Vaidehi Jobanputra

Columbia University Irving Medical Center

Also affiliated with New York Genome Center

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 23 papers. Top paper: “De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis”.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

1.2DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine(2023)10.1016/j.gim.2023.101036

N/A

0.641DataRank · unranked

71 citations

Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin +42 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0.578DataRank · unranked

46 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

Genetics in Medicine(2023)10.1016/j.gim.2023.100880

N/A

0.564DataRank · unranked

42 citations

Priya N. Marathe, Nicole R. Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis +22 more

Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

Nature Communications(2025)10.1038/s41467-025-56944-1

N/A

0.406DataRank · unranked

14 citations

Niedzica Camacho, Patrick R. Shea, Konrad H. Stopsack, Vijai Joseph, Oliver S. Burren +29 more

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

medRxiv(2023)10.1101/2023.03.18.23286992

N/A

0.312DataRank · unranked

7 citations

Priya Marathe, Nicole Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis +22 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0.241DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

Kidney International Reports(2023)10.1016/j.ekir.2023.05.021

N/A

0.241DataRank · unranked

4 citations

Dina Ahram, Atteeq U. Rehman, Adele Mitrotti, Avinash Abhyankar, Namrata G. Jain +20 more

Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.09.014

N/A

0.165DataRank · unranked

2 citations

Christian S. Ottolini, Xin Tao, Yiping Zhan, Vaidehi Jobanputra, Carlos Marin Vallejo +16 more

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

medRxiv(2020)10.1101/2020.09.02.20186361

N/A

0.104DataRank · unranked

1 citations

Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole Kelly +41 more

Detection of mosaic variants using genome sequencing in a large pediatric cohort

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63062

N/A

0DataRank · unranked

14 citations

Katie M. Gallagher, Atteeq U. Rehman, Priya Marathe, Katherine E. Bonini, Monisha Sebastin +21 more

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Research Square(2020)10.21203/rs.3.rs-64844/v1

N/A

0DataRank · unranked

0 citations

Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole Kelly +41 more

GenomeDiver: A platform for phenotype-guided medical genomic diagnosis

medRxiv(2020)10.1101/2020.11.22.20236430

N/A

0DataRank · unranked

0 citations

Christian Stolte, Kevin Shi, Faygel Beren, Noura S. Abul‐Husn, Gabrielle Bertier +12 more

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

Clinical Genetics(2023)10.1111/cge.14365

N/A

0DataRank · unranked

6 citations

Amanda Thomas‐Wilson, Priya N. Marathe, Monisha Sebastin, Jacqueline A. Odgis, Miranda Di Biase +24 more

Embryonic lethal genetic variants and chromosomally normal pregnancy loss

medRxiv(2020)10.1101/2020.10.16.20214163

N/A

0DataRank · unranked

2 citations

Badri N. Vardarajan, Avinash Avabhyankar, Sonja Kytömaa, Bruce Levin, Nara Sobreira +5 more

Clinical Impact of Telomere Length Testing for Interstitial Lung Disease

CHEST Journal(2024)10.1016/j.chest.2024.06.006

N/A

0DataRank · unranked

23 citations

C. Eckhardt, Claire McGroder, Shannon Benesh, Julie Porcelli, Christopher Depender +6 more

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies

Journal of Molecular Diagnostics(2020)10.1016/j.jmoldx.2020.09.009

N/A

0DataRank · unranked

1 citations

Peter Andrews, Vanessa Felice, Avinash Abhyankar, Lukasz Kozon, Dino Robinson +5 more

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.015

N/A

0DataRank · unranked

4 citations

Katherine E. Bonini, Laura Scarimbolo, Nicole Kelly, Beverly J. Insel, Sabrina A. Suckiel +36 more

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63798

N/A

0DataRank · unranked

0 citations

Kelly Schoch, Alden Huang, Hane Lee, Lee-kai Wang, Edward C. Smith +7 more

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Orphanet Journal of Rare Diseases(2020)10.1186/s13023-020-01600-8

N/A

0DataRank · unranked

14 citations

Avinash V. Dharmadhikari, Sara D. Ragi, José Ronaldo Lima de Carvalho, Christine L. Xu, Amanda Thomas‐Wilson +8 more

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2427085122

N/A

0DataRank · unranked

3 citations

Dechun Chen, Bumsik Cho, Rebecca S. Moore, Mohnish Suri, Hana Safraou +11 more

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

Kidney International Reports(2022)10.1016/j.ekir.2022.07.174

N/A

0DataRank · unranked

3 citations

Dina Ahram, Maddalena Marasà, Ateeq Ur Rehman, Halie May, Stergios Zacharoulis +11 more

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.011

N/A

0DataRank · unranked

112 citations

Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner +25 more