Blood3 citations Open access
Semantic Scholar
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
S. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia +339 more
2025Nature Communications3 citations Open access
Semantic Scholar
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.
Eva Berger, R. Jauss, J. Ranells, E. Zonic +45 more
2024Genetics in Medicine3 citations Open access
Semantic Scholar
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
Michelle A. Ramos, K. Bonini, Laura Scarimbolo, Nicole R. Kelly +37 more
2024American Journal of Human Genetics3 citations Open access
Semantic Scholar
Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease
M. Marasà, D. Ahram, A. Rehman, A. Mitrotti +21 more
2023Kidney International Reports3 citations Open access
Semantic Scholar
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals with Congenital Heart Disease
Matthew J. Lewis, Alexander Hsieh, L. Qiao, Renjie Tan +17 more
2023Circulation Genomic and Precision Medicine3 citations Open access
Semantic Scholar
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
A. Dharmadhikari, Elaine M. Pereira, Carli Andrews, M. Macera +6 more
2022Frontiers in Genetics3 citations Open access
Semantic Scholar
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease
Amanda Thomas-Wilson, A. Dharmadhikari, J. J. Heymann, V. Jobanputra +4 more
2022Cold Spring Harbor molecular case studies3 citations Open access
Semantic Scholar
86 Genome sequencing as a first-tier prenatal diagnostic test: Is it time to change?
V. Jobanputra, J. L. Giordano, Josie Pervola, V. Okur +17 more
2024American Journal of Obstetrics and Gynecology2 citations
Semantic Scholar
Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases
J. Mitchell, Niedzica Camacho, Patrick R. Shea, Konrad H. Stopsack +30 more
2024medRxiv2 citations Open access
Semantic Scholar
Interventional Genomics: Bridging Germline Diagnosis and Therapeutic Action.
P. Giannikopoulos, M. Lauffer, Christian R. Marshall, G. Costain +7 more
2026Genetics in Medicine1 citations
Semantic Scholar
Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel TUBA1A Variant
E. Bornstein, V. Jobanputra, Sarah Reiss, Amanda Thomas-Wilson +3 more
2025Fetal Diagnosis and Therapy1 citations
Semantic Scholar

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