Nirmal Vadgama

Nirmal Vadgama

Stanford University

H-index: 12

North America-United States

About Nirmal Vadgama

Nirmal Vadgama, With an exceptional h-index of 12 and a recent h-index of 12 (since 2020), a distinguished researcher at Stanford University, specializes in the field of Genetics, rare variants, mosaicism, de novo mutations, complex disorders.

His recent articles reflect a diverse array of research interests and contributions to the field:

A second update on mapping the human genetic architecture of COVID-19

Genetic analysis and multimodal imaging identify novel mtDNA 12148T> C leading to multisystem dysfunction with tissue-specific heteroplasmy

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies

Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Loss-of-function variants in MINAR2 cause autosomal recessive non-syndromic hearing loss

Research Consortium GE, Deaconescu AM, Lee RT, Penkett CJ, Gifford CA, Mercola M, Nasir J and Karakikes I (2022) SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within …

Nirmal Vadgama Information

University

Position

___

Citations(all)

1453

Citations(since 2020)

1440

Cited By

196

hIndex(all)

12

hIndex(since 2020)

12

i10Index(all)

13

i10Index(since 2020)

13

Email

University Profile Page

Google Scholar

Nirmal Vadgama Skills & Research Interests

Genetics

rare variants

mosaicism

de novo mutations

complex disorders

Top articles of Nirmal Vadgama

Genetic analysis and multimodal imaging identify novel mtDNA 12148T> C leading to multisystem dysfunction with tissue-specific heteroplasmy

medRxiv

2023

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease

Cell

2022/12/22

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies

Human Genomics

2022/11/10

Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy

European Heart Journal

2022/9/21

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Proceedings of the National Academy of Sciences

2022/6/28

Loss-of-function variants in MINAR2 cause autosomal recessive non-syndromic hearing loss

Proceedings of the National Academy of Sciences of the United States of America

2022/5/13

Research Consortium GE, Deaconescu AM, Lee RT, Penkett CJ, Gifford CA, Mercola M, Nasir J and Karakikes I (2022) SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within …

Front. Genet. 13: 888025. doi: 10.3389/fgene

2022/4/27

SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds

Frontiers in Genetics

2022/4/27

Unfolded protein response as a compensatory mechanism and potential therapeutic target in PLN R14del cardiomyopathy

Circulation

2021/8/3

Small-molecule probe reveals a kinase cascade that links stress signaling to TCF/LEF and Wnt responsiveness

Cell chemical biology

2021/5/20

activation of CaMKII signaling pathway contributes to the pathogenesis of genetic hypertrophic cardiomyopathy

Circulation Research

2020/7/31

The COVID-19 host genetics initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic

European Journal of Human Genetics

2020/6

See List of Professors in Nirmal Vadgama University(Stanford University)

Co-Authors

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