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Vaidehi Jobanputra | Researchclopedia

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Vaidehi Jobanputra

Baylor College of Medicine ORCID

191

Works

7,460

Citations

36

h-index

81

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics

Affiliations

University of Vermont2013–2013

Centers for Disease Control and Prevention2012–2012

Morgan Stanley Children's Hospital2022–2022

Memorial Sloan Kettering Cancer Center2017–2017

NewYork–Presbyterian Hospital2013–2021

Top Works

Strong Association of De Novo Copy Number Mutations with Autism

Jonathan Sebat,B. Lakshmi,et al.

20072,826 citations

Cancer Genomics and Diagnostics

Genetic factors in colorectal cancer

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

Slavé Petrovski,Vimla S. Aggarwal,et al.

2019594 citations

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Simone Sanna‐Cherchi,Krzysztof Kiryluk,et al.

2012231 citations

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

Sneh Lata,Maddalena Marasà,et al.

2018197 citations

Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions

Vaidehi Jobanputra

2002148 citations

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Christian R. Marshall,Shimul Chowdhury,et al.

2020147 citations

Best practices for the interpretation and reporting of clinical whole genome sequencing

Christina Austin‐Tse,Vaidehi Jobanputra,et al.

2022144 citations

Indel variant analysis of short-read sequencing data with Scalpel

Han Fang,Ewa A. Bergmann,et al.

2016135 citations

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm,Joseph T. Alaimo,et al.

2023121 citations