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Siddharth Banka | Researchclopedia

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Siddharth Banka

Manchester Academic Health Science Centre ORCID

246

Works

9,579

Citations

52

h-index

120

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Affiliations

Boston Children's Hospital2019–2019

University of Wisconsin–Madison2022–2022

Harvard University2019–2019

Thomas Jefferson University2021–2021

Inserm2021–2021

Top Works

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro,William J. Astle,et al.

2020570 citations

Epigenetics and DNA Methylation

RNA modifications and cancer

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

the INTERVAL Study,Alejandro Sifrim,et al.

2016464 citations

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Bergithe E Oftedal,Alexander Hellesen,et al.

2015277 citations

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faúndes,William G. Newman,et al.

2017272 citations

Kabuki syndrome: international consensus diagnostic criteria

Margaret P Adam,Siddharth Banka,et al.

2018240 citations

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau,Dalia Kasperavičiūtė,et al.

2013227 citations

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

Ranjay Jayadev,Mychel Morais,et al.

2022202 citations

Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

Mark Hannibal,Kati J. Buckingham,et al.

2011194 citations

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka,Ratna Veeramachaneni,et al.

2011180 citations